PedAM

Pediatric Disease Annotations & Medicines


	isolated growth hormone deficiency

Disease ID	878
Disease	isolated growth hormone deficiency
Definition	A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.
Synonym	dwarfism growth hormone defic dwarfism pituitary dwarfism, growth hormone deficiency dwarfism, pituitary dwarfism, pituitary [disease/finding] dwarfism: [pituitary] or [hypophyseal (& lorain-levi)] dwarfism: [pituitary] or [hypophyseal (& lorain-levi)] (disorder) dwarfs pituitary growth hormone defic dwarfism growth hormone deficiency dwarfism hypophyseal dwarf hypophyseal dwarfism hypopituitary dwarfism hyposomatotrophic dwarfism hyposomatotropic dwarfism isolated deficiency of growth hormone isolated deficiency of growth hormone in children isolated deficiency of hgh isolated deficiency of human growth hormone isolated gh deficiency isolated hgh deficiency isolated human growth hormone deficiency isolated somatotropin deficiency isolated somatotropin deficiency disorder lorain - levi dwarfism lorain-levi dwarfism nanism, pituitary pituitary dwarf pituitary dwarfism pituitary dwarfism (disorder) pituitary dwarfism (disorder) [ambiguous] pituitary dwarfism nos pituitary dwarfism nos (disorder) pituitary nanism prepuberal dwarfism prepubertal dwarfism
DOID	DOID:9405
UMLS	C0013338
MeSH	D004393
SNOMED-CT	SNOMEDCT_US_2016_09_01:367460001
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) POU1F1 \| 5449 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1277 \| COL1A1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:131) 2273 \| FHL1 \| DISEASES 990 \| CDC6 \| DISEASES 23594 \| ORC6 \| DISEASES 3982 \| LIM2 \| DISEASES 5864 \| RAB3A \| DISEASES 3199 \| HOXA2 \| DISEASES 9570 \| GOSR2 \| DISEASES 2798 \| GNRHR \| DISEASES 1075 \| CTSC \| DISEASES 57379 \| AICDA \| DISEASES 51053 \| GMNN \| DISEASES 2690 \| GHR \| DISEASES 2691 \| GHRH \| DISEASES 9419 \| CRIPT \| DISEASES 2693 \| GHSR \| DISEASES 4189 \| DNAJB9 \| DISEASES 3630 \| INS \| DISEASES 1911 \| PHC1 \| DISEASES 25914 \| RTTN \| DISEASES 7252 \| TSHB \| DISEASES 10643 \| IGF2BP3 \| DISEASES 6426 \| SRSF1 \| DISEASES 640 \| BLK \| DISEASES 81873 \| ARPC5L \| DISEASES 9894 \| TELO2 \| DISEASES 9789 \| SPCS2 \| DISEASES 89884 \| LHX4 \| DISEASES 5000 \| ORC4 \| DISEASES 7840 \| ALMS1 \| DISEASES 5443 \| POMC \| DISEASES 1062 \| CENPE \| DISEASES 5307 \| PITX1 \| DISEASES 7472 \| WNT2 \| DISEASES 1021 \| CDK6 \| DISEASES 10733 \| PLK4 \| DISEASES 4594 \| MUT \| DISEASES 286053 \| NSMCE2 \| DISEASES 6750 \| SST \| DISEASES 8820 \| HESX1 \| DISEASES 25886 \| POC1A \| DISEASES 10085 \| EDIL3 \| DISEASES 83550 \| GPR101 \| DISEASES 5896 \| RAG1 \| DISEASES 7184 \| HSP90B1 \| DISEASES 4837 \| NNMT \| DISEASES 915 \| CD3D \| DISEASES 81620 \| CDT1 \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 64852 \| TUT1 \| DISEASES 695 \| BTK \| DISEASES 23592 \| LEMD3 \| DISEASES 2001 \| ELF5 \| DISEASES 2000 \| ELF4 \| DISEASES 