PedAM

Pediatric Disease Annotations & Medicines


	constitutional growth delay

Disease ID	1250
Disease	constitutional growth delay
Definition	The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Synonym	delay in sexual development and/or puberty delay in sexual development and/or puberty (disorder) delay in sexual development and/or puberty (finding) delay puberty delayed pubertal development delayed pubertal growth delayed puberty delayed puberty (& [nos]) delayed puberty (& [nos]) (disorder) delayed puberty (disorder) delayed puberty nos delayed sexual development pubertal delay puberty - delayed puberty delayed puberty, delayed puberty, delayed [disease/finding] sexual development retardation
DOID	DOID:5575
ICD10	ICD10CM:E30.0
UMLS	C0034012
MeSH	D011628
SNOMED-CT	SNOMEDCT_US_2016_09_01:123526007;SNOMEDCT_US_2016_09_01:400003000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0034012 \| delayed puberty \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) LHB \| 3972 \| CTD_human KISS1R \| 84634 \| CTD_human BSCL2 \| 26580 \| CTD_human KISS1 \| 3814 \| CTD_human LEPR \| 3953 \| CTD_human CRH \| 1392 \| CTD_human IGFALS \| 3483 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 389421 \| LIN28B \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1250
Disease	constitutional growth delay
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000823 \| Pubertal delay \| 1

Disease ID	1250
Disease	constitutional growth delay
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:18)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1019731	20734064	3479	IGF1	umls:C0034012	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	IGF1	12	102470647	C	A
rs1073768	20734064	2691	GHRH	umls:C0034012	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
rs1590	20734064	7040	TGFB1	umls:C0034012	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:C0034012	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:C0034012	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	EFR3B	2	25154307	T	C,A
rs2288696	20734064	2260	FGFR1	umls:C0034012	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.005091382	2010	FGFR1	8	38428707	G	A
rs2697679	20734064	4683	NBN	umls:C0034012	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:C0034012	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:C0034012	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:C0034012	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:C0034012	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:C0034012	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.002367032	2010	LHCGR;STON1-GTF2A1L	2	48714289	C	T
rs5930973	20734064	959	CD40LG	umls:C0034012	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:C0034012	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:C0034012	GAD	[A large-scale candidate gene association study of age at menarche and age at natural menopause.]	0.122367032	2010	KISS1	1	204191898	A	G
rs7586601	20734064	8890	EIF2B4	umls:C0034012	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:C0034012	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:C0034012	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.)

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.)

Web
Analytics