TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Hay-Wells syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE We confirmed that three Chinese pedigrees affected with EEC or AEC harboring a distinct TP63 mutation, and described novel clinical phenotypes of EEC and AEC, including the presence of cubitus valgus deformity and taurodontism, which were discordant to their classical disease features. 31050217 2019
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease BEFREE The truncated p63 failed to associate with the C-terminal domain of RNA polymerase II through SRA4 protein and, therefore affected keratinocyte proliferation, differentiation and survival and may strongly contribute to AEC phenotype. 16177572 2005
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Mutations in TP63, mainly missense in exons 13 and 14 encoding the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains, account for 99% of mutations in individuals with AEC syndrome. 22740388 2012
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease BEFREE Our study reveals that p63 is a crucial regulator of a subset of desmosomal genes and that this function is impaired in AEC syndrome. 23108156 2013
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 11462173 2001
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease BEFREE Missense mutations in the 3' end of the p63 gene are associated with either RHS (Rapp-Hodgkin syndrome) or AEC (Ankyloblepharon Ectodermal defects Cleft lip/palate) syndrome. 18364388 2008
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE The expanding p63 mutation database demonstrates that there is considerable overlap between the molecular pathology of RHS and Hay-Wells syndrome, with identical mutations in some cases, and that these two disorders may in fact be synonymous. 16532463 2006
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE The basis for impaired differentiation in TP63 mutant ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is unknown. 22922031 2012
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 AlteredExpression disease BEFREE Since DeltaNp63alpha is the predominantly expressed TP63 isoform in postnatal skin, we hypothesized that mutant DeltaNp63alpha proteins are primarily responsible for skin fragility in AEC patients. 19681108 2009
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 AlteredExpression disease BEFREE Collectively, advancement in understanding the molecular mechanisms by which epidermal cell junctions precisely exert their functions and how p63 orchestrates their coordinated expression, will ultimately lead to insight into developing future strategies for the treatment of AEC syndrome and more in generally for diseases that share an overlapping phenotype. 25645146 2015
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease UNIPROT We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. 11159940 2001
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 AlteredExpression disease BEFREE These findings demonstrate that distinct AEC TP63 mutants can differentially compromise expression of downstream targets, providing a rationale for the variable spectra of symptoms seen in AEC patients. 19353588 2009
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease CTD_human The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63. 19239083 2008
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Here, we characterize the transcriptional activity and protein stability of ΔNp63 mutants (that is, mutants of a p63 isoform that lacks the N-terminal transactivation domain) that are found in ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC), ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC) and nonsyndromic split-hand/split-foot malformation (SHFM). 21652629 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Several missense and heterozygous frame shift mutations, encoded within exon 13 and 14 of the p63 gene, have been identified in the p63α SAM domain in patients suffering from ankyloblepharon-ectodermal dysplasia-clefting syndrome. 21615690 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions. 20738799 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease BEFREE A clinical diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate or Hay-Wells syndrome resulted in TP63 sequence analysis. 23610050 2013
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the AEC and Rapp Hodgkin syndromes cluster in the 3' end of the p63 gene. 19676060 2009
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE We identified a previously unreported variant in TP63 gene which seems to be involved in the somatic malformations found in the AEC syndrome. 27485918 2017
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Natural p63 mutants, associated to the AEC syndrome, show a partial or complete lack of transactivation potential of the p57Kip2 promoter, while three other natural p63 mutants, associated to the EEC, LMS and SHFM-4 syndromes, were less affected. 16258268 2005
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 Biomarker disease BEFREE We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families. 11159940 2001
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 16679535 2006