X-linked hypohidrotic ectodermal dysplasia
Findings
No curated finding names X-linked hypohidrotic ectodermal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.
Definition from the Mondo Disease Ontology (MONDO:0010585), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent eyebrowHPOHP:0002223
- 2 of 2 reported patients
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 2 of 2 reported patients
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Fine hairHPOHP:0002213
- 1 of 1 reported patient
- HypodontiaHPOHP:0000668
Show the remaining 13
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Thick vermilion borderHPOHP:0012471
- 1 of 1 reported patient
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
6 names
Resolves to: X-linked hypohidrotic ectodermal dysplasia
- Also called
- anhidrotic ectodermal dysplasia X-linkedChrist-Siemens-Touraine syndromeectodermal dysplasia 1, hypohidrotic, X-linkedectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linkedhypohidrotic ectodermal dysplasia, X-linkedXHED