Wolfram syndrome 2

Term ID

DOID:0110630

Synonyms

• WFS2

Definition

An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/25056293

References

• ICD10CM:E13.8
• MESH:C565733
• MIM:604928

Ontology

Human Disease   ( DOID:0110630 )