TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: ADULT SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63. 31420900 2019
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 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: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome. 22607287 2012
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. 21990121 2011
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. 21078104 2011
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE EEC syndrome-specific mutations of TAp63γ fail to transactivate retSDR1 and an ADULT syndrome-derived mutant stimulates retSDR1 transcription significantly less than the wild-type variant of p63. 20543567 2010
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE Mutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing. 19781362 2009
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE Mutant p63 proteins derived from EEC and ADULT syndrome patients cannot activate S100A2 transcription whereas SHFM-related mutants still can stimulate the S100A2 promoter. 18388131 2008
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET This report expands the knowledge of genotype-phenotype data on the p63 gene and suggests there may be a considerable overlap between the EEC syndrome and the ADULT syndrome. 17041931 2006
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). 16724007 2006
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE This report expands the knowledge of genotype-phenotype data on the p63 gene and suggests there may be a considerable overlap between the EEC syndrome and the ADULT syndrome. 17041931 2006
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE This is the third mutation to be reported in TP63 in ADULT syndrome. 16114047 2005
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease UNIPROT These results confirm that ADULT syndrome is a clinically as well as molecularly distinct member of the expanding p63 mutation family of human malformation syndromes. 11929852 2002
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE These results confirm that ADULT syndrome is a clinically as well as molecularly distinct member of the expanding p63 mutation family of human malformation syndromes. 11929852 2002
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 GeneticVariation disease BEFREE Here, we report on a missense TP63 gene mutation in an isolated ADULT syndrome case. 11528512 2001
CUI: C1863204
Disease: ADULT SYNDROME
ADULT 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: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 CausalMutation disease CLINVAR
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 Biomarker disease CTD_human
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND