precocious puberty, central, 2
Findings
No curated finding names precocious puberty, central, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014137), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance with maternal imprinting
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Accelerated skeletal maturationHPOHP:0005616
- Premature pubarcheHPOHP:0012411
- Premature thelarcheHPOHP:0010314
- Female
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MKRN3HGNC:7114
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: precocious puberty, central, 2
- Also called
- central precocious puberty caused by mutation in MKRN3MKRN3 central precocious pubertyprecocious puberty, central, type 2