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Wolfram syndrome 2
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defect in CISD2
Clinical manifestations:
- profound upper gastrointestinal ulceration
- significant bleeding tendency
- various neurological symptoms
Laboratory:
- defective platelet aggregation with collagen
Related
CDGSH iron sulfur domain-containing protein 2 (endoplasmic reticulum intermembrane small protein, mitoNEET-related 1 protein, Miner1, CISD2, ERIS, ZCD2)
Wolfram syndrome; diabetes insipidus & mellitus with optic atrophy & deafness syndrome (DIDMOAD)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 604928
References
OMIM :accession 604928