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hypotrichosis 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 12

MONDO:0014384

Also known as:HYPT12RPL21 hypotrichosishypotrichosis caused by mutation in RPL21

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.

GeneticsAutosomal dominant · RPL21 (chr 13)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Dry hair and Sparse scalp hair; and very common findings: Sparse or absent eyelashes, Sparse pubic hair, and Sparse axillary hair. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal nail morphology, Abnormality of the skin

Explore clinical features

Genetic Landscape

RPL21 function has not been fully characterized.

Hypotrichosis 12 is associated with mutations in the RPL21 gene on chromosome 13.

Diagnosis

Genetic testing for RPL21 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypotrichosis 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 1 common 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 12.

201 publications have been identified in PubMed for hypotrichosis 12. Kisho has analyzed 139 by research type. Research spans Clinical Trial Publication (30%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (24%).

Research Type	Count	% of Total
Clinical study results	42	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615885

GARD

Genetic and Rare Diseases Info Center

GARD:16027

Questions for Your Care Team

→Should I pursue genetic testing for RPL21, 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 12

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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