Popliteal Pterygium Syndrome

mutation in IRF6

Also Known As:

Cleft Lip-Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies; Facio-Genito-Popliteal Syndrome; Faciogenitopopliteal Syndrome

Networked: 17 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Van der Woude syndrome
2.	Lethal Type Popliteal Pterygium Syndrome
3.	Syndactyly (Polysyndactyly)
4.	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
5.	Contracture

Experts

1.	Dixon, Michael J: 4 articles (07/2009 - 11/2006)
2.	Schutte, Brian C: 3 articles (05/2013 - 02/2009)
3.	Bale, Sherri: 2 articles (05/2013 - 04/2009)
4.	Compton, John: 2 articles (05/2013 - 04/2009)
5.	Murray, Jeffrey C: 2 articles (05/2013 - 04/2009)
6.	Kondo, Shinji: 2 articles (09/2010 - 04/2009)
7.	Dixon, Jill: 2 articles (07/2009 - 11/2006)
8.	Richardson, Rebecca J: 2 articles (07/2009 - 11/2006)
9.	Rorick, Nicholas K: 2 articles (04/2009 - 02/2009)
10.	Malhotra, Saimon: 2 articles (02/2009 - 11/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Popliteal Pterygium Syndrome:

1.	Interferon Regulatory FactorsIBA 04/01/2009 - "The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. On the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect on interferon regulatory factor 6 function." 04/01/2009 - "We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. " 04/01/2009 - "We performed direct sequence analysis of interferon regulatory factor 6 exons on samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. " 04/01/2009 - "Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. " 04/01/2009 - "Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. "
2.	DNA (Deoxyribonucleic Acid)IBA 04/01/2009 - "Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. " 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."
3.	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. "
4.	Proteins (Proteins, Gene)FDA Link 04/01/2009 - "In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. "
5.	Protein Kinases (Protein Kinase)IBA 11/07/2014 - "Receptor-interacting protein kinase 4 (RIPK4) and interferon regulatory factor 6 (IRF6) are critical regulators of keratinocyte differentiation, and their mutation causes the related developmental epidermal disorders Bartsocas-Papas syndrome and popliteal pterygium syndrome, respectively. "
6.	Anesthetics (Anesthetic Agents)IBA 10/01/2007 - "Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations."

Therapies and Procedures

1.	Airway Management 02/01/2008 - "The Shikani Optical Stylet: a useful adjunct to airway management in a neonate with popliteal pterygium syndrome." 02/01/2008 - "We describe the use of the Shikani Optical Stylet, a novel fiberoptic endoscope, in the airway management of a neonate with popliteal pterygium syndrome and syngnathia."
2.	Nerve Expansion 05/01/2014 - "Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome."
3.	Endoscopes 02/01/2008 - "We describe the use of the Shikani Optical Stylet, a novel fiberoptic endoscope, in the airway management of a neonate with popliteal pterygium syndrome and syngnathia."
4.	Splints (Splint) 03/01/1994 - "For children with popliteal pterygium syndrome, an evaluation of the severity of contracture in degrees would be useful and a conservative treatment with splints should be begun within the first months after birth. "
5.	Conservative Treatment 03/01/1994 - "For children with popliteal pterygium syndrome, an evaluation of the severity of contracture in degrees would be useful and a conservative treatment with splints should be begun within the first months after birth. "