Growth Hormone Deficiency malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Growth Hormone Deficiency

Aliases & Descriptions for Growth Hormone Deficiency:

Name: Growth Hormone Deficiency 50 29 52
Isolated Somatotropin Deficiency 69
Somatotropin Deficiency 69


Summaries for Growth Hormone Deficiency

NIH Rare Diseases : 50 growth hormone deficiency (ghd) is characterized by abnormally short height due to lack (or shortage) of growth hormone. it can be congenital (present at birth) or acquired. most cases are identified in children. although it is uncommon, growth hormone deficiency may also be diagnosed in adults. too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults. most of the time, no single clear cause can be identified but several genetic causes of ghd have been described, such as mutations in the to pou1f1/pit1 , prop1 ghrh and gh1 genes. in adolescents, puberty may be delayed or absent. treatment involves growth hormone injections. last updated: 6/3/2016

MalaCards based summary : Growth Hormone Deficiency, also known as isolated somatotropin deficiency, is related to isolated growth hormone deficiency and growth hormone deficiency, isolated, type ia. An important gene associated with Growth Hormone Deficiency is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Peptide ligand-binding receptors and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and testes, and related phenotypes are endocrine/exocrine gland and adipose tissue

Wikipedia : 71 Growth hormone deficiency (GHD) is a medical condition, caused by problems arising in the pituitary... more...

Related Diseases for Growth Hormone Deficiency

Diseases related to Growth Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 266)
id Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 12.6
2 growth hormone deficiency, isolated, type ia 12.4
3 growth hormone deficiency, isolated, type ii 12.4
4 growth hormone deficiency, isolated, type ib 12.4
5 mental retardation, x-linked, with isolated growth hormone deficiency 12.3
6 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.3
7 growth hormone deficiency, isolated partial 12.2
8 agammaglobulinemia and isolated hormone deficiency 12.0
9 isolated growth hormone deficiency, type ib, ghrhr-related 12.0
10 mental retardation, x-linked, with growth hormone deficiency 12.0
11 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.0
12 isolated growth hormone deficiency, ghrh-related 12.0
13 isolated growth hormone deficiency, type ib, gh1-related 11.9
14 septooptic dysplasia 11.7
15 empty sella syndrome 11.2
16 kearns-sayre syndrome 11.1
17 noonan-like syndrome with loose anagen hair 11.1
18 growth hormone insensitivity, partial 10.9
19 hesx1-related combined pituitary hormone deficiency 10.9
20 septo-optic dysplasia spectrum 10.9
21 hypotonia-cystinuria syndrome 10.9
22 growth hormone insensitivity with immunodeficiency 10.8
23 mental retardation, x-linked, syndromic, borck type 10.8
24 culler-jones syndrome 10.8
25 microphthalmia, syndromic 3 10.8
26 insulin-like growth factor i 10.4
27 juvenile myelomonocytic leukemia, somatic nf1-related 10.3 GH1 GHRHR
28 rolandic epilepsy, mental retardation, and speech dyspraxia 10.2 HESX1 SOX3
29 critical congenital heart disease 10.2 GH1 IGF1
30 intermittent squint 10.2 GH1 GHRH
31 glaucoma, hereditary adult type 1a 10.2 GH1 GHRH
32 hypopituitarism 10.2
33 sohval soffer syndrome 10.2 IGF1 IGFBP3
34 seow najjar syndrome 10.2 IGF1 IGFBP3
35 acromegaly 10.2
36 idiopathic hypersomnia without long sleep time 10.1 HESX1 POU1F1
37 cold-induced sweating syndrome 2 10.1 GH1 GHSR IGF1
38 congenital amputation 10.1 HESX1 POU1F1
39 male genital organ stricture 10.1 GH1 IGFBP3
40 osseous heteroplasia, progressive 10.1 GH1 IGF1
41 primary effusion lymphoma 10.1 GH1 IGF1
42 capgras syndrome 10.1 IGF1 IGFBP3
43 diarrhea 3, secretory sodium, congenital, syndromic 10.1 IGF1 IGFBP3
44 turner syndrome 10.1
45 early-onset glaucoma 10.1 HESX1 POU1F1
46 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.1 GH1 IGF1 IGFBP3
47 hypoglycemia 10.1
48 pituitary adenoma, acth-secreting 10.1 IGF1 IGFBP3
49 shaver's disease 10.1 GH1 HESX1 POU1F1
50 brain injury 10.1

Graphical network of the top 20 diseases related to Growth Hormone Deficiency:

