Precocious Puberty disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRC019 MIFTS: 48	Precocious Puberty Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Precocious Puberty

MalaCards integrated aliases for Precocious Puberty:

Name: Precocious Puberty ²⁰ ³⁶ ²⁹ ⁶ ⁷⁰ ³²

Cryptogenic Sexual Precocity ⁷⁰

Familial Precocious Puberty ²⁰

Idiopathic Sexual Precocity ²⁰

Puberty Precocious ⁵⁴

Sexual Precocity ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Disorders of puberty, not elsewhere classified

Precocious puberty

External Ids:

KEGG ³⁶ H00937

ICD10 ³² E30.1

UMLS ⁷⁰ C0034013 C0271527

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Summaries for Precocious Puberty

KEGG : ³⁶ Precocious puberty has been classically defined as the onset of secondary sexual characteristics in girls younger than 8 years old and in boys younger than 9 and a half years old. Central precocious puberty (CEPREPU) refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis (HPG). CEPREPU is much more frequent in girls than in boys (up to 20:1 ratio). Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were revealed as major gatekeepers of puberty onset. Mutations of the KISS1R gene were described in patients with impaired pubertal development. On the other hand, it has been reported that heterozygous mutations of the LHCGR gene cause gonadotropin-independent precocious puberty in males, but have no detectable effects on prepubertal or postpubertal females.

MalaCards based summary : Precocious Puberty, also known as cryptogenic sexual precocity, is related to central precocious puberty and idiopathic central precocious puberty. An important gene associated with Precocious Puberty is LOC100507346 (Uncharacterized LOC100507346), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. The drugs Megestrol acetate and Prolactin Release-Inhibiting Factors have been mentioned in the context of this disorder. Affiliated tissues include pituitary, ovary and pineal, and related phenotypes are endocrine/exocrine gland and integument

GARD : ²⁰ Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always known. Some cases of precocious puberty are due to conditions that cause changes in the body's release of hormones. Treatment involves medications that can stop the release of sexual hormones.

Wikipedia : ⁷³ In medicine, precocious puberty is puberty occurring at an unusually early age. In most cases, the... more...

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Related Diseases for Precocious Puberty

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 474)

#	Related Disease	Score	Top Affiliating Genes
1	central precocious puberty	32.6	MKRN3 KISS1R KISS1 GNRH1 GH1
2	idiopathic central precocious puberty	32.4	MKRN3 KISS1R KISS1
3	hypothalamic hamartomas	32.1	KISS1R KISS1 GNRH1
4	precocious puberty, male-limited	31.3	STON1-GTF2A1L MKRN3 LHCGR KISS1R KISS1 GNRH1
5	ovarian cyst	31.0	GNRH1 GNAS
6	hypogonadism	31.0	LHCGR KISS1R KISS1 GNRH1
7	hyperprolactinemia	30.7	GNRH1 GNAS GH1
8	leydig cell tumor	30.6	LHCGR GNRH1 GNAS CYP21A2
9	empty sella syndrome	30.5	GNRH1 GH1
10	hypothalamic disease	30.4	GNRH1 GH1
11	hypothyroidism	30.4	GNRH1 GNAS GH1 FSHR
12	estrogen excess	30.4	GNRH1 FSHR
13	polycystic ovary syndrome	30.4	GNRH1 GH1 FSHR CYP21A2
14	fibrous dysplasia/mccune-albright syndrome	30.4	GNAS GH1
15	prader-willi syndrome	30.4	MKRN3 LEPR GNRH1 GH1
16	hypogonadotropic hypogonadism	30.4	LHCGR LEPR KISS1R KISS1 GNRH1
17	leydig cell hypoplasia	30.3	STON1-GTF2A1L LHCGR
18	pituitary adenoma	30.3	GNRH1 GNAS GH1
19	adenoma	30.2	LHCGR GNAS GH1 CYP21A2
20	pituitary tumors	30.2	GNAS GH1
21	amenorrhea	30.2	LHCGR GNRH1 FSHR
22	46 xx gonadal dysgenesis	30.2	LHCGR FSHR
23	pituitary gland disease	30.1	GNRH1 GNAS GH1
24	temple syndrome	30.1	MKRN3 KISS1 GNAS
25	craniopharyngioma	30.1	PTCH1 LEPR GNRH1 GH1
26	overgrowth syndrome	30.0	PTCH1 LOC100507346
27	pseudohermaphroditism	30.0	STON1-GTF2A1L LHCGR FSHR CYP21A2
28	pseudohypoparathyroidism, type ia	30.0	GNAS GH1
29	luteoma	30.0	FSHR CYP21A2
30	hyperinsulinism	30.0	LEPR GNRH1 GH1
31	normosmic congenital hypogonadotropic hypogonadism	29.9	KISS1R KISS1 GNRH1
32	pituitary adenoma, prolactin-secreting	29.8	GNRH1 GNAS GH1
33	cryptorchidism, unilateral or bilateral	29.7	MKRN3 LHCGR KISS1R KISS1 GNRH1 FSHR
34	anovulation	29.6	KISS1 GNRH1 FSHR CYP21A2
35	conn's syndrome	29.5	LHCGR GNRH1 GNAS GH1 CYP21A2
36	congenital hydrocephalus	29.5	PTCH1 LOC100507346
37	body mass index quantitative trait locus 11	29.5	LEPR GNAS GH1 FSHR CYP21A2
38	acromegaly	29.4	LEPR GNRH1 GNAS GH1
39	premature menopause	29.3	LHCGR KISS1R KISS1 GNRH1 FSHR CYP21A2
40	infertility	29.1	LHCGR LEPR KISS1 GNRH1 FSHR CYP21A2
41	kallmann syndrome	28.8	MKRN3 LEPR KISS1R KISS1 GNRH1 FSHR
42	precocious puberty, central, 2	11.8
43	precocious puberty, central, 1	11.8
44	mccune-albright syndrome	11.7
45	spastic paraplegia with precocious puberty	11.6
46	precocious puberty, gonadotropin-dependent	11.4
47	aromatase excess syndrome	11.3
48	precocious puberty in female	11.2
49	rare peripheral precocious puberty	11.2
50	rare precocious puberty	11.2

