hypohidrotic ectodermal dysplasia
Findings
No curated finding names hypohidrotic ectodermal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).
Definition from the Mondo Disease Ontology (MONDO:0016535), read 2026-09-29. CC BY 4.0.
Features
44 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.
- Abnormal dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Generalized hypotrichosisHPOHP:0004528
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- HypohidrosisHPO · MondoHP:0000966
- Very frequent (80% to 99% of cases)
- Sparse body hairHPOHP:0002231
- Very frequent (80% to 99% of cases)
- Sparse scalp hair
Show the remaining 32
- Brittle hairHPOHP:0002299
- Frequent (30% to 79% of cases)
- Conical toothHPOHP:0000698
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
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: hypohidrotic ectodermal dysplasia
- Also called
- anhidrotic ectodermal dysplasiaanhidrotic ectodermal dysplasia 1anhidrotic ectodermal dysplasia 3ectodermal dysplasia 1, AnhydroticHEDhypohidrotic X-linked ectodermal dysplasia