ectodermal dysplasia 4, hair/nail type
Findings
No curated finding names ectodermal dysplasia 4, hair/nail type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.
Definition from the Mondo Disease Ontology (MONDO:0011177), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- Absent eyebrowHPOHP:0002223
- 8 of 8 reported patients
- Absent eyelashesHPOHP:0000561
- 8 of 8 reported patients
- AlopeciaHPOHP:0001596
- 8 of 8 reported patients · Congenital onset
- Congenital onychodystrophyHPOHP:0008394
- 8 of 8 reported patients
- Nail dystrophyHPOHP:0008404
- 8 of 8 reported patients · Congenital onset
- Sparse body hairHPOHP:0002231
- 8 of 8 reported patients
- Abnormal sweat gland morphologyHPO
Genes
1 gene
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.
- KRT85HGNC:6462
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: ectodermal dysplasia 4, hair/nail type
- Also called
- KRT85 pure hair and nail ectodermal dysplasiapure hair and nail ectodermal dysplasia caused by mutation in KRT85