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

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Symptoms & Phenotypes for Precocious Puberty

MGI Mouse Phenotypes related to Precocious Puberty:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.97	FSHR GNAS GNRH1 KISS1 KISS1R LEPR
2	integument	MP:0010771	9.92	CYP21A2 FSHR GNAS GNRH1 KISS1 KISS1R
3	adipose tissue	MP:0005375	9.91	FSHR GNAS KISS1 KISS1R LEPR LHCGR
4	digestive/alimentary	MP:0005381	9.88	GNRH1 KISS1 KISS1R LEPR LHCGR PTCH1
5	liver/biliary system	MP:0005370	9.73	GNAS GNRH1 KISS1 KISS1R LEPR LHCGR
6	neoplasm	MP:0002006	9.55	FSHR GNAS GNRH1 LEPR PTCH1
7	renal/urinary system	MP:0005367	9.5	GNAS GNRH1 KISS1 KISS1R LEPR LHCGR
8	reproductive system	MP:0005389	9.17	FSHR GNRH1 KISS1 KISS1R LEPR LHCGR

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Drugs & Therapeutics for Precocious Puberty

Drugs for Precocious Puberty (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Megestrol acetate

Approved, Investigational, Vet_approved

Phase 4

595-33-5

11683

Prolactin Release-Inhibiting Factors

Phase 4

Contraceptive Agents

Phase 4

Central Nervous System Stimulants

Phase 4

Megestrol

Phase 4

3562-63-8

19090 3080587

Contraceptives, Oral

Phase 4

Pharmaceutical Solutions

Phase 3

Triptorelin Pamoate

Phase 3

Testosterone

Approved, Investigational

Phase 2

58-22-0

6013

Bicalutamide

Approved

Phase 2

90357-06-5

56069 2375

Anastrozole

Approved, Investigational

Phase 2

120511-73-1

2187

Testolactone

Approved, Investigational

Phase 2

968-93-4

13769

Spironolactone

Approved

Phase 2

1952-01-7, 52-01-7

5833

Fulvestrant

Approved, Investigational

Phase 2

129453-61-8

104741 17756771

Deslorelin

Investigational, Vet_approved

Phase 2

57773-65-6

Hormone Antagonists

Phase 2

Aromatase Inhibitors

Phase 2

Androgen Antagonists

Phase 2

Mineralocorticoid Receptor Antagonists

Phase 2

Diuretics, Potassium Sparing

Phase 2

Mineralocorticoids

Phase 2

diuretics

Phase 2

Estrogen Receptor Antagonists

Phase 2

Estrogen Antagonists

Phase 2

Estrogens

Phase 2

Letrozole

Approved, Investigational

Phase 1

112809-51-5

3902

Ganirelix

Approved

Early Phase 1

124904-93-4, 123246-29-7

25081094

Epinephrine

Approved, Vet_approved

51-43-4

5816

Racepinephrine

Approved

329-65-7

838

Leuprolide

Approved, Investigational

53714-56-0

3911 657181

Metformin

Approved

657-24-9

14219 4091

Liver Extracts

Tin Fluorides

Follicle Stimulating Hormone

Early Phase 1

Tea

Androgens

Epinephryl borate

Antineoplastic Agents, Hormonal

Hormones

Hypoglycemic Agents

Interventional clinical trials:

