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Alstrom syndrome(ALMS)

MedGen UID:
78675
Concept ID:
C0268425
Congenital Abnormality; Disease or Syndrome
Synonyms: ALMS; Alstrom's syndrome; Alström syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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).
SNOMED CT: Alstrom syndrome (63702009)
 
Gene (location): ALMS1 (2p13.1)
OMIM®: 203800
Orphanet: ORPHA64

Disease characteristics

Excerpted from the GeneReview: Alström Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, even within the same family. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to type 2 diabetes in the majority by the third decade. Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. More than 60% of individuals with Alström syndrome develop cardiac failure as a result of dilated or restrictive cardiomyopathy. About 50% of individuals have delay in early developmental milestones; intelligence is normal. Liver involvement includes elevation of transaminases, steatosis, hepatosplenomegaly, and steatohepatitis. Portal hypertension and cirrhosis can lead to hepatic encephalopathy and life-threatening esophageal varices. Pulmonary dysfunction and severe renal disease may also develop. End-stage renal disease (ESRD) can occur as early as the late teens. [from GeneReviews]
Authors:
Jan D Marshall  |  Richard B Paisey  |  Catherine Carey, et. al.   view full author information

Additional descriptions

From OMIM
Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by Collin et al., 2002; Marshall et al., 2007).  http://www.omim.org/entry/203800
From GHR
Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.  http://ghr.nlm.nih.gov/condition/alstrom-syndrome

