MCID: GRW007
MIFTS: 51

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 53 37 29 55 6
Isolated Somatotropin Deficiency 73
Somatotropin Deficiency 73

Classifications:



External Ids:

KEGG 37 H00254

Summaries for Growth Hormone Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Growth Hormone Deficiency, also known as isolated somatotropin deficiency, is related to isolated growth hormone deficiency, type iii and septooptic dysplasia. An important gene associated with Growth Hormone Deficiency is ADNP (Activity Dependent Neuroprotector Homeobox), and among its related pathways/superpathways are Peptide hormone metabolism and Immune response IFN gamma signaling pathway. The drugs insulin and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and pituitary, and related phenotypes are Reduced mammosphere formation and adipose tissue

Wikipedia : 76 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 291)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type iii 34.3 BTK HESX1 SOX3
2 septooptic dysplasia 33.5 HESX1 SOX3
3 isolated growth hormone deficiency, type ii 32.9 GH1 GHRH GHRHR HESX1 IGF1
4 empty sella syndrome 32.7 GH1 IGF1
5 isolated growth hormone deficiency, type ib 32.3 GH1 GHRH GHRHR IGF1 IGFBP3
6 isolated growth hormone deficiency 31.7 BTK GH1 GHRH GHRHR HESX1 IGF1
7 pseudohypoparathyroidism, type ia 30.3 GH1 IGF1
8 dwarfism 30.1 GH1 GHRH GHRHR
9 pituitary hypoplasia 29.9 GHRHR HESX1 SOX3
10 turner syndrome 29.9 GH1 IGF1 IGFBP3
11 central precocious puberty 29.8 IGF1 IGFBP3
12 slipped capital femoral epiphysis 29.5 IGF1 IGFBP3
13 pituitary stalk interruption syndrome 29.5 GH1 GHRHR HESX1 SOX3
14 laron syndrome 29.4 GH1 IGF1 IGFBP3
15 insulin-like growth factor i 29.4 GH1 GHRH IGF1 IGFBP3
16 pituitary hormone deficiency, combined, 2 29.3 GH1 HESX1 IGF1 SOX3
17 pituitary tumors 28.9 GH1 IGF1
18 craniopharyngioma 28.9 GH1 GHRL IGF1
19 hypothyroidism 28.2 ADNP GH1 HESX1 IGF1 IGFBP3
20 prader-willi syndrome 28.1 GH1 GHRL IGF1 IGFBP3
21 hypopituitarism 27.9 GH1 GHRH HESX1 IGF1 IGFBP3 SOX3
22 acromegaly 27.7 GH1 GHRH GHRL IGF1 IGFBP3
23 diabetes mellitus, noninsulin-dependent 27.6 GH1 GHRL IGF1 IGFBP3
24 anorexia nervosa 26.8 GH1 GHRH GHRL IGF1 IGFBP3
25 isolated growth hormone deficiency, type ia 12.7
26 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.4
27 growth hormone deficiency, isolated partial 12.3
28 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.1
29 mental retardation, x-linked, with panhypopituitarism 11.9
30 stratton-parker syndrome 11.4
31 growth hormone insensitivity, partial 11.4
32 septo-optic dysplasia spectrum 11.4
33 kearns-sayre syndrome 11.2
34 noonan syndrome-like disorder with loose anagen hair 1 11.2
35 hypotonia-cystinuria syndrome 11.0
36 pallister-hall syndrome 10.8
37 microphthalmia, syndromic 3 10.8
38 ritscher-schinzel syndrome 1 10.8
39 growth hormone insensitivity with immunodeficiency 10.8
40 microphthalmia, syndromic 5 10.8
41 culler-jones syndrome 10.8
42 growth hormone secreting pituitary adenoma 10.5 GHRHR GHSR
43 hypothyroidism, congenital, nongoitrous, 4 10.4 GH1 IGF1
44 hypothalamic disease 10.4 GH1 GHRH
45 gigantism 10.4 GH1 GHRH
46 central nervous system organ benign neoplasm 10.3 HESX1 IGF1
47 aging 10.3
48 marasmus 10.3 GH1 IGFBP3
49 chromophobe adenoma 10.2 GH1 GHRH
50 hypoglycemia 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