(show all 49)

#	Name	Status	NCT ID	Phase	Drugs
1	Analysis of Genetic and Environmental Parameters Influencing Growth Rate of Precocious Puberty Children	Unknown status	NCT00438217	Phase 4	Triptorelin (GnRH agonists);Leuprolide (GnRH agonists)
2	Analysis of Body Mass Index in Central Precocious Puberty(CPP) Patients Treated With Leuprolide Acetate	Unknown status	NCT02974270	Phase 4	Leuprolide
3	An Open Label, Multicenter Study to Assess the Safety and Efficacy of Leuprorelin in the Treatment of Central Precocious Puberty	Completed	NCT02427958	Phase 4	Leuprorelin
4	The Phase 4 Clinical Trial to Evaluate the Efficacy and Safety of Luphere Depot Inj. 3.75mg(Leuprolide Acetate 3.75mg) in Patients With Precocious Puberty; A Single, Open, Multi-center, Prospective Study	Completed	NCT01634321	Phase 4	Luphere depot 3.75mg(Leuprolide acetate 3.75mg)
5	A Multicenter, Open, Prospective Study to Evaluate the Safety and Efficacy of Leuprorelin Acetate DPS (Leuplin DPS) Treatment Quarterly in Patients With Central Precocious Puberty	Completed	NCT03316482	Phase 4	Leuplin DPS 11.25mg
6	Multi-site Study of Comprehensive Treatment for Children Precocious Puberty	Completed	NCT02920515	Phase 4	Triptorlin or Leuprorelin;Zhibo dihuang pills;Dabu ying pills
7	Understanding Experimentally Induced Hot Flushes and Their Impact on Sleep and Mood	Completed	NCT00455689	Phase 4	Leuprolide acetate
8	Evidence-based Medical Research on the Treatment of Children's Rapid Progressive Central Precocious Puberty With Integrative Chinese and Western Medicine	Recruiting	NCT03963752	Phase 4	Ziyinxiehuo Granules Herbs;Megestrol Acetate Tablet;Leuprorelin Acetate 3.75mg Injection
9	Triptorelin Acetate Utilization for the Early Diagnosis of Central Precocious Puberty (CPP) in Girls.	Completed	NCT01278290	Phase 3
10	Phase III, Open-Label Study to Evaluate Efficacy and Safety of Histrelin Subdermal Implant in Children With Central Precocious Puberty	Completed	NCT00779103	Phase 3	Histrelin Subcutaneous Implant
11	A Phase 3, Randomized, Multi-Center, Open-Label Study to Evaluate the Efficacy and Safety of Leuprolide Acetate 11.25 and 30 mg Formulations in Children With Central Precocious Puberty	Completed	NCT00635817	Phase 3	Leuprolide acetate 11.25 mg;Leuprolide acetate 30 mg
12	Study of Lupron Depot In The Treatment of Central Precocious Puberty	Completed	NCT00660010	Phase 3	Lupron (leuprolide acetate)
13	An Open-label, Non-comparative, Multicenter Study on the Efficacy, Safety, and Pharmacokinetics of Triptorelin Pamoate (Embonate) 22.5 mg 6-month Formulation in Patients Suffering From Central (Gonadotropin-dependent) Precocious Puberty	Completed	NCT01467882	Phase 3	Triptorelin
14	Follow-up of the Phase III, Multicentre, Non Comparative, One Single Group, Open Study to Assess the Long-term Efficacy and Tolerability of Pamoate of Triptorelin 11.25 mg in Children With Precocious Puberty	Completed	NCT00909844	Phase 3	Triptorelin (I.N.N.)
15	Phase III, Multicentre, Non-comparative, Open and Single Stage Study to Assess the Efficacy and Safety of Pamoate of Triptorelin 11.25 MG in Children With Precocious Puberty	Completed	NCT00564850	Phase 3	Triptorelin pamoate 11.25mg (Decapeptyl® SR)
16	An Open-label, Single Arm, Multicenter Study on the Efficacy, Safety, and Pharmacokinetics of Leuprolide Acetate 45 mg for Injectable Suspension Controlled Release in Subjects With Central (Gonadotropin-Dependent) Precocious Puberty	Completed	NCT02452931	Phase 3	Leuprolide Acetate 45 mg
17	A 36 Month, Multi-Center, Open-Label Extension Study to Evaluate the Safety of Leuprolide Acetate 11.25 mg and 30 mg Formulations in Children With Central Precocious Puberty	Completed	NCT00667446	Phase 3	Leuprolide Acetate 3 Month Depot
18	A Phase 3, Multicenter, Open-Label, Two-Part Study to Evaluate the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Leuprolide Acetate 45mg 6-Month Depot Formulation in Children With Central Precocious Puberty (CPP)	Active, not recruiting	NCT03695237	Phase 3	Leuprolide Acetate (LA)
19	An Open-label, Multicentre, Single Arm Study to Assess the Efficacy and Safety of Triptorelin 3-month Formulation in Chinese Children With Central Precocious Puberty	Not yet recruiting	NCT04736602	Phase 3	Triptorelin pamoate 15mg
20	An Open-label, Non-comparative, Multi-centre Study to Assess the Efficacy and Safety of Bicalutamide When Used in Combination With Anastrozole for the Treatment of Gonadotropin-independent Precocious Puberty in Boys With Testotoxicosis	Completed	NCT00094328	Phase 2	Bicalutamide;Anastrozole
21	Spironolactone and Testolactone Treatment of Boys With Familial Isosexual Precocious Puberty	Completed	NCT00001202	Phase 2	Spironolactone;Testolactone;Deslorelin
