MCID: PRC046
MIFTS: 19

Precocious Puberty, Central, 2

Categories: Genetic diseases, Rare diseases, Endocrine 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 73
Cppb2 57 75
Precocious Puberty, Central, Type 2 40
Precocious Puberty, Central 2 75

Characteristics:

OMIM:

57
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:

32
precocious puberty, central, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615346
MeSH 44 D011629
SNOMED-CT via HPO 69 263681008 123982003 102889008
UMLS 73 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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
premature thelarche

Genitourinary Internal Genitalia Female:
premature increase in uterine length

Skin Nails Hair Hair:
premature pubic hair maturation

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

Skeletal:
advanced bone age

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

Human phenotypes related to Precocious Puberty, Central, 2:

32
# Description HPO Frequency HPO Source Accession
1 accelerated skeletal maturation 32 HP:0005616
2 premature thelarche 32 HP:0010314

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:

41
Pituitary, Bone

Publications for Precocious Puberty, Central, 2

Variations for Precocious Puberty, Central, 2

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MKRN3 NM_005664.3(MKRN3): c.637delC (p.Arg213Glyfs) deletion Pathogenic rs879255238 GRCh38 Chromosome 15, 23566419: 23566419
2 MKRN3 NM_005664.3(MKRN3): c.637delC (p.Arg213Glyfs) deletion Pathogenic rs879255238 GRCh37 Chromosome 15, 23811566: 23811566
3 MKRN3 NM_005664.3(MKRN3): c.1172dupA (p.Tyr391Terfs) duplication Pathogenic rs879255239 GRCh38 Chromosome 15, 23566954: 23566954
4 MKRN3 NM_005664.3(MKRN3): c.1172dupA (p.Tyr391Terfs) duplication Pathogenic rs879255239 GRCh37 Chromosome 15, 23812101: 23812101
5 MKRN3 NM_005664.3(MKRN3): c.1095G> T (p.Arg365Ser) single nucleotide variant Pathogenic rs879255240 GRCh38 Chromosome 15, 23566877: 23566877
6 MKRN3 NM_005664.3(MKRN3): c.1095G> T (p.Arg365Ser) single nucleotide variant Pathogenic rs879255240 GRCh37 Chromosome 15, 23812024: 23812024
7 MKRN3 NM_005664.3(MKRN3): c.482dupC (p.Ala162Glyfs) duplication Pathogenic rs763195944 GRCh38 Chromosome 15, 23566264: 23566264
8 MKRN3 NM_005664.3(MKRN3): c.482dupC (p.Ala162Glyfs) duplication Pathogenic rs763195944 GRCh37 Chromosome 15, 23811411: 23811411
9 MKRN3 NM_005664.3(MKRN3): c.982C> T (p.Arg328Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 23811911: 23811911
10 MKRN3 NM_005664.3(MKRN3): c.982C> T (p.Arg328Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 23566764: 23566764

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 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
Content
Loading form....