Details of Disease

General Information of Disease (ID: DISW1TFK)

• Disease Name: Central precocious puberty
• Synonyms: gonadotropin-dependent precocious puberty; precocious puberty, central; CPP; gonadotropin-dependant precocious puberty
• Disease Class: 5A60-5A61: Pituitary gland disorder
• Definition: Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISYI2XZ: Precocious puberty
  DISW1TFK: Central precocious puberty
• ICD Code: ICD-11: ICD-11: 5A60.3
• Disease Identifiers:
  MONDO ID: MONDO_0019165
  MESH ID: D011629
  UMLS CUI: C0342543
  MedGen ID: 90985
  Orphanet ID: 759
  SNOMED CT ID: 237816004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Histrelin	DM3D4FE	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLK1	TTF4AVB	Limited	Genetic Variation	[2]
NR0B1	TTTK36V	Limited	Genetic Variation	[3]
FSHB	TT13GFV	Strong	Genetic Variation	[4]
GABRA1	TT1MPAY	Strong	Genetic Variation	[5]
GNRH1	TT0ID4A	Strong	Biomarker	[6]
IGF1	TTT6LOU	Strong	Biomarker	[7]
KISS1	TTU2O6T	Strong	Genetic Variation	[8]
PROKR2	TTM67AX	Strong	Genetic Variation	[9]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMH	OT5FH4BD	Limited	Altered Expression	[10]
CREBRF	OT2GK1HI	Strong	Biomarker	[11]
GNAS	OTMH8BKJ	Strong	Biomarker	[12]
LHB	OT5GBOVJ	Strong	Biomarker	[6]
MKRN3	OTAFO4YR	Strong	Genetic Variation	[13]

References

• [1] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 3884).
• [2] DLK1 Is a Novel Link Between Reproduction and Metabolism.J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010.
• [3] NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21.
• [4] An association study between the genetic polymorphisms within GnRHI, LH and FSH genes and central precocious puberty in Chinese girls.Neurosci Lett. 2010 Dec 17;486(3):188-92. doi: 10.1016/j.neulet.2010.09.049. Epub 2010 Oct 1.
• [5] Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities.J Clin Endocrinol Metab. 2006 Jun;91(6):2432-6. doi: 10.1210/jc.2005-2657. Epub 2006 Mar 28.
• [6] Update on the etiology, diagnosis and therapeutic management of sexual precocity.Arq Bras Endocrinol Metabol. 2008 Feb;52(1):18-31. doi: 10.1590/s0004-27302008000100005.
• [7] Manganese induces IGF-1 and cyclooxygenase-2 gene expressions in the basal hypothalamus during prepubertal female development.Toxicol Sci. 2011 Jun;121(2):389-96. doi: 10.1093/toxsci/kfr057. Epub 2011 Mar 14.
• [8] Understanding the functions of kisspeptin and kisspeptin receptor (Kiss1R) from clinical case studies.Peptides. 2019 Oct;120:170019. doi: 10.1016/j.peptides.2018.09.007. Epub 2018 Oct 16.
• [9] Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.J Cell Mol Med. 2017 Oct;21(10):2623-2626. doi: 10.1111/jcmm.13146. Epub 2017 Mar 24.
• [10] AMH levels in girls with various pubertal problems.J Pediatr Endocrinol Metab. 2017 Mar 1;30(3):333-335. doi: 10.1515/jpem-2016-0217.
• [11] Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis.J Pediatr. 1985 Jan;106(1):33-40. doi: 10.1016/s0022-3476(85)80460-1.
• [12] Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):5152-6. doi: 10.1073/pnas.89.11.5152.
• [13] MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence GNRH1 Expression.Front Endocrinol (Lausanne). 2019 Feb 8;10:48. doi: 10.3389/fendo.2019.00048. eCollection 2019.