22	Testolactone Treatment of Girls With LHRH Analog-Resistant Precocious Puberty Due to Autonomous, Non-Neoplastic Ovarian Estrogen Secretion	Completed	NCT00001181	Phase 2	Testolactone
23	An Open-label Study Evaluating the Safety and Efficacy of Anastrozole™ (ARIMIDEX) in the Treatment of Precocious Puberty in Girls With McCune-Albright Syndrome	Completed	NCT00055302	Phase 2	Arimidex 1 mg
24	An Open-label, Non-Comparative Trial to Evaluate the Safety, Efficacy and Pharmacokinetics of Faslodex (Fulvestrant) in Girls With Progressive Precocious Puberty Associated With McCune-Albright Syndrome	Active, not recruiting	NCT00278915	Phase 2	Fulvestrant
25	Effects of the Aromatase Inhibitor Letrozole on Pubertal Progression and Indices of Bone Turnover in Girls With Precocious Puberty and McCune-Albright Syndrome (MAS)	Completed	NCT00006174	Phase 1	Letrozole
26	Urinary LH in the Diagnosis of Precocious Puberty	Unknown status	NCT01800565
27	Influence of Early Adiposity Rebound, Genetic Polymorphisms and GnRHa Treatment on Long-term Outcome of Girls With Idiopathic Central Precocious Puberty.	Unknown status	NCT02790112
28	LH Response to GnRH Test in Prepubescent Girls Under 6 Years	Unknown status	NCT01944488		GnRH agonist
29	Follow-up of Girls With Premature Thelarche and Precocious Puberty: a Clinical and Paraclinical Study of Girls With Thelarche and Healthy Controls	Unknown status	NCT01944475
30	Purification of Testis-Stimulating Factor in Precocious Puberty	Completed	NCT00004344		leuprolide;testosterone
31	Study of Gonadotropin-Releasing Hormone Pulse Frequency in Sexual Maturation and in the Menstrual Cycle	Completed	NCT00004335
32	Effect of a GnRH Injection on Ghrelin Concentrations in Girls With Suspected Precocious Puberty	Completed	NCT02431416		Gonadotropin releasing hormone (GnRH);Sodium Chloride
33	Efficacy of Experienced Chinese Herbal Formulas for the Treatment of Different Types of Precocious Puberty: A Single-blinded Randomized Controlled Trial	Completed	NCT02650141		ziyinxiehuo Granules;zishenqinggan Granules
34	The Effect of Medical Clown on the Pain and Anxiety Perception During LRH Analog Treatment or Growth Hormone Provocation Test	Completed	NCT02199587
35	An Observational, Retrospective Study to Evaluate the Long Term Safety and Effectiveness of Leuprorelin in the Treatment of Central Precocious Puberty	Completed	NCT02993926		Enantone;GnRH agonist
36	Polymorphisms in the Kisspeptin/GPR54 Pathway Genes and the Risk of Early Puberty	Completed	NCT04012632
37	Qualitative Assessment of the Psychosocial Impact of Early Puberty in Girls Aged 6 to 8 Years	Completed	NCT01679925
38	Follicle-Stimulating Hormone (FSH) and the Onset of Puberty	Completed	NCT00734279	Early Phase 1	Leuprolide Acetate - Early Puberty Leuprolide Visit;Ganirelix - Early Puberty Ganirelix Visit;Ganirelix - Delayed Puberty Ganirelix Visit;Leuprolide Acetate- Delayed Puberty Leuprolide Visit
39	Polymorphisms in Obesity-related Genes Are Associated With Risk of Early Puberty in Han Chinese Girls	Completed	NCT04317014
40	The Effect of Childhood Overweight and Obesity and Genetic Factors on Puberty Development: a Prospective Cohort Study	Recruiting	NCT04113070
41	Molecular Basis of Inherited Reproductive Disorders	Recruiting	NCT00494169
42	The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate	Recruiting	NCT01601171
43	The Effect of Decaffeinated Green Tea Polyphenol Intake on the Risk of Precocious Puberty Among Obese Girls	Active, not recruiting	NCT03628937
44	Natural History Study of Patients With Excess Androgen	Enrolling by invitation	NCT00250159
45	Effect of Prevalence of Overweight and Obesity(Body Mass Index (BMI)) on Efficacy of Herbal Medicines(ZiYinXieHuo) in Girls' Sexual Precocity	Not yet recruiting	NCT04665713
46	Evaluation of the Correlation Between Psychological Intervention, Including Providing Knowledge and Tools for Problems Solving, and the Anxiety Level of Female Patients Arriving to ACTH LRH Test - Pilot Study	Not yet recruiting	NCT04502836
47	THE EFFICACY OF PREOPERATIVE USAGE OF GONADOTROPINE-RELEASING HORMONE AGONIST IN PATIENTS UNDERGOING TOTAL LAPAROSCOPIC HYSTERECTOMY DUE TO UTERIN FIBROIDS	Not yet recruiting	NCT04192812		PREOPERATİVE GnRHa THERAPY (LEUPROLIDE ACETATE) BEFORE SURGERY FOR UTERİN FIBROIDS;NO GnRHa
48	Markers of Adequate Pubertal Suppression During Supprelin LA Therapy for Central Precocious Puberty	Terminated	NCT02006680
49	A Double Blind Randomized Controlled 12 Month Trial of Metformin for the Treatment of Premature Pubarche in Girls	Terminated	NCT01316042		sugar pill;Metformin, glucophage