Diseases related to Growth Hormone Deficiency

Symptoms & Phenotypes for Growth Hormone Deficiency

MGI Mouse Phenotypes related to Growth Hormone Deficiency:

id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 IGFBP3 POU1F1 SOX3 GHR GHRH GHRHR
2 adipose tissue MP:0005375 9.73 GHR GHRHR GHRL GHSR IGF1 IGFBP3
3 growth/size/body region MP:0005378 9.61 GHR GHRH GHRHR GHSR HESX1 IGF1
4 homeostasis/metabolism MP:0005376 9.28 GHR GHRH GHRHR GHRL GHSR IGF1

Drugs & Therapeutics for Growth Hormone Deficiency

Drugs for Growth Hormone Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 344)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Clonidine Approved Phase 4,Phase 3 4205-90-7 2803
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3 50-28-2 5757 53477783
Selenium Approved, Vet_approved Phase 4 7782-49-2
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 51-43-4 5816
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
Drospirenone Approved Phase 4 67392-87-4 68873
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
Glycerol Approved, Experimental Phase 4 56-81-5 753
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 11103-57-4, 68-26-8 445354
15 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1 67-97-0 6221 10883523 5280795
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-14-6 5280793
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 32222-06-3 134070 5280453
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-30-3 6037
20 vitamin d Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
21 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Estradiol valerate Phase 4,Phase 3 979-32-8
23 Imatinib Mesylate Phase 4 123596
24 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
25 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
26 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Phase 1
29 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3
31 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Phase 1
32 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Contraceptive Agents Phase 4,Phase 3
34 Sympatholytics Phase 4,Phase 3
35 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
36 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Ergocalciferols Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
41 Estradiol 17 beta-cypionate Phase 4,Phase 3
42 Estradiol 3-benzoate Phase 4,Phase 3
43 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
44 Estrogens Phase 4,Phase 2,Phase 3,Early Phase 1
45 Polyestradiol phosphate Phase 4,Phase 3
46 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1
49 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Antihypertensive Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 481)
id Name Status NCT ID Phase
1 Growth Hormone and Brain Functioning After Traumatic Brain Injury Unknown status NCT01699308 Phase 4
2 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
3 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
4 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Unknown status NCT00288873 Phase 4
5 Optimizing Treatment Programs for Chronic Kidney Disease-mineral and Bone Disorder and Malnutrition Unknown status NCT02005302 Phase 4
6 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
7 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
8 Selenium Supplementation in Pregnancy Unknown status NCT01465867 Phase 4
9 An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4
10 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
11 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
12 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
13 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4
14 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
15 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4
16 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4
17 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
18 IGF1 Generation Test Completed NCT00145457 Phase 4
19 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
20 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4
21 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4
22 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
23 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4
24 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4
25 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4
26 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4
27 Easypod United States User Trial Completed NCT00689260 Phase 4
28 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4
29 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Patients Completed NCT00097513 Phase 4
30 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4
31 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
32 Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study) Completed NCT00710307 Phase 4
33 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4
34 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
35 The Effect of Low-Dose Human Growth Hormone Therapy in HIV Infected Patients Completed NCT00119769 Phase 4
36 Induction and Expansion of T Cell Repertoire Using Growth Hormone and Vaccination in HIV-1 Infected Patients Completed NCT00287677 Phase 4
37 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4
38 Clinical, Metabolic and Endocrine Effects of the Treatment With Drospirenone and Ethinyl Estradiol Alone or in Combination With Myo-inositol in Young Women With Polycystic Ovary Syndrome (PCOS) and Insulin Resistance Completed NCT01511822 Phase 4
39 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4
40 Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients Completed NCT00958451 Phase 4
41 How Does Magnesium Status Influence Calcium Homeostasis? Completed NCT01593501 Phase 4
42 Effect of Ferrlecit® Versus Oral Iron on Iron Deficient Chronic Kidney Disease (CKD) Patients Completed NCT00224055 Phase 4
43 Efficacy of Vitamin D2 to Treat Chronic Kidney Disease Mineral and Bone Disorder Completed NCT01633853 Phase 4
44 Efficacy and Safety Study of Fosamax Plus D in Postmenopausal Women With Osteoporosis (0217A-263) Completed NCT00729651 Phase 4
45 Vitamin Deficiency in Immigrants, a Treatment Study Completed NCT01419119 Phase 4
46 Treatment of Vitamin D Insufficiency Completed NCT00933244 Phase 4
47 Immune and Metabolic Effects of Vitamin D Supplementation in Healthy Humans Completed NCT01248442 Phase 4
48 Effect of Omega-3 Fatty Acid on Vitamin D Activation Completed NCT01596842 Phase 4
49 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis Completed NCT03152474 Phase 4
50 A Randomised, Controlled Comparison of Vitamin D Strategies is Acute Hip Fracture Patients Completed NCT00424619 Phase 4

