Growth Hormone Deficiency

Categories: Bone diseases, Endocrine diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Growth Hormone Deficiency

MalaCards integrated aliases for Growth Hormone Deficiency:

Name: Growth Hormone Deficiency 20 36 29 54 6
Isolated Somatotropin Deficiency 70
Somatotropin Deficiency 70


External Ids:

KEGG 36 H00254
UMLS 70 C0271561 C3714796

Summaries for Growth Hormone Deficiency

GARD : 20 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 s everal 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 ia and isolated growth hormone deficiency, type iv. An important gene associated with Growth Hormone Deficiency is GH1 (Growth Hormone 1), and among its related pathways/superpathways is Relaxin signaling pathway. The drugs Hormone Antagonists and insulin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and endothelial.

KEGG : 36 Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short statue and normal body proportions caused by growth hormone deficiency.

Wikipedia : 73 Growth hormone deficiency (GHD) is a medical condition resulting from not enough growth hormone (GH).... 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 670)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 32.9 RNPC3 GH1 GH-LCR
2 isolated growth hormone deficiency, type iv 32.8 GHRHR GH1 GH-LCR
3 isolated growth hormone deficiency, type ib 32.4 GHRHR GHRH GH1 GH-LCR
4 isolated growth hormone deficiency, type ii 32.2 HESX1 GHRHR GHRH GH1 GH-LCR
5 septooptic dysplasia 31.9 SOX3 HESX1 GHRHR GHRH GH1
6 isolated growth hormone deficiency type iii 31.8 SOX3 HESX1 GHRHR GHRH GH1 BTK
7 pituitary hypoplasia 30.9 SOX3 HESX1 GHRHR GH1
8 dwarfism 30.7 GHRHR GHRH GH1
9 hypopituitarism 30.6 SOX3 HESX1 GHRHR GHRH GH1
10 laron syndrome 30.4 GHRHR GH1
11 acromegaly 30.3 GHSR GHRHR GHRH GH1
12 hypothyroidism 30.2 HESX1 GHRH GH1 ADNP
13 pituitary adenoma, prolactin-secreting 30.2 GHSR GHRHR GH1
14 isolated growth hormone deficiency 30.2 SOX3 RNPC3 LOC108004536 LOC105980078 HESX1 GHSR
15 hypothalamic disease 30.1 GHRH GH1
16 pseudohypoparathyroidism, type ia 30.1 GHRH GH1
17 pituitary gland disease 30.0 SOX3 HESX1 GHRHR GHRH GH1
18 congenital hypopituitarism 30.0 HESX1 GHRH
19 pituitary hormone deficiency, combined, 2 29.9 SOX3 HESX1 GHRHR GHRH GH1
20 pituitary adenoma 29.9 GHSR GHRHR GHRH GH1
21 anorexia nervosa 29.7 GHSR GHRH GH1
22 gigantism 29.7 GHRH GH1
23 pituitary-dependent cushing's disease 29.6 GHRH GH1
24 sheehan syndrome 29.6 HESX1 GHRH
25 functioning pituitary adenoma 29.4 GHRH GH1
26 fibrous dysplasia 29.2 GHRH GH1
27 isolated growth hormone deficiency, type iii, with agammaglobulinemia 11.8
28 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 11.8
29 mental retardation, x-linked, with panhypopituitarism 11.8
30 isolated growth hormone deficiency, type v 11.7
31 growth hormone deficiency, isolated partial 11.6
32 stratton-parker syndrome 11.4
33 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 11.4
34 empty sella syndrome 11.2
35 growth hormone insensitivity, partial 11.2
36 hypotonia-cystinuria syndrome 11.2
37 culler-jones syndrome 11.2
38 kearns-sayre syndrome 11.1
39 pallister-hall syndrome 11.1
40 microphthalmia, syndromic 5 11.1
41 microphthalmia, syndromic 3 11.0
42 ritscher-schinzel syndrome 1 11.0
43 noonan syndrome-like disorder with loose anagen hair 11.0
44 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive 11.0
45 hypothyroidism, central, with testicular enlargement 11.0
46 frias syndrome 11.0
47 schaaf-yang syndrome 11.0
48 vertebral anomalies and variable endocrine and t-cell dysfunction 11.0
49 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.0
50 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 11.0

