Details of Disease | DrugMAP

General Information of Disease (ID: DISWKD3H)

Disease Name	Capillary malformation-arteriovenous malformation 2
Synonyms	CMAVM2; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
Disease Hierarchy	DISMN03Q: Capillary malformation-arteriovenous malformation syndrome DIS5V645: EPHB4-associated vascular malformation spectrum DISWKD3H: Capillary malformation-arteriovenous malformation 2
Disease Identifiers	MONDO ID MONDO_0020785 UMLS CUI C4748670 OMIM ID 618196 MedGen ID 1648502

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
EPHB4	TTI4ZX2	Strong	Genetic Variation	[1]
EPHB4	TTI4ZX2	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPHB4	OTKLPVXJ	Definitive	Autosomal dominant	[2]
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References

1	Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?.Genet Med. 2019 Sep;21(9):2007-2014. doi: 10.1038/s41436-019-0443-z. Epub 2019 Feb 14.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.