Van der Woude syndrome

An autosomal dominant hereditary 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. Mutations in the IRF6 gene have been identified. OMIM: 119300

Also Known As:

Networked: 54 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cleft Lip (Harelip)
2.	Cleft Palate (Palate, Cleft)
3.	Popliteal Pterygium Syndrome
4.	Turner Syndrome (Turner's Syndrome)
5.	Syndactyly (Polysyndactyly)

Experts

1.	Murray, Jeffrey C: 8 articles (01/2020 - 01/2003)
2.	Schutte, Brian C: 7 articles (05/2014 - 01/2003)
3.	Dunnwald, Martine: 5 articles (01/2020 - 09/2010)
4.	Dixon, Michael J: 4 articles (07/2009 - 11/2006)
5.	Butali, Azeez: 3 articles (01/2020 - 01/2014)
6.	Canady, John W: 3 articles (01/2020 - 09/2010)
7.	Cornell, Robert A: 3 articles (01/2020 - 01/2014)
8.	Revencu, Nicole: 3 articles (01/2020 - 11/2005)
9.	Leslie, Elizabeth J: 3 articles (02/2016 - 05/2013)
10.	Kondo, Shinji: 3 articles (09/2010 - 01/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Van der Woude syndrome:

1.	Interferon Regulatory FactorsIBA 01/01/2021 - "Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits, is caused by mutations in interferon regulatory factor 6 gene. " 01/01/2020 - "Van der Woude syndrome (VWS) is the most common form of syndromic orofacial cleft caused predominantly by mutations in Interferon Regulatory Factor 6 (IRF6). " 12/01/2018 - "[Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation]." 01/01/2018 - "Members from two Van der Woude syndrome (VWS) families were screened to determine the prevalence of interferon regulatory factor 6 (IRF6) as a disease‑causing gene and to analyze the interrelationships between patient genotype and phenotype. " 01/01/2017 - "A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome."
2.	InterferonsIBA 10/01/2020 - "Previous studies have suggested that pathogenic variants in interferon regulatoryse factor 6 (IRF6) can account for almost 70% of familial Van der Woude Syndrome (VWS) cases. " 07/01/2021 - "Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. " 01/01/2020 - "Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. " 11/01/2005 - "The interferon regulatory factor-6 (IRF6) gene has been shown to harbor mutations in patients with van der Woude syndrome, a dominant form of clefts associated with small pits of the lower lip. " 01/01/2020 - "Loss-of-function mutations in interferon regulatory factor-6 (IRF6) are responsible for about 70% of cases of Van Der Woude Syndrome (VWS), an autosomal dominant developmental disorder characterized by pits and/or sinuses of the lower lip and cleft lip, cleft palate, or both. "
3.	DNA (Deoxyribonucleic Acid)IBA 01/01/2020 - "Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome." 12/01/2006 - "A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis." 05/01/2013 - "Although mutations causing Van der Woude syndrome or popliteal pterygium syndrome were nonrandomly distributed with significantly increased frequencies in the DNA-binding domain (P = 0.0001), variants found in controls were rare and evenly distributed in IRF6. " 02/01/2009 - "Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6." 05/15/2014 - "DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP). "
4.	Transcription Factors (Transcription Factor)IBA 05/01/2013 - "Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. " 07/15/2009 - "In humans, mutations in the transcription factor interferon regulatory factor 6 (IRF6) underlie Van der Woude syndrome and popliteal pterygium syndrome. "
5.	Proteins (Proteins, Gene)FDA Link 10/01/2017 - "Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP). " 10/01/1994 - "The CENPF gene, which encodes a structural protein of the kinetochore, maps to chromosome 1q32-->q41 within close proximity to the genetic locus that is linked to Van der Woude syndrome."
6.	Nonsense Codon (Nonsense Mutation)IBA 07/01/2007 - "A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome."
7.	Cadherins (E-Cadherin)IBA 06/05/2018 - "Genome-wide linkage analysis and whole genome sequencing in a Van der Woude syndrome (VWS) family revealed that the SNP, rs539075, within intron 2 of the cadherin 2 gene (CDH2) co-segregated with the disease phenotype. "
8.	Methylene Blue (Methylthioninium Chloride)FDA Link 01/01/2012 - "This paper aims to describe an alternative technique for excision of the congenital fistula of lower lip in patient with Van der Woude syndrome, using gutta percha points and methylene blue for better identify the the fullest extent of the fistula. " 01/01/2012 - "An alternative technique using a gutta percha points and blue methylene to excision of congenital fistula of lower lip in patient with Van der Woude syndrome."
9.	Gutta-Percha (Guttapercha)IBA 01/01/2012 - "This paper aims to describe an alternative technique for excision of the congenital fistula of lower lip in patient with Van der Woude syndrome, using gutta percha points and methylene blue for better identify the the fullest extent of the fistula. " 01/01/2012 - "An alternative technique using a gutta percha points and blue methylene to excision of congenital fistula of lower lip in patient with Van der Woude syndrome."
10.	NectinsIBA 02/01/2004 - "These include the identification of mutations in the interferon regulatory factor-6 (IRF6) gene as the cause of van der Woude syndrome and the poliovirus receptor related-1 (PVRL1) gene as being responsible for an autosomal recessive ectodermal dysplasia syndrome associated with clefting. "