ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
In total, four genes, namely ectodysplasin A (EDA), ectodysplasin A receptor (EDAR), EDAR-associated death domain protein (EDARADD) and Wnt family member 10A (WNT10A), are known to be involved in the etiology of HED.
|
31310406 |
2019 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder that affects tissues derived from the ectoderm including hair, teeth and sweat glands.EDA is the major causative gene of HED.
|
31241787 |
2019 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with mutations in the ectodysplasin receptor signalling pathway genes - the X-linked ligand ectodysplasin-A (<i>EDA</i>), the receptor <i>EDAR</i> or the receptor adapter <i>EDARADD</i> - have hypohidrotic ectodermal dysplasia (HED).
|
31028034 |
2019 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this review was to update the main clinical characteristics of HED regarding to recent molecular advances in the comprehension of all the possible genes involved in this group of disorders since it is known that Eda-A1-Edar signaling has multiple roles in ectodermal organ development, regulating their initiation, morphogenesis, and differentiation steps.
|
29855039 |
2018 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This novel functional skipping-splicing EDA mutation was considered to be the cause of HED in the two pedigrees reported here.
|
29676859 |
2018 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The EDA mutations of c.878 T > G, c.663-697del and c.587-615del may be responsible for the pathogenesis of HED in their pedigrees.
|
30526585 |
2018 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.
|
28877528 |
2017 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED).
|
27054699 |
2016 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and craniofacial glands.
|
27378689 |
2016 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from México with XL-HED.
|
25626993 |
2015 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
The EDA gene of six patients with HED was sequenced.
|
26411740 |
2015 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiencies in the EDA - EDA receptor (EDAR) signalling pathway cause hypohidrotic ectodermal dysplasia (HED).
|
24508088 |
2014 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
Moreover, the involvement of mutations in other genes, such as EDA, which is also associated with HED and isolated tooth agenesis, is not clear.
|
24312213 |
2013 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Significant differences in the number of some primary missing teeth (incisor and canine) related to EDA-EDAR genes defects were detected for the first time between XLHED and autosomal recessive HED, suggesting differential local effects of EDA-EDAR genes during odontogenesis.
|
20236127 |
2010 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide.
|
19504606 |
2009 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study confirms Chassaing et al's earlier finding that mutations in EDAR account for approximately 25% of non-ED1-related HED.
|
18231121 |
2008 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This extends our knowledge of mutations in EDA1 gene that define the pathogenic basis of HED.
|
17478381 |
2007 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EDA gene cause X-linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED.
|
16029325 |
2005 |