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Summary
WOLFRAM SYNDROME 2 (WFS2)
604928
OMIM = Online Medalian Inheritance of Men
3463
4q24
rare
autosomal recessive
mutation in the CISD2 gene
symptoms
depression
diabetes mellitus
hearing defect, deafness
onset, adolescent
onset, childhood
optic atrophy
optic neuropathy
renal dysfunction, renal defects
laboratory finding
Literature
Noone D,Licht CAn update on the pathomechanisms and future therapies of Alport syndromePediatr Nephrol2871025-10362013