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 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease GENOMICS_ENGLAND
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 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 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 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 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: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation. 12766194 2003
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 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: 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 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 GeneticVariation disease BEFREE We report 2 novel TP63 mutations resulting in AEC syndrome. 16365259 2005
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 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
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome. 16190990 2006
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Hay-Wells syndrome in a child with mutation in the TP73L gene. 17910675 2007
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 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 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 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 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 Biomarker disease CTD_human Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. 19676059 2009
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE We present an infant with AEC syndrome due to a novel TP63 mutation (F552S), who demonstrated neonatal erythroderma followed by extensive depigmentation. 19840326 2010
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		0.800 GeneticVariation disease BEFREE Including this study, 42 different mutations in TP63 in RHS and AEC have now been reported, three of which are exactly the same in both syndromes. 20491771 2010