autosomal dominant hypohidrotic ectodermal dysplasia
Findings
No curated finding names autosomal dominant hypohidrotic ectodermal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant form of hypohidrotic ectodermal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0015884), read 2026-09-29. CC BY 4.0.
Features
15 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)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Very frequent (80% to 99% of cases)
- Premature loss of primary teethHPOHP:0006323
- Very frequent (80% to 99% of cases)
- Sparse body hairHPOHP:0002231
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Thin skinHPOHP:0000963
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Occasional (5% to 29% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Occasional (5% to 29% of cases)
Show the remaining 3
- Malignant hyperthermiaHPOHP:0002047
- Occasional (5% to 29% of cases)
- Prominent foreheadHPOHP:0011220
- Occasional (5% to 29% of cases)
- Thick vermilion borderHPOHP:0012471
- Occasional (5% to 29% of cases)
Genes
4 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
3 names
Resolves to: autosomal dominant hypohidrotic ectodermal dysplasia
- Also called
- AD-HEDautosomal dominant anhidrotic ectodermal dysplasiahypohidrotic ectodermal dysplasia, autosomal dominant