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uncombable hair syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

uncombable hair syndrome 2

MONDO:0014989

Also known as:TGM3 uncombable hair syndromeUHS2uncombable hair syndrome 2; UHS2

Overview

Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.

GeneticsAutosomal recessive · TGM3 (chr 20)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Pili canaliculi, Uncombable hair, and Juvenile cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Juvenile cataract

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Genetic Landscape

TGM3 function has not been fully characterized.

Uncombable hair syndrome 2 is associated with mutations in the TGM3 gene on chromosome 20.

Diagnosis

Genetic testing for TGM3 is available. Testing is considered confirmatory for diagnosis.

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 2.

1 publication has been identified in PubMed for uncombable hair syndrome 2. Research spans Other (100%).

Recent Publications

Roberson JL (2024). [PMID: 38902823](https://pubmed.ncbi.nlm.nih.gov/38902823/). *Dis Colon Rectum*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:23 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617251

GARD

Genetic and Rare Diseases Info Center

GARD:16216

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 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team