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Variant ABeta2M amyloidosis

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.

ORPHA:314652

  • 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: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public

Additional information

Further information on this disease

Specialised Social Services

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