Genetic central precocious puberty in female

Summary

Genetic central precocious puberty in female (MONDO:0958354) is a disease. A subtype of central precocious puberty — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	3	Europe	Validated
Point prevalence	1-9 / 100 000	7.8	Korea, Democratic People’s Republic of	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	genetic central precocious puberty in female
Mondo ID	MONDO:0958354
Orphanet	650077
UMLS	C5816765
MedGen	1853156
GARD	0027028
Is cancer (heuristic)	no

Disease family

This is a subtype of central precocious puberty. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › gonadal disorder › precocious puberty › central precocious puberty › genetic central precocious puberty in female

Related subtypes (6): central precocious puberty 1, precocious puberty, central, 2, idiopathic central precocious puberty, secondary central precocious puberty, central precocious puberty in male, secondary central precocious puberty in female

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.