GenomeRNAi Phenotypes related to Growth Hormone Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 HESX1 IARS2 IGF1 IGFBP3 GHRL

MGI Mouse Phenotypes related to Growth Hormone Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.55 GHRHR GHRL GHSR IGF1 IGFBP3
2 endocrine/exocrine gland MP:0005379 9.5 GHRH GHRHR GHRL HESX1 IGF1 IGFBP3
3 growth/size/body region MP:0005378 9.23 GHRH GHRHR GHSR HESX1 IGF1 IGFBP3

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,Not Applicable,Early Phase 1
2 Imatinib Mesylate Phase 4 220127-57-1 123596
3 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
4 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
5 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
7 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
8 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10
Zinc Approved, Investigational Phase 3,Not Applicable,Early Phase 1 7440-66-6 23994
11
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
12
Clonidine Approved Phase 3 4205-90-7 2803
13
Benzocaine Approved, Investigational Phase 3,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
14
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
15
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
16
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
17
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
18
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
19
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
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,Not Applicable
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,Not Applicable,Early Phase 1
27 Liver Extracts Phase 3,Not Applicable
28 Anti-Inflammatory Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
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,Not Applicable
41 Antibodies Phase 3,Phase 2
42 Immunoglobulins Phase 3,Phase 2
43 Antihypertensive Agents Phase 3
44 Aromatase Inhibitors Phase 2, Phase 3
45 Autonomic Agents Phase 3
46 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 3,Phase 1
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 260)
# 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 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
8 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
9 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
10 IGF1 Generation Test Completed NCT00145457 Phase 4
11 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
12 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
13 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
14 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
15 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
16 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
17 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
18 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
19 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
20 Easypod United States User Trial Completed NCT00689260 Phase 4
21 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
22 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
23 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
24 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4 growth hormone
25 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
26 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
27 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
28 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
29 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
30 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
31 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
32 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
33 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
34 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
35 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
36 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
37 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
38 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
39 Extension Study on Safety of Long-Term Growth Hormone Replacement in Adult Patients With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
40 Treatment of Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
41 Evaluation of Efficacy and Safety of Recombinant Somatroipn in Patients With Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
42 Treatment of Adults With Growth Hormone Deficiency Completed NCT00294619 Phase 3 growth hormone
43 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
44 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®
45 Cool.Click™ Adolescent Transition Study: Study of Saizen® in Subjects With Childhood-onset Growth Hormone Deficiency Completed NCT00109733 Phase 3
46 A Study of Zomacton in Children With Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
47 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Somatropin in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin
48 A Trial to Compare the Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® FlexPro® for 26 Weeks in Previously Human Growth Hormone Treated Adults With Growth Hormone Deficiency Completed NCT02382939 Phase 3 somapacitan;somatropin
49 Safety and Efficacy of Somatropin in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;somatropin
50 Growth Hormone Deficiency in Adults (GHDA) Completed NCT00519558 Phase 3 somatropin

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 29

Anatomical Context for Growth Hormone Deficiency

MalaCards organs/tissues related to Growth Hormone Deficiency:

41
Bone, Testes, Pituitary, Brain, Heart, Liver, Endothelial

Publications for Growth Hormone Deficiency

Articles related to Growth Hormone Deficiency:

