uncombable hair syndrome 3
Findings
No curated finding names uncombable hair syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.
Definition from the Mondo Disease Ontology (MONDO:0014990), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
4 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
- 1 of 1 reported patient
- Curly hairHPOHP:0002212
- 1 of 1 reported patient
- Pili canaliculiHPOHP:0002235
- 1 of 1 reported patient
- Uncombable hairHPOHP:0030056
- 1 of 1 reported patient
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.
- TCHHHGNC:11791
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: uncombable hair syndrome 3
- Also called
- TCHH uncombable hair syndromeUHS3uncombable hair syndrome 3; UHS3uncombable hair syndrome caused by mutation in TCHHuncombable hair syndrome type 3