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

Diseases related to Growth Hormone Deficiency

Symptoms & Phenotypes for Growth Hormone Deficiency

Drugs & Therapeutics for Growth Hormone Deficiency

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

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4
2 insulin Phase 4
3 Insulin, Globin Zinc Phase 4
Zinc Approved, Investigational Phase 3 7440-66-6 32051
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
Clonidine Approved Phase 3 4205-90-7 2803
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
10 Hypoglycemic Agents Phase 3
11 Estrogens Phase 3
12 Pharmaceutical Solutions Phase 3
13 Neurotransmitter Agents Phase 3
14 Adrenergic alpha-Agonists Phase 3
15 Sympatholytics Phase 3
16 Antihypertensive Agents Phase 3
17 Adrenergic Agents Phase 3
18 Analgesics Phase 3
19 Adrenergic Agonists Phase 3
20 Mitogens Phase 3
21 Antibodies Phase 3
22 Immunoglobulins Phase 3
23 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
24 Secretagogues Phase 2
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
Phenylpropanolamine Approved, Vet_approved, Withdrawn 14838-15-4 26934
Dextromethorphan Approved 125-71-3 5360696 5362449
Caffeine Approved 58-08-2 2519
Glucagon Approved 16941-32-5
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605
Pioglitazone Approved, Investigational 111025-46-8 4829
Sodium citrate Approved, Investigational 68-04-2
Epinephrine Approved, Vet_approved 51-43-4 5816
Racepinephrine Approved 329-65-7 838
Lidocaine Approved, Vet_approved 137-58-6 3676
Hydrocortisone Approved, Vet_approved 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved 50-03-3
Nitric Oxide Approved 10102-43-9 145068
Methyltestosterone Approved 58-18-4 6010
Testosterone Approved, Investigational 58-22-0 6013
Testosterone undecanoate Approved, Investigational 5949-44-0
Testosterone enanthate Approved 315-37-7 9416
Calcium carbonate Approved, Investigational 471-34-1
Risedronate Approved, Investigational 105462-24-6 5245
Mecasermin Approved, Investigational 68562-41-4
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
N,N-dimethylarginine Experimental 30315-93-6 123831
50 Central Nervous System Stimulants

Interventional clinical trials:

