CPPB1
MCID: PRC047
MIFTS: 22

Precocious Puberty, Central, 1 (CPPB1)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Precocious Puberty, Central, 1

MalaCards integrated aliases for Precocious Puberty, Central, 1:

Name: Precocious Puberty, Central, 1 57 29 6 70
Cppb1 57 72
Precocious Puberty, Central 1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
precocious puberty, central, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 176400
OMIM Phenotypic Series 57 PS176400
MeSH 44 D011629
UMLS 70 C3805879

Summaries for Precocious Puberty, Central, 1

OMIM® : 57 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). (176400) (Updated 05-Apr-2021)

MalaCards based summary : Precocious Puberty, Central, 1, also known as cppb1, is related to precocious puberty, central, 2. An important gene associated with Precocious Puberty, Central, 1 is KISS1R (KISS1 Receptor). Affiliated tissues include pituitary, and related phenotypes are hypothyroidism and short stature

UniProtKB/Swiss-Prot : 72 Precocious puberty, central 1: A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis.

Related Diseases for Precocious Puberty, Central, 1

Diseases in the Precocious Puberty family:

Precocious Puberty, Central, 1 Precocious Puberty, Central, 2
Central Precocious Puberty Secondary Central Precocious Puberty
Rare Precocious Puberty

Diseases related to Precocious Puberty, Central, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 precocious puberty, central, 2 11.0

Symptoms & Phenotypes for Precocious Puberty, Central, 1

Human phenotypes related to Precocious Puberty, Central, 1:

31
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 occasional (7.5%) HP:0000821
2 short stature 31 HP:0004322
3 elevated circulating follicle stimulating hormone level 31 HP:0008232
4 elevated circulating luteinizing hormone level 31 HP:0011969
5 isosexual precocious puberty 31 HP:0008236

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine:
isosexual precocious puberty
occasional hypothyroidism

Misc:
onset of menarche before age 8.5 years or male pubertal changes before age 10 years

Growth:
reduced adult height

Lab:
increased secretion of lh and fsh

Clinical features from OMIM®:

176400 (Updated 05-Apr-2021)

Drugs & Therapeutics for Precocious Puberty, Central, 1

Search Clinical Trials , NIH Clinical Center for Precocious Puberty, Central, 1

Genetic Tests for Precocious Puberty, Central, 1

Genetic tests related to Precocious Puberty, Central, 1:

# Genetic test Affiliating Genes
1 Precocious Puberty, Central, 1 29 KISS1R

Anatomical Context for Precocious Puberty, Central, 1

MalaCards organs/tissues related to Precocious Puberty, Central, 1:

40
Pituitary

Publications for Precocious Puberty, Central, 1

Articles related to Precocious Puberty, Central, 1:

(show all 14)
# Title Authors PMID Year
1
A GPR54-activating mutation in a patient with central precocious puberty. 57 6
18272894 2008
2
Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty. 57
28672280 2017
3
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty. 57
26431553 2016
4
Central precocious puberty caused by mutations in the imprinted gene MKRN3. 57
23738509 2013
5
Familial central precocious puberty suggests autosomal dominant inheritance. 57
15070947 2004
6
Clinical review 148: Monogenic disorders of puberty. 57
12050203 2002
7
Increased final height in precocious puberty after long-term treatment with LHRH agonists: the National Institutes of Health experience. 57
11600530 2001
8
Familial precocious puberty in girls. 57
8423588 1993
9
Familial precocious puberty in girls. 57
1404207 1992
10
Familial male sexual precocity: report of the eleventh kindred found, with observations on blood group linkage and urinary C19-steroid excretion. 57
13969962 1962
11
Growth disturbances and values for hormone excretion in various forms of precocious sexual development. 57
13699158 1961
12
Idiopathic sexual precocity in the female; report of three cases. 57
13237387 1955
13
Familial constitutional precocious puberty in a boy three years of age: report of a case. 57
13133567 1954
14
Hereditary sexual precocity; report of a family with 27 affected members. 57
14929627 1952

Variations for Precocious Puberty, Central, 1

ClinVar genetic disease variations for Precocious Puberty, Central, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KISS1R NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) SNV Pathogenic 5760 rs121908499 GRCh37: 19:920708-920708
GRCh38: 19:920708-920708
2 KISS1R NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) SNV Likely pathogenic 5759 rs104894703 GRCh37: 19:918604-918604
GRCh38: 19:918604-918604
3 KISS1R NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser) SNV Uncertain significance 800826 rs61735615 GRCh37: 19:919559-919559
GRCh38: 19:919559-919559

UniProtKB/Swiss-Prot genetic disease variations for Precocious Puberty, Central, 1:

72
# Symbol AA change Variation ID SNP ID
1 KISS1R p.Arg386Pro VAR_043907 rs121908499

Expression for Precocious Puberty, Central, 1

Search GEO for disease gene expression data for Precocious Puberty, Central, 1.

Pathways for Precocious Puberty, Central, 1

GO Terms for Precocious Puberty, Central, 1

Sources for Precocious Puberty, Central, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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