Zlotogora-Ogur syndrome

Also Known As:

Autosomal recessive ectodermal dysplasia; Bustos Simosa Pinto Cisternas syndrome; CLPED1; Cleft lip-palate-ectodermal dysplasia syndrome; Ectodermal Dysplasia, Margarita Island Type; Ectodermal Dysplasia, Type 4; Ectodermal dysplasia Margarita island type; Ectodermal dysplasia type 4; Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly

Networked: 14 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cleft Lip (Harelip)
2.	Pterygium
3.	Cleft palate X-linked
4.	Zlotogora-Ogur syndrome
5.	Anhidrotic Ectodermal Dysplasia 1

Experts

1.	Lopez, Marc: 3 articles (08/2014 - 03/2010)
2.	Agolini, Emanuele: 2 articles (08/2014 - 08/2010)
3.	Brancati, Francesco: 2 articles (08/2014 - 08/2010)
4.	Dallapiccola, Bruno: 2 articles (08/2014 - 08/2010)
5.	Fortugno, Paola: 2 articles (08/2014 - 08/2010)
6.	Josselin, Emmanuelle: 2 articles (08/2014 - 08/2010)
7.	Zambruno, Giovanna: 2 articles (08/2014 - 08/2010)
8.	Askarian, Saeedeh: 1 article (04/2022)
9.	Avan, Amir: 1 article (04/2022)
10.	Ferns, Gordon A: 1 article (04/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Zlotogora-Ogur syndrome:

1.	NectinsIBA 07/01/2015 - "We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. " 07/01/2015 - "Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient." 05/01/2004 - "Although CLPED1 cells can only express a defective form of nectin-1, they allowed entry of wild type and mutant HSV strains by usage of either HVEM or nectin-2. " 08/01/2014 - "In particular, nectin-1 mutations cause cleft lip/palate ED (CLPED1; OMIM#225060), whereas defective nectin-4 is associated with ED-syndactyly syndrome (EDSS1; OMIM#613573). " 08/13/2010 - "Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule."
2.	Proteins (Proteins, Gene)FDA Link 07/01/2015 - "All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. "
3.	poliovirus receptorIBA 07/01/2015 - "Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. " 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. " 07/01/2012 - "The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell-cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). " 12/01/2006 - "Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). " 10/01/2004 - "Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. "
4.	InterferonsIBA 06/01/2023 - "There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic defects in T-box transcription factor-22 (TBX22), interferon regulatory factor-6 (IRF6), and poliovirus receptor-like-1 (PVRL1), responsible for X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively. " 01/01/2012 - "Three of them-T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. " 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. " 10/01/2004 - "Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. "
5.	Nonsense Codon (Nonsense Mutation)IBA 10/01/2009 - "Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with sporadic nsCL/P in Northern Venezuela. " 10/01/2001 - "Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomal recessive CL/P syndrome on Margarita Island, CLPED1 (ref. "
6.	Cell Adhesion MoleculesIBA 07/01/2012 - "The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell-cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). "
7.	Virus ReceptorsIBA 03/01/2010 - "They serve as virus receptors (poliovirus and herpes simplex virus), they are involved in orofacial malformation (CLPED1) and recently they have been described as markers, actors and potential therapeutics targets in cancer. "
8.	Immunoglobulins (Immunoglobulin)IBA 12/01/2006 - "Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). "
9.	afadinIBA 01/01/2020 - "Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1."

Therapies and Procedures

1.	Therapeutics 03/01/2010 - "They serve as virus receptors (poliovirus and herpes simplex virus), they are involved in orofacial malformation (CLPED1) and recently they have been described as markers, actors and potential therapeutics targets in cancer. "