Wolfram syndrome, mitochondrial form

General Information (adopted from Orphanet):

Synonyms, Signs: Diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form
DIDMOAD syndrome, mitochondrial form
Number of Symptoms 0
OrphanetNr:
OMIM Id: 598500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

Initially thought to be a mitochondrial disorder, wolfram syndrome (WS) is now attributed to mutation in the WS1 gene, which codes for an endoplasmic reticulum (ER) transmembrane protein termed wolframin (PMID:25330715).

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: