Wolfram syndrome 2

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 autoso

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.

Signs and symptoms

• Diabetes mellitus
• Optic atrophy
• Sensorineural hearing impairment
• Peptic ulcer
• Abnormal bleeding
• Neurogenic bladder
• Decreased circulating immunoglobulin concentration
• Depression
• Impaired collagen-induced platelet aggregation
• Oligomenorrhea

Also known as: WFS2