(show top 50) (show all 1204)
# Title Authors Year
1
The pre-treatment characteristics and evaluation of the effects of recombinant human growth hormone therapy in children with growth hormone deficiency and celiac disease or inflammatory bowel disease. ( 29736148 )
2018
2
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
3
Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection. ( 29317355 )
2018
4
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
5
Glucose Metabolism in Children With Growth Hormone Deficiency. ( 29942285 )
2018
6
Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency. ( 29618660 )
2018
7
Short-Term Evaluation of Left Ventricular Mass and Function in Children With Growth Hormone Deficiency After Replacement Treatment. ( 29971224 )
2018
8
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
9
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
10
Efficacy of Growth Hormone Treatment in Children with Type 1 Diabetes Mellitus and Growth Hormone Deficiency-An Analysis of KIGS Data. ( 29656861 )
2018
11
Growth Hormone Deficiency Causing Micropenis: Lessons Learned From a Well-Adjusted Adult. ( 29959177 )
2018
12
Growth Hormone Deficiency in the Transition Age. ( 29886481 )
2018
13
Macimorelin as a Diagnostic Test for Adult Growth Hormone Deficiency. ( 29860473 )
2018
14
Evaluation of glucose metabolism in children with growth hormone deficiency during long-term growth hormone treatment. ( 29980142 )
2018
15
Same Phenotype in Children with Growth Hormone Deficiency and Resistance. ( 29850346 )
2018
16
Vitamin D in children with growth hormone deficiency due to pituitary stalk interruption syndrome. ( 29368588 )
2018
17
The relationship between alkaline phosphatase and bone alkaline phosphatase activity and the growth hormone/insulin-like growth factor-1 axis and vitamin D status in children with growth hormone deficiency. ( 29649340 )
2018
18
Immunological and microbiological periodontal profiles in isolated growth hormone deficiency. ( 29797719 )
2018
19
Assessing the Impact of Growth Hormone Deficiency (GHD) in Adults: Interpreting Change of the Treatment-Related Impact Measure-Adult Growth Hormone Deficiency (TRIM-AGHD). ( 29797004 )
2018
20
Pituitary height at magnetic resonance imaging in pediatric isolated growth hormone deficiency. ( 29508041 )
2018
21
The associations between the growth hormone/insulin-like growth factor-1 axis, adiponectin, resistin and metabolic profile in children with growth hormone deficiency before and during growth hormone treatment. ( 29913483 )
2018
22
Empty sella associated with growth hormone deficiency and polydactyly. ( 29940653 )
2018
23
Effect of recombinant human growth hormone therapy on blood lipid and carotid intima-media thickness in children with growth hormone deficiency. ( 29206809 )
2018
24
Is growth hormone deficiency associated with anxiety disorder and depressive symptoms in children and adolescents?: A case-control study. ( 29886327 )
2018
25
Is growth hormone administration essential for in vitro fertilization treatment of female patients with growth hormone deficiency? ( 29975109 )
2018
26
Near final height in patients with idiopathic growth hormone deficiency: A single-centre experience. ( 29806866 )
2018
27
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. ( 29959388 )
2018
28
Effect of low-normal and high-normal IGF-1 levels on memory and wellbeing during growth hormone replacement therapy: a randomized clinical trial in adult growth hormone deficiency. ( 29980224 )
2018
29
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report. ( 29443755 )
2018
30
Design of the Growth hormone deficiency and Efficacy of Treatment (GET) score and non-interventional proof of concept study. ( 29433573 )
2018
31
Oxidative stress in adult growth hormone deficiency: different plasma antioxidant patterns in comparison with metabolic syndrome. ( 29143180 )
2018
32
A novel variant c.97C>T of the Growth Hormone Releasing Hormone Receptor gene causes isolated growth hormone deficiency type Ib. ( 29537382 )
2018
33
Effect of growth hormone treatment on children with idiopathic short stature and idiopathic growth hormone deficiency. ( 28690991 )
2017
34
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy. ( 28745468 )
2017
35
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. ( 28190287 )
2017
36
A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion. ( 29228534 )
2017
37
Nitric oxide mediates apoptosis and mitochondrial dysfunction and plays a role in growth hormone deficiency by nivalenol in GH3 cells. ( 29213091 )
2017
38
Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency. ( 28806841 )
2017
39
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
40
Growth Hormone Deficiency, Basal Encephalocele, and Morning Glory Anomaly. ( 28938928 )
2017
41
Atypical intraosseous meningioma with growth hormone deficiency and hyperparathyroidism after craniospinal irradiation. ( 28948343 )
2017
42
Impact of the underlying etiology of growth hormone deficiency on serum IGF-I SDS levels during GH treatment in children. ( 28760908 )
2017
43
The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency. ( 28067847 )
2017
44
Response to Growth hormone deficiency in mitochondrial disorders. ( 28315851 )
2017
45
The prevalence of growth hormone deficiency in survivors of subarachnoid haemorrhage: results from a large single centre study. ( 28822018 )
2017
46
Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect on retina. ( 29082892 )
2017
47
Growth Hormone Deficiency in Children: From Suspecting to Diagnosing. ( 29217803 )
2017
48
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ( 29147571 )
2017
49
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. ( 29221463 )
2017
50
Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings. ( 29213168 )
2017

