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hypotrichosis 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 13

MONDO:0014390

Also known as:HYPT13KRT71 hypotrichosishypotrichosis caused by mutation in KRT71

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.

GeneticsAutosomal dominant · KRT71 (chr 12)

Clinical Presentation

Features include always present findings: Woolly hair, Sparse eyelashes, and Sparse hair. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Abnormal skin 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.

KRT71 encodes keratin 71 (523 aa). Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle Highest expression in Skin Sun Exposed Lower leg (0.9 TPM) and Skin Not Sun Exposed Suprapubic (0.5 TPM).

Hypotrichosis 13 is associated with mutations in the KRT71 gene on chromosome 12.

The KRT71 protein participates in Mammary stem cell produces myoepithelial/basal progenitor and Embryonic ectoderm cell produces mammary stem cell pathways.

KRT71 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT71 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypotrichosis 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 hypotrichosis 13.

120 publications have been identified in PubMed for hypotrichosis 13. Research spans Epidemiology / Natural History (27%), Review / Meta-Analysis (18%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Disease patterns and progression	32	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615896

GARD

Genetic and Rare Diseases Info Center

GARD:16029

Questions for Your Care Team

→Should I pursue genetic testing for KRT71, 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 13

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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