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	precocious puberty

Disease ID	214
Disease	precocious puberty
Definition	Development of SEXUAL MATURATION 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. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
Synonym	(sexual precocity nos) or (puberty - precocious) (sexual precocity nos) or (puberty - precocious) (disorder) accelerated sexual maturity early onset of puberty early puberty maturation sex accelerated precocious puberty (disorder) precocious sexual development precocious sexual development (disorder) precocious true puberty premature puberty pubertas praecox puberty - precocious puberty early puberty precocious puberty, precocious puberty, precocious [disease/finding] sexual precocity sexual precocity nos sexual precocity, nos true precocious puberty
Orphanet	ORPHANET:95708
DOID	DOID:14038
ICD10	ICD10CM:E30.1
UMLS	C0034013
MeSH	D011629
SNOMED-CT	SNOMEDCT_US_2016_09_01:123527003;SNOMEDCT_US_2016_09_01:400179000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:36) C0018552 \| hamartoma \| 7 C0342418 \| hypothalamic hamartoma \| 7 C0020676 \| hypothyroidism \| 5 C0028754 \| obesity \| 5 C0029927 \| ovarian cyst \| 3 C0041408 \| turner syndrome \| 3 C0078981 \| arachnoid cyst \| 2 C0206660 \| germinoma \| 2 C0242292 \| albright syndrome \| 2 C0242292 \| mccune-albright syndrome \| 2 C0029927 \| ovarian cysts \| 2 C0041296 \| tuberculosis \| 2 C0022283 \| hypomelanosis of ito \| 1 C0018552 \| hamartomas \| 1 C0235461 \| androgen excess \| 1 C0025149 \| medulloblastoma \| 1 C0022735 \| klinefelter syndrome \| 1 C1275081 \| cardio-facio-cutaneous syndrome \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C0029456 \| osteoporosis \| 1 C0206081 \| hyperandrogenism \| 1 C0033975 \| psychosis \| 1 C0259779 \| fibrous dysplasia \| 1 C0010481 \| cushing's syndrome \| 1 C0001430 \| adenoma \| 1 C0023903 \| hepatic tumor \| 1 C0032460 \| multicystic ovaries \| 1 C0849777 \| cystic ovaries \| 1 C0035372 \| rett syndrome \| 1 C0206661 \| gonadoblastoma \| 1 C0206686 \| adrenocortical carcinoma \| 1 C1378050 \| oncocytoma \| 1 C0085113 \| neurofibromatosis \| 1 C1621895 \| adrenal hyperplasia \| 1 C0206624 \| hepatoblastoma \| 1 C0004352 \| autism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2778 \| GNAS \| CTD_human 3479 \| IGF1 \| CTD_human 5743 \| PTGS2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 155 \| ADRB3 \| CIPHER 1589 \| CYP21A2 \| CIPHER 1576 \| CYP3A4 \| CIPHER 2554 \| GABRA1 \| CIPHER 3284 \| HSD3B2 \| CIPHER 3667 \| IRS1 \| CIPHER 3814 \| KISS1 \| CIPHER 4886 \| NPY1R \| CIPHER 4889 \| NPY5R \| CIPHER 2908 \| NR3C1 \| CIPHER 84634 \| KISS1R \| CIPHER 5743 \| PTGS2 \| CTD_human 3479 \| IGF1 \| CTD_human 2778 \| GNAS \| CTD_human
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	214
Disease	precocious puberty
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:41) HP:0002444 \| Hypothalamic hamartoma \| 9 HP:0010566 \| Hamartoma \| 8 HP:0001513 \| Obesity \| 6 HP:0000821 \| Underactive thyroid \| 5 HP:0000138 \| Ovarian cyst \| 4 HP:0002664 \| Neoplasia \| 3 HP:0000832 \| Primary hypothyroidism \| 3 HP:0002750 \| Delayed bone maturation \| 2 HP:0100620 \| Germinoma \| 2 HP:0010788 \| Testicular neoplasm \| 2 HP:0100702 \| Arachnoid cyst \| 2 HP:0004322 \| Stature below 3rd percentile \| 2 HP:0000089 \| Small kidneys \| 2 HP:0000835 \| Hypoplastic adrenal glands \| 2 HP:0008213 \| Pituitary gonadotropin deficiency \| 1 HP:0001007 \| Hirsutism \| 1 HP:0010796 \| Brainstem glioma \| 1 HP:0000148 \| Vaginal atresia \| 1 HP:0030731 \| Carcinoma \| 1 HP:0006744 \| Adrenal carcinoma \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0000709 \| Psychosis \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0000150 \| Gonadoblastoma \| 1 HP:0000717 \| Autism \| 1 HP:0012489 \| Suprasellar arachnoid cyst \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0010314 \| Premature thelarche \| 1 HP:0012531 \| Pain \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0002884 \| Hepatoblastoma \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0009733 \| Glioma \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0001061 \| Acne \| 1 HP:0000040 \| Long penis \| 1 HP:0000822 \| Hypertension \| 1

