TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Ankyloblepharon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. 27485918 2017
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE The third hallmark of the EEC syndrome is orofacial clefting, in particular lip and palate. p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome). 23407076 2013
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. 22607287 2012
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE The basis for impaired differentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown. 22922031 2012
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE AEC (ankyloblepharon-ectodermal defects-clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63. 22329826 2012
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE In humans p63 mutations are associated with several distinct developmental syndromes. p63 sterile-α-motif domain, AEC (ankyloblepharon-ectodermal dysplasia-clefting)-associated mutations are associated with a high prevalence of orofacial clefting disorders, which are less common in EEC (ectrodactyly-ectodermal dysplasia-clefting) patients with DNA binding domain p63 mutations. 21965674 2011
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. 21567929 2011
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. 19676058 2009
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Dominant mutations in TP63 cause ankyloblepharon ectodermal dysplasia and clefting (AEC), an ectodermal dysplasia characterized by skin fragility. 19681108 2009
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias. 17164413 2007
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype. 16365259 2005
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE However, p63 mutations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells syndrome) were found in the p63 carboxyl-terminal region with a sterile alpha-motif. 12692135 2003
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene. 12766194 2003
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 GeneticVariation disease BEFREE A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. 12932250 2003
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		0.200 Biomarker disease HPO