Wolfram syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Diabetes insipidus - diabetes mellitus - optic atrophy - deafness DIDMOAD syndrome |
| Number of Symptoms | 0 |
| OrphanetNr: | 3463 |
| OMIM Id: |
222300
598500 604928 614296 |
| ICD-10: |
E10.7 H48.0 |
| UMLs: |
C0043207 |
| MeSH: |
D014929 |
| MedDRA: |
|
| Snomed: |
70694009 |
Prevalence, inheritance and age of onset:
| Prevalence: | <= 0.62 of 100 000 - PMID: 26742931 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 26742931 [IBIS] |
| Age of onset: |
Childhood - PMID: 26742931 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive syndromic optic atrophy
-Rare eye disease -Rare genetic disease Rare genetic diabetes mellitus -Rare genetic disease Rare insulin-dependent diabetes mellitus -Rare endocrine disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Comment:
| Wolfram syndrome is a monogenic form of diabetes caused by mutations in WFS1 or CISD2 (PMID:21127150). "This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level." Wolfram syndrome comprises the following entries: Phenodis:9889 Wolfram syndrome 1 OMIM:222300; Phenodis:10933 Wolfram syndrome 2 OMIM:604928; |
Symptom Information:
Associated genes:
| WFS1; CISD2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|