Details of Disease

General Information of Disease (ID: DISSMZWA)

Disease Name Hennekam lymphangiectasia-lymphedema syndrome 3
Synonyms HKLLS3; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
Disease Hierarchy
DISIQGJQ: Hennekam syndrome
DISSMZWA: Hennekam lymphangiectasia-lymphedema syndrome 3
Disease Identifiers
MONDO ID
MONDO_0032564
UMLS CUI
C4748408
OMIM ID
618154
MedGen ID
1648368

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
ADAMTS3 OT2U6VF5 Strong Autosomal recessive [1]
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References

1 ADAMTS3 activity is mandatory for embryonic lymphangiogenesis and regulates placental angiogenesis. Angiogenesis. 2016 Jan;19(1):53-65. doi: 10.1007/s10456-015-9488-z. Epub 2015 Oct 7.