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Obesity(EO Obesity)

MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Synonyms: EO Obesity; Obesity, MC4R-Related; OBESITY, SUSCEPTIBILITY TO
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Polygenic inheritance
MedGen UID:
223859
Concept ID:
C1148552
Genetic Function
Source: HPO
A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Obese (414915002); Obesity (414916001)
 
Genes (locations): ADRB2 (5q32); ADRB3 (8p11.23); AGRP (16q22.1); CARTPT (5q13.2); ENPP1 (6q23.2); GHRL (3p25.3); MC4R (18q21.32); NR0B2 (1p36.11); POMC (2p23.3); PPARG (3p25.2); PPARGC1B (5q32); SDC3 (1p35.2); SIM1 (6q16.3); UCP1 (4q31.1); UCP3 (11q13.4)
OMIM®: 601665
HPO: HP:0001513
Orphanet: ORPHA71529

Definition

Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

Clinical features

Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Decreased resting energy expenditure
MedGen UID:
868548
Concept ID:
C4022947
Finding
An reduction in the number of calories used per unit time.

Conditions with this feature

Lipomatosis dolorosa
MedGen UID:
1757
Concept ID:
C0001529
Disease or Syndrome
Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, including multiple lipomas, generalized weakness, fatigue, sleep disturbances, constipation, and psychiatric abnormalities. It is 5 to 30 times more common in women than men, and usually presents between 35 and 50 years of age (summary by Campen et al., 2001; review by Hansson et al., 2012). Based on a review of the literature and studies of 111 patients, Hansson et al. (2012) proposed a classification of Dercum disease into 4 types: (I) generalized diffuse form without clear lipomas, (II) generalized nodular form with multiple lipomas, (III) localized nodular form, and (IV) juxtaarticular form with solitary fatty deposits near joints.
DiGeorge sequence
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) have a range of findings including the following: Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus). Palatal abnormalities (69%), particularly velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate. Characteristic facial features (present in the majority of individuals of northern European heritage). Learning difficulties (70%-90%). An immune deficiency (regardless of the clinical presentation) (77%). Additional findings include the following: Hypocalcemia (50%). Significant feeding and swallowing problems; constipation with or without structural gastrointestinal anomalies (intestinal malrotation, imperforate anus, and Hirschsprung disease). Renal anomalies (31%). Hearing loss (both conductive and sensorineural). Laryngotracheoesophageal anomalies. Growth hormone deficiency. Autoimmune disorders. Seizures (idiopathic or associated with hypocalcemia). CNS anomalies including tethered cord. Skeletal abnormalities (scoliosis with or without vertebral anomalies, clubbed feet, polydactyly, and craniosynostosis). Ophthalmologic abnormalities (strabismus, posterior embryotoxon, tortuous retinal vessels, scleracornea, and anophthalmia). Enamel hypoplasia. Malignancies (rare). Developmental delay (in particular delays in emergence of language), intellectual disability, and learning differences (non-verbal learning disability where the verbal IQ is significantly greater than the performance IQ) are common. Autism or autistic spectrum disorder is found in approximately 20% of children and psychiatric illness (specifically schizophrenia) is present in 25% of adults; however, attention deficit disorder, anxiety, perseveration, and difficulty with social interactions are also common.
Familial type 3 hyperlipoproteinemia
MedGen UID:
9364
Concept ID:
C0020479
Disease or Syndrome
Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoporteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipolipoprotein E or absence of apoE (summary by Blum, 2016).
Hyperostosis interna frontalis
MedGen UID:
9367
Concept ID:
C0020494
Disease or Syndrome
Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Extreme obesity with alveolar hypoventilation
MedGen UID:
18472
Concept ID:
C0031880
Disease or Syndrome
HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately.
Polycystic ovaries
MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts (fluid-filled sacs) to grow on the ovaries. Symptoms include. -Irregular menstrual periods. -Infertility. -Pelvic pain. -Excess hair growth on the face, chest, stomach, or thighs. -Weight gain. -Acne or oily skin. -Patches of thickened skin. Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is more common in women who are obese, or have a mother or sister with PCOS. To diagnose PCOS, your health care provider may do a physical exam, pelvic exam, blood tests, and an ultrasound. There is no cure, but diet, exercise, and medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Treatments for infertility caused by PCOS may include medicines, surgery, and in vitro fertilization (IVF). NIH: National Institute of Child Health and Human Development.
