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Variant ABeta2M amyloidosis

ORPHA314652
Synonym(s) Autosomal dominant beta2-microglobulinic amyloidosis
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
ICD-10
  • E85.1
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

Autosomal dominant beta 2-microglobulinic amyloidosis is a form of amyloidosis (see this term), characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin (D76N variant β2M) leading to progressive gastrointestinal dysfunction, Sjögren syndrome (see this term) and autonomic neuropathy.

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