Search NIH Clinical Center for Precocious Puberty

Inferred drug relations via UMLS ⁷⁰ / NDF-RT ⁵¹ :

Gonadorelin

Gonadorelin Acetate

Gonadorelin Hydrochloride

Leuprolide

Leuprolide Acetate

Nafarelin

Nafarelin Acetate

Tamoxifen

Tamoxifen Citrate

Sources

Genetic Tests for Precocious Puberty

Genetic tests related to Precocious Puberty:

#	Genetic test	Affiliating Genes
1	Precocious Puberty ²⁹

Sources

Anatomical Context for Precocious Puberty

MalaCards organs/tissues related to Precocious Puberty:

⁴⁰

Pituitary, Ovary, Pineal, Testis, Hypothalamus, Bone, Brain

Sources

Publications for Precocious Puberty

Articles related to Precocious Puberty:

(show top 50) (show all 4310)

#	Title	Authors	PMID	Year
1	Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. ⁵⁴ ⁶¹	Chan YM...Seminara SB	20389100	2010
2	Thyroid autoimmunity and miscarriages: the corpus luteum hypothesis. ⁵⁴ ⁶¹	Toulis KA...Papadimas I	19505771	2009
3	No activating mutations of FSH receptor in four children with ovarian juvenile granulosa cell tumors and the association of these tumors with central precocious puberty. ⁵⁴ ⁶¹	Bas F...Steinmetz R	19539204	2009
4	[Advances on related genes with sexual precocity in mammals]. ⁶¹ ⁵⁴	Chu MX...Zhang YJ	19138897	2009
5	Body mass index and body composition in adolescents treated with gonadotropin-releasing hormone analogue triptorelin depot for central precocious puberty: data at near final height. ⁶¹ ⁵⁴	Chiocca E...Bertelloni S	19176945	2009
6	A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. ⁵⁴ ⁶¹	Loke KY...Lai PS	19339795	2009
7	ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation. ⁶¹ ⁵⁴	Yeste D...Carrascosa A	18414894	2009
8	Subcutaneous gonadotropin-releasing hormone agonist (triptorelin) test for diagnosing precocious puberty. ⁶¹ ⁵⁴	Poomthavorn P...Mahachoklertwattana P	19690429	2009
9	Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty. ⁶¹ ⁵⁴	Eyssette-Guerreau S...Polak M	19209621	2008
10	[Relationship of plasma ghrelin and adenohypophyseal hormone levels in female precocious puberty]. ⁵⁴ ⁶¹	Zhu H...Liang L	18925720	2008
11	A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen. ⁶¹ ⁵⁴	Yesilkaya E...Boyraz M	18300543	2008
12	Diversity of actions of GnRHs mediated by ligand-induced selective signaling. ⁶¹ ⁵⁴	Millar RP...Lu ZL	17976709	2008
13	Predictive factors for organic central precocious puberty and utility of simplified gonadotropin-releasing hormone tests. ⁵⁴ ⁶¹	Choi JH...Yoo HW	18045276	2007
14	Leuprolide acetate: a drug of diverse clinical applications. ⁶¹ ⁵⁴	Wilson AC...Atwood CS	17970643	2007
15	Luteinizing hormone (LH) and estradiol suppression and growth in girls with central precocious puberty: is more suppression better? Are pre-injection LH levels useful in monitoring treatment? ⁶¹ ⁵⁴	Kunz GJ...Klein KO	18183790	2007
16	Early maturation of gonadotropin-releasing hormone secretion and sexual precocity after exposure of infant female rats to estradiol or dichlorodiphenyltrichloroethane. ⁵⁴ ⁶¹	Rasier G...Bourguignon JP	17596564	2007
17	Serum sex hormone-binding globulin levels in healthy children and girls with precocious puberty before and during gonadotropin-releasing hormone agonist treatment. ⁶¹ ⁵⁴	Sorensen K...Juul A	17519314	2007
18	Efficacy of combined treatment with growth hormone and gonadotropin releasing hormone analogue in children with poor prognosis of adult height. ⁵⁴ ⁶¹	Toumba M...Skordis N	17684302	2007
19	Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls. ⁶¹ ⁵⁴	Luan X...Xiao J	17609410	2007
20	Regulation of circulating leptin and its soluble receptor during pubertal development in the male rhesus monkey (Macaca mulatta). ⁶¹ ⁵⁴	Mann DR...Plant TM	17873322	2007
21	Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor. ⁵⁴ ⁶¹	Latronico AC...Segaloff DL	17055147	2007
22	Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. ⁵⁴ ⁶¹	Rey RA...Lumbroso S	17101633	2006
