Alstrom Syndrome (ALMS)

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Disease Ontology 12 DOID:0050473 OMIM 56 203800 KEGG 36 H00417 MeSH 43 D056769 NCIt 49 C84549 SNOMED-CT 67 63702009 MESH via Orphanet 44 D056769

ICD10 via Orphanet 33 E34.8 UMLS via Orphanet 72 C0268425 Orphanet 58 ORPHA64 MedGen 41 C0268425 SNOMED-CT via HPO 68 111266001 11399002 1151008 123527003 123799005 123982003 12479006 128306009 128601007 128613002 15771004 16294009 166603001 166643006 190785000 191736004 193570009 195021004 195967001 197284004 197321007 197679002 197811007 19943007 203534009 21061000119107 2109003 21186006 224958001 228156007 235886005 236423003 237570007 237836003 24184005 246545002 246622003 246923005 247053007 247578003 248311001 258211005 267628004 276411001 278040002 28689008 28835009 299033004 312917007 313307000 34742003 35489007 35885006 370999003 38341003 38716007 399020009 400179000 402599005 408856003 408857007 40930008 409623005 409668002 414564002 422775003 42343007 42399005 428255004 43614003 44054006 442191002 4754008 48606007 48638002 48723006 51615001 52845002 53226007 563001 56317004 64217002 65363002 65956007 66383009 697898008 69878008 699014000 70995007 72129000 75183008 78667006 7973008 80093006 80182007 80515008 82054006 83469008 84114007 84757009 91138005 91175000 95723009 991000119106 more UMLS 71 C0268425

Genetics Home Reference : ²⁵ 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 (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.

MalaCards based summary : Alstrom Syndrome, also known as alms, is related to bardet-biedl syndrome 2 and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart, and related phenotypes are short stature and truncal obesity

Disease Ontology : ¹² An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has material basis in mutations in the ALMS1 gene.

NIH Rare Diseases : ⁵² Alstrom syndrome is a rare genetic disorder that affects many body systems. Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy ). Over time, diabetes mellitus , liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop. Alstrom syndrome is caused by mutations in the ALMS1 gene . It is inherited in an autosomal recessive manner. While there is no specific treatment for Alstrom syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.

OMIM : ⁵⁶ 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). (203800)

KEGG : ³⁶ Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS. However, it is not yet known how this gene causes the disorder.

UniProtKB/Swiss-Prot : ⁷³ Alstrom syndrome: A rare autosomal recessive disorder characterized by progressive cone- rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.

Wikipedia : ⁷⁴ Alstrom syndrome (AS), also called Alstrom-Hallgren syndrome, is a very rare autosomal recessive genetic... more...

GeneReviews: NBK1267

Clinical features from OMIM:

203800

Search NIH Clinical Center for Alstrom Syndrome

Search GEO for disease gene expression data for Alstrom Syndrome.