Details of Disease

General Information of Disease (ID: DISHQ9MD)

Disease Name ABetaA21G amyloidosis
Synonyms
ABetaA21G-related amyloidosis; cerebral amyloid angiopathy, APP-related, Flemish variant; ABeta amyloidosis, Flemish type; hereditary cerebral hemorrhage with amyloidosis, Flemish type; hereditary cerebral haemorrhage with amyloidosis, Flemish type; HCHWA, Flemish type
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.
Disease Hierarchy
DISM53WI: Cerebral amyloid angiopathy, APP-related
DISHQ9MD: ABetaA21G amyloidosis
Disease Identifiers
MONDO ID
MONDO_0017948
UMLS CUI
C3888307
MedGen ID
854853
Orphanet ID
324718

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APP TTE4KHA Supportive Autosomal dominant [1]
APP TTE4KHA moderate Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APP OTKFD7R4 Supportive Autosomal dominant [1]
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References

1 Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet. 1992 Jun;1(3):218-21. doi: 10.1038/ng0692-218.
2 Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.J Biol Chem. 2000 Sep 1;275(35):27110-6. doi: 10.1074/jbc.M003154200.