Details of Disease | DrugMAP

General Information of Disease (ID: DIS5V645)

Disease Name	EPHB4-associated vascular malformation spectrum
Definition	Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.\|Variants in the EPHB4 gene have been observed in individuals with capillary malformation-arteriovenous malformation (CM-AVM) (characterized by the presence of multiple small capillary malformations, mostly on the face and limbs, +/- other arteriovenous malformations or arteriovenous fistulas) as well as with lymphatic malformations, ranging in severity from severe non-immune hydrops fetalis to varicose veins and/or subclinical lymphatic anomalies, even within the same family (PMID:27400125). Evidence suggests that both of these presentations are caused by loss of function, though the exact mechanism by which this occurs is variable; some variants demonstrate reduced expression and defects in subcellular localization with aggregates, others have normal expression levels but reduced tyrosine kinase activity) (PMID:33864021). It has been hypothesized that the different presentations may be due to differences in forward vs. reverse signaling defects, but this remains to be elucidated. [PMID:27400125, PMID:2868770, PMID:30760892, PMID:33864021]
Disease Hierarchy	DISYKSRF: Genetic disease DIS2DB7A: Vascular malformation DIS5V645: EPHB4-associated vascular malformation spectrum

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
EPHB4	TTI4ZX2	Definitive	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
EPHB4	OTKLPVXJ	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.