(show top 50) (show all 197)
# Name Status NCT ID Phase Drugs
1 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Randomized, Open-label, Parallel Phase IV Clinical Trial With Different Administration Frequency of PEG Somatropin Unknown status NCT02976675 Phase 4
2 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
3 Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Children Growth Hormone Deficiency: A Multicenter, Randomized, Parallel, Dose-control Clinical Trial II Unknown status NCT02908958 Phase 4
4 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Open-label, Phase IV Clinical Trial With Different Administration Dosage of PEG Somatropin Unknown status NCT03249480 Phase 4
5 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
6 A Multicentre Study on the Capacity of the IGF-1 Stimulation Test to Predict the Growth Promoting Effect of Standard and High Doses of Genotonorm® in Prepubertal Children With Growth Hormone Deficiency. Completed NCT00145457 Phase 4
7 Effect of Growth Hormone Replacement Therapy on Cardiovascular Risk Factors in Adult Patients With Severe Growth Hormone Deficiency: Association With IGF-I Concentration Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
8 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
9 Open-label, Single-arm, Phase IV, Multicenter Trial to Explore the 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®)
10 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
11 A Phase IV, Multicenter, Open-Label Study of the Immunogenicity of Nutropin AQ® V1.1 [Somatropin (rDNA Origin) Injection] Administered Daily to Naïve Growth Hormone-Deficient Children (iSTUDY) Completed NCT02311894 Phase 4 Somatropin
12 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
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 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 Study to Compare Injection Anxiety Immediately Before the Administration of Each Dose of Tev-Tropin® Between a Needle-syringe Injection Method and a Needle-free Injection Method in Pediatric Subjects With Human Growth Hormone Deficiency Completed NCT00990340 Phase 4
16 Effects of Treatment With Human Growth Hormone on Insulin Resistance and Insulin Secretion in Adults With Growth Hormone Deficiency Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
17 A Randomized, Multicenter, 3 Month Phase IV Study to Evaluate the Effect on Subject Adherence With Injection Schedule by Using the Easypod™ rhGH Delivery Device Completed NCT00689260 Phase 4
18 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
19 Comparison of an Incremental Weight-Based Dose Regimen With an Individualized Dosage Adjusted According to the IGF-I Response in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
20 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient Pre-pubertal Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
21 Randomized Cross Over Double Blind Versus Placebo Trial Followed by an Open Phase Studying Effect of Norditropin® on Left Ventricular Mass of Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
22 The Extension Study of Phase IV Clinical Trial of Pegylated Somatropin (PEG Somatropin) to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
23 Placebo Controlled Trial on the Efficacy of Growth Hormone Replacement Therapy in Patients With Growth Hormone Deficiency After Traumatic Brain Injury. Terminated NCT00555009 Phase 4 Genotropin;Placebo
24 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
25 Head Trauma With Traumatic Brain Injury (TBI): A Multicenter, Phase IV Study to Evaluate the Effects of Genotropin in Adult Patients With Growth Hormone Deficiency (GHD) Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
26 Placebo-Controlled Trial On The Efficacy Of Growth Hormone Replacement Therapy In Patients With Growth Hormone Deficiency After Traumatic Brain Injury Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
27 A Phase III, Multi-centre, Randomised, Parallel Group Study of Safety and Efficacy of the LB03002 a New Sustained Release Formulation of Human Recombinant Growth Hormone as Compared to Standard Daily Therapy in Treatment Naive Children With Growth Failure Due to Insufficient Secretion of Endogenous Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
28 Treatment With Recombinant Human Growth Hormone (Genotonorm®) In Children With Short Stature Secondary To A Long Term Corticoid Therapy. A Study of Efficacy and Safety. Completed NCT00174278 Phase 3 Somatropin
29 Usability and Acceptability of Stylomax® in Growth Hormone Deficient Children. Completed NCT00476385 Phase 3 somatropine