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
Pseudohypoparathyroidism type 1A
MedGen UID:
46178
Concept ID:
C0033806
Disease or Syndrome
Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH; 168450). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, 188540) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006). In contrast, pseudopseudohypoparathyroidism (PPHP; 612463) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.
Pseudopseudohypoparathyroidism
MedGen UID:
10995
Concept ID:
C0033835
Disease or Syndrome
Patients with pseudopseudohypoparathyroidism do not show resistance to parathyroid hormone (PTH; 168450) or other hormones, as is the case with PHP1A (103580), but do manifest the constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PPHP occurs only after paternal inheritance of the molecular defect, whereas PHP1A occurs only after maternal inheritance of the molecular defect (see Inheritance and Pathogenesis below). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele (Davies and Hughes, 1993; Wilson et al., 1994). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580).
Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects.
Angelman syndrome
MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious.
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
MedGen UID:
64512
Concept ID:
C0206115
Disease or Syndrome
Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor.
Halothane hepatitis
MedGen UID:
66842
Concept ID:
C0241913
Disease or Syndrome
Borjeson-Forssman-Lehmann syndrome
MedGen UID:
78557
Concept ID:
C0265339
Disease or Syndrome
Microcephaly, characteristic facies (swelling, p prominent supraorbital ridges and narrow palpebral fissures), obesity, epilepsy, and hypogonadism, and mental deficiency.
Pallister-Killian syndrome
MedGen UID:
120540
Concept ID:
C0265449
Disease or Syndrome
Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).
Polymorphous corneal dystrophy
MedGen UID:
87382
Concept ID:
C0339284
Disease or Syndrome
This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.
Desbuquois syndrome
MedGen UID:
98479
Concept ID:
C0432242
Disease or Syndrome
A syndrome with a wide clinical spectrum, consisting of chondrodystrophy, micromelic dwarfism, vertebral and metaphyseal abnormalities, advanced carpotarsal ossification, dislocation of the patellae and hips, glaucoma, and mental deficiency.
Bardet-Biedl syndrome
MedGen UID:
156019
Concept ID:
C0752166
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Chromosome 9q deletion syndrome
MedGen UID:
208639
Concept ID:
C0795833
Disease or Syndrome
Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate to severe spectrum of intellectual disability although a few individuals have mild delay and total IQ around 70. Although most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed including heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy/febrile seizures, autistic-like features in childhood, and extreme apathy or catatonic-like features after puberty.
Myhre syndrome
MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ systems primarily involved include: cardiovascular (congenital heart defects, long- and short-segment stenosis of the aorta and peripheral arteries, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension); respiratory (choanal stenosis, laryngotracheal narrowing, obstructive airway disease, or restrictive pulmonary disease), gastrointestinal (pyloric stenosis, duodenal strictures, severe constipation); and skin (thickened particularly on the hands and extensor surfaces). Additional findings include distinctive craniofacial features and skeletal involvement (intrauterine growth restriction, short stature, limited joint range of motion). To date, 55 individuals with molecularly confirmed Myhre syndrome have been reported.
Prader-Willi habitus, osteopenia, and camptodactyly
MedGen UID:
162919
Concept ID:
C0796189
Disease or Syndrome
This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
Atkin syndrome
MedGen UID:
163230
Concept ID:
C0796206
Disease or Syndrome
Nonsyndromic mental retardation with inconsistent clinical findings which may include an elongated face, synophrys, high nasal bridge, anteverted nostrils, highly arched palate, hyperextensible fingers, umbilical hernia, and hip dislocation.
Carpenter syndrome 1
MedGen UID:
