ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, it has remained largely unknown how dominant mutations in the EDAR cause HED.
|
31245878 |
2019 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive (AR) forms of HED may be caused by pathogenic variants of the ectodysplasin A1 receptor (EDAR) gene that encodes a receptor involved in the NF-κB signaling pathway.
|
30623979 |
2019 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
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 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated.
|
27657131 |
2016 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients.
|
27305980 |
2016 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
|
27305980 |
2016 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
|
24641098 |
2015 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Hair shaft structures in EDAR induced ectodermal dysplasia.
|
26336973 |
2015 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.
|
24884697 |
2014 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
|
23401279 |
2013 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
|
22032522 |
2012 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
|
20979233 |
2011 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
|
20979233 |
2011 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
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 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
|
19438931 |
2009 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency).
|
19504606 |
2009 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia.
|
19551394 |
2009 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED.
|
18231121 |
2008 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED.
|
18231121 |
2008 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study demonstrates that EDAR is implicated in about 25% of non-ED1 HED, and may account for both autosomal-dominant and -recessive forms.
|
16435307 |
2006 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
|
17125505 |
2006 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Our study demonstrates that EDAR is implicated in about 25% of non-ED1 HED, and may account for both autosomal-dominant and -recessive forms.
|
16435307 |
2006 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.
|
17125505 |
2006 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
We describe novel mutations in the EDAR gene in two Pakistani families affected with the autosomal recessive form of HED.
|
16029325 |
2005 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe novel mutations in the EDAR gene in two Pakistani families affected with the autosomal recessive form of HED.
|
16029325 |
2005 |