Details of Disease

General Information of Disease (ID: DISYU5HK)

Disease Name ABetaL34V amyloidosis
Synonyms
HCHWA, Piedmont type; ABeta amyloidosis, Piedmont type; hereditary cerebral hemorrhage with amyloidosis, Piedmont type; hereditary cerebral haemorrhage with amyloidosis, Piedmont type; ABetaL34V-related amyloidosis
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
Disease Hierarchy
DISM53WI: Cerebral amyloid angiopathy, APP-related
DISYU5HK: ABetaL34V amyloidosis
Disease Identifiers
MONDO ID
MONDO_0017945
UMLS CUI
C5679882
MedGen ID
1842835
Orphanet ID
324703

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APP TTE4KHA Supportive Autosomal dominant [1]
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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 A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. Ann Neurol. 2005 Oct;58(4):639-44. doi: 10.1002/ana.20571.