23	Recurrent anaphylaxis associated with gonadotropin-releasing hormone analogs: case report and review of the literature. ⁵⁴ ⁶¹	Lam C...Ahmet AH	17125443	2006
24	A constitutively active mutant of the human lutropin receptor (hLHR-L457R) escapes lysosomal targeting and degradation. ⁶¹ ⁵⁴	Galet C...Ascoli M	16803865	2006
25	A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty. ⁶¹ ⁵⁴	d'Alva CB...Latronico AC	16918965	2006
26	Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. ⁶¹ ⁵⁴	Jeha GS...Karaviti LP	16887451	2006
27	Management of short stature with GnRH agonist and co-treatment with growth hormone: a controversial issue. ⁶¹ ⁵⁴	Carel JC	16787697	2006
28	Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function. ⁵⁴ ⁶¹	Heger S...Sippell WG	16757104	2006
29	Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche. ⁵⁴ ⁶¹	de Vries L...Phillip M	16728550	2006
30	McCune-Albright syndrome: growth hormone and prolactin hypersecretion. ⁵⁴ ⁶¹	Christoforidis A...Stanhope R	16789626	2006
31	Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency. ⁶¹ ⁵⁴	Peter S...Smith T	16921705	2006
32	Gonadotropin-releasing hormone analog therapy for central precocious puberty and other childhood disorders affecting growth and puberty. ⁵⁴ ⁶¹	Lee PA...Houk CP	17002488	2006
33	Control of puberty by excitatory amino acid neurotransmitters and its clinical implications. ⁵⁴ ⁶¹	Parent AS...Bourguignon JP	16388117	2005
34	The histrelin implant: a novel treatment for central precocious puberty. ⁶¹ ⁵⁴	Hirsch HJ...Spitz IM	16322137	2005
35	Prolactin secretion before, during, and after chronic gonadotropin-releasing hormone agonist treatments in children. ⁶¹ ⁵⁴	Massart F...Saggese G	16169408	2005
36	New developments in the use of peptide gonadotropin-releasing hormone antagonists versus agonists. ⁵⁴ ⁶¹	Schultze-Mosgau A...Diedrich K	16144493	2005
37	Leptin changes in Taiwanese girls with central precocious puberty before and during the GnRH agonist treatment. ⁵⁴ ⁶¹	Su PH...Chen SJ	16640001	2005
38	The gonadotrophins response to GnRH test is not a predictor of neurological lesion in girls with central precocious puberty. ⁵⁴ ⁶¹	Ng SM...Didi M	16279361	2005
39	Antagonistic and agonistic GnRH analogue treatment of precocious puberty: tracking gonadotropin concentrations in urine. ⁶¹ ⁵⁴	Roth CL...Hartmann K	15995342	2005
40	Gonadotropin-releasing hormone analogue treatment for precocious puberty. Twenty years of experience. ⁶¹ ⁵⁴	Heger S...Partsch CJ	15722620	2005
41	Non-peptidic GnRH receptor antagonists. ⁵⁴ ⁶¹	Armer RE...Smelt KH	15544487	2004
42	[Simplified gonadorelin stimulation test in diagnosis of precocious puberty]. ⁶¹ ⁵⁴	Jiang YJ...Dong GP	15476332	2004
43	Activating GNAS1 gene mutations in patients with premature thelarche. ⁶¹ ⁵⁴	Roman R...Cassorla F	15289771	2004
44	[Clinical application of simplified gonadotropin releasing hormone stimulating test in management of female isosexual precocious puberty]. ⁵⁴ ⁶¹	Zhang YW...Zhang DY	15312320	2004
45	Aromatase inhibitors in precocious puberty: rationale and experience to date. ⁶¹ ⁵⁴	Eugster EA	16026110	2004
46	Clinical and molecular analysis of human reproductive disorders in Brazilian patients. ⁶¹ ⁵⁴	Latronico AC...Mendonca BB	14689055	2004
47	Lack of efficacy of fadrozole in treating precocious puberty in girls with the McCune-Albright syndrome. ⁵⁴ ⁶¹	Nunez SB...Feuillan PP	14671160	2003
48	Quantitative calcaneal ultrasound parameters and bone mineral density at final height in girls treated with depot gonadotrophin-releasing hormone agonist for central precocious puberty or idiopathic short stature. ⁶¹ ⁵⁴	Kapteijns-van Kordelaar S...van den Bergh J	13680381	2003
49	Serum insulin-like growth factor (IGF)-I and IGF-binding protein-3 in girls with premature thelarche. ⁵⁴ ⁶¹	Sales DS...Martinelli CE	12948294	2003
50	Final adult height in "early normal pubertal girls" treated with gonadotropin releasing hormone agonists. ⁶¹ ⁵⁴	Wacharasindhu S...Yodvisitsak V	12929985	2003

