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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
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 recessive inheritance (HPO, OMIM, Orphanet)
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.  https://ghr.nlm.nih.gov/condition/alstrom-syndrome

Clinical features

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.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Renovascular hypertension
MedGen UID:
506544
Concept ID:
CN117707
Finding
The presence of hypertension related to stenosis of the renal artery.
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.
Hypergonadotropic 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.
Insulin-resistant diabetes mellitus
MedGen UID:
504615
Concept ID:
CN000777
Finding
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.
Diabetes insipidus
MedGen UID:
504639
Concept ID:
CN000819
Finding
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
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.
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.
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.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Chorioretinal abnormality
MedGen UID:
425000
Concept ID:
CN000498
Finding
An abnormality of the choroid and retina.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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).
Glomerulopathy
MedGen UID:
451033
Concept ID:
C0268731
Disease or Syndrome
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Hypergonadotropic 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 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.
Abnormality of the testis
MedGen UID:
446334
Concept ID:
CN000036
Finding
An anomaly of the testicle (the male gonad).
Abnormality of the renal tubule
MedGen UID:
424979
Concept ID:
CN000091
Finding
An abnormality of the renal tubules.
Tubulointerstitial nephritis
MedGen UID:
505029
Concept ID:
CN001782
Finding
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Abnormality of the hand
MedGen UID:
427857
Concept ID:
CN001087
Finding
An abnormality affecting one or both hands.
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.
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.
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.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Dilated cardiomyopathy
MedGen UID:
504887
Concept ID:
CN001497
Finding
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Renovascular hypertension
MedGen UID:
506544
Concept ID:
CN117707
Finding
The presence of hypertension related to stenosis of the renal artery.
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.
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.
Chronic hepatic failure
MedGen UID:
451049
Concept ID:
C0400930
Disease or Syndrome
Subclinical abnormal liver function tests
MedGen UID:
333969
Concept ID:
C1842003
Finding
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.
Hepatic steatosis
MedGen UID:
427871
Concept ID:
CN001278
Finding
The presence of steatosis in the liver.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Chronic active hepatitis
MedGen UID:
500857
Concept ID:
CN176777
Finding
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.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
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.
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).
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.
Aplasia/Hypoplasia of the cerebellum
MedGen UID:
480852
Concept ID:
C3279222
Finding
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.
Cognitive impairment
MedGen UID:
451875
Concept ID:
CN117436
Finding
Abnormality in the process of thought including the ability to process information.
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.
Recurrent pneumonia
MedGen UID:
349099
Concept ID:
C1859117
Finding
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.
Respiratory function loss
MedGen UID:
892404
Concept ID:
C4020855
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide.
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.
Chronic hepatic failure
MedGen UID:
451049
Concept ID:
C0400930
Disease or Syndrome
Subclinical abnormal liver function tests
MedGen UID:
333969
Concept ID:
C1842003
Finding
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.
Hepatic steatosis
MedGen UID:
427871
Concept ID:
CN001278
Finding
The presence of steatosis in the liver.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Chronic active hepatitis
MedGen UID:
500857
Concept ID:
CN176777
Finding
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.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Recurrent pneumonia
MedGen UID:
349099
Concept ID:
C1859117
Finding
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Chronic active hepatitis
MedGen UID:
500857
Concept ID:
CN176777
Finding
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.
Hypoalphalipoproteinemia
MedGen UID:
96877
Concept ID:
C0473527
Disease or Syndrome
Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.
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.
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Laboratory or Test Result
An abnormal increase in the level of triglycerides in the blood.
Abnormality of lipid metabolism
MedGen UID:
892402
Concept ID:
C4025650
Finding
Insulin-resistant diabetes mellitus
MedGen UID:
504615
Concept ID:
CN000777
Finding
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.
Insulin resistance
MedGen UID:
504630
Concept ID:
CN000801
Finding
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
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.
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.
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.
Hyperostosis frontalis interna
MedGen UID:
505641
Concept ID:
CN003933
Finding
Bony overgrowth of the internal (endosteal) surface of the frontal bone.
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.
Abnormality of the teeth
MedGen UID:
78084
Concept ID:
C0262444
Finding
Round, full face
MedGen UID:
341560
Concept ID:
C1856468
Finding
The facial appearance is more circular than usual as viewed from the front.
Hyperostosis frontalis interna
MedGen UID:
505641
Concept ID:
CN003933
Finding
Bony overgrowth of the internal (endosteal) surface of the frontal bone.
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.
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. .
Acanthosis nigricans
MedGen UID:
504659
Concept ID:
CN000895
Finding
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
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.
Hypergonadotropic 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:
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.
Insulin-resistant diabetes mellitus
MedGen UID:
504615
Concept ID:
CN000777
Finding
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.
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.
Gynecomastia
MedGen UID:
409558
Concept ID:
C1963120
Finding

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
Papadakis M, Meyer A, Schuster F, Weyerbrock N, Corinth C, Dotzenrath C
Fam Cancer 2015 Dec;14(4):599-602. doi: 10.1007/s10689-015-9816-x. PMID: 26048691
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

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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