MCID: GRW007
MIFTS: 52

Growth Hormone Deficiency

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Growth Hormone Deficiency

MalaCards integrated aliases for Growth Hormone Deficiency:

Name: Growth Hormone Deficiency 49 36 28 51
Isolated Somatotropin Deficiency 69
Somatotropin Deficiency 69

Classifications:



External Ids:

KEGG 36 H00254

Summaries for Growth Hormone Deficiency

NIH Rare Diseases : 49 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, type iii and isolated growth hormone deficiency, type ii. An important gene associated with Growth Hormone Deficiency is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Peptide hormone metabolism and G-protein signaling_Rap2B regulation pathway. The drugs insulin and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and pituitary, and related phenotypes are endocrine/exocrine gland and adipose tissue

Wikipedia : 72 Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH). Generally... 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 309)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type iii 34.2 BTK HESX1 SOX3
2 isolated growth hormone deficiency, type ii 33.4 GH1 GHRH GHRHR HESX1 IGF1
3 isolated growth hormone deficiency, type ib 33.0 GH1 GHRH GHRHR IGF1 IGFBP3
4 septooptic dysplasia 32.7 HESX1 PROP1 SOX3
5 isolated growth hormone deficiency 31.6 BTK GH1 GHRH GHRHR HESX1 IGF1
6 dwarfism 30.1 GH1 GHRH GHRHR
7 pseudohypoparathyroidism, type ia 30.1 GH1 IGF1
8 turner syndrome 30.1 GH1 IGF1 IGFBP3
9 insulin-like growth factor i 29.9 GH1 GHRH IGF1 IGFBP3
10 pituitary hypoplasia 29.9 GHRHR HESX1 SOX3
11 pituitary adenoma, prolactin-secreting 29.8 GH1 GHSR IGF1
12 hyperprolactinemia 29.7 GH1 GHRH IGF1
13 pituitary adenoma 29.7 GH1 GHRH IGF1
14 pituitary stalk interruption syndrome 29.6 GH1 GHRHR HESX1 SOX3
15 laron syndrome 29.6 GH1 IGF1 IGFBP3
16 combined pituitary hormone deficiency 29.6 HESX1 PROP1
17 slipped capital femoral epiphysis 29.5 IGF1 IGFBP3
18 prader-willi syndrome 29.2 GH1 GHRL IGF1 IGFBP3
19 acromegaly 29.1 GH1 GHRH GHRL IGF1 IGFBP3
20 pituitary tumors 29.0 GH1 IGF1 PROP1
21 craniopharyngioma 28.9 GHRL IGF1 PROP1
22 pituitary hormone deficiency, combined, 2 28.9 GH1 HESX1 IGF1 PROP1 SOX3
23 bulimia nervosa 2 28.8 GH1 GHRH GHRL IGF1
24 body mass index quantitative trait locus 11 28.5 GH1 GHRH GHRL GHSR IGF1 IGFBP3
25 hypopituitarism 28.1 GH1 GHRH HESX1 IGF1 IGFBP3 PROP1
26 isolated growth hormone deficiency, type ia 12.7
27 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.4
28 growth hormone deficiency, isolated partial 12.3
29 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.1
30 mental retardation, x-linked, with panhypopituitarism 11.9
31 stratton-parker syndrome 11.4
32 growth hormone insensitivity, partial 11.4
33 septo-optic dysplasia spectrum 11.4
34 empty sella syndrome 11.3
35 noonan syndrome-like disorder with loose anagen hair 1 11.2
36 hypotonia-cystinuria syndrome 11.0
37 pallister-hall syndrome 10.8
38 microphthalmia, syndromic 3 10.8
39 ritscher-schinzel syndrome 1 10.8
40 growth hormone insensitivity with immunodeficiency 10.8
41 mehmo syndrome 10.8
42 culler-jones syndrome 10.8
43 growth hormone secreting pituitary adenoma 10.3 GHRHR GHSR
44 aging 10.3
45 central nervous system organ benign neoplasm 10.3 HESX1 IGF1
46 hypothalamic disease 10.2 GH1 GHRH
47 gigantism 10.2 GH1 GHRH
48 marasmus 10.2 GH1 IGFBP3
49 hypoglycemia 10.1
50 blood group, i system 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 IGF1 IGFBP3 PROP1 SOX3 GHRH GHRHR
2 adipose tissue MP:0005375 9.65 IGF1 IGFBP3 GHRHR GHRL GHSR
3 growth/size/body region MP:0005378 9.61 HESX1 IGF1 IGFBP3 PROP1 BTK SOX3
4 homeostasis/metabolism MP:0005376 9.28 IGF1 IGFBP3 PROP1 BTK SOX3 GHRH

