|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
Hair shaft structures in EDAR induced ectodermal dysplasia.
|
26336973 |
2015 |
|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
|
10431241 |
1999 |
|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
|
10431241 |
1999 |
|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
|
10431241 |
1999 |
|
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 |
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 |
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 |
Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.
|
15373768 |
2004 |
|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.
|
15373768 |
2004 |
|
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 |
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 |
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 |