Details of Disease

General Information of Disease (ID: DISUZKA2)

Disease Name ABeta amyloidosis, Italian type
Synonyms
HCHWA, Italian type; hereditary cerebral haemorrhage with amyloidosis, Italian type; cerebral amyloid angiopathy, APP-related, Italian variant; ABetaE22K amyloidosis; hereditary cerebral hemorrhage with amyloidosis, Italian type
Definition Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.
Disease Hierarchy
DISM53WI: Cerebral amyloid angiopathy, APP-related
DISUZKA2: ABeta amyloidosis, Italian type
Disease Identifiers
MONDO ID
MONDO_0017947
UMLS CUI
C3888308
MedGen ID
854854
Orphanet ID
324713

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 Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. Arch Neurol. 2010 Aug;67(8):987-95. doi: 10.1001/archneurol.2010.178.
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.