Search NIH Clinical Center for Growth Hormone Deficiency

Genetic Tests for Growth Hormone Deficiency

Genetic tests related to Growth Hormone Deficiency:

id Genetic test Affiliating Genes
1 Growth Hormone Deficiency 29

Anatomical Context for Growth Hormone Deficiency

MalaCards organs/tissues related to Growth Hormone Deficiency:

Bone, Pituitary, Testes, Brain, Thyroid, Endothelial, Skeletal Muscle

Publications for Growth Hormone Deficiency

Articles related to Growth Hormone Deficiency:

(show top 50) (show all 1119)
id Title Authors Year
The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency. ( 28067847 )
Growth-hormone deficiency in mitochondrial disorders. ( 28085676 )
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. ( 28220259 )
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. ( 28052552 )
Growth hormone deficiency in treated acromegaly and active Cushing's syndrome. ( 28477735 )
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. ( 28085675 )
Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. ( 27789066 )
The Relationship Between Gene Polymorphism of Leptin and Leptin Receptor and Growth Hormone Deficiency. ( 26915772 )
Lipid Accumulation Product: a Simple and Accurate Index for Predicting Metabolic Syndrome in Patients with Adult Growth Hormone Deficiency. ( 27123781 )
The visceral adiposity index is associated with insulin sensitivity and IGF-I levels in adults with growth hormone deficiency. ( 27520559 )
Comparison of low-normal and high-normal IGF-1 target levels during growth hormone replacement therapy: A randomized clinical trial in adult growth hormone deficiency. ( 27118206 )
Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth. ( 27513963 )
Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II. ( 27457999 )
Validating Genetic markers of response to recombinant human growth hormone (r-hGH) in children with growth hormone deficiency (GHD) and Turner Syndrome (TS): The PREDICT Validation study. ( 27651465 )
Baseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency. ( 27656208 )
Growth hormone deficiency and hypopituitarism in adults after complicated mild traumatic brain injury. ( 27878771 )
Burden of Growth Hormone Deficiency and Excess in Children. ( 26940390 )
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency. ( 26974134 )
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement. ( 27487097 )
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. ( 27030147 )
Relationship Between 25(OH)D and IGF-I in Children and Adolescents with Growth Hormone Deficiency. ( 26987336 )
Treatment of growth hormone deficiency in children, adolescents and at the transitional age. ( 27974188 )
Growth hormone and the heart in growth hormone deficiency-what have we learned so far? ( 27981513 )
Regulation of fuel metabolism during exercise in hypopituitarism with growth hormone-deficiency (GHD). ( 27084998 )
Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes. ( 26888628 )
Stories of experiences of care for growth hormone deficiency: the CRESCERE project. ( 28031934 )
Challenges in the Diagnosis and Management of Growth Hormone Deficiency in India. ( 27867396 )
Utility of C-peptide for a reliable estimate of insulin secretion in children with growth hormone deficiency. ( 27235725 )
The impact of the d3-growth hormone receptor (d3-GHR) polymorphism on the therapeutic effect of growth hormone replacement in children with idiopathic growth hormone deficiency in Poland. ( 27857044 )
Seven years of follow up of trabecular bone score, bone mineral density, body composition and quality of life in adults with growth hormone deficiency treated with rhGH replacement in a single center. ( 27293538 )
Administration of anti-receptor activator of nuclear factor-kappa B ligand (RANKL) antibody for the treatment of osteoporosis was associated with amelioration of hepatitis in a female patient with growth hormone deficiency: a case report. ( 27881164 )
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. ( 26758488 )
Social, Educational, and Vocational Outcomes in Patients with Childhood Onset and Young Adult Onset Growth Hormone Deficiency. ( 27978600 )
Is insulin-like growth factor-I a good marker for treatment adherence in growth hormone deficiency in adulthood? ( 26824335 )
Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. ( 27114065 )
Diagnosis of growth hormone deficiency in the paediatric and transitional age. ( 27974187 )
Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency. ( 26953707 )
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency. ( 26797872 )
Coexisting Turner's syndrome, Hashimoto's thyroiditis, and growth hormone deficiency. ( 27366729 )
Predictors of Insulin-Like Growth Factor-I Responses to Growth Hormone Replacement in Young Adults with Growth Hormone Deficiency. ( 27173596 )
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. ( 27071470 )
The correlation of leptin/leptin receptor gene polymorphism and insulin-like growth factor-1 and their impact on childhood growth hormone deficiency. ( 27649665 )
Educating children and families about growth hormone deficiency and its management: part 2. ( 26954647 )
Rescue of Isolated Growth Hormone Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. ( 27253996 )
Adherence in children with growth hormone deficiency treated with r-hGH and the easypoda8c device. ( 27406716 )
Concomitant occurrence of Turner syndrome and growth hormone deficiency. ( 28018463 )
Validation of Prediction Models for Near Adult Height in Children with Idiopathic Growth Hormone Deficiency Treated with Growth Hormone: A Belgian Registry Study. ( 27598343 )
Partial loss of function of the GHRH Receptor leads to mild Growth Hormone Deficiency. ( 27501283 )
Growth hormone deficiency during young adulthood and the benefits of growth hormone replacement. ( 27129699 )

