MCID: GRW007
MIFTS: 52

Growth Hormone Deficiency

Categories: Bone diseases, Endocrine diseases, Rare 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 isolated growth hormone deficiency, type ii. 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 Hormones, Hormone Substitutes, and Hormone Antagonists and Hormone Antagonists 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 330)
# 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 33.9 GH1 GHRH GHRHR HESX1 IGF1
3 isolated growth hormone deficiency, type ib 33.6 GH1 GHRH GHRHR IGF1 IGFBP3
4 isolated growth hormone deficiency 33.5 BTK GH1 GHRH GHRHR HESX1 IGF1
5 septooptic dysplasia 33.4 HESX1 SOX3
6 empty sella syndrome 32.4 GH1 IGF1
7 traumatic brain injury 30.5 GH1 IGF1
8 insulin-like growth factor i 30.4 GH1 GHRH IGF1 IGFBP3
9 turner syndrome 30.3 GH1 IGF1 IGFBP3
10 dwarfism 30.2 GH1 GHRH GHRHR
11 pseudohypoparathyroidism, type ia 30.0 GH1 IGF1
12 pituitary stalk interruption syndrome 30.0 GH1 GHRHR HESX1 SOX3
13 silver-russell syndrome 30.0 GH1 IGF1 IGFBP3
14 slipped capital femoral epiphysis 29.9 IGF1 IGFBP3
15 pituitary hypoplasia 29.9 GHRHR HESX1 SOX3
16 hypopituitarism 29.8 GH1 GHRH HESX1 IGF1 IGFBP3 SOX3
17 laron syndrome 29.8 GH1 IGF1 IGFBP3
18 acromegaly 29.7 GH1 GHRH GHRL IGF1 IGFBP3
19 prader-willi syndrome 29.7 GH1 GHRL IGF1 IGFBP3
20 pituitary hormone deficiency, combined, 2 29.6 GH1 HESX1 IGF1 SOX3
21 hypothyroidism 29.6 ADNP GH1 HESX1 IGF1 IGFBP3
22 pituitary tumors 29.5 GH1 IGF1
23 mccune-albright syndrome 29.4 GH1 IGF1
24 pituitary gland disease 29.3 GH1 GHRH HESX1 IGF1
25 craniopharyngioma 29.3 GH1 GHRL IGF1
26 diabetes mellitus, noninsulin-dependent 28.8 GH1 GHRL IGF1 IGFBP3
27 anorexia nervosa 28.7 GH1 GHRH GHRL IGF1 IGFBP3
28 isolated growth hormone deficiency, type ia 12.8
29 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.7
30 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.6
31 growth hormone deficiency, isolated partial 12.5
32 isolated growth hormone deficiency, type v 12.4
33 isolated growth hormone deficiency, type iv 12.3
34 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.3
35 mental retardation, x-linked, with panhypopituitarism 12.1
36 stratton-parker syndrome 11.5
37 growth hormone insensitivity, partial 11.5
38 septo-optic dysplasia spectrum 11.5
39 kearns-sayre syndrome 11.3
40 ritscher-schinzel syndrome 1 11.3
41 noonan syndrome-like disorder with loose anagen hair 1 11.3
42 short stature wormian bones dextrocardia 11.3
43 hypotonia-cystinuria syndrome 11.1
44 culler-jones syndrome 11.1
45 pallister-hall syndrome 11.0
46 microphthalmia, syndromic 3 11.0
47 growth hormone insensitivity with immunodeficiency 11.0
48 frias syndrome 11.0
49 microphthalmia, syndromic 5 11.0
50 brain injury 10.3

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 GHRL HESX1 IARS2 IGF1 IGFBP3

