PrP systemic amyloidosis
Findings
No curated finding names PrP systemic amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018339), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:9449HGNC:9449
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: PrP systemic amyloidosis
- Also called
- chronic diarrhea with hereditary sensory and autonomic neuropathychronic diarrhea with HSANchronic diarrhoea with hereditary sensory and autonomic neuropathychronic diarrhoea with HSANprion protein systemic amyloidosis