EDA Chromosome X
Ectodysplasin A
Upload your DNA to see your personal genotypes for variants in EDA.
What This Gene Does
The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Tumor necrosis factor superfamily|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000158813
Associated Conditions (16)
Hypohidrotic X-linked ectodermal dysplasia
Inborn genetic diseases
EDA-related disorder
Asphyxiating thoracic dystrophy 3
Thyroid cancer
nonmedullary
1
Tooth agenesis
selective
X-linked
See cases
Ectodermal dysplasia
2
Anhidrotic ectodermal dysplasia
Nonpapillary renal cell carcinoma
Hypodontia
Key Variants
RS1057517882
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1085307599
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1168030930
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS132630309
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS132630315
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1326976532
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS140642493
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS144403117
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1556098806
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS1569407150
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS2020256932
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
RS2147516257
Conflicting classifications of pathogenicity
Hypohidrotic X-linked ectodermal dysplasia, Asphyxiating thoracic dystrophy 3, Hypohidrotic X-linked ectodermal dysplasia
Health Risk
All Variants (230)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727504649 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727504814 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Nonpapillary renal cell carcinoma, Hypohidrotic X-linked ectodermal dysplasia |
| RS727505013 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727505089 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS754851778 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS764146823 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS780966428 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657684 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657686 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Anhidrotic ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657687 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS879255551 | Health Risk | Pathogenic | Tooth agenesis, selective, X-linked |
| RS879255552 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS879255611 | Health Risk | Pathogenic | Tooth agenesis, selective, X-linked |
| RS886039344 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS886039466 | Health Risk | Pathogenic | — |
| RS886042021 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS886042183 | Health Risk | Pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1057517731 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1057521131 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1064793104 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS132630313 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS1556110379 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2020139491 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS2147516267 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis, selective |
| RS397516654 | Health Risk | Pathogenic/Likely pathogenic | Hypodontia, Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases |
| RS397516668 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Tooth agenesis |
| RS876657639 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS876657641 | Health Risk | Pathogenic/Likely pathogenic | Hypodontia, Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis |
| RS876657685 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder, Hypohidrotic X-linked ectodermal dysplasia |
| RS886039347 | Health Risk | Pathogenic/Likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia, See cases, EDA-related disorder |