Drugs & Therapeutics for Growth Hormone Deficiency

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

(show top 50) (show all 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
2 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
3 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
6 Imatinib Mesylate Phase 4 123596
7 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1
9 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
10
Zinc Approved, Investigational Phase 3,Early Phase 1 7440-66-6 32051 23994
11
Clonidine Approved Phase 3 4205-90-7 2803
12
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
13
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
14
Vinblastine Approved Phase 2, Phase 3 865-21-4 241903 13342
15
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
16
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
17
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
18
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
19
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
20
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
21
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
22
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
23 tannic acid Approved, Nutraceutical Phase 3,Phase 2
24
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
26 Hypoglycemic Agents Phase 3,Early Phase 1
27 Anti-Inflammatory Agents Phase 2, Phase 3,Early Phase 1
28 Liver Extracts Phase 3
29 Analgesics Phase 3,Phase 2
30 Adrenergic Agents Phase 3,Phase 2
31 Adrenergic Agonists Phase 3
32 Adrenergic alpha-2 Receptor Agonists Phase 3
33 Adrenergic alpha-Agonists Phase 3
34 Steroid Synthesis Inhibitors Phase 2, Phase 3
35 Sympatholytics Phase 3
36 Neurotransmitter Agents Phase 3,Phase 2
37 Analgesics, Non-Narcotic Phase 2, Phase 3
38 Peripheral Nervous System Agents Phase 3,Phase 2
39 Estrogen Antagonists Phase 2, Phase 3
40 Estrogens Phase 3,Phase 2
41 Immunoglobulins Phase 3,Phase 2
42 Antihypertensive Agents Phase 3
43 Antineoplastic Agents, Hormonal Phase 2, Phase 3, Phase 1
44 Antibodies Phase 3,Phase 2
45 Aromatase Inhibitors Phase 2, Phase 3
46 Autonomic Agents Phase 3
47 Prednisolone acetate Phase 2, Phase 3
48 glucocorticoids Phase 2, Phase 3
49 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
50 6-Mercaptopurine Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 251)

# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
2 Growth Hormone and Brain Functioning After Traumatic Brain Injury Unknown status NCT01699308 Phase 4 Genotropin (somatropin)
3 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
4 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 Saizen® solution for injection (referred as Saizen®)
5 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
6 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
7 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Completed NCT02311894 Phase 4 Somatropin
8 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
9 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
10 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
11 IGF1 Generation Test Completed NCT00145457 Phase 4
12 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
13 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Human Growth Hormone;Placebo
14 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
15 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
16 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
17 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
18 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
19 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
20 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
21 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
22 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 r-hGH;r-hGH
23 Easypod United States User Trial Completed NCT00689260 Phase 4
24 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
25 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Patients Completed NCT00097513 Phase 4
26 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
27 Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study) Completed NCT00710307 Phase 4
28 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
29 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4 growth hormone
30 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
31 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
32 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
33 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
34 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
35 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
36 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
37 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
38 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
39 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
40 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
41 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
42 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
43 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
44 Extension Study on Safety of Long-Term Growth Hormone Replacement in Adult Patients With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
45 Treatment of Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
46 Evaluation of Efficacy and Safety of Recombinant Somatroipn in Patients With Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
47 Treatment of Adults With Growth Hormone Deficiency Completed NCT00294619 Phase 3 growth hormone
48 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
49 Comparing Efficacy and Safety of CinnaGen Biosimilar Growth Hormone (CinnaTropin®) Versus Nordilet in Children With Idiopathic Growth Hormone Deficiency Completed NCT03223025 Phase 3 CinnaTropin®;Nordilet®
50 Cool.Click™ Adolescent Transition Study: Study of Saizen® in Subjects With Childhood-onset Growth Hormone Deficiency Completed NCT00109733 Phase 3

Search NIH Clinical Center for Growth Hormone Deficiency

Genetic Tests for Growth Hormone Deficiency

Genetic tests related to Growth Hormone Deficiency:

