PrP systemic amyloidosis
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.
MONDO:0005020
intestinal disorder
excluded_subClassOf
MONDO:0005429
prion disease
is_a
MONDO:0100545
hereditary neurological disease
is_a
chronic diarrhea with HSAN
exact
chronic diarrhea with hereditary sensory and autonomic neuropathy
exact
chronic diarrhoea with HSAN
exact
chronic diarrhoea with hereditary sensory and autonomic neuropathy
exact
prion protein systemic amyloidosis
exact