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monilethrix-3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monilethrix-3

MONDO:0700342

Overview

GeneticsAutosomal dominant · KRT83 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Scarring, Monilethrix, Brittle hair, and Alopecia and others.

Organ System	Phenotype Count	Example Features
Skin	3	Alopecia, Alopecia of scalp, Follicular 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.

KRT83 encodes keratin 83 (493 aa). Highest expression in Brain Spinal cord cervical c-1 (1.8 TPM) and Thyroid (1.5 TPM).

Monilethrix-3 is associated with mutations in the KRT83 gene on chromosome 12.

KRT83 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT83 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 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 monilethrix-3.

2 publications have been identified in PubMed for monilethrix-3. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Chen A (2025). [PMID: 41454067](https://pubmed.ncbi.nlm.nih.gov/41454067/). *Sci Rep*. [Other]
So N (2025). [PMID: 39992008](https://pubmed.ncbi.nlm.nih.gov/39992008/). *Australas J Dermatol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621170

Questions for Your Care Team

→Should I pursue genetic testing for KRT83, 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-3

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