Clinical features

Atherosclerosis
MedGen UID:
13948
Concept ID:
C0004153
Disease or Syndrome
Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. Atherosclerosis can lead to serious problems, including. -Coronary artery disease. These arteries supply blood to your heart. When they are blocked, you can suffer angina or a heart attack. -Carotid artery disease. These arteries supply blood to your brain. When they are blocked you can suffer a stroke. -Peripheral arterial disease. These arteries are in your arms, legs and pelvis. When they are blocked, you can suffer from numbness, pain and sometimes infections. Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency. A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. Lifestyle changes can also help. These include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. . NIH: National Heart, Lung, and Blood Institute.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Renovascular hypertension
MedGen UID:
43786
Concept ID:
C0020545
Disease or Syndrome
Hypertension due to RENAL ARTERY OBSTRUCTION or compression.
BLOOD GROUP--DIEGO SYSTEM
MedGen UID:
8349
Concept ID:
C0011848
Disease or Syndrome
Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water. DI is different from diabetes mellitus (DM), which involves insulin problems and high blood sugar. The symptoms can be similar. However, DI is related to how your kidneys handle fluids. It's much less common than DM. Urine and blood tests can show which one you have. Usually, DI is caused by a problem with your pituitary gland or your kidneys. Treatment depends on the cause of the problem. Medicines can often help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Diabetes mellitus type 2
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. A blood test can show if you have diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include. -Fatigue. -Weight gain. -A puffy face. -Cold intolerance. -Joint and muscle pain. -Constipation. -Dry skin. -Dry, thinning hair. -Decreased sweating. -Heavy or irregular menstrual periods and fertility problems. -Depression. -Slowed heart rate. To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Menstrual irregularities
MedGen UID:
56379
Concept ID:
C0156404
Finding
Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.
Multinodular goiter
MedGen UID:
87431
Concept ID:
C0342208
Disease or Syndrome
Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.
Insulin resistant diabetes
MedGen UID:
163439
Concept ID:
C0854110
Disease or Syndrome
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
Primary hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinitis pigmentosa
MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Subcapsular cataract
MedGen UID:
65903
Concept ID:
C0235259
Finding
A cataract that affects the region of the lens directly beneath the capsule of the lens.
Legal blindness
MedGen UID:
78763
Concept ID:
C0271215
Disease or Syndrome
Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Chorioretinal abnormality
MedGen UID:
871350
Concept ID:
C4025844
Anatomical Abnormality
An abnormality of the choroid and retina.
Renovascular hypertension
MedGen UID:
43786
Concept ID:
C0020545
Disease or Syndrome
Hypertension due to RENAL ARTERY OBSTRUCTION or compression.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
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. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome. Symptoms of PCOS include: -Infertility. -Pelvic pain. -Excess hair growth on the face, chest, stomach, thumbs, or toes. -Baldness or thinning hair. -Acne, oily skin, or dandruff. -Patches of thickened dark brown or black skin. . Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure. NIH: National Institute of Child Health and Human Development.
Renal failure syndrome
MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Tubulointerstitial nephritis
MedGen UID:
11952
Concept ID:
C0041349
Disease or Syndrome
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Vesicoureteral reflux 1
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Congenital anomaly of testis
MedGen UID:
539909
Concept ID:
C0266423
Congenital Abnormality
An anomaly of the testicle (the male gonad).
Glomerulopathy
MedGen UID:
451033
Concept ID:
C0268731
Disease or Syndrome
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Decreased fertility
MedGen UID:
99258
Concept ID:
C0520927
Finding
Primary hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Abnormality of female external genitalia
MedGen UID:
867445
Concept ID:
C4021822
Anatomical Abnormality
An abnormality of the female external genitalia.
Abnormality of the renal tubule
MedGen UID:
867449
Concept ID:
C4021826
Anatomical Abnormality
An abnormality of the renal tubules.
Abnormality of the urethra
MedGen UID:
871336
Concept ID:
C4025826
Anatomical Abnormality
An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
Flatfoot
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
An abnormality affecting one or both hands.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
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.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Hearing loss, progressive sensorineural
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS5 (606053), which maps to chromosome 2q; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; and AUTS18 (615032), associated with mutation in the CHD8 gene (610528). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
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.
Obsessive-compulsive behavior
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Cerebellar hypoplasia and atrophy
MedGen UID:
480852
Concept ID:
C3279222
Finding
Growth hormone deficiency
MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
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.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include. -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.
Pulmonary hypertension
MedGen UID:
9376
Concept ID:
C0020542
Finding
Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. . Symptoms of PH include. -Shortness of breath during routine activity, such as climbing two flights of stairs. -Tiredness. -Chest pain. -A racing heartbeat. -Pain on the upper right side of the abdomen. -Decreased appetite. As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. . There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue gets thick and stiff. That makes it hard for you to catch your breath, and your blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue diseases, and interstitial lung disease. Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. In most cases, the cause cannot be found. This is called idiopathic pulmonary fibrosis. Symptoms include. -Shortness of breath. -A dry, hacking cough that doesn't get better. -Fatigue. -Weight loss for no known reason. -Aching muscles and joints. -Clubbing, which is the widening and rounding of the tips of the fingers or toes. Your doctor may use your medical history, imaging tests, a biopsy, and lung function tests to diagnose pulmonary fibrosis. There is no cure. Treatments can help with symptoms and improve your quality of life. They include medicines, oxygen therapy, pulmonary rehabilitation, or a lung transplant. NIH: National Heart, Lung, and Blood Institute.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
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.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Liver Cirrhosis
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Abnormal liver function
MedGen UID:
39248
Concept ID:
C0086565
Pathologic Function
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Chronic hepatic failure
MedGen UID:
451049
Concept ID:
C0400930
Disease or Syndrome
Chronic active hepatitis
MedGen UID:
105441
Concept ID:
C0520463
Disease or Syndrome
An aggressive form of chronic hepatitis involving extensive liver damage and cell injury beyond the portal tract.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
The presence of steatosis in the liver.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is a chronic disease that affects your airways. Your airways are tubes that carry air in and out of your lungs. If you have asthma, the inside walls of your airways become sore and swollen. That makes them very sensitive, and they may react strongly to things that you are allergic to or find irritating. When your airways react, they get narrower and your lungs get less air. Symptoms of asthma include. -Wheezing. -Coughing, especially early in the morning or at night. -Chest tightness. -Shortness of breath. Not all people who have asthma have these symptoms. Having these symptoms doesn't always mean that you have asthma. Your doctor will diagnose asthma based on lung function tests, your medical history, and a physical exam. You may also have allergy tests. When your asthma symptoms become worse than usual, it's called an asthma attack. Severe asthma attacks may require emergency care, and they can be fatal. Asthma is treated with two kinds of medicines: quick-relief medicines to stop asthma symptoms and long-term control medicines to prevent symptoms. . NIH: National Heart, Lung, and Blood Institute.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Chronic active hepatitis
MedGen UID:
105441
Concept ID:
C0520463
Disease or Syndrome
An aggressive form of chronic hepatitis involving extensive liver damage and cell injury beyond the portal tract.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
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.
Diabetes mellitus type 2
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. A blood test can show if you have diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Insulin resistance
MedGen UID:
43904
Concept ID:
C0021655
Pathologic Function
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
High density lipoprotein decreased
MedGen UID:
57731
Concept ID:
C0151691
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Dyslipidemia
MedGen UID:
66067
Concept ID:
C0242339
Disease or Syndrome
An abnormality in the of lipid metabolism.
Hyperuricemia
MedGen UID:
149260
Concept ID:
C0740394
Disease or Syndrome
Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.
Insulin resistant diabetes
MedGen UID:
163439
Concept ID:
C0854110
Disease or Syndrome
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Laboratory or Test Result
An abnormal increase in the level of triglycerides in the blood.
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.
Kyphosis deformity of spine
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.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Accelerated skeletal maturation
MedGen UID:
154262
Concept ID:
C0545053
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Gingivitis
MedGen UID:
4895
Concept ID:
C0017574
Disease or Syndrome
Inflammation of gum tissue (GINGIVA) without loss of connective tissue.
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.
Tooth malformation
MedGen UID:
11849
Concept ID:
C0040427
Congenital Abnormality
Congenital absence of or defects in structures of the teeth.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Abnormality of adipose tissue
MedGen UID:
867166
Concept ID:
C4021524
Anatomical Abnormality
An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.
Acanthosis nigricans
MedGen UID:
54
Concept ID:
C0000889
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Alstrom syndrome in Orphanet.