Variations for Growth Hormone Deficiency

ClinVar genetic disease variations for Growth Hormone Deficiency:

id Gene Variation Type Significance SNP ID Assembly Location
1 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886041116 GRCh37 Chromosome 20, 49509063: 49509063

Expression for Growth Hormone Deficiency

Search GEO for disease gene expression data for Growth Hormone Deficiency.

Pathways for Growth Hormone Deficiency

Pathways related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
11.59 GH1 GHRL IGF1
4 10.61 GH1 GHR IGF1
5 10.28 IGF1 IGFBP3

GO Terms for Growth Hormone Deficiency

Cellular components related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 GH1 GHR GHRH GHRL IGF1 IGFBP3
2 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
3 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
4 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

Biological processes related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.96 GHRH GHRHR IGF1 POU1F1
2 activation of MAPK activity GO:0000187 9.8 GHR GHRL IGF1
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 GH1 GHR IGF1
4 cellular response to insulin stimulus GO:0032869 9.77 GHR GHRHR GHSR
5 response to hormone GO:0009725 9.73 GHR GHRL GHSR
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 GH1 GHR IGF1
7 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.67 GH1 GHR
8 JAK-STAT cascade GO:0007259 9.67 GH1 GHR
9 pituitary gland development GO:0021983 9.67 HESX1 POU1F1 SOX3
10 negative regulation of insulin secretion GO:0046676 9.66 GHRL GHSR
11 cAMP-mediated signaling GO:0019933 9.66 GHRH GHRHR
12 regulation of multicellular organism growth GO:0040014 9.65 GHR IGF1
13 decidualization GO:0046697 9.65 GHRL GHSR
14 positive regulation of JAK-STAT cascade GO:0046427 9.64 GH1 GHR
15 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.64 GH1 GHR
16 insulin-like growth factor receptor signaling pathway GO:0048009 9.63 GHR IGF1
17 hormone-mediated signaling pathway GO:0009755 9.63 GHR GHRL GHSR
18 actin polymerization or depolymerization GO:0008154 9.62 GHRL GHSR
19 determination of adult lifespan GO:0008340 9.62 GHRHR POU1F1
20 positive regulation of hormone secretion GO:0046887 9.61 GHRH GHRHR
21 adult feeding behavior GO:0008343 9.61 GHRL GHSR
22 response to food GO:0032094 9.61 GHR GHRH GHSR
23 negative regulation of interleukin-1 beta production GO:0032691 9.58 GHRL GHSR
24 growth hormone receptor signaling pathway GO:0060396 9.58 GH1 GHR
25 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.58 GH1 GHR IGF1
26 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.57 GHRL GHSR
27 negative regulation of interleukin-6 biosynthetic process GO:0045409 9.55 GHRL GHSR
28 adenohypophysis development GO:0021984 9.54 GHRH GHRHR POU1F1
29 positive regulation of appetite GO:0032100 9.52 GHRL GHSR
30 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.51 GHRHR GHRL
31 positive regulation of growth hormone secretion GO:0060124 9.5 GHRH GHRHR GHRL
32 positive regulation of multicellular organism growth GO:0040018 9.5 GH1 GHR GHRH GHRHR GHRL GHSR
33 somatotropin secreting cell development GO:0060133 9.48 GHRHR POU1F1
34 growth hormone secretion GO:0030252 9.46 GHRH GHRHR GHRL GHSR
35 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.43 GHRHR IGFBP3 POU1F1
36 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.1 GH1 GHRH GHRHR GHSR IGF1 IGFBP3

Molecular functions related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.43 GH1 GHRL IGF1
2 growth hormone-releasing hormone receptor activity GO:0016520 9.16 GHRHR GHSR
3 growth hormone-releasing hormone activity GO:0016608 8.96 GHRH GHRL
4 peptide hormone binding GO:0017046 8.8 GHR GHRHR GHSR

Sources for Growth Hormone Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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