Details of Disease

General Information of Disease (ID: DISN16XW)

Disease Name Wolfram syndrome
Synonyms
DIDMOAD syndrome; DIDMOAD; Wolfram syndrome; diabetes mellitus and insipidus with optic atrophy and deafness; WFS; diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome; diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Definition
Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISN16XW: Wolfram syndrome
Disease Identifiers
MONDO ID
MONDO_0018105
MESH ID
D014929
UMLS CUI
C0043207
MedGen ID
21923
Orphanet ID
3463
SNOMED CT ID
70694009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WFS1 OTYF2UYI Definitive Autosomal recessive [1]
BPIFA2 OTLFSDZD Definitive Altered Expression [2]
CISD2 OTVS7S2H Definitive Autosomal recessive [1]
DIAPH1 OTZBYPLH Definitive Biomarker [3]
EVC OTRVYMXJ Definitive Biomarker [4]
NCS1 OT6JHAWM Definitive Biomarker [5]
POU4F3 OTILD0XS Definitive Biomarker [3]
PSPH OTV1PVAX Definitive Altered Expression [2]
PSPN OT54LLZJ Definitive Altered Expression [2]
RIDA OTW4098I Definitive Altered Expression [2]
STXBP3 OTTTYMAQ Definitive Altered Expression [2]
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⏷ Show the Full List of 11 DOT(s)

References

1 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.
2 Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.Sci Rep. 2019 Mar 26;9(1):5199. doi: 10.1038/s41598-019-41604-4.
3 DFNA54, a third locus for low-frequency hearing loss.J Mol Med (Berl). 2004 Nov;82(11):775-80. doi: 10.1007/s00109-004-0597-1. Epub 2004 Oct 13.
4 Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.Int J Mol Med. 2004 Nov;14(5):903-7.
5 ER-mitochondria cross-talk is regulated by the Ca(2+) sensor NCS1 and is impaired in Wolfram syndrome.Sci Signal. 2018 Oct 23;11(553):eaaq1380. doi: 10.1126/scisignal.aaq1380.