Professional guidelines

PubMed

Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB
Eur J Hum Genet 2011 Oct;19(10) Epub 2011 Apr 27 doi: 10.1038/ejhg.2011.72. [Epub ahead of print] PMID: 21522186Free PMC Article

Recent clinical studies

Etiology

Paisey RB, Smith J, Carey C, Barrett T, Campbell F, Maffei P, Marshall JD, Paisey C, Steeds RP, Edwards NC, Bunce S, Geberhiwot T
J Clin Endocrinol Metab 2015 Aug;100(8):E1116-24. Epub 2015 Jun 11 doi: 10.1210/jc.2015-1577. [Epub ahead of print] PMID: 26066530Free PMC Article
Khan AO, Bifari IN, Bolz HJ
Ophthalmology 2015 Aug;122(8):1726-7.e2. Epub 2015 Apr 10 doi: 10.1016/j.ophtha.2015.03.001. [Epub ahead of print] PMID: 25864795
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK
J Hum Genet 2015 Jan;60(1):1-9. Epub 2014 Oct 9 doi: 10.1038/jhg.2014.85. [Epub ahead of print] PMID: 25296579
Bahmad Jr F, Costa CS, Teixeira MS, Barros Filho Jd, Viana LM, Marshall J
Braz J Otorhinolaryngol 2014 Apr;80(2):99-104. PMID: 24830966
Frölander HE, Möller C, Marshall JD, Sundqvist A, Rönnåsen B, Falkensson L, Lyxell B
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):530-6. Epub 2014 Jan 9 doi: 10.1016/j.ijporl.2013.12.038. [Epub ahead of print] PMID: 24485176

Diagnosis

Van Groenendael S, Giacovazzi L, Davison F, Holtkemper O, Huang Z, Wang Q, Parkinson K, Barrett T, Geberhiwot T
Orphanet J Rare Dis 2015 Nov 24;10:149. doi: 10.1186/s13023-015-0366-y. [Epub ahead of print] PMID: 26603037Free PMC Article
Paisey RB, Smith J, Carey C, Barrett T, Campbell F, Maffei P, Marshall JD, Paisey C, Steeds RP, Edwards NC, Bunce S, Geberhiwot T
J Clin Endocrinol Metab 2015 Aug;100(8):E1116-24. Epub 2015 Jun 11 doi: 10.1210/jc.2015-1577. [Epub ahead of print] PMID: 26066530Free PMC Article
Bronson SC, Anand Moses CR, Periyandavar I, Dharmarajan P, Suresh E, Shanmugam A, Vasuki R, Venkatesh D, Amudha J
J R Coll Physicians Edinb 2015 Mar;45(1):33-7. doi: 10.4997/JRCPE.2015.108. PMID: 25874828
Long PA, Evans JM, Olson TM
Am J Med Genet A 2015 Apr;167A(4):886-90. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36994. [Epub ahead of print] PMID: 25706677Free PMC Article
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK
J Hum Genet 2015 Jan;60(1):1-9. Epub 2014 Oct 9 doi: 10.1038/jhg.2014.85. [Epub ahead of print] PMID: 25296579