226897
Concept ID:
C1275078
Disease or Syndrome
Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267).
Congenital absence of germinal epithelium of testes
MedGen UID:
235163
Concept ID:
C1384583
Congenital Abnormality
In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). There is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; 400042). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Summitt syndrome
MedGen UID:
369198
Concept ID:
C1802405
Disease or Syndrome
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MedGen UID:
318680
Concept ID:
C1832662
Finding
Proprotein convertase 1/3 deficiency
MedGen UID:
318777
Concept ID:
C1833053
Disease or Syndrome
MOMO syndrome
MedGen UID:
371897
Concept ID:
C1834759
Disease or Syndrome
Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
MedGen UID:
325238
Concept ID:
C1837730
Disease or Syndrome
Brachydactyly-Mental Retardation syndrome
MedGen UID:
373895
Concept ID:
C1838126
2q37 microdeletion syndrome is characterized by mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5 (often digit 4 alone) (>50%), short stature, obesity, hypotonia, characteristic facial appearance, autism or autism spectrum disorder (30%), joint hypermobility/dislocation, and scoliosis. Other findings include seizures (20%-35%), congenital heart disease, CNS abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, situs abnormalities, gastrointestinal abnormalities, and renal malformations. Wilms tumor has been reported in two individuals.
Male pseudohermaphroditism/mental retardation syndrome, Verloes type
MedGen UID:
325469
Concept ID:
C1838611
Disease or Syndrome
Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%).
Ayazi syndrome
MedGen UID:
336796
Concept ID:
C1844836
Disease or Syndrome
An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Mental retardation 91, X-linked
MedGen UID:
375592
Concept ID:
C1845142
Disease or Syndrome
Mental retardation X-linked syndromic 11
MedGen UID:
335348
Concept ID:
C1846145
Disease or Syndrome
Mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
MedGen UID:
376145
Concept ID:
C1847522
Disease or Syndrome
Short stature-obesity syndrome
MedGen UID:
341410
Concept ID:
C1849235
Disease or Syndrome
Prolactin deficiency with obesity and enlarged testes
MedGen UID:
341515
Concept ID:
C1849698
Disease or Syndrome
Macrocephaly/autism syndrome
MedGen UID:
381416
Concept ID:
C1854416
Disease or Syndrome
Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016).
Metaphyseal dysostosis mental retardation conductive deafness
MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
Macrosomia adiposa congenita
MedGen UID:
340875
Concept ID:
C1855468
Disease or Syndrome
Kallmann syndrome 4
MedGen UID:
387893
Concept ID:
C1857720
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Proopiomelanocortin deficiency
MedGen UID:
341863
Concept ID:
C1857854
Disease or Syndrome
Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to corticotropin (ACTH) deficiency. In the first months of life most children with POMC deficiency experience exponential weight gain, hyperphagia, cholestasis, and adrenal insufficiency. Weight gain continues rapidly, so that by the end of the first year of life obesity is severe (i.e., weight well above the 98(th) centile for age, without increased height). Red hair and Fitzpatrick type 1 skin (which always burns and never tans) are common, but not invariably present. On occasion central hypothyroidism (resulting from thyroid stimulating hormone [TSH] deficiency), adolescent-onset growth hormone (GH) deficiency, and adolescent-onset hypogonadotropic hypogonadism resulting from deficiency of luteinizing hormone (LH) and follicule stimulating hormone (FSH) can be observed.
Bardet-Biedl syndrome 6
MedGen UID:
347610
Concept ID:
C1858054
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Spastic paraplegia 11, autosomal recessive
MedGen UID:
388073
Concept ID:
C1858479
Disease or Syndrome
Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset.
Bardet-Biedl syndrome 3
MedGen UID:
347179
Concept ID:
C1859564
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 7
MedGen UID:
347180
Concept ID:
C1859565
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 8
MedGen UID:
347181
Concept ID:
C1859566
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 9
MedGen UID:
347182
Concept ID:
C1859567
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 10
MedGen UID:
347909
Concept ID:
C1859568
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 11
MedGen UID:
395295
Concept ID:
C1859569
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 12
MedGen UID:
347910
Concept ID:
C1859570
