Van der woude syndrome 1

Preferred Label : Van der woude syndrome 1;

Symbol : VWS1;

CISMeF acronym : LPS; PIT; VDWS; VWS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LPS; VDWS; Cleft lip and/or palate with mucous cysts of lower lip; Lip-pit syndrome; PIT;

Description : Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. - Genetic Heterogeneity of van der Woude Syndrome Most reported cases of VWS have been linked to chromosome 1q32-q41 (VWS1) and are due to mutation in the IRF6 gene. VWS2 (606713) has been mapped to chromosome 1p34 and a mutation identified in the WDR65 gene (614259).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon regulatory factor 6 gene (IRF6, 607199.0001);

Prefixed ID : #119300;

Details

Origin ID

119300;

UMLS CUI

C4551864;

Automatic exact mappings (from CISMeF team)
- Lipopolysaccharide [NCIt concept]
- Lipoprotein (a) (substance) [SNOMED CT concept]
- Lipoprotein a [LOINC component]
- Pathologic Intimal Thickening [NCIt concept]
- Pitting oedema [ICD-11 Subcategory]
- calcium/calmodulin dependent protein kinase IG [HGNC gene]
- interferon regulatory factor 6 [ORDO Gene]
- interferon regulatory factor 6 [HGNC gene]
- pit [UBERON concept]
Broader ORDO disease(s)
- Van der Woude syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Van der Woude Syndrome [NCIt concept]
- Van der Woude syndrome [DO Concept]
- Van der Woude syndrome [PASCAL descriptor]
- Van der Woude syndrome [MeSH concept]
- Van der Woude syndrome [ORDO Disease]
- van der woude syndrome [MeSH Supplementary Concept]
DO Cross reference
- Van der Woude syndrome [DO Concept]
False automatic mappings
- IRF6 wt Allele [NCIt concept]
- Lumbar Puncture [NCIt concept]
- Pitting (qualifier value) [SNOMED CT concept]
- pitting [SNOMED Notion]
Genes related to phenotype
- Interferon regulatory factor 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Hypodontia [HPO term]
- Lower lip pit [HPO term]
ORDO concept(s)
- Van der Woude syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van der Woude Syndrome [NCIt concept]
- Van der Woude syndrome [ORDO Disease]
- Van der Woude syndrome [MeSH concept]
- Van der Woude syndrome [DO Concept]
- Van der Woude syndrome [PASCAL descriptor]
- Van der Woude syndrome (disorder) [SNOMED CT concept]
- van der woude syndrome [MeSH Supplementary Concept]
- van der woude syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Van Der Woude syndrome [ICD-11 More detail]

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