hypotrichosis 5
MONDO:0013017Mondo
Findings
No curated finding names hypotrichosis 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.
Definition from the Mondo Disease Ontology (MONDO:0013017), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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 nail morphologyHPOHP:0001597
- 0 of 9 reported patients
- Abnormal sweat gland morphologyHPOHP:0000971
- 0 of 9 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 9 reported patients
- Hearing abnormalityHPOHP:0000364
- 0 of 9 reported patients
- Absent axillary hairHPOHP:0002221
- Absent pubic hairHPOHP:0002555
- AlopeciaHPOHP:0001596
- Sparse eyelashes
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.
- EPS8L3HGNC:21297
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hypotrichosis 5
- Also called
- hypotrichosis type 5HYPT5Marie Unna hereditary hypotrichosis 2MUHH2