WOLFRAM SYNDROME 2 (WFS2)

Question 1

What is  WOLFRAM SYNDROME 2 (WFS2)?

Accepted Answer

rare
autosomal recessive
mutation in the CISD2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Wolfram-Syndrom Typ 2; DIDMOAD-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 604928

Question 4

Which enzymes are involved?

Accepted Answer

CDGSH iron-sulfur domain-containing protein 2

Disease	WOLFRAM SYNDROME 2 (WFS2)
OMIM	604928 OMIM = Online Mendelian Inheritance of Men
Orphanet	3463
Protein (UniProt)	CDGSH iron-sulfur domain-containing protein 2
Gene locus	4q24
ICD	E13.8
Summary	rare autosomal recessive mutation in the CISD2 gene
Laboratory findings
Symptoms	depression diabetes mellitus hearing defect, deafness onset, adolescent onset, childhood optic atrophy optic neuropathy renal dysfunction, renal defects