Alstrom Syndrome

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OMIM 57 203800 Disease Ontology 12 DOID:0050473 MeSH 44 D056769 NCIt 50 C84549 SNOMED-CT 68 63702009 Orphanet 59 ORPHA64

MESH via Orphanet 45 D056769 UMLS via Orphanet 74 C0268425 MedGen 42 C0268425 KEGG 37 H00417 SNOMED-CT via HPO 69 258211005 48723006 197811007 236423003 42399005 48638002 52845002 69878008 422775003 66383009 65363002 21186006 246923005 80093006 128306009 193570009 247053007 95723009 28835009 312917007 246622003 409668002 65956007 563001 21061000119107 35489007 78667006 408856003 408857007 43614003 12479006 191736004 4754008 370999003 40930008 24184005 38341003 2109003 123527003 400179000 83469008 48606007 80182007 15771004 402599005 72129000 1151008 267628004 299033004 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 19943007 197321007 442191002 34742003 278040002 56317004 42343007 84114007 195021004 399020009 16294009 203534009 53226007 248311001 28689008 428255004 11399002 697898008 70995007 409623005 195967001 991000119106 35885006 51615001 80515008 38716007 111266001 64217002 414564002 166603001 166643006 75183008 190785000 237836003 82054006 123982003 44054006 237570007 128601007 699014000 276411001 235886005 123799005 197679002 197284004 more UMLS 73 C0268425

NIH Rare Diseases : ⁵³ Alström 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. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner. While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.

MalaCards based summary : Alstrom Syndrome, also known as alms, is related to retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome and bardet-biedl syndrome 16. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). The drugs alpha-MSH and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are nystagmus and depressivity

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.

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Alström syndrome (AS), also called Alström–Hallgren syndrome, is a rare genetic disorder caused by... 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.