EDARADD Chromosome 1
EDAR associated via death domain
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What This Gene Does
This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Associated Conditions (13)
Ectodermal dysplasia 11A
hypohidrotic/hair/tooth type
autosomal dominant
Ectodermal dysplasia 11B
autosomal recessive
Hypohidrotic ectodermal dysplasia
Inborn genetic diseases
Tooth agenesis
Ectodermal dysplasia 10A
hypohidrotic/hair/nail type
ECTODERMAL DYSPLASIA 11B
HYPOHIDROTIC/HAIR/TOOTH TYPE
AUTOSOMAL DOMINANT
Key Variants
RS1005957166
Conflicting classifications of pathogenicity
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Health Risk
RS759461234
Conflicting classifications of pathogenicity
Hypohidrotic ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic ectodermal dysplasia
Health Risk
RS1030214435
Likely pathogenic
Tooth agenesis, Tooth agenesis
Health Risk
RS1553271837
Likely pathogenic
Health Risk
RS2103042605
Likely pathogenic
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Health Risk
RS74315309
Likely pathogenic
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Health Risk
RS879255629
Likely pathogenic
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
Health Risk
RS121908116
Pathogenic
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Health Risk
RS1657345576
Pathogenic
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Health Risk
RS200017138
Pathogenic
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Health Risk
RS2526890961
Pathogenic
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Health Risk
RS2526927321
Pathogenic
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1005957166 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
| RS759461234 | Health Risk | Conflicting classifications of pathogenicity | Hypohidrotic ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic ectodermal dysplasia |
| RS1030214435 | Health Risk | Likely pathogenic | Tooth agenesis, Tooth agenesis |
| RS1553271837 | Health Risk | Likely pathogenic | — |
| RS2103042605 | Health Risk | Likely pathogenic | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
| RS74315309 | Health Risk | Likely pathogenic | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS879255629 | Health Risk | Likely pathogenic | ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT |
| RS121908116 | Health Risk | Pathogenic | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
| RS1657345576 | Health Risk | Pathogenic | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS200017138 | Health Risk | Pathogenic | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS2526890961 | Health Risk | Pathogenic | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
| RS2526927321 | Health Risk | Pathogenic | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS766500689 | Health Risk | Pathogenic | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS879255553 | Health Risk | Pathogenic | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| RS954823206 | Health Risk | Pathogenic | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |