eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| isolated growth hormone deficiency | ||||
| Disease ID | 1138 |
|---|---|
| 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 | |
| UMLS | C0013338 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:70) 23365 | ARHGEF12 | 1.238 | DISEASES 64283 | ARHGEF28 | 1.764 | DISEASES 545 | ATR | 2.559 | DISEASES 84126 | ATRIP | 2.172 | DISEASES 551 | AVP | 1.368 | DISEASES 57596 | BEGAIN | 3.099 | DISEASES 632 | BGLAP | 1.465 | DISEASES 765 | CA6 | 1.113 | DISEASES 766 | CA7 | 1.085 | DISEASES 79823 | CAMKMT | 1.597 | DISEASES 917 | CD3G | 1.57 | DISEASES 959 | CD40LG | 1.957 | DISEASES 8318 | CDC45 | 1.931 | DISEASES 55755 | CDK5RAP2 | 2.436 | DISEASES 1063 | CENPF | 1.436 | DISEASES 55835 | CENPJ | 2.138 | DISEASES 91687 | CENPL | 3.181 | DISEASES 22995 | CEP152 | 2.563 | DISEASES 80254 | CEP63 | 2.988 | DISEASES 54875 | CNTLN | 3.918 | DISEASES 9820 | CUL7 | 2.077 | DISEASES 55661 | DDX27 | 1.921 | DISEASES 1763 | DNA2 | 1.685 | DISEASES 26052 | DNM3 | 2.079 | DISEASES 1879 | EBF1 | 1.056 | DISEASES 1999 | ELF3 | 1.283 | DISEASES 80712 | ESX1 | 5.533 | DISEASES 2558 | GABRA5 | 1.866 | DISEASES 2736 | GLI2 | 3.332 | DISEASES 8091 | HMGA2 | 1.122 | DISEASES 3481 | IGF2 | 2.363 | DISEASES 3483 | IGFALS | 2.007 | DISEASES 3486 | IGFBP3 | 3.41 | DISEASES 3543 | IGLL1 | 1.98 | DISEASES 100423062 | IGLL5 | 3.306 | DISEASES 9358 | ITGBL1 | 1.428 | DISEASES 10300 | KATNB1 | 3.757 | DISEASES 3833 | KIFC1 | 1.884 | DISEASES 8022 | LHX3 | 4.897 | DISEASES 3981 | LIG4 | 1.758 | DISEASES 54820 | NDE1 | 2.684 | DISEASES 51199 | NIN | 1.559 | DISEASES 4998 | ORC1 | 3.084 | DISEASES 5015 | OTX2 | 3.803 | DISEASES 5079 | PAX5 | 1.294 | DISEASES 5080 | PAX6 | 1.166 | DISEASES 5116 | PCNT | 5.237 | DISEASES 5449 | POU1F1 | 5.375 | DISEASES 55599 | RNPC3 | 3.893 | DISEASES 100151683 | RNU4ATAC | 4.822 | DISEASES 27164 | SALL3 | 2.582 | DISEASES 6906 | SERPINA7 | 1.583 | DISEASES 26503 | SLC17A5 | 2.403 | DISEASES 23137 | SMC5 | 2.57 | DISEASES 692057 | SNORD12 | 2.202 | DISEASES 6658 | SOX3 | 4.336 | DISEASES 60559 | SPCS3 | 4.06 | DISEASES 64426 | SUDS3 | 2.17 | DISEASES 80757 | TMEM121 | 4.134 | DISEASES 10293 | TRAIP | 4.578 | DISEASES 11277 | TREX1 | 1.049 | DISEASES 7225 | TRPC6 | 1.905 | DISEASES 7441 | VPREB1 | 1.179 | DISEASES 157680 | VPS13B | 1.135 | DISEASES 10785 | WDR4 | 4.055 | DISEASES 284403 | WDR62 | 2.049 | DISEASES 7518 | XRCC4 | 3.231 | DISEASES 24149 | ZNF318 | 3.262 | DISEASES 63925 | ZNF335 | 2.877 | DISEASES 57169 | ZNFX1 | 2.402 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1138 |
|---|---|
| Disease | isolated growth hormone deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1138 |
|---|---|
| Disease | isolated growth hormone deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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.) |
| Disease ID | 1138 |
|---|---|
| Disease | isolated growth hormone deficiency |
| Case | (Waiting for update.) |