Variations for Growth Hormone Deficiency

ClinVar genetic disease variations for Growth Hormone Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
2 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 GRCh38 Chromosome 20, 50892526: 50892526
3 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant 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 extracellular space GO:0005615 9.63 ADNP GH1 GHRH GHRL IGF1 IGFBP3
2 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
3 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 32)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.92 GH1 GHRH GHRL IGF1
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 ADNP GH1 IGF1
3 response to nutrient levels GO:0031667 9.71 GH1 GHRL IGF1
4 hormone-mediated signaling pathway GO:0009755 9.65 GHRL GHSR
5 cell maturation GO:0048469 9.65 BTK GHRHR
6 pituitary gland development GO:0021983 9.65 HESX1 SOX3
7 negative regulation of insulin secretion GO:0046676 9.64 GHRL GHSR
8 positive regulation of sprouting angiogenesis GO:1903672 9.64 GHRL GHSR
9 response to food GO:0032094 9.63 GHRH GHSR
10 decidualization GO:0046697 9.63 GHRL GHSR
11 positive regulation of vascular endothelial cell proliferation GO:1905564 9.62 GHRL GHSR
12 actin polymerization or depolymerization GO:0008154 9.61 GHRL GHSR
13 adult feeding behavior GO:0008343 9.61 GHRL GHSR
14 positive regulation of hormone secretion GO:0046887 9.6 GHRH GHRHR
15 negative regulation of interleukin-1 beta production GO:0032691 9.58 GHRL GHSR
16 adenohypophysis development GO:0021984 9.58 GHRH GHRHR
17 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.57 GHRHR IGFBP3
18 negative regulation of tumor necrosis factor secretion GO:1904468 9.56 GHRL GHSR
19 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.55 GHRL GHSR
20 positive regulation of multicellular organism growth GO:0040018 9.55 GH1 GHRH GHRHR GHRL GHSR
21 negative regulation of interleukin-6 biosynthetic process GO:0045409 9.52 GHRL GHSR
22 positive regulation of appetite GO:0032100 9.51 GHRL GHSR
23 positive regulation of growth GO:0045927 9.5 GH1 GHRL GHSR
24 positive regulation of eating behavior GO:1904000 9.49 GHRL GHSR
25 regulation of transmission of nerve impulse GO:0051969 9.48 GHRL GHSR
26 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.46 GHRHR GHRL
27 regulation of gastric motility GO:1905333 9.43 GHRL GHSR
28 positive regulation of growth hormone secretion GO:0060124 9.43 GHRH GHRHR GHRL
29 positive regulation of small intestine smooth muscle contraction GO:1904349 9.4 GHRL GHSR
30 positive regulation of small intestinal transit GO:0120058 9.37 GHRL GHSR
31 growth hormone secretion GO:0030252 9.26 GHRH GHRHR GHRL GHSR
32 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 peptide hormone binding GO:0017046 9.26 GHRHR GHSR
3 growth hormone-releasing hormone receptor activity GO:0016520 8.96 GHRHR GHSR
4 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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