Therapy

Mokashi A, Cummings EA
Pediatr Diabetes 2011 May;12(3 Pt 2):270-5. Epub 2011 Mar 29 doi: 10.1111/j.1399-5448.2010.00698.x. [Epub ahead of print] PMID: 21518413
Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT
J Med Life 2008 Jul-Sep;1(3):254-61. PMID: 20108502
Paisey RB, Hodge D, Williams K
J Hum Nutr Diet 2008 Jun;21(3):268-74. doi: 10.1111/j.1365-277X.2008.00866.x. PMID: 18477182
Toulany A, Shea S, Warren AE
J Am Soc Echocardiogr 2006 Jan;19(1):14-20. doi: 10.1016/j.echo.2005.07.008. PMID: 16423664
Tai TS, Lin SY, Sheu WH
Horm Res 2003;60(6):297-301. doi: 74248. PMID: 14646408

Prognosis

Paisey RB, Smith J, Carey C, Barrett T, Campbell F, Maffei P, Marshall JD, Paisey C, Steeds RP, Edwards NC, Bunce S, Geberhiwot T
J Clin Endocrinol Metab 2015 Aug;100(8):E1116-24. Epub 2015 Jun 11 doi: 10.1210/jc.2015-1577. [Epub ahead of print] PMID: 26066530Free PMC Article
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK
J Hum Genet 2015 Jan;60(1):1-9. Epub 2014 Oct 9 doi: 10.1038/jhg.2014.85. [Epub ahead of print] PMID: 25296579
Frölander HE, Möller C, Marshall JD, Sundqvist A, Rönnåsen B, Falkensson L, Lyxell B
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):530-6. Epub 2014 Jan 9 doi: 10.1016/j.ijporl.2013.12.038. [Epub ahead of print] PMID: 24485176
Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R
Pediatr Cardiol 2013 Feb;34(2):455-8. Epub 2012 Mar 24 doi: 10.1007/s00246-012-0296-6. [Epub ahead of print] PMID: 22447358Free PMC Article
Mokashi A, Cummings EA
Pediatr Diabetes 2011 May;12(3 Pt 2):270-5. Epub 2011 Mar 29 doi: 10.1111/j.1399-5448.2010.00698.x. [Epub ahead of print] PMID: 21518413

Clinical prediction guides

Edwards NC, Moody WE, Yuan M, Warfield AT, Cramb R, Paisey RB, Geberhiwot T, Steeds RP
Orphanet J Rare Dis 2015 Jun 24;10:83. doi: 10.1186/s13023-015-0292-z. [Epub ahead of print] PMID: 26104972Free PMC Article
Paisey RB, Smith J, Carey C, Barrett T, Campbell F, Maffei P, Marshall JD, Paisey C, Steeds RP, Edwards NC, Bunce S, Geberhiwot T
J Clin Endocrinol Metab 2015 Aug;100(8):E1116-24. Epub 2015 Jun 11 doi: 10.1210/jc.2015-1577. [Epub ahead of print] PMID: 26066530Free PMC Article
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK
J Hum Genet 2015 Jan;60(1):1-9. Epub 2014 Oct 9 doi: 10.1038/jhg.2014.85. [Epub ahead of print] PMID: 25296579
Frölander HE, Möller C, Marshall JD, Sundqvist A, Rönnåsen B, Falkensson L, Lyxell B
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):530-6. Epub 2014 Jan 9 doi: 10.1016/j.ijporl.2013.12.038. [Epub ahead of print] PMID: 24485176
Corbetti F, Razzolini R, Bettini V, Marshall JD, Naggert J, Tona F, Milan G, Maffei P
Int J Cardiol 2013 Aug 20;167(4):1257-63. Epub 2012 Apr 10 doi: 10.1016/j.ijcard.2012.03.160. [Epub ahead of print] PMID: 22498418Free PMC Article

Recent systematic reviews

Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

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