5626 \| PROP1 \| DISEASES 2688 \| GH1 \| DISEASES 51574 \| LARP7 \| DISEASES 4234 \| METTL1 \| DISEASES 8239 \| USP9X \| DISEASES 64755 \| C16orf58 \| DISEASES 2692 \| GHRHR \| DISEASES 1879 \| EBF1 \| DISEASES 84126 \| ATRIP \| DISEASES 63925 \| ZNF335 \| DISEASES 10293 \| TRAIP \| DISEASES 10785 \| WDR4 \| DISEASES 3543 \| IGLL1 \| DISEASES 6906 \| SERPINA7 \| DISEASES 2558 \| GABRA5 \| DISEASES 80254 \| CEP63 \| DISEASES 7225 \| TRPC6 \| DISEASES 7518 \| XRCC4 \| DISEASES 5449 \| POU1F1 \| DISEASES 545 \| ATR \| DISEASES 55755 \| CDK5RAP2 \| DISEASES 5015 \| OTX2 \| DISEASES 766 \| CA7 \| DISEASES 54820 \| NDE1 \| DISEASES 57596 \| BEGAIN \| DISEASES 26503 \| SLC17A5 \| DISEASES 91687 \| CENPL \| DISEASES 3981 \| LIG4 \| DISEASES 5079 \| PAX5 \| DISEASES 26052 \| DNM3 \| DISEASES 157680 \| VPS13B \| DISEASES 5116 \| PCNT \| DISEASES 1999 \| ELF3 \| DISEASES 2736 \| GLI2 \| DISEASES 23137 \| SMC5 \| DISEASES 24149 \| ZNF318 \| DISEASES 1063 \| CENPF \| DISEASES 632 \| BGLAP \| DISEASES 6658 \| SOX3 \| DISEASES 959 \| CD40LG \| DISEASES 4998 \| ORC1 \| DISEASES 8022 \| LHX3 \| DISEASES 57169 \| ZNFX1 \| DISEASES 55661 \| DDX27 \| DISEASES 80712 \| ESX1 \| DISEASES 9358 \| ITGBL1 \| DISEASES 765 \| CA6 \| DISEASES 79823 \| CAMKMT \| DISEASES 5080 \| PAX6 \| DISEASES 10300 \| KATNB1 \| DISEASES 551 \| AVP \| DISEASES 54875 \| CNTLN \| DISEASES 3486 \| IGFBP3 \| DISEASES 55835 \| CENPJ \| DISEASES 51199 \| NIN \| DISEASES 80757 \| TMEM121 \| DISEASES 23365 \| ARHGEF12 \| DISEASES 1763 \| DNA2 \| DISEASES 22995 \| CEP152 \| DISEASES 8091 \| HMGA2 \| DISEASES 284403 \| WDR62 \| DISEASES 7441 \| VPREB1 \| DISEASES 11277 \| TREX1 \| DISEASES 55599 \| RNPC3 \| DISEASES 3481 \| IGF2 \| DISEASES 3833 \| KIFC1 \| DISEASES 8318 \| CDC45 \| DISEASES 64283 \| ARHGEF28 \| DISEASES 3483 \| IGFALS \| DISEASES 60559 \| SPCS3 \| DISEASES 100423062 \| IGLL5 \| DISEASES 917 \| CD3G \| DISEASES 9820 \| CUL7 \| DISEASES 27164 \| SALL3 \| DISEASES 64426 \| SUDS3 \| DISEASES 100151683 \| RNU4ATAC \| DISEASES 692057 \| SNORD12 \| DISEASES
Locus	(Waiting for update.)

Disease ID	878
Disease	isolated growth hormone deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	878
Disease	isolated growth hormone deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0549307 \| morning glory syndrome C0265232 \| median cleft face syndrome C0013338 \| pituitary dwarfism C0013336 \| dwarfism
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
rs121918117	23436191	2692	GHRHR	umls:C0013338	BeFree	Twenty one of the 23 FIGHD had homozygous GHRHR(E72X) mutation and four with IGHD had heterozygous GHRHR(E72X) mutation.	0.088143256	2013	GHRHR	7	30969116	G	T
rs121918117	23436191	2692	GHRHR	umls:C3714796	BeFree	Twenty one of the 23 FIGHD had homozygous GHRHR(E72X) mutation and four with IGHD had heterozygous GHRHR(E72X) mutation.	0.004885954	2013	GHRHR	7	30969116	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.)

Web
Analytics