Precocious Puberty, Central, 1; Cppb1

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 PubertyCentral precocious puberty-2 (CPPB2 ) is caused by mutation in the MKRN3 gene (OMIM ) on chromosome 15q11.

Clinical Features

Top most frequent phenotypes and symptoms related to Precocious Puberty, Central, 1; Cppb1

  • Short stature
  • Neoplasm
  • Obesity
  • Hypothyroidism
  • Abnormality of the cardiovascular system
  • Type II diabetes mellitus
  • Cafe-au-lait spot
  • Accelerated skeletal maturation
  • Breast carcinoma
  • Precocious puberty

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including adult onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Precocious Puberty, Central, 1; Cppb1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, FGFR1, GNRH1, GNRHR, KISS1R
Specificity
15 %
Genes
100 %
KISS1R DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

KISS1R
Specificity
100 %
Genes
100 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1
Specificity
15 %
Genes
100 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
10 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 %
Kallmann Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, GNRH1, KISS1R, ANOS1, KISS1, LHB
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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