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wooly hair, autosomal recessive 3 (ARWH3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

wooly hair, autosomal recessive 3

MONDO:0014765

Also known as:ARWH3KRT25 woolly hair (disease)KRT25 wooly hair (disease)

Overview

Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.

GeneticsAutosomal recessive · KRT25 (chr 17)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Curly hair, Fine hair, Sparse scalp hair, and Trichorrhexis nodosa and 2 more.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KRT25 encodes keratin 25 (450 aa). Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs). Highest expression in Testis (2.0 TPM) and Nerve Tibial (0.3 TPM).

Wooly hair, autosomal recessive 3 is associated with mutations in the KRT25 gene on chromosome 17.

KRT25 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT25 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 wooly hair, autosomal recessive 3.

5 publications have been identified in PubMed for wooly hair, autosomal recessive 3. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Cadiravane S (2026). [PMID: 41818120](https://pubmed.ncbi.nlm.nih.gov/41818120/). *J Assoc Physicians India*. [Case Report / Case Series]
Yang M (2025). [PMID: 41064314](https://pubmed.ncbi.nlm.nih.gov/41064314/). *Case Rep Dermatol*. [Case Report / Case Series]
Zhang X (2025). [PMID: 40417239](https://pubmed.ncbi.nlm.nih.gov/40417239/). *Front Genet*. [Basic Science / Preclinical]
Isa HM (2024). [PMID: 39811235](https://pubmed.ncbi.nlm.nih.gov/39811235/). *Cureus*. [Case Report / Case Series]
Minakawa S (2024). [PMID: 38818404](https://pubmed.ncbi.nlm.nih.gov/38818404/). *Front Med (Lausanne)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616760

GARD

Genetic and Rare Diseases Info Center

GARD:16157

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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wooly hair, autosomal recessive 3

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