Details of Disease | DrugMAP

General Information of Disease (ID: DIS6LNS5)

Disease Name	ABeta amyloidosis, dutch type
Synonyms	hereditary cerebral haemorrhage with amyloidosis, Dutch type; HCHWA-D; ABetaE22Q amyloidosis; HCHWA, Dutch type; hereditary cerebral hemorrhage with amyloidosis, Dutch type; cerebral amyloid angiopathy, APP-related, Dutch variant
Definition	Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.
Disease Hierarchy	DISM53WI: Cerebral amyloid angiopathy, APP-related DIS6LNS5: ABeta amyloidosis, dutch type
Disease Identifiers	MONDO ID MONDO_0015033 MESH ID C537944 UMLS CUI C2931672 MedGen ID 419468 Orphanet ID 100006 SNOMED CT ID 56453003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APP	TTE4KHA	Supportive	Autosomal dominant	[1]
APP	TTE4KHA	Strong	Genetic Variation	[2]
PAOX	TTNQ760	Strong	Biomarker	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SMOX	DEOH5V3	Strong	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APP	OTKFD7R4	Supportive	Autosomal dominant	[1]
SCRN1	OTELM5C2	Strong	Biomarker	[4]
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References

1	Amyloid in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Rev Neurosci. 2014;25(5):641-51. doi: 10.1515/revneuro-2014-0008.
2	Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient.Stem Cell Res. 2019 Jan;34:101359. doi: 10.1016/j.scr.2018.101359. Epub 2018 Dec 14.
3	Hereditary cerebral hemorrhage with amyloidosis--Dutch type. Tc-99m HM-PAO single photon emission computed tomography.Neuroradiology. 1990;32(2):142-5. doi: 10.1007/BF00588564.
4	Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer's disease and not in other tauopathies.Acta Neuropathol Commun. 2019 Dec 3;7(1):195. doi: 10.1186/s40478-019-0848-6.