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

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/604928