Preferred Label : Precocious puberty, central, 2;
Symbol : CPPB2;
CISMeF acronym : CPPB2;
Type : Phenotype, molecular basis known;
Description : Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent
precocious puberty, also known as central precocious puberty, which is clinically
defined by the development of secondary sexual characteristics before the age of 8
years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions
among genetic, nutritional, environmental, and socioeconomic factors. The timing of
puberty is associated with risks of subsequent disease: earlier age of menarche in
girls is associated with increased risk of breast cancer, endometrial cancer, obesity,
type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been
associated with an increased incidence of conduct and behavior disorders during adolescence
(summary by Abreu et al., 2013). For discussion of genetic heterogeneity of central
precocious puberty, see CPPB1 (176400).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the makorin-3 gene (MKRN3, 603856.0001);
Prefixed ID : #615346;
Origin ID : 615346;
UMLS CUI : C3809199;
Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
