Details of Disease

General Information of Disease (ID: DIS8QSDB)

Disease Name ABeta amyloidosis, Iowa type
Synonyms
hereditary cerebral haemorrhage with amyloidosis, Iowa type; hereditary cerebral hemorrhage with amyloidosis, Iowa type; HCHWA, Iowa type; cerebral amyloid angiopathy, APP-related, Iowa variant; ABetaD23N amyloidosis
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.
Disease Hierarchy
DISM53WI: Cerebral amyloid angiopathy, APP-related
DIS8QSDB: ABeta amyloidosis, Iowa type
Disease Identifiers
MONDO ID
MONDO_0017946
UMLS CUI
C3888309
MedGen ID
854855
Orphanet ID
324708

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 Abeta species, including IsoAsp23 Abeta, in Iowa-type familial cerebral amyloid angiopathy. Acta Neuropathol. 2003 Mar;105(3):252-8. doi: 10.1007/s00401-002-0639-0. Epub 2002 Nov 22.
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.