PrP systemic amyloidosis
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.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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PrP systemic amyloidosis
PrP systemic amyloidosis is an extremely rare and unusual form of inherited prion disease. Unlike most prion diseases, PrP systemic amyloidosis is not isolated to the central nervous system; the prion amyloid has extensive peripheral involvement, finding its way to peripheral nerves and internal organs. The initial presentation of this disease involves chronic diarrhea and autonomic neuropathy before progressing into neurodegeneration.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.