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precocious puberty, central, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

precocious puberty, central, 2

MONDO:0014137

Also known as:MKRN3 central precocious pubertycentral precocious puberty caused by mutation in MKRN3precocious puberty, central, type 2

Overview

Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.

GeneticsAutosomal dominant · MKRN3 (chr 15)

Clinical Presentation

Features include: Accelerated skeletal maturation, Premature pubarche, and Premature thelarche.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Accelerated skeletal maturation

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.

MKRN3 encodes makorin ring finger protein 3 (507 aa). E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Highest expression in Brain Spinal cord cervical c-1 (3.4 TPM) and Testis (1.9 TPM).

Precocious puberty, central, 2 is associated with mutations in the MKRN3 gene on chromosome 15.

MKRN3 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for MKRN3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for precocious puberty, central, 2 has been reported in the published literature.

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 precocious puberty, central, 2.

232 publications have been identified in PubMed for precocious puberty, central, 2. Kisho has analyzed 73 by research type. Research spans Review / Meta-Analysis (32%), Epidemiology / Natural History (32%), and Diagnostic / Biomarker (12%).

Research Type	Count	% of Total
Research summaries	23	32%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615346

Questions for Your Care Team

→Should I pursue genetic testing for MKRN3, 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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precocious puberty, central, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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