eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| growth hormone insensitivity syndrome | ||||
| Disease ID | 202 |
|---|---|
| Disease | growth hormone insensitivity syndrome |
| Definition | An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5. |
| Synonym | dwarfism ii, pituitary dwarfism iis, pituitary dwarfism, laron gh resistance, primary growth hormone recept defic growth hormone receptor defect growth hormone receptor deficiency laron dwarfism laron syndrome laron syndrome [disease/finding] laron type dwarfism laron type dwarfism i laron-type dwarfism laron-type isolated somatotropin defect laron-type isolated somatotropin defect (disorder) laron-type pituitary dwarfism pituitary dwarfism ii pituitary dwarfism iis primary gh resistance primary growth hormone resistance severe gh insensitivity syndrome, laron |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0271568 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0035309 | retinopathy | 1 C0011849 | diabetes mellitus | 1 C0020456 | hyperglycemia | 1 C0011847 | diabetes | 1 C0011884 | diabetic retinopathy | 1 |
| 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:11) 26586 | CKAP2 | 4.029 | DISEASES 80712 | ESX1 | 1.65 | DISEASES 3481 | IGF2 | 1.89 | DISEASES 3483 | IGFALS | 2.462 | DISEASES 3486 | IGFBP3 | 4.902 | DISEASES 8022 | LHX3 | 1.853 | DISEASES 5449 | POU1F1 | 2.664 | DISEASES 404552 | SCGB1D4 | 1.622 | DISEASES 6776 | STAT5A | 1.757 | DISEASES 7156 | TOP3A | 1.425 | DISEASES 389136 | VGLL3 | 3.176 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 202 |
|---|---|
| Disease | growth hormone insensitivity syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0000239 | Large fontanelles HP:0004322 | Short stature HP:0000873 | Diabetes insipidus HP:0002213 | Fine hair HP:0000365 | Hearing impairment HP:0003124 | Hypercholesterolemia HP:0000592 | Bluish sclerae HP:0003026 | shortened long tubular bones HP:0000232 | Everted lower lip vermilion HP:0000135 | Hypogonadism HP:0008736 | Hypoplasia of penis HP:0001939 | Laboratory abnormality HP:0000855 | Insulin resistance HP:0012569 | Delayed menarche HP:0000684 | Delayed eruption of teeth HP:0001943 | Hypoglycemia HP:0003510 | Proportionate dwarfism HP:0000924 | Abnormality of the skeletal system HP:0005978 | Type II diabetes mellitus HP:0000153 | Abnormality of the mouth HP:0000252 | Microcephaly HP:0002750 | Delayed bone maturation HP:0001999 | Abnormal facial shape HP:0001508 | Failure to thrive HP:0001249 | Intellectual disability HP:0001597 | Abnormality of the nail HP:0002721 | Immunodeficiency HP:0002750 | Delayed skeletal maturation HP:0000819 | Diabetes mellitus HP:0001956 | Truncal obesity HP:0001620 | High pitched voice HP:0000274 | Hypoplasia of face HP:0001367 | Anomaly of the joints |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) |
| Disease ID | 202 |
|---|---|
| Disease | growth hormone insensitivity syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| GHR | Hom del exon 7–10 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909357 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42694991 | T | C |
| rs121909358 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42688934 | C | G,T |
| rs121909359 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42688921 | C | A |
| rs121909360 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42699978 | A | G |
| rs121909362 | 7565946 | 2690 | GHR | umls:C0271568 | UNIPROT | Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. | 0.591798425 | 1995 | GHR | 5 | 42699919 | C | T |
| rs121909362 | 17462934 | 2690 | GHR | umls:C0271568 | BeFree | The formerly in patients with Laron syndrome and idiopathic short stature reported mutation R179C leads to an amino acid change from an arginine residue (codon CGC) to a cysteine residue (codon TGC) in position 179 of the extracellular domain of the GHR. | 0.591798425 | 2007 | GHR | 5 | 42699919 | C | T |
| rs121909363 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42711291 | C | T |
| rs121909366 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42699892 | G | C |
| rs121909367 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42699896 | T | C |
| rs121909368 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42699899 | A | C |
| rs121909369 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42699902 | T | G |
| rs121909370 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42629069 | G | A |
| rs121909371 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42694953 | C | A |
| rs121909372 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42694985 | G | C |
| rs121909373 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42699888 | T | C,G |
| rs6182 | 10391209 | 2690 | GHR | umls:C0271568 | UNIPROT | Characterization of single-nucleotide polymorphisms in coding regions of human genes. | 0.591798425 | 1999 | GHR | 5 | 42718826 | G | T |
| rs730880281 | NA | 2690 | GHR | umls:C0271568 | CLINVAR | NA | 0.591798425 | NA | GHR | 5 | 42711206 | 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:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001367 | Abnormal joint morphology | MP:0002932 | abnormal joint morphology | any structural anomaly of the moveable articulation point of two or more bones |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0001956 | Truncal obesity | MP:0005659 | decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000153 | Abnormality of the mouth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0003026 | Short long bone | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0000924 | Abnormality of the skeletal system | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0000684 | Delayed eruption of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001367 | Abnormal joint morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0000592 | Blue sclerae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001620 | High pitched voice | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000873 | Diabetes insipidus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003026 | Short long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000274 | Small face | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000855 | Insulin resistance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003510 | Severe short stature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000924 | Abnormality of the skeletal system | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0012569 | Delayed menarche | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0001956 | Truncal obesity | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000153 | Abnormality of the mouth | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0008736 | Hypoplasia of penis | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003124 | Hypercholesterolemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 202 |
|---|---|
| Disease | growth hormone insensitivity syndrome |
| Case | (Waiting for update.) |