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ABetaL34V amyloidosis

MedGen UID:
1842835
Concept ID:
C5679882
Disease or Syndrome
Synonyms: ABeta amyloidosis, Piedmont type; ABetaL34V-related amyloidosis; HCHWA, Piedmont type; hereditary cerebral haemorrhage with amyloidosis, Piedmont type; Hereditary cerebral hemorrhage with amyloidosis, Piedmont type; hereditary cerebral hemorrhage with amyloidosis, Piedmont type
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:0017945
Orphanet: ORPHA324703

Definition

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVABetaL34V amyloidosis

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