Preferred Label : Precocious puberty, central, 1;
Symbol : CPPB1;
CISMeF acronym : CPPB1;
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). - Genetic Heterogeneity of Central Precocious Puberty
Central precocious puberty-2 (CPPB2; 615346) is caused by mutation in the MKRN3 gene
(603856) on chromosome 15q11.;
Inheritance : Autosomal dominant;
Prefixed ID : #176400;
Origin ID : 176400;
UMLS CUI : C3805879;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
