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Autosomal dominant beta2-microglobulinic amyloidosis

Orpha number ORPHA314652
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • E85.1
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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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