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PrP systemic amyloidosis

^ http://purl.obolibrary.org/obo/MONDO_0018339

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. [ Orphanet:397606 ]

Term info

database cross reference
  • UMLS:C4518776 (MONDO:equivalentTo)
  • SCTID:733422008 (MONDO:equivalentTo)
  • Orphanet:397606 (MONDO:equivalentTo)
Subsets

ordo_disease

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4518776, http://identifiers.org/snomedct/733422008, http://purl.obolibrary.org/obo/Orphanet_397606

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005020

has exact synonym

prion protein systemic amyloidosis, chronic diarrhea with HSAN, chronic diarrhea with hereditary sensory and autonomic neuropathy

id

MONDO:0018339