Details of Disease

General Information of Disease (ID: DIS8EHBM)

Disease Name Van der Woude syndrome 1
Synonyms
cleft lip and/or palate with mucous cysts of Lower lip; lip-pit syndrome; VWS1; Vdws; VAN DER Woude syndrome 1; van der Woude syndrome 1; van der Woude syndrome caused by mutation in IRF6; IRF6 van der Woude syndrome; Van Der Woude syndrome type 1
Definition Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.
Disease Hierarchy
DISYKSRF: Genetic disease
DISADZS1: Van der Woude syndrome
DIS8EHBM: Van der Woude syndrome 1
Disease Identifiers
MONDO ID
MONDO_0007333
UMLS CUI
C4551864
OMIM ID
119300
MedGen ID
1640616

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
GRHL3 OT1V4ZEH Definitive Autosomal dominant [1]
IRF6 OTKJ44EV Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19.
2 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3.