Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 


Wolfram syndrome 2
604928


Pedigree


Diagnostic
strategy


Forms


Print page


Sprache
wechseln

Wolfram syndrome 2

Clinical feature: 

Definition: Wolfram syndrome is generally characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. This form is caused by CISD2 mutations and exhibits an autosomal recessive pattern of inheritance.

Systematic link table: 

Wolfram syndrome
Diabetes insipidus and mellitus with optic atrophy and deafness
wolfram syndrome 1
WFS1
wolfram syndrome 2
CISD2

Literature: 

Amr S et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
Chen YF et al. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.
El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.