# Genetic test Affiliating Genes
1 Growth Hormone Deficiency 28

Anatomical Context for Growth Hormone Deficiency

MalaCards organs/tissues related to Growth Hormone Deficiency:

38
Bone, Testes, Pituitary, Brain, Heart, Liver, Endothelial

Publications for Growth Hormone Deficiency

Articles related to Growth Hormone Deficiency:

(show top 50) (show all 1167)
# Title Authors Year
1
Oxidative stress in adult growth hormone deficiency: different plasma antioxidant patterns in comparison with metabolic syndrome. ( 29143180 )
2018
2
Treatment of adult growth hormone deficiency with human recombinant growth hormone: an update on current evidence and critical review of advantages and pitfalls. ( 29417370 )
2018
3
LIPID ACCUMULATION PRODUCT, VISCERAL ADIPOSITY INDEX, AND CHINESE VISCERAL ADIPOSITY INDEX AS MARKERS OF CARDIOMETABOLIC RISK IN ADULT GROWTH HORMONE DEFICIENCY PATIENTS: A CROSS-SECTIONAL STUDY. ( 29144802 )
2018
4
Design of the Growth hormone deficiency and Efficacy of Treatment (GET) score and non-interventional proof of concept study. ( 29433573 )
2018
5
Effect of recombinant human growth hormone therapy on blood lipid and carotid intima-media thickness in children with growth hormone deficiency. ( 29206809 )
2018
6
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. ( 29255062 )
2018
7
Letter to 'Late pubertal growth spurt in a girl with growth hormone deficiency: Is Kaufmann therapy effective in a girl with short stature who responds poorly to growth hormone therapy and estrogen replacement therapy?' ( 29442410 )
2018
8
Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection. ( 29317355 )
2018
9
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report. ( 29443755 )
2018
10
Vitamin D in children with growth hormone deficiency due to pituitary stalk interruption syndrome. ( 29368588 )
2018
11
Childhood-Onset Adult Growth Hormone Deficiency: Clinical, Hormonal, and Radiological Assessment in a Single Center in China. ( 28719905 )
2017
12
A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency. ( 28586151 )
2017
13
A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion. ( 29228534 )
2017
14
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. ( 29221463 )
2017
15
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ( 29147571 )
2017
16
Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect on retina. ( 29082892 )
2017
17
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
18
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
19
Hearing loss in children with growth hormone deficiency. ( 28802353 )
2017
20
Assessment of quality of life on 4-year growth hormone therapy in Japanese patients with adult growth hormone deficiency: A post-marketing, multicenter, observational study. ( 28923784 )
2017
21
Choroidal thickness measurements in children with isolated growth hormone deficiency. ( 28912516 )
2017
22
The prevalence of growth hormone deficiency in survivors of subarachnoid haemorrhage: results from a large single centre study. ( 28822018 )
2017
23
Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency. ( 28509131 )
2017
24
Atypical intraosseous meningioma with growth hormone deficiency and hyperparathyroidism after craniospinal irradiation. ( 28948343 )
2017
25
Effects of human recombinant growth hormone on exercise capacity, cardiac structure, and cardiac function in patients with adult-onset growth hormone deficiency. ( 28856940 )
2017
26
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. ( 28052552 )
2017
27
The rationale and design of TransCon growth hormone for the treatment of growth hormone deficiency. ( 28947559 )
2017
28
Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. ( 27789066 )
2017
29
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. ( 29137650 )
2017
30
Growth hormone improves cardiopulmonary capacity and body composition in children with growth hormone deficiency. ( 28938456 )
2017
31
Impact of the underlying etiology of growth hormone deficiency on serum IGF-I SDS levels during GH treatment in children. ( 28760908 )
2017
32
Growth-hormone deficiency in mitochondrial disorders. ( 28085676 )
2017
33
Possible effects of an early diagnosis and treatment in patients with growth hormone deficiency: the state of art. ( 28915901 )
2017
34
Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency. ( 28806841 )
2017
35
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing. ( 29412390 )
2017
36
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
37
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy. ( 28745468 )
2017
38
Nitric oxide mediates apoptosis and mitochondrial dysfunction and plays a role in growth hormone deficiency by nivalenol in GH3 cells. ( 29213091 )
2017
39
The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency. ( 28067847 )
2017
40
Effect of growth hormone treatment on children with idiopathic short stature and idiopathic growth hormone deficiency. ( 28690991 )
2017
41
Early growth hormone treatment start in childhood growth hormone deficiency improves near adult height: analysis from NordiNet(Ar) International Outcome Study. ( 28780521 )
2017
42
Comparison between euglycemic hyperinsulinemic clamp and surrogate indices of insulin sensitivity in children with growth hormone deficiency. ( 29274847 )
2017
43
Growth Hormone Deficiency in Children: From Suspecting to Diagnosing. ( 29217803 )
2017
44
Type 3 renal tubular acidosis associated with growth hormone deficiency. ( 28888090 )
2017
45
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. ( 28220259 )
2017
46
THE IMPACT OF 12-MONTH GROWTH HORMONE REPLACEMENT THERAPY ON LIPID METABOLISM AND ADIPOSE TISSUE DISTRIBUTION IN GEORGIAN PATIENTS WITH ADULT GROWTH HORMONE DEFICIENCY. ( 29328027 )
2017
47
Gender has to be taken into account in diagnosing adult growth hormone deficiency by the GHRH plus arginine test. ( 28755537 )
2017
48
Response to Growth hormone deficiency in mitochondrial disorders. ( 28315851 )
2017
49
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family. ( 28626954 )
2017
50
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. ( 28085675 )
2017

Variations for Growth Hormone Deficiency

ClinVar genetic disease variations for Growth Hormone Deficiency:

6
# 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

GO Terms for Growth Hormone Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
2 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.93 GH1 GHRH GHRL IGF1
2 cell maturation GO:0048469 9.65 BTK GHRHR
3 hormone-mediated signaling pathway GO:0009755 9.65 GHRL GHSR
4 negative regulation of insulin secretion GO:0046676 9.64 GHRL GHSR
5 pituitary gland development GO:0021983 9.64 HESX1 SOX3
6 cAMP-mediated signaling GO:0019933 9.63 GHRH GHRHR
7 decidualization GO:0046697 9.62 GHRL GHSR
8 response to food GO:0032094 9.62 GHRH GHSR
9 actin polymerization or depolymerization GO:0008154 9.61 GHRL GHSR
10 positive regulation of sprouting angiogenesis GO:1903672 9.61 GHRL GHSR
11 positive regulation of vascular endothelial cell proliferation GO:1905564 9.6 GHRL GHSR
12 positive regulation of hormone secretion GO:0046887 9.59 GHRH GHRHR
13 adult feeding behavior GO:0008343 9.58 GHRL GHSR
14 negative regulation of interleukin-1 beta production GO:0032691 9.58 GHRL GHSR
15 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.57 GHRHR IGFBP3
16 positive regulation of growth GO:0045927 9.56 GHRL GHSR
17 negative regulation of tumor necrosis factor secretion GO:1904468 9.55 GHRL GHSR
18 positive regulation of multicellular organism growth GO:0040018 9.55 GH1 GHRH GHRHR GHRL GHSR
19 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.54 GHRL GHSR
20 negative regulation of interleukin-6 biosynthetic process GO:0045409 9.52 GHRL GHSR
21 positive regulation of appetite GO:0032100 9.51 GHRL GHSR
22 positive regulation of growth hormone secretion GO:0060124 9.5 GHRH GHRHR GHRL
23 regulation of transmission of nerve impulse GO:0051969 9.49 GHRL GHSR
24 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.48 GHRHR GHRL
25 positive regulation of eating behavior GO:1904000 9.46 GHRL GHSR
26 regulation of gastric motility GO:1905333 9.43 GHRL GHSR
27 adenohypophysis development GO:0021984 9.43 GHRH GHRHR PROP1
28 positive regulation of small intestine smooth muscle contraction GO:1904349 9.4 GHRL GHSR
29 positive regulation of small intestinal transit GO:0120058 9.37 GHRL GHSR
30 growth hormone secretion GO:0030252 9.26 GHRH GHRHR GHRL GHSR
31 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:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 GH1 GHRL IGF1
2 growth factor binding GO:0019838 9.32 GHRHR IGFBP3
3 peptide hormone binding GO:0017046 9.26 GHRHR GHSR
4 growth hormone-releasing hormone receptor activity GO:0016520 8.96 GHRHR GHSR
5 growth hormone-releasing hormone activity GO:0016608 8.62 GHRH GHRL

Sources for Growth Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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