Details of Disease

General Information of Disease (ID: DISFVX55)

Disease Name Alstrom syndrome
Synonyms Alstrom's syndrome; Alstrom syndrome; ALMS; Alstrm syndrome; ALSS; Alstrm Syndrome
Definition
A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DIS10G4I: Ciliopathy
DISFVX55: Alstrom syndrome
Disease Identifiers
MONDO ID
MONDO_0008763
MESH ID
D056769
UMLS CUI
C0268425
OMIM ID
203800
MedGen ID
78675
Orphanet ID
64
SNOMED CT ID
63702009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DYSF TTA7MXQ moderate Genetic Variation [1]
CEP290 TT3XBOV Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC4A5 DTCL4P8 Strong Biomarker [3]
------------------------------------------------------------------------------------
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDH23 OTOJGQ7S Strong Genetic Variation [4]
DCTN1 OT5B51FJ Strong Biomarker [5]
LBX2 OTGWRSI2 Strong Altered Expression [6]
MKKS OTLF5T11 Strong Genetic Variation [7]
ALMS1 OTW66JKS Definitive Autosomal recessive [8]
------------------------------------------------------------------------------------

References

1 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14.
2 In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.Exp Eye Res. 2019 Sep;186:107721. doi: 10.1016/j.exer.2019.107721. Epub 2019 Jul 11.
3 Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family.Biochim Biophys Acta. 2000 Sep 7;1493(1-2):215-8. doi: 10.1016/s0167-4781(00)00149-4.
4 Triple Vectors Expand AAV Transfer Capacity in the Retina.Mol Ther. 2018 Feb 7;26(2):524-541. doi: 10.1016/j.ymthe.2017.11.019. Epub 2017 Dec 5.
5 Human DCTN1: genomic structure and evaluation as a candidate for Alstrm syndrome.Genomics. 1998 Nov 1;53(3):359-64. doi: 10.1006/geno.1998.5542.
6 Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alstrm syndrome.Genomics. 2001 Jun 1;74(2):219-27. doi: 10.1006/geno.2001.6539.
7 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.
8 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.