ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Summary
Synonym
  • AEC syndrome
  • Hay-Wells syndrome
  • ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
Definition
An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.
Super Class
autosomal dominant disease ectodermal dysplasia
External Links
Disease Ontology
DOID:0090119
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
308 ANXA5 annexin A5
952 CD38 CD38 molecule
1717 DHCR7 7-dehydrocholesterol reductase
2539 G6PD glucose-6-phosphate dehydrogenase
5230 PGK1 phosphoglycerate kinase 1
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6440 SFTPC surfactant protein C
64083 GOLPH3 golgi phosphoprotein 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024