Details of Disease

General Information of Disease (ID: DISC2P61)

Disease Name Wolfram syndrome 1
Synonyms
Wfs; WOLFRAM syndrome 1; diabetes insipidus and mellitus with optic atrophy and deafness; Wolfram syndrome 1; Wolfram syndrome caused by mutation in WFS1; WFS1 Wolfram syndrome; Wolfram syndrome type 1; WFS1
Definition Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.
Disease Hierarchy
DISYKSRF: Genetic disease
DISN16XW: Wolfram syndrome
DISC2P61: Wolfram syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009101
MESH ID
D014929
UMLS CUI
C4551693
OMIM ID
222300
MedGen ID
1641635

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WFS1 OTYF2UYI Definitive Autosomal recessive [1]
ATP2B2 OT1NPZ9T Limited Biomarker [2]
CISD2 OTVS7S2H Definitive Biomarker [3]
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References

1 Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care. 2011 Jul;34(7):1503-10. doi: 10.2337/dc10-1937. Epub 2011 May 20.
2 In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier.Otol Neurotol. 2008 Sep;29(6):860-7. doi: 10.1097/MAO.0b013e3181825651.
3 Wolfram syndrome 1 and Wolfram syndrome 2.Curr Opin Pediatr. 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf.