autosomal recessive hypohidrotic ectodermal dysplasia
Findings
No curated finding names autosomal recessive hypohidrotic ectodermal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.
Definition from the Mondo Disease Ontology (MONDO:0016619), read 2026-09-29. CC BY 4.0.
Features
10 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 fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Hypoplasia of teethHPOHP:0000685
- Very frequent (80% to 99% of cases)
- Premature loss of primary teethHPOHP:0006323
- Very frequent (80% to 99% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- HypohidrosisHPOHP:0000966
- Frequent (30% to 79% 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 recessive hypohidrotic ectodermal dysplasia
- Also called
- AR-HEDautosomal recessive anhidrotic ectodermal dysplasiahypohidrotic ectodermal dysplasia, autosomal recessive