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Prader-Willi syndrome(PWS)

MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Synonyms: Obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet; Prader Labhart Willi syndrome; PWS
Modes of inheritance:
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Prader-Willi syndrome (89392001)
 
Genes (locations): HERC2 (15q13.1); IPW (15q11.2); MAGEL2 (15q11.2); MKRN3 (15q11.2); MKRN3-AS1 (15q11-q13); NDN (15q11.2); NPAP1 (15q11.2); PWAR1 (15q11.2); PWRN1 (15q11.2); SNORD115-1 (15q11.2); SNORD116-1 (15q11.2); SNRPN (15q11.2)
OMIM®: 176270
Orphanet: ORPHA739

Disease characteristics

Excerpted from the GeneReview: Prader-Willi Syndrome
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. [from GeneReviews]
Authors:
Daniel J Driscoll  |  Jennifer L Miller  |  Stuart Schwartz, et. al.   view full author information

Additional descriptions

From OMIM
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features.  http://www.omim.org/entry/176270
From GHR
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).  https://ghr.nlm.nih.gov/condition/prader-willi-syndrome

Clinical features

Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Delayed Puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(AE)
Hypogonadism, Isolated Hypogonadotropic
MedGen UID:
483350
Concept ID:
C3489396
Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed').
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Iris hypopigmentation
MedGen UID:
509721
Concept ID:
C0154920
Finding
An abnormal reduction in the amount of pigmentation of the iris.
Hypermetropia
MedGen UID:
504484
Concept ID:
CN000506
Finding
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(AE)
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Small scrotum
MedGen UID:
98138
Concept ID:
C0431659
Finding
Apparently small scrotum for age.
Clitoral hypoplasia
MedGen UID:
336198
Concept ID:
C1844527
Anatomical Abnormality
Developmental hypoplasia of the clitoris.
Hypoplastic labia minora
MedGen UID:
376558
Concept ID:
C1849295
Finding
Hypogonadism, Isolated Hypogonadotropic
MedGen UID:
483350
Concept ID:
C3489396
Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Narrow palm
MedGen UID:
346628
Concept ID:
C1857632
Finding
For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Abdominal obesity
MedGen UID:
90229
Concept ID:
C0311277
Disease or Syndrome
A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Obesity
MedGen UID:
368429
Concept ID:
C1963185
Finding
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Mental or Behavioral Dysfunction
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Sign or Symptom
A degree of language development that is significantly below the norm for a child of a specified age.
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Cognitive delay
MedGen UID:
351243
Concept ID:
C1864897
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Poor gross motor coordination
MedGen UID:
357363
Concept ID:
C1867863
Finding
Poor fine motor coordination
MedGen UID:
356863
Concept ID:
C1867864
Finding
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
No development of motor milestones
MedGen UID:
892432
Concept ID:
C4020874
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Specific learning disability
MedGen UID:
504802
Concept ID:
CN001216
Finding
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute.
Hypoventilation
MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Decreased muscle mass
MedGen UID:
373256
Concept ID:
C1837108
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Temperature instability
MedGen UID:
329973
Concept ID:
C1820737
Finding
Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Hypernasal voice
MedGen UID:
99115
Concept ID:
C0454555
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include . - Getting older . - Being small and thin . - Having a family history of osteoporosis. - Taking certain medicines. - Being a white or Asian woman. - Having osteopenia, which is low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Dolichocephaly
MedGen UID:
504413
Concept ID:
CN000254
Finding
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Narrow nasal bridge
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Finding
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Almond-shaped palpebral fissure
MedGen UID:
870336
Concept ID:
C4024780
Anatomical Abnormality
A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
Dolichocephaly
MedGen UID:
504413
Concept ID:
CN000254
Finding
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
increased sensitivity of the skin to light and other sources of UV
Generalized hypopigmentation
MedGen UID:
340426
Concept ID:
C1849923
Finding
Frontal upsweep of hair
MedGen UID:
436457
Concept ID:
C2675540
Finding
Upward and/or sideward growth of anterior hair.
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Delayed Puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(AE)
Hypogonadism, Isolated Hypogonadotropic
MedGen UID:
483350
Concept ID:
C3489396
Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Griggs JL, Sinnayah P, Mathai ML
Neurosci Biobehav Rev 2015 Dec;59:155-72. Epub 2015 Oct 22 doi: 10.1016/j.neubiorev.2015.10.003. PMID: 26475993
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Rigamonti AE, Grugni G, Marazzi N, Bini S, Bidlingmaier M, Sartorio A
Growth Horm IGF Res 2015 Aug;25(4):168-73. Epub 2015 Jun 3 doi: 10.1016/j.ghir.2015.06.002. PMID: 26059749
Yang H, Zhang M, Song H, Zhu H, Pan H
Congenit Anom (Kyoto) 2015 Nov;55(4):173-7. doi: 10.1111/cga.12111. PMID: 25900037

Diagnosis

Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G
Gene 2016 Jan 10;575(2 Pt 1):353-8. Epub 2015 Sep 1 doi: 10.1016/j.gene.2015.08.058. PMID: 26335514
Hirsch HJ, Eldar-Geva T, Bennaroch F, Pollak Y, Gross-Tsur V
Hum Reprod 2015 Nov;30(11):2587-96. Epub 2015 Sep 6 doi: 10.1093/humrep/dev213. PMID: 26345685
Bennett JA, Germani T, Haqq AM, Zwaigenbaum L
Am J Med Genet A 2015 Dec;167A(12):2936-44. Epub 2015 Aug 29 doi: 10.1002/ajmg.a.37286. PMID: 26331980
Angulo MA, Butler MG, Cataletto ME
J Endocrinol Invest 2015 Dec;38(12):1249-63. Epub 2015 Jun 11 doi: 10.1007/s40618-015-0312-9. PMID: 26062517Free PMC Article
Yang H, Zhang M, Song H, Zhu H, Pan H
Congenit Anom (Kyoto) 2015 Nov;55(4):173-7. doi: 10.1111/cga.12111. PMID: 25900037

