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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

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.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
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.
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.
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.
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.
Menstrual irregularities
MedGen UID:
56379
Concept ID:
C0156404
Finding
Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.
Diabetes mellitus, insulin-resistant
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.
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.
Pes planus
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.
Truncal 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.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Otitis media
MedGen UID:
45253
Concept ID:
C0029882
Disease or Syndrome
Inflammation or infection of the middle ear.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
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.
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.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
Abnormally high levels of insulin in the blood.(AE)
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.
Diabetes mellitus, insulin-resistant
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.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
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.
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. PMID: 21522186Free PMC Article

Recent clinical studies

Etiology

Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S
Eur J Med Genet 2016 Sep;59(9):444-51. Epub 2016 Aug 12 doi: 10.1016/j.ejmg.2016.08.004. PMID: 27523285Free PMC Article
Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R
J Neuroradiol 2016 Jun;43(3):195-9. Epub 2015 Dec 17 doi: 10.1016/j.neurad.2015.10.005. PMID: 26704672
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. 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. 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

Diagnosis

Bakar AA, Kamal NM, Alsaedi A, Turkistani R, Aldosari D
Medicine (Baltimore) 2017 Mar;96(10):e6192. doi: 10.1097/MD.0000000000006192. PMID: 28272210Free PMC Article
Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S
Eur J Med Genet 2016 Sep;59(9):444-51. Epub 2016 Aug 12 doi: 10.1016/j.ejmg.2016.08.004. PMID: 27523285Free PMC Article
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. 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. 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

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. 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
Sinha SK, Bhangoo A, Anhalt H, Maclaren N, Marshall JD, Collin GB, Naggert JK, Ten S
J Pediatr Endocrinol Metab 2007 Sep;20(9):1045-52. PMID: 18038714
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

Prognosis

Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, Ghorbel A, Marshall JD, Naggert JK, Masmoudi S
Eur J Med Genet 2016 Sep;59(9):444-51. Epub 2016 Aug 12 doi: 10.1016/j.ejmg.2016.08.004. PMID: 27523285Free PMC Article
Laxer C, Rahman SA, Sherif M, Tahir S, Cayir A, Demirbilek H, Hussain K
J Pediatr Endocrinol Metab 2016 May 1;29(5):585-9. doi: 10.1515/jpem-2015-0249. PMID: 26910739
Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R
J Neuroradiol 2016 Jun;43(3):195-9. Epub 2015 Dec 17 doi: 10.1016/j.neurad.2015.10.005. PMID: 26704672
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. 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. PMID: 25296579

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. 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. 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. PMID: 25296579
Kuburović V, Marshall JD, Collin GB, Nykamp K, Kuburović N, Milenković T, Rakić S, Djuric M, Ječmenica J, Milenković S, Naggert JK
Clin Dysmorphol 2013 Jan;22(1):7-12. doi: 10.1097/MCD.0b013e32835b9017. PMID: 23188138Free PMC Article
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. 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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