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Variant ABeta2M amyloidosis

MedGen UID:
928338
Concept ID:
C4302669
Disease or Syndrome
Synonyms: Autosomal dominant beta2-microglobulinic amyloidosis; autosomal dominant beta2-microglobulinic amyloidosis; variant ABeta2M amyloidosis
SNOMED CT: Autosomal dominant beta2-microglobulinic amyloidosis (722292000); Variant ABeta2M amyloidosis (722292000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0017810
Orphanet: ORPHA314652

Definition

A form of amyloidosis with characteristics of the accumulation and extensive visceral deposition of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVariant ABeta2M amyloidosis

Recent clinical studies

Etiology

Barreca A, Bottasso E, Veneziano F, Giarin M, Nocifora A, Martinetti N, Attanasio A, Biancone L, Benevolo G, Roccatello D, Cassoni P, Papotti MG; Amyloidosis Group of the “Rete Interregionale Piemonte e Valle d’Aosta per le Malattie Rare”
PLoS One 2021;16(8):e0256306. Epub 2021 Aug 24 doi: 10.1371/journal.pone.0256306. PMID: 34428239Free PMC Article
Picken MM
Acta Haematol 2020;143(4):322-334. Epub 2020 May 11 doi: 10.1159/000506696. PMID: 32392555

Diagnosis

Barreca A, Bottasso E, Veneziano F, Giarin M, Nocifora A, Martinetti N, Attanasio A, Biancone L, Benevolo G, Roccatello D, Cassoni P, Papotti MG; Amyloidosis Group of the “Rete Interregionale Piemonte e Valle d’Aosta per le Malattie Rare”
PLoS One 2021;16(8):e0256306. Epub 2021 Aug 24 doi: 10.1371/journal.pone.0256306. PMID: 34428239Free PMC Article
Picken MM
Acta Haematol 2020;143(4):322-334. Epub 2020 May 11 doi: 10.1159/000506696. PMID: 32392555

Supplemental Content

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