|
Ectrodactyly
|
0.500 |
Biomarker
|
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 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome.
|
30566872 |
2018 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes.
|
29130604 |
2018 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
|
23613309 |
2013 |
|
Ectrodactyly
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Rapp-Hodgkin Syndrome (RHS) is a genetic disorder resulting from mutations in the TP63 gene encoding p63 transcription factor. p63 is directly associated with a cis-regulatory element on chromosome 7q21 that controls the expression of DLX5 and DLX6 genes which are involved in craniofacial abnormalities and ectrodactyly or split hand/foot malformation (SHFM).
|
22342398 |
2012 |
|
Ectrodactyly
|
0.500 |
Biomarker
|
disease |
BEFREE |
ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.
|
22607287 |
2012 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively.
|
22069181 |
2011 |
|
Ectrodactyly
|
0.500 |
Biomarker
|
disease |
BEFREE |
To test whether TP63 is the disease-causative gene for these phenotypes in Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases and a Limb-Mammary-Syndrome (LMS) patient to carry out TP63 gene sequencing.
|
20410354 |
2010 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
|
19663851 |
2009 |
|
Ectrodactyly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome.
|
19049519 |
2008 |
|
Ectrodactyly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting).
|
17041931 |
2006 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a Mexican boy with isolated ectrodactyly (split hand malformation) in whom a new mutation was identified in exon 3 of the TP63 gene.
|
15736220 |
2005 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four patients with syndromic ectrodactyly had p63 heterozygous point mutations that affect the DNA binding domain of the protein.
|
14656652 |
2004 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Split hand/split foot malformation (SHFM; ectrodactyly) is genetically heterogeneous, with mutations identified at five loci (SHFM1 at 7q21.3, SHFM2 at Xq26, SHFM3 at 10q24, SHFM4 at 3q27 and SHFM5 at 2q31).
|
15232212 |
2004 |
|
Ectrodactyly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24.
|
14699611 |
2004 |
|
Ectrodactyly
|
0.500 |
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 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Many of the inherited ectrodactyly syndromes are now known to be due to mutations in the p63 gene.
|
12164578 |
2002 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-hand/split-foot malformation (SHFM).
|
11929852 |
2002 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene.
|
11595015 |
2001 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities.
|
11462173 |
2001 |
|
Ectrodactyly
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
|
10839977 |
2000 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the human p63 gene is mutated in children who have the disease Ectrodactyly, Ectodermal dysplasia and facial Clefts (EEC) syndrome, and the disease phenotype is similar to the one of p63-deficient mice.
|
10769197 |
2000 |
|
Ectrodactyly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900).
|
11012604 |
2000 |
|
Ectrodactyly
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|