Details of Disease

General Information of Disease (ID: DISB203L)

Disease Name Hennekam lymphangiectasia-lymphedema syndrome 1
Synonyms
HKLLS1; lymphatic dysplasia, generalised; lymphatic dysplasia, generalized; Hennekam lymphangiectasia-lymphedema syndrome; Hennekam lymphangiectasia-lymphedema syndrome type 1; CCBE1 Hennekam syndrome; Hennekam syndrome caused by mutation in CCBE1; Hennekam lymphangiectasia-lymphedema syndrome 1
Definition Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.
Disease Hierarchy
DISIQGJQ: Hennekam syndrome
DISB203L: Hennekam lymphangiectasia-lymphedema syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009337
MESH ID
C537255
UMLS CUI
C4012050
OMIM ID
235510
MedGen ID
860487

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PIEZO1 OTBG1FU4 Strong Genetic Variation [1]
CCBE1 OTO4UIDB Definitive Autosomal recessive [2]
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References

1 Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.Nat Commun. 2019 Apr 26;10(1):1951. doi: 10.1038/s41467-019-09905-4.
2 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484.