MCID: PRC047
MIFTS: 20

Precocious Puberty, Central, 1

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

Aliases & Classifications for Precocious Puberty, Central, 1

MalaCards integrated aliases for Precocious Puberty, Central, 1:

Name: Precocious Puberty, Central, 1 57 73
Cppb1 57 75
Precocious Puberty, Central 1 75
Puberty, Precocious 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
precocious puberty, central, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176400
MedGen 42 C0342543
MeSH 44 D011629
UMLS 73 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)

MalaCards based summary : Precocious Puberty, Central, 1, also known as cppb1, is related to precocious puberty and central precocious puberty. 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 : 75 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

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 12.1
2 central precocious puberty 11.3
3 spastic paraplegia with precocious puberty 11.1
4 familial male-limited precocious puberty 11.1
5 precocious puberty, central, 2 11.0

Graphical network of the top 20 diseases related to Precocious Puberty, Central, 1:



Diseases related to Precocious Puberty, Central, 1

Symptoms & Phenotypes for Precocious Puberty, Central, 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Precocious Puberty, Central, 1:

32
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 occasional (7.5%) HP:0000821
2 short stature 32 HP:0004322
3 elevated circulating follicle stimulating hormone level 32 HP:0008232
4 isosexual precocious puberty 32 HP:0008236
5 elevated circulating luteinizing hormone level 32 HP:0011969

Drugs & Therapeutics for Precocious Puberty, Central, 1

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

Cochrane evidence based reviews: puberty, precocious

Genetic Tests for Precocious Puberty, Central, 1

Anatomical Context for Precocious Puberty, Central, 1

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

41
Pituitary

Publications for Precocious Puberty, Central, 1

Variations for Precocious Puberty, Central, 1

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

75
# Symbol AA change Variation ID SNP ID
1 KISS1R p.Arg386Pro VAR_043907 rs121908499

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KISS1R NM_032551.4(KISS1R): c.1157G> C (p.Arg386Pro) single nucleotide variant Likely pathogenic rs121908499 GRCh37 Chromosome 19, 920708: 920708
2 KISS1R NM_032551.4(KISS1R): c.1157G> C (p.Arg386Pro) single nucleotide variant Likely pathogenic rs121908499 GRCh38 Chromosome 19, 920708: 920708

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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