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Triglyceride storage disease, type II
MedGen UID:
349896
Concept ID:
C1860820
Disease or Syndrome
Apolipoprotein E, Deficiency or Defect of
MedGen UID:
350700
Concept ID:
C1862556
Disease or Syndrome
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
MedGen UID:
350701
Concept ID:
C1862557
Disease or Syndrome
Familial Hyperbeta- and Prebetalipoproteinemia
MedGen UID:
400080
Concept ID:
C1862558
Disease or Syndrome
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
MedGen UID:
354777
Concept ID:
C1862560
Disease or Syndrome
Broad-Betalipoproteinemia
MedGen UID:
400081
Concept ID:
C1862561
Disease or Syndrome
Floating-Betalipoproteinemia
MedGen UID:
350702
Concept ID:
C1862562
Disease or Syndrome
Coronary artery disease, severe, susceptibility to
MedGen UID:
349546
Concept ID:
C1862591
Finding
Pseudohypoparathyroidism type 1B
MedGen UID:
350343
Concept ID:
C1864100
Disease or Syndrome
Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH; 188540) has been reported in PHP Ib (Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely show some features of AHO (Mariot et al., 2008). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580).
Chromosome 16p13.3 deletion syndrome, proximal
MedGen UID:
350477
Concept ID:
C1864648
Disease or Syndrome
Coloboma-obesity-hypogenitalism-mental retardation syndrome
MedGen UID:
400954
Concept ID:
C1866256
Disease or Syndrome
Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Lipoprotein glomerulopathy
MedGen UID:
382034
Concept ID:
C2673196
Disease or Syndrome
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians.
Bardet-Biedl syndrome 13
MedGen UID:
393032
Concept ID:
C2673873
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 14
MedGen UID:
393033
Concept ID:
C2673874
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Pseudohypoparathyroidism type 1C
MedGen UID:
436554
Concept ID:
C2675910
Pseudohypoparathyroidism type Ic (PHP1C) is characterized by resistance to parathyroid hormone (PTH; 168450) as well as to other hormones. It is associated with a constellation of physical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. Laboratory studies in patients with PHP Ic show a decreased cellular cyclic AMP (cAMP) response to infused PTH, but no defect in activity of the erythrocyte Gs protein (Mantovani and Spada, 2006).
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
MedGen UID:
390957
Concept ID:
C2676098
Finding
Body mass index quantitative trait locus 9
MedGen UID:
393673
Concept ID:
C2677162
Finding
Chromosome 3q29 microduplication syndrome
MedGen UID:
440897
Concept ID:
C2749873
Disease or Syndrome
A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents.
Growth retardation, developmental delay, coarse facies, and early death
MedGen UID:
414158
Concept ID:
C2752001
Congenital Abnormality
Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).
Clark-Baraitser syndrome
MedGen UID:
443983
Concept ID:
C2931130
Disease or Syndrome
Bardet-Biedl syndrome 2
MedGen UID:
422453
Concept ID:
C2936863
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 4
MedGen UID:
423627
Concept ID:
C2936864
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Maturity-onset diabetes of the young, type 11
MedGen UID:
461968
Concept ID:
C3150618
Disease or Syndrome
Witteveen-kolk syndrome
MedGen UID:
462024
Concept ID:
C3150674
Disease or Syndrome
The 15q24 microdeletion syndrome is characterized by global developmental delay; mild to severe (usually at least moderate) intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive. Less common findings include: seizures; conductive and sensorineural hearing loss; hypospadias and/ or micropenis. Males and females are affected equally.
Mental retardation with language impairment and with or without autistic features
MedGen UID:
462273
Concept ID:
C3150923
Disease or Syndrome
Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).
Obesity, hyperphagia, and developmental delay
MedGen UID:
462653
Concept ID:
C3151303
Disease or Syndrome
DESBUQUOIS DYSPLASIA, KIM VARIANT
MedGen UID:
480112
Concept ID:
C3278482
Disease or Syndrome
Mental retardation, autosomal recessive 15
MedGen UID:
481757
Concept ID:
C3280127
Disease or Syndrome
Narcolepsy 7
MedGen UID:
481896
Concept ID:
C3280266
Disease or Syndrome
Nephronophthisis 15
MedGen UID:
762112
Concept ID:
C3541853
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recongnized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/ adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Cortisone reductase deficiency 1
MedGen UID:
764630
Concept ID:
C3551716
Disease or Syndrome
Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; 600713). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; 138090) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lavery et al., 2008). Genetic Heterogeneity of Cortisone Reductase Deficiency CORTRD2 (614662) is caused by mutation in the HSD11B1 gene (600713) on chromosome 1q32.
Acrodysostosis 2, with or without hormone resistance
MedGen UID:
766164
Concept ID:
C3553250
Disease or Syndrome
Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).
Coenzyme Q10 deficiency, primary, 2
MedGen UID:
766268
Concept ID:
C3553354
Disease or Syndrome
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
Cortisone reductase deficiency 2
MedGen UID:
766296
Concept ID:
C3553382
Disease or Syndrome
Cortisone reductase deficiency (CRD) is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; 138090), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lawson et al., 2011). For a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 (604931).
Combined oxidative phosphorylation deficiency 15
MedGen UID:
767096
Concept ID:
C3554182
Disease or Syndrome
Leptin deficiency or dysfunction
MedGen UID:
767138
Concept ID:
C3554224
Disease or Syndrome
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).
Leptin receptor deficiency
MedGen UID:
767139
Concept ID:
C3554225
Disease or Syndrome
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and they may be unable to conceive children (infertile).
Carpenter syndrome 2
MedGen UID:
767161
Concept ID:
C3554247
Disease or Syndrome
Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.
Bardet-Biedl syndrome 17
MedGen UID:
811538
Concept ID:
C3714980
Disease or Syndrome
BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Bardet-Biedl syndrome 18
MedGen UID:
812504
Concept ID:
C3806174
Disease or Syndrome
BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive
MedGen UID:
815773
Concept ID:
C3809443
Disease or Syndrome
Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).
Schaaf-yang syndrome
MedGen UID:
816207
Concept ID:
C3809877
Disease or Syndrome
Short-rib thoracic dysplasia 10 with or without polydactyly
MedGen UID:
816505
Concept ID:
C3810175
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Short-rib thoracic dysplasia 11 with or without polydactyly
MedGen UID:
816530
Concept ID:
C3810200
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Morbid obesity and spermatogenic failure
MedGen UID:
816654
Concept ID:
C3810324
Disease or Syndrome
APOE4(-)-FREIBURG PHENOTYPE
MedGen UID:
854548
Concept ID:
C3887714
Finding
Bardet-Biedl syndrome 16
MedGen UID:
855172
Concept ID:
C3889474
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Bardet-Biedl syndrome 19
MedGen UID:
855173
Concept ID:
C3889475
Disease or Syndrome
BBS19 is an autosomal recessive ciliopathy characterized by obesity, intellectual disability, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Bardet-Biedl syndrome 5
MedGen UID:
856141
Concept ID:
C3892039
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
Desbuquois dysplasia 1
MedGen UID:
860583
Concept ID:
C4012146
Disease or Syndrome
Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois Dysplasia DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12. Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.
Helsmoortel-van der aa syndrome
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.Individuals with ADNP syndrome have mild to severe intellectual disability and delayed development of speech and motor skills such as sitting and walking. Some affected individuals are never able to speak. People with this disorder exhibit features typical of autism spectrum disorder, including repetitive behaviors and difficulty with social interactions. ADNP syndrome is also associated with mood disorders or behavioral problems, such as anxiety, temper tantrums, attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder, or sleep problems.Many people with ADNP syndrome have distinctive facial features, which most commonly include a prominent forehead, a high hairline, outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures), droopy eyelids (ptosis), a broad nasal bridge, and a thin upper lip. These individuals may also have unusually shaped ears or hand and finger abnormalities. Eye and vision abnormalities, such as eyes that do not point in the same direction (strabismus) and farsightedness (hyperopia), also occur in ADNP syndrome. Some people with this condition have early appearance (eruption) of primary (baby) teeth.Some people with ADNP syndrome have weak muscle tone (hypotonia) and feeding difficulties in infancy. They may also have digestive system problems, such as backflow of stomach acids into the esophagus (gastroesophageal reflux), vomiting, and constipation. Other features that occur in ADNP syndrome include obesity, seizures, and heart abnormalities.