30 A Multicenter, Open-label, Randomized Two Arm Cross Over Study Assessing Dyad (Subject and Caregiver) and Adult Subject Perception of Convenience and Preference of the Newly Developed Genotropin Mark VII Pen. Completed NCT01112865 Phase 3
31 Multicenter, Open-Label Study Assessing Dyad (Subject And Caregiver) Perception Of Convenience And Preference Of The Newly Developed Mark VII Injection Pen Completed NCT00965484 Phase 3
32 A Multicenter, Phase 3, Randomized, Open-label, Active-controlled, Parallel-group Trial Investigating the Safety, Tolerability, and Efficacy of TransCon hGH Administered Once a Week Versus Standard Daily hGH Replacement Therapy Over 52 Weeks in Prepubertal Children With Growth Hormone Deficiency (GHD) Completed NCT02781727 Phase 3 Once weekly subcutaneous injection of TransCon hGH;Once daily subcutaneous injection of Genotropin
33 GH Therapy in Partial GHD Adolescents : Evaluation of Efficacy Based on Body Composition and Comparison of 2 Different Doses of Genotonorm®. Open-Label, Randomised, Comparative, Controlled, Parallel-Group, Multi-Center Phase IIIB Clinical Trial. Completed NCT00156143 Phase 3
34 Pegylated Somatropin in the Treatment of Children With Growth Hormone Deficient:A Multicenter, Randomized, Open-label, Controlled Phase Ⅲ Clinical Trial Completed NCT01495468 Phase 3
36 Evolution Of Growth Rate In Children With Growth Retardation Related To Long-term Corticotherapy And Treated By Genotonorm Completed NCT00163189 Phase 3 Somatropin
37 A Multicentre, Multinational, Randomised, Open-labelled, Parallel-group, Active-controlled 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
38 A Phase 3, Open-Label, Randomized, Multicenter, 12-month, Efficacy and Safety Study of Weekly MOD-4023 Compared to Daily Genotropin® Therapy in Japanese Pre-pubertal Children With Growth Hormone Deficiency Completed NCT03874013 Phase 3 MOD-4023;Genotropin
39 A Multi-center, Study Investigating a New, Oral Growth Hormone Secretagogue (GHS)(AEZS 130, Formerly Ardana (ARD)-07) as a Growth Hormone (GH) Stimulation Test in Terms of Safety and Efficacy Completed NCT00448747 Phase 3 AEZS-130 (formerly ARD-07);L-ARG+GHRH
40 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
41 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Humatrope in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin
42 A Phase IIIb, Prospective, Multicenter, Randomized, Open-label Study to Determine the Safety and Efficacy of Two Different Dosing Regimens of Saizen® (Recombinant Human Growth Hormone (r-hGH), Using Cool.Click™ in Subjects With Childhood-onset Growth Hormone Deficiency During the Adolescent Transition Phase (CATS) Completed NCT00109733 Phase 3
43 A Phase III, Multicentric, Open-label, Randomised, Comparative, Parallel Group Study of (GHRH + Arginine) Combination Test vs. Insulin Tolerance Test (ITT) in the Diagnosis of Adult Growth Hormone Deficiency (AGHD) Completed NCT01060488 Phase 3
44 Efficacy of Two Different Dose Regimens of Somatropin in Growth Hormone Deficient Adult Patients Completed NCT00570011 Phase 3 Somatropin;Somatropin
45 A Phase II/IIIa, Assessor Blinded (Partially Blinded), Randomised, Active-Controlled, Multicentre, Parallel-Group Study of the Safety, Efficacy and pk/pd of LB03002 Administered Weekly in Children With Growth Failure Due to GH Deficiency. Completed NCT00600808 Phase 2, Phase 3 BPLG-003
46 Efficacy and Safety of CinnaGen Recombinant Human Growth Hormone (CinnaTropin®) in Comparison With Novo Nordisk Growth Hormone (Nordilet®) Product in Pre-Pubertal Children With Idiopathic Growth Hormone Deficiency (IGHD) Completed NCT03223025 Phase 3 CinnaTropin®;Nordilet®
47 A Follow-up Study to Examine the Presence of Anti-human Growth Hormone Antibodies Following a Randomised, Open-label, Parallel-group, Multi-centre Trial (FE 999905 CS07) in Which the Efficacy and Safety of 12 Months' Treatment With One Daily Dose of ZOMACTON Were Compared to One Daily Dose of GENOTROPIN Completed NCT02173821 Phase 3
48 A Randomised, Open-label, Parallel-group, Multi-centre Trial to Compare the Efficacy and Safety for 12 Months of Zomacton to Genotropin in Children With Idiopathic Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
49 Phase III of the Comparative Study on the Efficacy and Safety of Recombinant Somatropin Administered to Patients With Adult Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
50 Confirmatory Validation of Oral Macimorelin as a Growth Hormone (GH) Stimulation Test (ST) for the Diagnosis of Adult Growth Hormone Deficiency (AGHD) in Comparison With the Insulin Tolerance Test (ITT) Completed NCT02558829 Phase 3 Macimorelin;Insulin