Sources

Genes for Precocious Puberty

Genes related to Precocious Puberty (2 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LOC100507346	Uncharacterized LOC100507346	RNA Gene	406.96	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	PTCH1	Patched 1	Protein Coding	406.96	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	LHCGR	Luteinizing Hormone/Choriogonadotropin Receptor	Protein Coding	48.75	Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9661624 11134146 12408104 (more) 9169417 14671392 12447668 7692306 17055147 12629106 9973550 14689055 8812739 7757065 16887451 12150333 11200941 11106922 9598734 11288780 19209621 9849960 8072545 16918965 10544663 10704433
4	KISS1R	KISS1 Receptor	Protein Coding	37	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
5	MKRN3	Makorin Ring Finger Protein 3	Protein Coding	27.87	GeneCards inferred via : Disorders Publications Variants (show sections)
6	GNAS	GNAS Complex Locus	Protein Coding	25.59	Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	17101633 15289771 19138897
7	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	25.19	Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	9666866 8821907 11926207 (more) 9385370 16921705 1320675 18300543
8	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	19.05	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	12225246 10519330 15476332 (more) 15995342 8088698 8636332 16279361 16757104 8098325 18925720 16388117 16144493 11529380 16787697 1425790 15722620 1712706 12929982 10929361 2138079 8170869 19176945 16728550 17976709 9706454 8989264 7684676 20389100 10592446 18183790 15312320 9625331 9272420 9838241 8632938 8078839 8262471 8370686 1403402 2186053 17002488 12444892 12705366 8038414 11734258 10834524 8629454 13680381 10834520 12145978 10960339 10838724 9790269 9642633 8685017 7735376 2140979 8506834 17596564 17125443 12929985 11528557 11392376 10890201 10730515 18045276 17684302 2123375 7533699 19690429 16322137 15457686
9	STON1-GTF2A1L	STON1-GTF2A1L Readthrough	Protein Coding	16.97	GeneCards inferred via : Publications Variants (show sections)
10	GH1	Growth Hormone 1	Protein Coding	15.81	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	2401720 9568807 16789626 (more) 10702732 1533661 2045470 1909701 10603007 1557221 7559897 1524549 11529405
11	FSHR	Follicle Stimulating Hormone Receptor	Protein Coding	15.33	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	19539204 10685529 9853088 (more) 19138897
12	KISS1	KiSS-1 Metastasis Suppressor	Protein Coding	15.32	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	17609410 20389100 19138897
13	LEPR	Leptin Receptor	Protein Coding	15.16	GeneCards inferred via : Publications Variants (show sections)

