CLPED1
MCID: CLF037
MIFTS: 51
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Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)
Categories:
Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Cleft Lip/palate-Ectodermal Dysplasia Syndrome:
Characteristics:Orphanet epidemiological data:58
cleft lip/palate-ectodermal dysplasia syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
allelic disorder to the zlotogora-ogur syndrome HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases
Orphanet: 58
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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. |
Human phenotypes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:58 31 (show top 50) (show all 56)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:225060 |
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MalaCards organs/tissues related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:40
Skin,
Testes,
Bone
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Articles related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome:(show all 13)
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ClinVar genetic disease variations for Cleft Lip/palate-Ectodermal Dysplasia Syndrome:6 (show top 50) (show all 147)
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Search
GEO
for disease gene expression data for Cleft Lip/palate-Ectodermal Dysplasia Syndrome.
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Pathways related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:(show all 35)
Molecular functions related to Cleft Lip/palate-Ectodermal Dysplasia Syndrome according to GeneCards Suite gene sharing:
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