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:

Pituitary, Bone, Endothelial, Bone Marrow, Skeletal Muscle, Liver, Adipocyte

Publications for Growth Hormone Deficiency

Articles related to Growth Hormone Deficiency:

(show top 50) (show all 4530)
# Title Authors PMID Year
Improved insulin sensitivity, preserved beta cell function and improved whole-body glucose metabolism after low-dose growth hormone replacement therapy in adults with severe growth hormone deficiency: a pilot study. 61 54
20372873 2010
The accuracy of the glucagon test compared to the insulin tolerance test in the diagnosis of adrenal insufficiency in young children with growth hormone deficiency. 54 61
20350939 2010
Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. 61 54
20190537 2010
Growth hormone and bone. 54 61
19770650 2009
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. 54 61
19789204 2009
Reassessment of the growth hormone status in young adults with childhood-onset growth hormone deficiency: reappraisal of insulin tolerance testing. 61 54
19837937 2009
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. 54 61
19622623 2009
Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. 54 61
20020582 2009
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. 54 61
19567534 2009
The role of insulin like growth factor (IGF)-1 and IGF-binding protein-3 in diagnosis of Growth Hormone Deficiency in short stature children. 54 61
19381505 2009
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. 54 61
19117781 2009
Diagnosis of growth hormone deficiency in adults: provocative testing with GHRP6 in comparison to the insulin tolerance test. 61 54
19006049 2009
The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency. 61 54
18984657 2009
Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. 54 61
19209235 2009
Insulin-like growth factor I and growth responses during the first year of growth hormone treatment in KIGS patients with idiopathic growth hormone deficiency, acquired growth hormone deficiency, turner syndrome and born small for gestational age. 54 61
19153504 2009
Growth hormone-induced increases in skeletal muscle mass alleviates the associated insulin resistance in short children born small for gestational age, but not with growth hormone deficiency. 54 61
19571558 2009
Growth hormone deficient patients after traumatic brain injury--baseline characteristics and benefits after growth hormone replacement--an analysis of the German KIMS database. 54 61
18829359 2008
Reassessment of the optimal growth hormone cut-off level in insulin tolerance testing for growth hormone secretion in patients with childhood-onset growth hormone deficiency during transition to adulthood. 54 61
19189699 2008
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. 54 61
18628516 2008
Diagnosing neuroendocrine dysfunction in patients after aneurysmal subarachnoid hemorrhage in clinical practice - does basal hormone screening make sense? 61 54
18589891 2008
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency. 61 54
18160466 2008
Phenotype and course of Hutchinson-Gilford progeria syndrome. 54 61
18256394 2008
Insulin-like growth factor-1 in plasma and brain: regulation in health and disease. 61 54
17981530 2008
The effect of growth hormone treatment on serum bone alkaline phosphatase in growth hormone deficient children. 61 54
19239787 2008
Diagnostic strategy for growth hormone deficiency: relevance of IGF-1 determination as a screening test. 61 54
17991453 2007
Foot length before and during insulin-like growth factor-I treatment of children with laron syndrome compared to human growth hormone treatment of children with isolated growth hormone deficiency. 61 54
18341092 2007
Circadian pattern of prolactin secretion in children with growth hormone deficiency and congenital organic lesions in the hypothalamic-pituitary region. 61 54
18063946 2007
Fracture incidence in GH-deficient patients on complete hormone replacement including GH. 61 54
17725379 2007
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. 54 61
17785368 2007
Diagnosis and growth hormone (GH) therapy in children with GH deficiency: experience in King Chulalongkorn Memorial Hospital, Thailand. 54 61
18041422 2007
The role of recombinant insulin-like growth factor I in the treatment of the short child. 61 54
17630612 2007
A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion. 54 61
17360216 2007
Insulin like growth factors and growth hormone deficiency. 61 54
17536135 2007
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism. 54 61
17642419 2007
Effect of topical application of capsaicin and its related compounds on dermal insulin-like growth factor-I levels in mice and on facial skin elasticity in humans. 61 54
17307377 2007
Characterization of the IGF system in 15 patients with Alström syndrome. 54 61
17223998 2007
IGF-I assays: current assay methodologies and their limitations. 54 61
17429590 2007
IGF-I measurements in the diagnosis of adult growth hormone deficiency. 61 54
17429593 2007
Isolated growth hormone deficiency. 61 54
17965963 2007
Approach to the evaluation of the GH/IGF-axis in patients with pituitary disease: which test to order. 54 61
17429594 2007
IGF-I measurements in the monitoring of GH therapy. 61 54
17410471 2007
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 54 61
17526936 2006
A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency. 61 54
17178704 2006
Growth hormone deficiency, low levels of adiponectin, and unfavorable plasma lipid and lipoproteins. 61 54
16939741 2006
Serum ghrelin and leptin levels in adult growth hormone deficiency syndrome. 61 54
16740431 2006
Hypopituitarism following severe traumatic brain injury. 54 61
16868891 2006
Characteristic features of 20 patients with Sheehan's syndrome. 54 61
16785150 2006
Diagnosis of idiopathic growth hormone deficiency: contributions of data on the acid-labile subunit, insulin-like growth factor (IGF)-I and-II, and IGF binding protein-3. 61 54
16759033 2006
GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children. 61 54
17073157 2006
Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature. 54 61
16582564 2006

Variations for Growth Hormone Deficiency

ClinVar genetic disease variations for Growth Hormone Deficiency:

