hypotrichosis 2
MONDO:0007805Mondo
Findings
No curated finding names hypotrichosis 2 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 CDSN gene.
Definition from the Mondo Disease Ontology (MONDO:0007805), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
3 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
- 34 of 34 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 34 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 34 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.
- CDSNHGNC:1802
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2024
Where it sits
Other names
5 names
Resolves to: hypotrichosis 2
- Also called
- CDSN hypotrichosishypotrichosis caused by mutation in CDSNhypotrichosis simplex of the scalp 1hypotrichosis type 2HYPT2