PedAM

Pediatric Disease Annotations & Medicines


	central precocious puberty

Disease ID	983
Disease	central precocious puberty
Definition	Premature onset of sexual development triggered by the premature secretion of gonadotropins.(NICHD)
Synonym	central precocious puberty (disorder) gonadotropin-dependent precocious puberty precocious puberty, central
Orphanet	ORPHANET:759
UMLS	C0342543
SNOMED-CT	SNOMEDCT_US_2016_09_01:237816004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0342418 \| hypothalamic hamartoma \| 3 C0018552 \| hamartoma \| 3 C0041296 \| tuberculosis \| 2 C0242292 \| mccune-albright syndrome \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C0022735 \| klinefelter syndrome \| 1 C0206620 \| hygroma \| 1 C0034013 \| precocious puberty \| 1 C1621895 \| adrenal hyperplasia \| 1 C0242292 \| albright syndrome \| 1 C0025149 \| medulloblastoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) KISS1R \| 84634 \| CLINVAR;CTD_human MKRN3 \| 7681 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	983
Disease	central precocious puberty
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:19) HP:0008232 \| Elevated follicle-stimulating hormone HP:0001513 \| Obesity HP:0011969 \| Elevated luteinizing hormone HP:0000821 \| Underactive thyroid HP:0001548 \| Overgrowth HP:0002805 \| Accelerated bone age after puberty HP:0009888 \| Abnormality of secondary sexual hair HP:0004322 \| Stature below 3rd percentile HP:0000957 \| Cafe-au-lait spot HP:0001287 \| Meningitis HP:0002686 \| Prenatal maternal abnormality HP:0000837 \| Increased circulating gonadotropin level HP:0008236 \| Isosexual precocious puberty HP:0010314 \| Premature thelarche HP:0001061 \| Acne HP:0002444 \| Hypothalamic hamartoma HP:0000238 \| Hydrocephalus HP:0004324 \| Increased body weight HP:0003508 \| Proportionate short stature
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0010566 \| Hamartoma \| 3 HP:0002444 \| Hypothalamic hamartoma \| 3 HP:0000089 \| Small kidneys \| 1 HP:0000826 \| Precocious puberty \| 1 HP:0000148 \| Vaginal atresia \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0008185 \| Early onset of puberty in males \| 1 HP:0002885 \| Medulloblastoma \| 1

Disease ID	983
Disease	central precocious puberty
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0016429 \| ovarian follicular cyst
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908499	NA	84634	KISS1R	umls:C0342543	CLINVAR	NA	0.241628651	NA	KISS1R	19	920708	G	C
rs192636495	20631455	3814	KISS1	umls:C0342543	BeFree	KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.	0.001628651	2010	KISS1	1	204190573	G	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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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