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hypotrichosis 3 (HTSS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 3

MONDO:0013514

Also known as:HTSS2HYPT3KRT74 hypotrichosis

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.

GeneticsAutosomal dominant · KRT74 (chr 12)

Clinical Presentation

Features include always present findings: Sparse scalp hair. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Abnormal nail morphology

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).

Hypotrichosis 3 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.

Biomarker and diagnostic research for hypotrichosis 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 hypotrichosis 3.

201 publications have been identified in PubMed for hypotrichosis 3. Kisho has analyzed 145 by research type. Research spans Review / Meta-Analysis (33%), Clinical Trial Publication (27%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	48	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613981

GARD

Genetic and Rare Diseases Info Center

GARD:18094

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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hypotrichosis 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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