Details of Disease

General Information of Disease (ID: DISUMT1J)

Disease Name ABeta amyloidosis, Arctic type
Synonyms
ABetaE22G amyloidosis; hereditary cerebral hemorrhage with amyloidosis, Arctic type; hereditary cerebral haemorrhage with amyloidosis, Arctic type; cerebral amyloid angiopathy, APP-related, Arctic variant; HCHWA, Arctic type
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
Disease Hierarchy
DISM53WI: Cerebral amyloid angiopathy, APP-related
DISUMT1J: ABeta amyloidosis, Arctic type
Disease Identifiers
MONDO ID
MONDO_0017949
UMLS CUI
C2751494
MedGen ID
414032
Orphanet ID
324723

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 Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol. 2008 Apr;65(4):499-505. doi: 10.1001/archneur.65.4.499.
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.