Details of Disease

General Information of Disease (ID: DIS751RW)

Disease Name Hennekam lymphangiectasia-lymphedema syndrome 2
Synonyms HKLLS2; Hennekam lymphangiectasia-lymphedema syndrome 2; Hennekam syndrome caused by mutation in FAT4; Hennekam lymphangiectasia-lymphedema syndrome type 2; FAT4 Hennekam syndrome
Definition Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Disease Hierarchy
DISIQGJQ: Hennekam syndrome
DIS751RW: Hennekam lymphangiectasia-lymphedema syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014454
UMLS CUI
C4014939
OMIM ID
616006
MedGen ID
863376

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
FAT4 OT7QONNV Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.