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 BTK GHRH GHRHR GHSR HESX1 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 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
2 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
3 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
4 Imatinib Mesylate Phase 4 220127-57-1 123596
5 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
7 insulin Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
8 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10
Zinc Approved, Investigational Phase 3,Not Applicable,Early Phase 1 7440-66-6
11
Mecasermin Approved, Investigational Phase 3,Not Applicable 68562-41-4
12
Clonidine Approved Phase 3 4205-90-7 2803
13 tannic acid Approved Phase 3,Phase 2,Not Applicable
14
Benzocaine Approved, Investigational Phase 3,Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
15
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
16
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
17
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
18
Vinblastine Approved Phase 2, Phase 3 865-21-4 241903 13342
19
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
21
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
22
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
23
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
24
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
25
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
26
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
27
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
28
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
29
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Hypoglycemic Agents Phase 3,Not Applicable,Early Phase 1
31 Liver Extracts Phase 3,Not Applicable
32 Antimetabolites Phase 2, Phase 3,Phase 1,Not Applicable
33 Anti-Inflammatory Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
34 arginine Phase 3,Phase 1,Not Applicable
35 Antibodies Phase 3,Phase 2
36 Immunoglobulins Phase 3,Phase 2
37 Immunologic Factors Phase 3,Phase 2
38 Estrogens Phase 3,Phase 2,Not Applicable
39 Analgesics Phase 3,Phase 2
40 Autonomic Agents Phase 3
41 Adrenergic alpha-Agonists Phase 3
42 Antihypertensive Agents Phase 3
43 Sympatholytics Phase 3
44 Adrenergic Agents Phase 3,Phase 2
45 Adrenergic alpha-2 Receptor Agonists Phase 3
46 Peripheral Nervous System Agents Phase 3,Phase 2
47 Neurotransmitter Agents Phase 3,Phase 2
48 Adrenergic Agonists Phase 3
49 Steroid Synthesis Inhibitors Phase 2, Phase 3
50 Estrogen Receptor Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 265)
# Name Status NCT ID Phase Drugs
1 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Unknown status NCT02908958 Phase 4
2 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Unknown status NCT02976675 Phase 4
3 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
4 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
5 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®)
6 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
7 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
8 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
9 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
10 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
11 IGF1 Generation Test Completed NCT00145457 Phase 4
12 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
13 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
14 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
15 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
16 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
17 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
18 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
19 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
20 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
21 Easypod United States User Trial Completed NCT00689260 Phase 4
22 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
23 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
24 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
25 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4 growth hormone
26 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
27 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
28 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 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 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
33 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
34 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
35 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
36 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
37 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
38 Extension Study on Safety of Long-Term Growth Hormone Replacement in Adult Patients With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
39 Treatment of Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
40 Treatment of Adults With Growth Hormone Deficiency Completed NCT00294619 Phase 3 growth hormone
41 Evaluation of Efficacy and Safety of Recombinant Somatroipn in Patients With Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
42 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
43 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®
44 Cool.Click™ Adolescent Transition Study: Study of Saizen® in Subjects With Childhood-onset Growth Hormone Deficiency Completed NCT00109733 Phase 3
45 A Study of Zomacton in Children With Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
46 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
47 A Trial to Evaluate the Safety of Once Weekly Dosing of Somapacitan (NNC0195-0092) and Daily Norditropin® FlexPro® for 52 Weeks in Previously Human Growth Hormone Treated Japanese Adults With Growth Hormone Deficiency Completed NCT03075644 Phase 3 somapacitan;Norditropin
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, Thyroid

Publications for Growth Hormone Deficiency

Articles related to Growth Hormone Deficiency:

(show top 50) (show all 1374)
# 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
Brachydactyly mental retardation syndrome with growth hormone deficiency. ( 30087780 )
2018
32
Dental caries and vitamin D3 in children with growth hormone deficiency: A STROBE compliant study. ( 29465564 )
2018
33
Cerebral Salt Wasting Complicated by Central Diabetes Insipidus and Growth Hormone Deficiency. ( 29455327 )
2018
34
Type 2 Diabetes Mellitus, a Sequel of Untreated Childhood Onset Growth Hormone Deficiency Developing in a 17-Year-Old Patient. ( 30473891 )
2018
35
Growth Hormone Deficiency and Nonalcoholic Fatty Liver Disease with Insights from Humans and Animals: Pediatric Implications. ( 30346875 )
2018
36
Body Mass Disorders in Healthy Short Children and in Children with Growth Hormone Deficiency. ( 28643234 )
2018
37
Effects of growth hormone therapy on bone density and fracture risk in age-related osteoporosis in the absence of growth hormone deficiency: a systematic review and meta-analysis. ( 29030774 )
2018
38
Oxidative stress in adult growth hormone deficiency: different plasma antioxidant patterns in comparison with metabolic syndrome. ( 29143180 )
2018
39
Comparison between euglycemic hyperinsulinemic clamp and surrogate indices of insulin sensitivity in children with growth hormone deficiency. ( 29274847 )
2018
40
Corrigendum to "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" [Growth Hormon. IGF Res. 36 (2017) 36-43]. ( 29459140 )
2018
41
Vitamin D status in prepubertal children with isolated idiopathic growth hormone deficiency: effect of growth hormone therapy. ( 29478008 )
2018
42
Multi-centre phase IV trial to investigate the immunogenicity of a new liquid formulation of recombinant human growth hormone in adults with growth hormone deficiency. ( 29488103 )
2018
43
Growth hormone deficiency and pregnancy: any role for substitution? ( 29521487 )
2018
44
Effects of Growth Hormone Replacement on Peripheral Muscle and Exercise Capacity in Severe Growth Hormone Deficiency. ( 29527190 )
2018
45
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib ( 29537382 )
2018
46
Prospective Follow-up of Children with Idiopathic Growth Hormone Deficiency After Termination of Growth Hormone Treatment: Is There Really Need for Treatment at Transition to Adulthood? ( 29553045 )
2018
47
Treatment with Growth Hormone for Adults with Growth Hormone Deficiency Syndrome: Benefits and Risks. ( 29562611 )
2018
48
Effects of Therapy With Semi-occluded Vocal Tract and Choir Training on Voice in Adult Individuals With Congenital, Isolated, Untreated Growth Hormone Deficiency. ( 29567051 )
2018
49
Elevated (Pro)renin Receptor Expression Contributes to Maintaining Aerobic Metabolism in Growth Hormone Deficiency. ( 29594258 )
2018
50
Direct and indirect effects of Growth Hormone Deficiency (GHD) on lung function in children: A mediation analysis. ( 29605215 )
2018

