Trait
Ectodermal dysplasia
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test27 genes linked to Ectodermal dysplasia
Changes in these genes cause rare conditions in which Ectodermal dysplasia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| EDARADDEDAR associated via death domain | Always | In 2 conditions |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HOXC13homeobox C13 | Always | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Always | In 2 conditions |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Always | In 1 condition |
| TP63tumor protein p63 | Always | In 4 conditions |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Very often (80–99%) | In 2 conditions |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Very often (80–99%) | In 1 condition |
| NFKBIANFKB inhibitor alpha | Very often (80–99%) | In 1 condition |
| WNT10AWnt family member 10A | Very often (80–99%) | In 2 conditions |
| AIREautoimmune regulator | Often (30–79%) | In 1 condition |
| KREMEN1kringle containing transmembrane protein 1 | Sometimes (5–29%) | In 1 condition |
| AXIN2axin 2 | Not recorded | In 1 condition |
| CDH3cadherin 3 | Not recorded | In 1 condition |
| EDARectodysplasin A receptor | Not recorded | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Not recorded | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Not recorded | In 1 condition |
| GJB6gap junction protein beta 6 | Not recorded | In 1 condition |
| IFT122intraflagellar transport 122 | Not recorded | In 1 condition |
| IFT43intraflagellar transport 43 | Not recorded | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Not recorded | In 1 condition |
| NECTIN4nectin cell adhesion molecule 4 | Not recorded | In 1 condition |
| NLRP1NLR family pyrin domain containing 1 | Not recorded | In 1 condition |
| PKP1plakophilin 1 | Not recorded | In 1 condition |
| SMARCAD1SNF2 related chromatin remodeling ATPase with DExD box 1 | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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