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Wolfram syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.
Uniprot Description A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent.
Mondo Term and Equivalent IDs
MONDO:0011502:  Wolfram syndrome 2
MESH:C565733: 
UMLS:C1858028: