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uncombable hair syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

uncombable hair syndrome 3

MONDO:0014990

Also known as:TCHH uncombable hair syndromeUHS3uncombable hair syndrome 3; UHS3

Overview

Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.

GeneticsAutosomal recessive · TCHH (chr 1)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include always present findings: Curly hair, Pili canaliculi, Brittle hair, and Uncombable hair.

Explore clinical features

Genetic Landscape

TCHH function has not been fully characterized.

Uncombable hair syndrome 3 is associated with mutations in the TCHH gene on chromosome 1.

Diagnosis

Genetic testing for TCHH is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for uncombable hair syndrome 3.

3 publications have been identified in PubMed for uncombable hair syndrome 3. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Yu F (2025). [PMID: 41002404](https://pubmed.ncbi.nlm.nih.gov/41002404/). *Cells*. [Review / Meta-Analysis]
Roberson JL (2024). [PMID: 38902823](https://pubmed.ncbi.nlm.nih.gov/38902823/). *Diseases of the colon and rectum*. [Basic Science / Preclinical]
Fioretti T (2024). [PMID: 38791074](https://pubmed.ncbi.nlm.nih.gov/38791074/). *Biomedicines*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617252

GARD

Genetic and Rare Diseases Info Center

GARD:16217

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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uncombable hair syndrome 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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