hypotrichosis 6
MONDO:0011932Mondo
Findings
No curated finding names hypotrichosis 6 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 DSG4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011932), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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.
- Brittle hairHPOHP:0002299
- 6 of 6 reported patients
- PruritusHPOHP:0000989
- 6 of 6 reported patients
- Sparse hairHPOHP:0008070
- 6 of 6 reported patients
- Sparse eyebrowHPOHP:0045075
- 2 of 6 reported patients
- Sparse eyelashesHPOHP:0000653
- 2 of 6 reported patients
- ErythemaHPOHP:0010783
- 1 of 6 reported patients
- Follicular hyperkeratosisHPOHP:0007502
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.
- HGNC:21307HGNC:21307
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
8 names
Resolves to: hypotrichosis 6
- Also called
- autosomal recessive localised hypotrichosisDSG4 hypotrichosishypotrichosis caused by mutation in DSG4hypotrichosis type 6hypotrichosis, localized, autosomal recessive 1HYPT6LAH1monilethrix-like hypotrichosis