PrP systemic amyloidosis

Orpha code: 397606OMIM code:

Definition

A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (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.

Disease data
Classification

Disease

Synonyms
Chronic diarrhea with HSAN
Przewlekła biegunka z HSAN
Chronic diarrhea with hereditary sensory and autonomic neuropathy
Prion protein systemic amyloidosis
ORPHA code
397606
OMIM code
-
ICD10 code
G60.8
ICD11 code
-

No additional description.

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