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Query
Disease
Symptom
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:
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Pubmed
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ClinVar (via SNiPA)
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