Details of Disease

General Information of Disease (ID: DISFFVUQ)

Disease Name Lymphatic malformation 3
Synonyms LMPH1C; lymphedema, hereditary, IC; lymphedema, hereditary, type 1C; hereditary lymphedema caused by mutation in GJC2; GJC2 hereditary lymphedema; lymphedema, hereditary, 1C
Definition Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.
Disease Hierarchy
DIS4D8VL: Lymphatic malformation
DISFFVUQ: Lymphatic malformation 3
Disease Identifiers
MONDO ID
MONDO_0013278
UMLS CUI
C4747646
OMIM ID
613480
MedGen ID
1652857

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
GJC2 TTPOCAL moderate Biomarker [1]
GJC2 TTPOCAL Strong Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJC2 OTLF9WW4 Strong Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29.
2 GJC2 missense mutations cause human lymphedema. Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.