Details of Disease | DrugMAP

General Information of Disease (ID: DIS73V0V)

Disease Name	Lymphatic malformation 4
Synonyms	LMPH1D; lymphedema, hereditary, type 1D; hereditary lymphedema caused by mutation in VEGFC; VEGFC hereditary lymphedema; lymphedema, hereditary, 1D
Definition	Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
Disease Hierarchy	DIS4D8VL: Lymphatic malformation DIS73V0V: Lymphatic malformation 4
Disease Identifiers	MONDO ID MONDO_0014393 UMLS CUI C4747769 OMIM ID 615907 MedGen ID 1651756

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VEGFC	OTJ1ZMHK	Strong	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VEGFC	TT0QUFV	Strong	Autosomal dominant	[1]
VEGFC	TT0QUFV	Strong	Biomarker	[2]
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References

1	Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins. Nat Immunol. 2004 Jan;5(1):74-80. doi: 10.1038/ni1013. Epub 2003 Nov 23.
2	A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.Int J Mol Sci. 2018 Aug 1;19(8):2259. doi: 10.3390/ijms19082259.