Details of Disease

General Information of Disease (ID: DISHAYGV)

Disease Name Lymphatic malformation 7
Synonyms hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD; hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD
Disease Hierarchy
DIS4D8VL: Lymphatic malformation
DIS5V645: EPHB4-associated vascular malformation spectrum
DISHAYGV: Lymphatic malformation 7
Disease Identifiers
MONDO ID
MONDO_0015009
UMLS CUI
C4310629
OMIM ID
617300
MedGen ID
934596

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

1 EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11.
2 Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218.