hypotrichosis 3
MONDO:0013514Mondo
Findings
No curated finding names hypotrichosis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.
Definition from the Mondo Disease Ontology (MONDO:0013514), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- Sparse scalp hairHPOHP:0002209
- 14 of 14 reported patients
- Abnormal eyelash morphologyHPOHP:0000499
- 0 of 14 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 14 reported patients
- Abnormal sweat gland morphologyHPOHP:0000971
- 0 of 14 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 14 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.
- KRT74HGNC:28929
- Moderate · G2P · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: hypotrichosis 3
- Also called
- HTSS2hypotrichosis caused by mutation in KRT74hypotrichosis simplex of the scalp 2hypotrichosis type 3HYPT3KRT74 hypotrichosis