/PrP systemic amyloidosis

PrP systemic amyloidosis

Rare Disease

MONDO:0018339

Also Known As

chronic diarrhea with HSANchronic diarrhea with hereditary sensory and autonomic neuropathychronic diarrhoea with HSANchronic diarrhoea with hereditary sensory and autonomic neuropathyprion protein systemic amyloidosis

Definition

Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.