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central precocious puberty 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

central precocious puberty 1

MONDO:0008302

Also known as:KISS1R central precocious pubertycentral precocious puberty caused by mutation in KISS1Rprecocious puberty, central, 1

Overview

Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.

GeneticsAutosomal dominant · KISS1R (chr 19)

OnsetADULT

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 sometimes findings: Hypothyroidism. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level

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.

KISS1R encodes KISS1 receptor (398 aa). Receptor for kisspeptins (kisspeptin-10, kisspeptin-13, kisspeptin-14 and metastin/kisspeptin-54). Highest expression in Brain Hypothalamus (3.2 TPM) and Cells EBV-transformed lymphocytes (2.5 TPM).

Central precocious puberty 1 is associated with mutations in the KISS1R gene on chromosome 19.

KISS1R is classified as a druggable target (Cell Surface, Druggable Genome, G Protein Coupled Receptor, and Transporter categories) with score 6.5.

Diagnosis

Genetic testing for KISS1R is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for central precocious puberty 1 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 central precocious puberty 1.

206 publications have been identified in PubMed for central precocious puberty 1. Kisho has analyzed 86 by research type. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	23	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:176400

Questions for Your Care Team

→Should I pursue genetic testing for KISS1R, 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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Kisho

central precocious puberty 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report.

central precocious puberty 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report.