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monilethrix-2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monilethrix-2

MONDO:0700341

Overview

GeneticsKRT81 (chr 12)

ResearchLimited published research (1 article)

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.

KRT81 encodes keratin 81 (505 aa). Highest expression in Minor Salivary Gland (2.1 TPM) and Thyroid (1.5 TPM).

Monilethrix-2 is associated with mutations in the KRT81 gene on chromosome 12.

KRT81 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT81 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-2.

1 publication has been identified in PubMed for monilethrix-2. Research spans Review / Meta-Analysis (100%).

Recent Publications

So N (2025). [PMID: 39992008](https://pubmed.ncbi.nlm.nih.gov/39992008/). *Australas J Dermatol*. [Review / Meta-Analysis]

Data assembled from 4 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:621169

Questions for Your Care Team

→Should I pursue genetic testing for KRT81, 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-2

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team