Retinal dystrophy and obesity
MedGen UID:
863861
Concept ID:
C4015424
Disease or Syndrome
APOE2 ISOFORMS
MedGen UID:
864295
Concept ID:
C4015858
Finding
HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
MedGen UID:
864296
Concept ID:
C4015859
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH
MedGen UID:
864297
Concept ID:
C4015860
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
MedGen UID:
864298
Concept ID:
C4015861
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY
MedGen UID:
864299
Concept ID:
C4015862
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE LEIDEN
MedGen UID:
864300
Concept ID:
C4015863
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7
MedGen UID:
864301
Concept ID:
C4015864
Finding
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT
MedGen UID:
864302
Concept ID:
C4015865
Finding
APOLIPOPROTEINEMIA E1
MedGen UID:
864303
Concept ID:
C4015866
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG
MedGen UID:
864304
Concept ID:
C4015867
Finding
Dysbetalipoproteinemia due to apoe2
MedGen UID:
864305
Concept ID:
C4015868
Finding
APOE2-DUNEDIN PHENOTYPE
MedGen UID:
864306
Concept ID:
C4015869
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA
MedGen UID:
864307
Concept ID:
C4015870
Finding
APOE3 ISOFORM
MedGen UID:
864308
Concept ID:
C4015871
Finding
ALZHEIMER DISEASE 2, DUE TO APOE4 ISOFORM
MedGen UID:
864309
Concept ID:
C4015872
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY, AUTOSOMAL RECESSIVE
MedGen UID:
864310
Concept ID:
C4015873
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA
MedGen UID:
864311
Concept ID:
C4015874
Finding
Hypercholesterolemia and hypertriglyceridemia, type III
MedGen UID:
864312
Concept ID:
C4015875
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
MedGen UID:
864313
Concept ID:
C4015876
Finding
APOE3(-)-FREIBURG PHENOTYPE
MedGen UID:
864314
Concept ID:
C4015877
Finding
APOE4 VARIANT PHENOTYPE
MedGen UID:
864315
Concept ID:
C4015878
Finding
APOE3 VARIANT PHENOTYPE
MedGen UID:
864316
Concept ID:
C4015879
Finding
APOE2 VARIANT PHENOTYPE
MedGen UID:
864317
Concept ID:
C4015880
Finding
APOE4(+) PHENOTYPE
MedGen UID:
864318
Concept ID:
C4015881
Finding
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL RECESSIVE
MedGen UID:
865858
Concept ID:
C4017421
Finding
APOE-SUITA PHENOTYPE
MedGen UID:
865859
Concept ID:
C4017422
Finding
APOE3-WASHINGTON PHENOTYPE
MedGen UID:
865860
Concept ID:
C4017423
Finding
APOE3(-)-KOCHI PHENOTYPE
MedGen UID:
865861
Concept ID:
C4017424
Finding
APOE2-FUKUOKA PHENOTYPE
MedGen UID:
865862
Concept ID:
C4017425
Finding
APOE SENDAI PHENOTYPE
MedGen UID:
865863
Concept ID:
C4017426
Finding
APOE KYOTO PHENOTYPE
MedGen UID:
865864
Concept ID:
C4017427
Finding
Chops syndrome
MedGen UID:
894554
Concept ID:
C4085597
Disease or Syndrome
CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.Most affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.People with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).Other features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).
Senior-Loken syndrome 9
MedGen UID:
899086
Concept ID:
C4225263
Disease or Syndrome
Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
Mental retardation, autosomal dominant 39
MedGen UID:
909304
Concept ID:
C4225296
Disease or Syndrome
Retinitis pigmentosa 71
MedGen UID:
897209
Concept ID:
C4225342
Disease or Syndrome
CHROMOSOME 2p25.3 DUPLICATION SYNDROME
MedGen UID:
907829
Concept ID:
C4225432
Disease or Syndrome
CHROMOSOME 2p25.3 DELETION SYNDROME
MedGen UID:
895312
Concept ID:
C4225433
Disease or Syndrome
Laurence-Moon syndrome
MedGen UID:
44078
Concept ID:
C0023138
Disease or Syndrome
PNPLA6-related disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia, upper motor neuron involvement manifesting as spasticity and/or brisk reflexes, chorioretinal dystrophy associated with variable degrees of reduced visual function, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics), either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting), hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia), short stature, and impaired cognitive functioning (learning disabilities in children and deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).
Familial hypoplastic, glomerulocystic kidney
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., global developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural renal anomalies occur in 80% to 85% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: 10 to 50 years).
Retinitis pigmentosa 51
MedGen UID:
462065
Concept ID:
C3150715
Disease or Syndrome

