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monilethrix-1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monilethrix-1

MONDO:0700343

Overview

GeneticsAutosomal dominant · KRT86 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Alopecia, Brittle hair, Nail dysplasia, and Keratosis pilaris and 4 more.

Organ System	Phenotype Count	Example Features
Skin	4	Alopecia, Nail dysplasia, Perifollicular 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.

KRT86 encodes keratin 86 (486 aa). Highest expression in Testis (9.7 TPM) and Artery Coronary (4.8 TPM).

Monilethrix-1 is associated with mutations in the KRT86 gene on chromosome 12.

The KRT86 protein participates in Mammary stem cell produces myoepithelial/basal progenitor and Embryonic ectoderm cell produces mammary stem cell pathways.

KRT86 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT86 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 monilethrix-1.

2 publications have been identified in PubMed for monilethrix-1. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

So N (2025). [PMID: 39992008](https://pubmed.ncbi.nlm.nih.gov/39992008/). *Australas J Dermatol*. [Review / Meta-Analysis]
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 18, 2026, 2:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158000

Questions for Your Care Team

→Should I pursue genetic testing for KRT86, 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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monilethrix-1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team