Therapy

Bonnot O, Cohen D, Thuilleaux D, Consoli A, Cabal S, Tauber M
Eur J Pediatr 2016 Jan;175(1):9-18. Epub 2015 Nov 19 doi: 10.1007/s00431-015-2670-x. PMID: 26584571
Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G
Gene 2016 Jan 10;575(2 Pt 1):353-8. Epub 2015 Sep 1 doi: 10.1016/j.gene.2015.08.058. PMID: 26335514
Manning KE, McAllister CJ, Ring HA, Finer N, Kelly CL, Sylvester KP, Fletcher PC, Morrell NW, Garnett MR, Manford MR, Holland AJ
J Intellect Disabil Res 2016 Feb;60(2):149-55. Epub 2015 May 27 doi: 10.1111/jir.12203. PMID: 26018613Free PMC Article
Lo ST, Festen DA, Tummers-de Lind van Wijngaarden RF, Collin PJ, Hokken-Koelega AC
Am J Intellect Dev Disabil 2015 Jul;120(4):315-27. doi: 10.1352/1944-7558-120.4.315. PMID: 26161469
Lacroix D, Moutel S, Coupaye M, Huvenne H, Faucher P, Pelloux V, Rouault C, Bastard JP, Cagnard N, Dubern B, Clément K, Poitou C
J Clin Endocrinol Metab 2015 Mar;100(3):850-9. Epub 2014 Dec 5 doi: 10.1210/jc.2014-3127. PMID: 25478934

Prognosis

Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z
PLoS One 2016 Feb 3;11(2):e0147824. doi: 10.1371/journal.pone.0147824. PMID: 26841067Free PMC Article
Hirsch HJ, Eldar-Geva T, Bennaroch F, Pollak Y, Gross-Tsur V
Hum Reprod 2015 Nov;30(11):2587-96. Epub 2015 Sep 6 doi: 10.1093/humrep/dev213. PMID: 26345685
Bedogni G, Grugni G, Tringali G, Agosti F, Sartorio A
Ann Hum Biol 2015;42(6):538-42. Epub 2014 Dec 26 doi: 10.3109/03014460.2014.990922. PMID: 25541275
Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A
J Neurol 2015 Jan;262(1):116-23. Epub 2014 Oct 18 doi: 10.1007/s00415-014-7542-1. PMID: 25326049
Yingjun X, Yi Z, Jianzhu W, Yunxia S, Yongzhen C, Liangying Z, Xiangyi J, Qun F
J Child Neurol 2015 Mar;30(3):371-7. Epub 2014 May 22 doi: 10.1177/0883073814535492. PMID: 24859787

Clinical prediction guides

Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH
Res Dev Disabil 2015 Dec;47:27-38. Epub 2015 Aug 28 doi: 10.1016/j.ridd.2015.08.011. PMID: 26323055
Rigamonti AE, Grugni G, Marazzi N, Bini S, Bidlingmaier M, Sartorio A
Growth Horm IGF Res 2015 Aug;25(4):168-73. Epub 2015 Jun 3 doi: 10.1016/j.ghir.2015.06.002. PMID: 26059749
Tvrdik T, Mason D, Dent KM, Thornton L, Hornton SN, Viskochil DH, Stevenson DA
Am J Med Genet A 2015 May;167A(5):974-82. Epub 2015 Mar 8 doi: 10.1002/ajmg.a.36971. PMID: 25755074
Bedogni G, Grugni G, Tringali G, Agosti F, Sartorio A
Ann Hum Biol 2015;42(6):538-42. Epub 2014 Dec 26 doi: 10.3109/03014460.2014.990922. PMID: 25541275
Laurier V, Lapeyrade A, Copet P, Demeer G, Silvie M, Bieth E, Coupaye M, Poitou C, Lorenzini F, Labrousse F, Molinas C, Tauber M, Thuilleaux D, Jauregi J
J Intellect Disabil Res 2015 May;59(5):411-21. Epub 2014 Jun 20 doi: 10.1111/jir.12140. PMID: 24947991

Recent systematic reviews

Bonnot O, Cohen D, Thuilleaux D, Consoli A, Cabal S, Tauber M
Eur J Pediatr 2016 Jan;175(1):9-18. Epub 2015 Nov 19 doi: 10.1007/s00431-015-2670-x. PMID: 26584571
Bennett JA, Germani T, Haqq AM, Zwaigenbaum L
Am J Med Genet A 2015 Dec;167A(12):2936-44. Epub 2015 Aug 29 doi: 10.1002/ajmg.a.37286. PMID: 26331980
Sedky K, Bennett DS, Pumariega A
J Clin Sleep Med 2014 Apr 15;10(4):403-9. doi: 10.5664/jcsm.3616. PMID: 24733986Free PMC Article
Liu AP, Tang WF, Lau ET, Chan KY, Kan AS, Wong KY, Tso WW, Jalal K, Lee SL, Chau CS, Chung BH
Am J Med Genet A 2013 Jun;161A(6):1309-18. Epub 2013 Apr 30 doi: 10.1002/ajmg.a.35909. PMID: 23633107
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants.
J Clin Endocrinol Metab 2013 Jun;98(6):E1072-87. Epub 2013 Mar 29 doi: 10.1210/jc.2012-3888. PMID: 23543664Free PMC Article

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