Recent clinical studies

Etiology

Skrypnik K, Suliburska J, Skrypnik D, Pilarski Ł, Reguła J, Bogdański P
Acta Sci Pol Technol Aliment 2017 Jan-Mar;16(1):83-91. PMID: 28362475
Romieu I, Dossus L, Barquera S, Blottière HM, Franks PW, Gunter M, Hwalla N, Hursting SD, Leitzmann M, Margetts B, Nishida C, Potischman N, Seidell J, Stepien M, Wang Y, Westerterp K, Winichagoon P, Wiseman M, Willett WC; IARC working group on Energy Balance and Obesity.
Cancer Causes Control 2017 Mar;28(3):247-258. Epub 2017 Feb 17 doi: 10.1007/s10552-017-0869-z. PMID: 28210884Free PMC Article
Dreber H, Reynisdottir S, Angelin B, Tynelius P, Rasmussen F, Hemmingsson E
Clin Obes 2017 Feb;7(1):1-10. Epub 2017 Jan 6 doi: 10.1111/cob.12170. PMID: 28058812
Mendonça RD, Pimenta AM, Gea A, de la Fuente-Arrillaga C, Martinez-Gonzalez MA, Lopes AC, Bes-Rastrollo M
Am J Clin Nutr 2016 Nov;104(5):1433-1440. Epub 2016 Oct 12 doi: 10.3945/ajcn.116.135004. PMID: 27733404
Kaminska D, Käkelä P, Nikkola E, Venesmaa S, Ilves I, Herzig KH, Kolehmainen M, Karhunen L, Kuusisto J, Gylling H, Pajukanta P, Laakso M, Pihlajamäki J
Obesity (Silver Spring) 2016 Oct;24(10):2033-7. Epub 2016 Aug 12 doi: 10.1002/oby.21587. PMID: 27515906Free PMC Article

Diagnosis

Pickens CA, Sordillo LM, Zhang C, Fenton JI
Metabolism 2017 May;70:177-191. Epub 2017 Feb 7 doi: 10.1016/j.metabol.2017.01.034. PMID: 28403941
Caira S, Iannelli A, Sciarrillo R, Picariello G, Renzone G, Scaloni A, Addeo P
J Enzyme Inhib Med Chem 2017 Dec;32(1):672-682. doi: 10.1080/14756366.2017.1292262. PMID: 28274171
Day SE, Coletta RL, Kim JY, Garcia LA, Campbell LE, Benjamin TR, Roust LR, De Filippis EA, Mandarino LJ, Coletta DK
Epigenetics 2017 Apr 3;12(4):254-263. Epub 2017 Jan 20 doi: 10.1080/15592294.2017.1281501. PMID: 28106509Free PMC Article
Dreber H, Reynisdottir S, Angelin B, Tynelius P, Rasmussen F, Hemmingsson E
Clin Obes 2017 Feb;7(1):1-10. Epub 2017 Jan 6 doi: 10.1111/cob.12170. PMID: 28058812
Eckel RH, Bays HE, Klein S, Bade Horn D
Postgrad Med 2016 Oct;128 Suppl 1:21-30. Epub 2016 May 6 doi: 10.1080/00325481.2016.1181412. PMID: 27153316

Therapy

Halpern B, Mancini MC
Expert Opin Drug Saf 2017 Jan;16(1):27-39. Epub 2016 Oct 24 doi: 10.1080/14740338.2017.1247807. PMID: 27732121
Kolahdooz F, Sadeghirad B, Corriveau A, Sharma S
Crit Rev Food Sci Nutr 2017 May 3;57(7):1316-1327. doi: 10.1080/10408398.2014.913003. PMID: 26566086
Brimelow RE, West NP, Williams LT, Cripps AW, Cox AJ
Crit Rev Food Sci Nutr 2017 May 24;57(8):1593-1602. doi: 10.1080/10408398.2014.995264. PMID: 26068582
Fresán U, Gea A, Bes-Rastrollo M, Ruiz-Canela M, Martínez-Gonzalez MA
Nutrients 2016 Oct 31;8(11) doi: 10.3390/nu8110688. PMID: 27809239Free PMC Article
Mendonça RD, Pimenta AM, Gea A, de la Fuente-Arrillaga C, Martinez-Gonzalez MA, Lopes AC, Bes-Rastrollo M
Am J Clin Nutr 2016 Nov;104(5):1433-1440. Epub 2016 Oct 12 doi: 10.3945/ajcn.116.135004. PMID: 27733404