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 rs886041116 GRCh37 Chromosome 20, 49509063: 49509063
2 ADNP NM_001282531.2(ADNP): c.2188C> T (p.Arg730Ter) single nucleotide variant Pathogenic rs886041116 GRCh38 Chromosome 20, 50892526: 50892526
3 CEP85L; PLN NC_000006.11: g.118823423_118880554dup duplication Uncertain significance GRCh37 Chromosome 6, 118823423: 118880554

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 33)
# 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 9.75 ADNP GH1 IGF1
3 positive regulation of insulin secretion GO:0032024 9.66 GHRH GHRL
4 cell maturation GO:0048469 9.65 BTK GHRHR
5 negative regulation of insulin secretion GO:0046676 9.65 GHRL GHSR
6 pituitary gland development GO:0021983 9.65 HESX1 SOX3
7 positive regulation of sprouting angiogenesis GO:1903672 9.64 GHRL GHSR
8 decidualization GO:0046697 9.64 GHRL GHSR
9 positive regulation of vascular endothelial cell proliferation GO:1905564 9.63 GHRL GHSR
10 response to food GO:0032094 9.63 GHRH GHSR
11 regulation of postsynapse organization GO:0099175 9.62 GHRL GHSR
12 actin polymerization or depolymerization GO:0008154 9.61 GHRL GHSR
13 response to dexamethasone GO:0071548 9.61 GHRH GHSR
14 adult feeding behavior GO:0008343 9.6 GHRL GHSR
15 negative regulation of interleukin-1 beta production GO:0032691 9.59 GHRL GHSR
16 positive regulation of hormone secretion GO:0046887 9.58 GHRH GHRHR
17 adenohypophysis development GO:0021984 9.57 GHRH GHRHR
18 postsynaptic modulation of chemical synaptic transmission GO:0099170 9.56 GHRL GHSR
19 negative regulation of tumor necrosis factor secretion GO:1904468 9.55 GHRL GHSR
20 positive regulation of multicellular organism growth GO:0040018 9.55 GH1 GHRH GHRHR GHRL GHSR
21 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.54 GHRL GHSR
22 positive regulation of growth GO:0045927 9.54 GH1 GHRL GHSR
23 negative regulation of interleukin-6 biosynthetic process GO:0045409 9.52 GHRL GHSR
24 positive regulation of appetite GO:0032100 9.51 GHRL GHSR
25 positive regulation of growth hormone secretion GO:0060124 9.5 GHRH GHRHR GHRL
26 positive regulation of eating behavior GO:1904000 9.49 GHRL GHSR
27 regulation of transmission of nerve impulse GO:0051969 9.48 GHRL GHSR
28 positive regulation of small intestine smooth muscle contraction GO:1904349 9.46 GHRL GHSR
29 regulation of gastric motility GO:1905333 9.43 GHRL GHSR
30 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.43 GHRH GHRHR GHRL
31 positive regulation of small intestinal transit GO:0120058 9.4 GHRL GHSR
32 growth hormone secretion GO:0030252 9.26 GHRH GHRHR GHRL GHSR
33 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 peptide hormone binding GO:0017046 9.26 GHRHR GHSR
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 hormone activity GO:0005179 8.92 GH1 GHRH GHRL IGF1

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
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....