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PrP systemic amyloidosis
Disease definition
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.
ORPHA:397606
Classification level: Disorder- Synonym(s):
- Chronic diarrhea with HSAN
- Chronic diarrhea with hereditary sensory and autonomic neuropathy
- Prion protein systemic amyloidosis
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: G60.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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