Sources

Variations for Precocious Puberty

ClinVar genetic disease variations for Precocious Puberty:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PTCH1 , LOC100507346	NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs)	Deletion	Pathogenic	997831		GRCh37: 9:98229690-98229693 GRCh38: 9:95467408-95467411

Sources

Expression for Precocious Puberty

Search GEO for disease gene expression data for Precocious Puberty.

Sources

Pathways for Precocious Puberty

Pathways related to Precocious Puberty according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Calcium signaling pathway	hsa04020
2	Neuroactive ligand-receptor interaction	hsa04080
3	GnRH signaling pathway	hsa04912

Pathways related to Precocious Puberty according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁵ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁵ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁵ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁵ G alpha (i) signalling events ⁶⁵ GPCR ligand binding ⁶⁵ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁶ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁵ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁵ Vasopressin-like receptors ⁶⁵	12.56	PTCH1 LHCGR LEPR KISS1R KISS1 GNRH1
2	cAMP signaling pathway ³⁶	11.89	PTCH1 LHCGR GNAS FSHR
3	G alpha (s) signalling events ⁶⁵	11.71	LHCGR GNAS FSHR
4	GnRH secretion ³⁶	11.3	KISS1R KISS1 GNRH1
5	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	11.05	PTCH1 GNAS
6	Ovarian steroidogenesis ³⁶	11.04	LHCGR GNAS FSHR
7	Ovarian Infertility Genes ¹	10.94	LHCGR FSHR
8	Transcription_CREM signaling in testis ²³	10.77	GNAS FSHR
9	Hormone ligand-binding receptors ⁶⁵	10.25	LHCGR GNRH1 FSHR

Sources

GO Terms for Precocious Puberty

Biological processes related to Precocious Puberty according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	9.87	PTCH1 LHCGR KISS1R GNRH1 GNAS GH1
2	G protein-coupled receptor signaling pathway	GO:0007186	9.63	LHCGR KISS1R KISS1 GNRH1 GNAS FSHR
3	adenylate cyclase-activating G protein-coupled receptor signaling pathway	GO:0007189	9.54	LHCGR GNAS FSHR
4	energy reserve metabolic process	GO:0006112	9.4	LEPR GNAS
5	negative regulation of multicellular organism growth	GO:0040015	9.26	PTCH1 GNAS
6	ovulation cycle process	GO:0022602	8.96	LHCGR FSHR
7	activation of adenylate cyclase activity	GO:0007190	8.8	LHCGR GNAS FSHR

Molecular functions related to Precocious Puberty according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-hormone receptor activity	GO:0016500	8.96	LHCGR FSHR
2	G protein-coupled peptide receptor activity	GO:0008528	8.8	LHCGR KISS1R FSHR

Sources

Sources for Precocious Puberty

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Precocious Puberty

Aliases & Classifications for Precocious Puberty

MalaCards integrated aliases for Precocious Puberty:

Classifications:

External Ids:

Summaries for Precocious Puberty

Related Diseases for Precocious Puberty

Diseases in the Precocious Puberty family:

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

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

Symptoms & Phenotypes for Precocious Puberty

MGI Mouse Phenotypes related to Precocious Puberty:

Drugs & Therapeutics for Precocious Puberty

Drugs for Precocious Puberty (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Inferred drug relations via UMLS 70 / NDF-RT 51 :

Genetic Tests for Precocious Puberty

Genetic tests related to Precocious Puberty:

Anatomical Context for Precocious Puberty

MalaCards organs/tissues related to Precocious Puberty:

Publications for Precocious Puberty

Articles related to Precocious Puberty:

Genes for Precocious Puberty

Genes related to Precocious Puberty (2 elite genes):

Variations for Precocious Puberty

ClinVar genetic disease variations for Precocious Puberty:

Expression for Precocious Puberty

Pathways for Precocious Puberty

Pathways related to Precocious Puberty according to KEGG:

Pathways related to Precocious Puberty according to GeneCards Suite gene sharing:

GO Terms for Precocious Puberty

Biological processes related to Precocious Puberty according to GeneCards Suite gene sharing:

Molecular functions related to Precocious Puberty according to GeneCards Suite gene sharing:

Sources for Precocious Puberty

Inferred drug relations via UMLS ⁷⁰ / NDF-RT ⁵¹ :