Details of Disease

General Information of Disease (ID: DISI16D9)

• Disease Name: PrP systemic amyloidosis
• Synonyms: chronic diarrhoea with hereditary sensory and autonomic neuropathy; prion protein systemic amyloidosis; chronic diarrhoea with HSAN; chronic diarrhea with hereditary sensory and autonomic neuropathy; chronic diarrhea with HSAN
• 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.
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISOUMB0: Prion disease
  DISI16D9: PrP systemic amyloidosis
• Disease Identifiers:
  MONDO ID: MONDO_0018339
  UMLS CUI: C4518776
  MedGen ID: 1377371
  Orphanet ID: 397606
  SNOMED CT ID: 733422008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRNP	OTE85L1Q	Supportive	Autosomal dominant	[1]

References

• [1] A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med. 2013 Nov 14;369(20):1904-14. doi: 10.1056/NEJMoa1214747.