Van Der Woude Syndrome (VWS)

Alias:
Lip-Pit Syndrome
Vws
Cleft Lip/palate with Mucous Cysts of Lower Lip
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip
Vdws
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Van Der Woude Syndrome, also known as lip-pit syndrome, is related to van der woude syndrome 2 and van der woude syndrome 1. An important gene associated with Van Der Woude Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Wnt / Hedgehog / Notch. Affiliated tissues include tongue and heart, and related phenotypes are lip pit and cleft palate
Related ID:
MESH:C536528

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/1000000
32
300
33

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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