Disease ID	214
Disease	precocious puberty
Manually Symptom	UMLS \| Name(Total Manually Symptoms:25) C1519276 \| ovarian sex cord tumor with annular tubules C1512411 \| hepatocellular carcinoma C1415618 \| hypomelanosis of ito C1412004 \| pinealoma C1332881 \| hamartoma of cns C0751230 \| hypothalamic dysfunction C0432474 \| klinefelter's syndrome C0342418 \| hypothalamic hamartoma C0334533 \| arteriovenous malformation C0271561 \| growth hormone deficiency C0267992 \| endogenous obesity C0206663 \| primitive neuroectodermal tumour C0206624 \| hepatoblastoma C0085261 \| proteus syndrome C0078981 \| arachnoid cyst C0039373 \| tay-sachs disease C0035579 \| rickets C0033804 \| pseudohermaphroditism C0031269 \| peutz-jeghers syndrome C0029927 \| ovarian cysts C0022340 \| late infantile neuronal ceroid lipofuscinosis C0020659 \| hypothalamic tumor C0020565 \| macromastia C0007384 \| cataplexy C0006118 \| brain tumors
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0342418 \| hypothalamic hamartoma \| 9 C0078981 \| arachnoid cyst \| 2 C0029927 \| ovarian cysts \| 2 C0206624 \| hepatoblastoma \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1019731	20734064	3479	IGF1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.122367032	2010	IGF1	12	102470647	C	A
rs1073768	20734064	2691	GHRH	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	NA	20	37248607	T	C
rs121912534	9661624	3973	LHCGR	umls:C0034013	BeFree	We also identified the previously described Ala568Val mutation in the third intracellular loop of the LHR in the other affected African-Brazilian boy and his normal prepubertal sister, suggesting the inherited form of precocious puberty in this boy.	0.005624334	1998	LHCGR;STON1-GTF2A1L	2	48688094	G	A
rs121912540	16887451	3973	LHCGR	umls:C0034013	BeFree	Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis.	0.005624334	2006	LHCGR;STON1-GTF2A1L	2	48688106	T	C
rs121913495	17101633	2778	GNAS	umls:C0034013	BeFree	Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.	0.126534468	2006	GNAS	20	58909366	G	A,T
rs1590	20734064	7040	TGFB1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	TGFBR1	9	99153883	T	G
rs2013573	20734064	7363	UGT2B4	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	UGT2B4	4	69488760	C	T
rs2164808	20734064	5443	POMC	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002909916	2010	EFR3B	2	25154307	T	C,A
rs2288696	20734064	2260	FGFR1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	FGFR1	8	38428707	G	A
rs2697679	20734064	4683	NBN	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	NBN	8	89937652	A	C
rs271924	20734064	5122	PCSK1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	PCSK1;LOC101929710	5	96401720	A	T
rs4135280	20734064	5468	PPARG	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	PPARG	3	12407495	T	C
rs4939833	20734064	4092	SMAD7	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	SMAD7	18	48941590	T	C
rs494958	20734064	6715	SRD5A1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	SRD5A1	5	6639066	A	T
rs4953616	20734064	3973	LHCGR	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.005624334	2010	LHCGR;STON1-GTF2A1L	2	48714289	C	T
rs5930973	20734064	959	CD40LG	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	CD40LG	X	136649989	G	A
rs6279	20734064	255239	ANKK1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	DRD2	11	113410351	G	C
rs7538038	20734064	3814	KISS1	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.013006804	2010	KISS1	1	204191898	A	G
rs7586601	20734064	8890	EIF2B4	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	LOC105374363	2	27361799	A	G
rs909253	20734064	7124	TNF	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	LTA;LOC100287329	6	31572536	A	G
rs9457827	20734064	3482	IGF2R	umls:C0034013	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	IGF2R	6	160082624	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	214
Disease	precocious puberty
Case	(Waiting for update.)