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autosomal dominant wooly hair - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant wooly hair

MONDO:0020717

Also known as:woolly hair, autosomal dominantwooly hair, autosomal dominantADWH

Overview

GeneticsAutosomal dominant · KRT74 (chr 12)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Woolly hair, Coarse hair, Slow-growing hair, and Dry hair. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Palmoplantar hyperkeratosis

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.

KRT74 encodes keratin 74 (529 aa). Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable) Highest expression in Testis (1.7 TPM) and Skin Sun Exposed Lower leg (1.3 TPM).

Autosomal dominant wooly hair is associated with mutations in the KRT74 gene on chromosome 12.

KRT74 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT74 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 autosomal dominant wooly hair.

7 publications have been identified in PubMed for autosomal dominant wooly hair. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Phillippi E (2025). [PMID: 40282419](https://pubmed.ncbi.nlm.nih.gov/40282419/). *Genes (Basel)*. [Basic Science / Preclinical]
Tan Y (2025). [PMID: 40766069](https://pubmed.ncbi.nlm.nih.gov/40766069/). *Front Med (Lausanne)*. [Case Report / Case Series]
Singh S (2025). [PMID: 41190500](https://pubmed.ncbi.nlm.nih.gov/41190500/). *Ann Afr Med*. [Case Report / Case Series]
Somani V (2025). [PMID: 41312319](https://pubmed.ncbi.nlm.nih.gov/41312319/). *Skin Health Dis*. [Case Report / Case Series]
Chen X (2025). [PMID: 41100400](https://pubmed.ncbi.nlm.nih.gov/41100400/). *J Dermatol*. [Case Report / Case Series]
Xiong X (2024). [PMID: 39026424](https://pubmed.ncbi.nlm.nih.gov/39026424/). *Br J Dermatol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:194300

Questions for Your Care Team

→Should I pursue genetic testing for KRT74, and what would the results mean for my family?
→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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autosomal dominant wooly hair

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team