Prognosis

Proietti M, Guiducci E, Cheli P, Lip GY
Stroke 2017 Apr;48(4):857-866. Epub 2017 Mar 6 doi: 10.1161/STROKEAHA.116.015984. PMID: 28265017
Brimelow RE, West NP, Williams LT, Cripps AW, Cox AJ
Crit Rev Food Sci Nutr 2017 May 24;57(8):1593-1602. doi: 10.1080/10408398.2014.995264. PMID: 26068582
Fresán U, Gea A, Bes-Rastrollo M, Ruiz-Canela M, Martínez-Gonzalez MA
Nutrients 2016 Oct 31;8(11) doi: 10.3390/nu8110688. PMID: 27809239Free PMC Article
Mendonça RD, Pimenta AM, Gea A, de la Fuente-Arrillaga C, Martinez-Gonzalez MA, Lopes AC, Bes-Rastrollo M
Am J Clin Nutr 2016 Nov;104(5):1433-1440. Epub 2016 Oct 12 doi: 10.3945/ajcn.116.135004. PMID: 27733404
Mottaghi A, Mirmiran P, Delshad H, Azizi F
J Am Coll Nutr 2016 Sep-Oct;35(7):587-596. Epub 2015 Dec 9 doi: 10.1080/07315724.2015.1046195. PMID: 26650689

Clinical prediction guides

Skrypnik K, Suliburska J, Skrypnik D, Pilarski Ł, Reguła J, Bogdański P
Acta Sci Pol Technol Aliment 2017 Jan-Mar;16(1):83-91. PMID: 28362475
Dreber H, Reynisdottir S, Angelin B, Tynelius P, Rasmussen F, Hemmingsson E
Clin Obes 2017 Feb;7(1):1-10. Epub 2017 Jan 6 doi: 10.1111/cob.12170. PMID: 28058812
Dyer SM, Gomersall JS, Smithers LG, Davy C, Coleman DT, Street JM
Crit Rev Food Sci Nutr 2017 May 3;57(7):1365-1376. doi: 10.1080/10408398.2014.991816. PMID: 26083620
Kaminska D, Käkelä P, Nikkola E, Venesmaa S, Ilves I, Herzig KH, Kolehmainen M, Karhunen L, Kuusisto J, Gylling H, Pajukanta P, Laakso M, Pihlajamäki J
Obesity (Silver Spring) 2016 Oct;24(10):2033-7. Epub 2016 Aug 12 doi: 10.1002/oby.21587. PMID: 27515906Free PMC Article
Mottaghi A, Mirmiran P, Delshad H, Azizi F
J Am Coll Nutr 2016 Sep-Oct;35(7):587-596. Epub 2015 Dec 9 doi: 10.1080/07315724.2015.1046195. PMID: 26650689

Recent systematic reviews

Lindsay AC, Sitthisongkram S, Greaney ML, Wallington SF, Ruengdej P
Int J Environ Res Public Health 2017 Apr 19;14(4) doi: 10.3390/ijerph14040436. PMID: 28422081Free PMC Article
Tremmel M, Gerdtham UG, Nilsson PM, Saha S
Int J Environ Res Public Health 2017 Apr 19;14(4) doi: 10.3390/ijerph14040435. PMID: 28422077Free PMC Article
Proietti M, Guiducci E, Cheli P, Lip GY
Stroke 2017 Apr;48(4):857-866. Epub 2017 Mar 6 doi: 10.1161/STROKEAHA.116.015984. PMID: 28265017
Kolahdooz F, Sadeghirad B, Corriveau A, Sharma S
Crit Rev Food Sci Nutr 2017 May 3;57(7):1316-1327. doi: 10.1080/10408398.2014.913003. PMID: 26566086
Dyer SM, Gomersall JS, Smithers LG, Davy C, Coleman DT, Street JM
Crit Rev Food Sci Nutr 2017 May 3;57(7):1365-1376. doi: 10.1080/10408398.2014.991816. PMID: 26083620

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