CPPB2
MCID: PRC046
MIFTS: 22

Precocious Puberty, Central, 2 (CPPB2)

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

Aliases & Classifications for Precocious Puberty, Central, 2

MalaCards integrated aliases for Precocious Puberty, Central, 2:

Name: Precocious Puberty, Central, 2 57 29 6 70
Cppb2 57 72
Precocious Puberty, Central, Type 2 39
Precocious Puberty, Central 2 72

Characteristics:

OMIM®:

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

Miscellaneous:
median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys


HPO:

31
precocious puberty, central, 2:
Inheritance autosomal dominant inheritance with maternal imprinting


Classifications:



External Ids:

OMIM® 57 615346
OMIM Phenotypic Series 57 PS176400
MeSH 44 D011629
SNOMED-CT via HPO 68 102889008 123982003 237815000
UMLS 70 C3809199

Summaries for Precocious Puberty, Central, 2

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). For discussion of genetic heterogeneity of central precocious puberty, see CPPB1 (176400). (615346) (Updated 05-Apr-2021)

MalaCards based summary : Precocious Puberty, Central, 2, is also known as cppb2. An important gene associated with Precocious Puberty, Central, 2 is MKRN3 (Makorin Ring Finger Protein 3). Affiliated tissues include pituitary and bone, and related phenotypes are accelerated skeletal maturation and premature thelarche

UniProtKB/Swiss-Prot : 72 Precocious puberty, central 2: 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, 2

Symptoms & Phenotypes for Precocious Puberty, Central, 2

Human phenotypes related to Precocious Puberty, Central, 2:

31
# Description HPO Frequency HPO Source Accession
1 accelerated skeletal maturation 31 HP:0005616
2 premature thelarche 31 HP:0010314
3 premature pubarche 31 HP:0012411

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest Breasts:
premature thelarche

Genitourinary External Genitalia Male:
premature increase in testicular volume
premature increase in penile length

Skin Nails Hair Hair:
premature pubic hair maturation

Skeletal:
advanced bone age

Genitourinary Internal Genitalia Female:
premature increase in uterine length

Endocrine Features:
premature pubertal basal levels of luteinizing hormone (lh)
premature pubertal stimulated levels of lh
elevated prepubertal levels of testosterone
elevated prepubertal levels of estradiol

Clinical features from OMIM®:

615346 (Updated 05-Apr-2021)

Drugs & Therapeutics for Precocious Puberty, Central, 2

Search Clinical Trials , NIH Clinical Center for Precocious Puberty, Central, 2

Genetic Tests for Precocious Puberty, Central, 2

Genetic tests related to Precocious Puberty, Central, 2:

# Genetic test Affiliating Genes
1 Precocious Puberty, Central, 2 29 MKRN3

Anatomical Context for Precocious Puberty, Central, 2

MalaCards organs/tissues related to Precocious Puberty, Central, 2:

40
Pituitary, Bone

Publications for Precocious Puberty, Central, 2

Articles related to Precocious Puberty, Central, 2:

# Title Authors PMID Year
1
Central precocious puberty caused by mutations in the imprinted gene MKRN3. 57 6
23738509 2013
2
Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty. 6
28672280 2017
3
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty. 6
26431553 2016

Variations for Precocious Puberty, Central, 2

ClinVar genetic disease variations for Precocious Puberty, Central, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MKRN3 NM_005664.4(MKRN3):c.637del (p.Arg213fs) Deletion Pathogenic 56901 rs879255238 GRCh37: 15:23811565-23811565
GRCh38: 15:23566418-23566418
2 MKRN3 NM_005664.4(MKRN3):c.1172dup (p.Tyr391Ter) Duplication Pathogenic 56902 rs879255239 GRCh37: 15:23812100-23812101
GRCh38: 15:23566953-23566954
3 MKRN3 NM_005664.4(MKRN3):c.1095G>T (p.Arg365Ser) SNV Pathogenic 56903 rs879255240 GRCh37: 15:23812024-23812024
GRCh38: 15:23566877-23566877
4 MKRN3 NM_005664.4(MKRN3):c.482dup (p.Ala162fs) Duplication Pathogenic 56904 rs763195944 GRCh37: 15:23811404-23811405
GRCh38: 15:23566257-23566258
5 MKRN3 NM_005664.4(MKRN3):c.982C>T (p.Arg328Cys) SNV Pathogenic 438339 rs1264639964 GRCh37: 15:23811911-23811911
GRCh38: 15:23566764-23566764
6 MKRN3 NM_005664.4(MKRN3):c.326G>A (p.Cys109Tyr) SNV Likely pathogenic 625144 rs1566764505 GRCh37: 15:23811255-23811255
GRCh38: 15:23566108-23566108
7 MKRN3 NM_005664.4(MKRN3):c.103T>G (p.Cys35Gly) SNV Uncertain significance 1030007 GRCh37: 15:23811032-23811032
GRCh38: 15:23565885-23565885

UniProtKB/Swiss-Prot genetic disease variations for Precocious Puberty, Central, 2:

72
# Symbol AA change Variation ID SNP ID
1 MKRN3 p.Arg365Ser VAR_070103 rs879255240
2 MKRN3 p.Cys340Gly VAR_073023
3 MKRN3 p.Phe417Ile VAR_073024
4 MKRN3 p.His420Gln VAR_073025 rs755791221

Expression for Precocious Puberty, Central, 2

Search GEO for disease gene expression data for Precocious Puberty, Central, 2.

Pathways for Precocious Puberty, Central, 2

GO Terms for Precocious Puberty, Central, 2

Sources for Precocious Puberty, Central, 2

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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