Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)

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Disease Ontology 12 DOID:0060773 DOID:0080400 DOID:0111658 OMIM 56 225060 OMIM Phenotypic Series 56 PS119530 MeSH 43 D002971 D004476 MESH via Orphanet 44 C536726

UMLS via Orphanet 72 C2931488 Orphanet 58 ORPHA3253 MedGen 41 C1833538 C1857043 C2931488 CN074253 more SNOMED-CT via HPO 68 1085331000119107 128613002 16958000 17170005 204912007 228156007 246545002 246800008 247578003 249321001 249710008 249769001 25159003 253207002 254154003 258211005 26624006 268251006 274521009 275259005 275478007 275480001 278040002 313307000 32113001 32337007 32958008 34048007 422775003 423230008 45004005 48130008 53602002 56317004 56558005 61960001 63567004 64969001 69056000 706885006 80281008 80967001 84757009 8654005 87979003 91138005 91175000 more UMLS 71 C1833538 C2931488

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3253 Definition Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability . Epidemiology The prevalence is unknown but to date, less than 50 cases have been described in the literature. The disorder is frequent on Margarita Island due to a founder effect . Clinical description Zlotogora-Ogur syndrome is a congenital disorder characterized by sparse and twisted hair (pili torti ) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults), facial dysmophism (protruding and malformed ears, micrognathia , bilateral cleft lip and palate), cutaneous syndactyly (fingers and toes) and transverse crease on the palms. Onychodystrophy may be present. Additional features including intellectual disability, deafness, hypoplastic lacrimal puncta, nipple anomalies, genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal), and lumbar lordosis may be observed. Zlotogora-Ogur syndrome and Margarita Island ectodermal dysplasia are the same entity. Etiology Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells . Although the mechanism underlying the physiopathology of Zlotogora-Ogur syndrome is still unknown, it has been proposed that nectin-1 is a cell-cell adhesion molecule that is preferentially expressed in keratinocytes and that mutations in PVRL1 may abrogate NAP (nectin, afadin, ponsin)-dependent cell-cell adhesion. Genetic counseling Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Cleft Lip/palate-Ectodermal Dysplasia Syndrome, also known as orofacial cleft 7, is related to cleft lip/palate and ectodermal dysplasia. An important gene associated with Cleft Lip/palate-Ectodermal Dysplasia Syndrome is NECTIN1 (Nectin Cell Adhesion Molecule 1), and among its related pathways/superpathways are PAK Pathway and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include skin, testes and bone, and related phenotypes are macrotia and finger syndactyly

Disease Ontology : ¹² An orofacial cleft that has material basis in by homozygous mutation in the PVRL1 gene on chromosome 11q23.

UniProtKB/Swiss-Prot : ⁷³ Ectodermal dysplasia, Margarita Island type: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.
Non-syndromic orofacial cleft 7: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

More information from OMIM: 225060 PS119530

Clinical features from OMIM:

225060

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate-Ectodermal Dysplasia Syndrome

Search GEO for disease gene expression data for Cleft Lip/palate-Ectodermal Dysplasia Syndrome.