ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Findings
No curated finding names ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0015024), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Acne inversaHPOHP:0040154
- 6 of 6 reported patients
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- HypohidrosisHPOHP:0000966
- 6 of 6 reported patients
- Hypoplastic sweat glandsHPOHP:0007387
- 1 of 1 reported patient
- OrthokeratosisHPOHP:0040162
- 1 of 1 reported patient
- Palmar hyperlinearityHPOHP:0033252
- 6 of 6 reported patients
- Sparse lateral eyebrowHPOHP:0005338
Show the remaining 5
- Knuckle padHPOHP:0032541
- 2 of 6 reported patients
- Cleft palateHPOHP:0000175
- 1 of 6 reported patients
- Natal toothHPOHP:0000695
- 1 of 6 reported patients
- Scarring alopecia of scalpHPOHP:0004552
- 1 of 6 reported patients
- Trichorrhexis nodosaHPOHP:0009886
- 1 of 6 reported patients
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.
- KDF1HGNC:26624
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
- Also called
- ECTD12ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12ectodermal dysplasia syndrome caused by mutation in KDF1KDF1 ectodermal dysplasia syndrome