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uncombable hair syndrome 1 (UHS1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

uncombable hair syndrome 1

MONDO:0020736

Also known as:UHS1pili trianguli Et canaliculiuncombable hair syndrome

Overview

GeneticsAutosomal recessive · PADI3 (chr 1)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Pili canaliculi, Uncombable hair, and Dry hair.

Explore clinical features

Genetic Landscape

PADI3 function has not been fully characterized.

Uncombable hair syndrome 1 is associated with mutations in the PADI3 gene on chromosome 1.

Diagnosis

Genetic testing for PADI3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for uncombable hair syndrome 1 has been reported in the published literature.

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 1.

8 publications have been identified in PubMed for uncombable hair syndrome 1. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (13%).

Recent Publications

Vikhe Patil K (2025). [PMID: 40938992](https://pubmed.ncbi.nlm.nih.gov/40938992/). *Sci Adv*. [Basic Science / Preclinical]
Sechi A (2025). [PMID: 39731451](https://pubmed.ncbi.nlm.nih.gov/39731451/). *Pediatr Dermatol*. [Case Report / Case Series]
Fogla N (2025). [PMID: 40177805](https://pubmed.ncbi.nlm.nih.gov/40177805/). *Pediatr Dermatol*. [Diagnostic / Biomarker]
Roberson JL (2024). [PMID: 38902823](https://pubmed.ncbi.nlm.nih.gov/38902823/). *Dis Colon Rectum*. [Epidemiology / Natural History]
Calvo-Asín C (2024). [PMID: 38456245](https://pubmed.ncbi.nlm.nih.gov/38456245/). *Pediatr Dermatol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:191480

GARD

Genetic and Rare Diseases Info Center

GARD:15122

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 1

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