6 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) SNV Likely pathogenic 279598 rs886041116 GRCh37: 20:49509063-49509063
GRCh38: 20:50892526-50892526
2 GH1 , GH-LCR NM_000515.5(GH1):c.246G>C (p.Glu82Asp) SNV Uncertain significance 889155 GRCh37: 17:61995422-61995422
GRCh38: 17:63918062-63918062
3 GH1 , GH-LCR NM_000515.5(GH1):c.-40C>T SNV Uncertain significance 891385 GRCh37: 17:61996176-61996176
GRCh38: 17:63918816-63918816
4 GH1 , GH-LCR NM_000515.5(GH1):c.546A>G (p.Leu182=) SNV Uncertain significance 703573 rs4080078 GRCh37: 17:61994777-61994777
GRCh38: 17:63917417-63917417
5 GH1 , GH-LCR NM_000515.5(GH1):c.16C>A (p.Arg6=) SNV Uncertain significance 324459 rs140576665 GRCh37: 17:61995861-61995861
GRCh38: 17:63918501-63918501
6 NSMCE2 NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu) SNV Uncertain significance 873019 GRCh37:
7 GH1 , GH-LCR NM_000515.5(GH1):c.456+12G>A SNV Uncertain significance 324452 rs61762498 GRCh37: 17:61995108-61995108
GRCh38: 17:63917748-63917748
8 GH1 , GH-LCR NM_000515.5(GH1):c.291+8G>T SNV Uncertain significance 324455 rs367960425 GRCh37: 17:61995369-61995369
GRCh38: 17:63918009-63918009
9 GH1 , GH-LCR NM_000515.5(GH1):c.563T>C (p.Leu188Pro) SNV Uncertain significance 324450 rs759813905 GRCh37: 17:61994760-61994760
GRCh38: 17:63917400-63917400
10 GH1 , GH-LCR NM_000515.5(GH1):c.134G>A (p.Arg45His) SNV Uncertain significance 324456 rs71640274 GRCh37: 17:61995743-61995743
GRCh38: 17:63918383-63918383
11 GH1 , GH-LCR NM_000515.5(GH1):c.291+14T>G SNV Uncertain significance 889154 GRCh37: 17:61995363-61995363
GRCh38: 17:63918003-63918003
12 GH1 , GH-LCR NM_000515.5(GH1):c.171+6C>T SNV Uncertain significance 889156 GRCh37: 17:61995700-61995700
GRCh38: 17:63918340-63918340
13 GH1 , GH-LCR NM_000515.5(GH1):c.164A>G (p.Gln55Arg) SNV Uncertain significance 889157 GRCh37: 17:61995713-61995713
GRCh38: 17:63918353-63918353
14 GH1 , GH-LCR NM_000515.5(GH1):c.561G>A (p.Gly187=) SNV Uncertain significance 889781 GRCh37: 17:61994762-61994762
GRCh38: 17:63917402-63917402
15 GH1 , GH-LCR NM_000515.5(GH1):c.124C>T (p.Arg42Cys) SNV Uncertain significance 889834 GRCh37: 17:61995753-61995753
GRCh38: 17:63918393-63918393
16 GH1 , GH-LCR NM_000515.5(GH1):c.115G>A (p.Ala39Thr) SNV Uncertain significance 889835 GRCh37: 17:61995762-61995762
GRCh38: 17:63918402-63918402
17 GH1 , GH-LCR NM_000515.5(GH1):c.84A>G (p.Pro28=) SNV Uncertain significance 889836 GRCh37: 17:61995793-61995793
GRCh38: 17:63918433-63918433
18 GH1 , GH-LCR NM_000515.5(GH1):c.55C>T (p.Pro19Ser) SNV Uncertain significance 889837 GRCh37: 17:61995822-61995822
GRCh38: 17:63918462-63918462
19 GH1 , GH-LCR NM_000515.5(GH1):c.21G>A (p.Thr7=) SNV Uncertain significance 889838 GRCh37: 17:61995856-61995856
GRCh38: 17:63918496-63918496
20 GH1 , GH-LCR NM_000515.5(GH1):c.559G>A (p.Gly187Arg) SNV Uncertain significance 891322 GRCh37: 17:61994764-61994764
GRCh38: 17:63917404-63917404
21 GH1 , GH-LCR NM_000515.5(GH1):c.535G>C (p.Asp179His) SNV Uncertain significance 891323 GRCh37: 17:61994788-61994788
GRCh38: 17:63917428-63917428
22 GH1 , GH-LCR NM_000515.5(GH1):c.470G>A (p.Gly157Asp) SNV Uncertain significance 891324 GRCh37: 17:61994853-61994853
GRCh38: 17:63917493-63917493
23 GH1 , GH-LCR NM_000515.5(GH1):c.468T>C (p.Asp156=) SNV Uncertain significance 891325 GRCh37: 17:61994855-61994855
GRCh38: 17:63917495-63917495
24 GH1 , GH-LCR NM_000515.5(GH1):c.457A>G (p.Arg153Gly) SNV Uncertain significance 891326 GRCh37: 17:61994866-61994866
GRCh38: 17:63917506-63917506
25 GH1 , GH-LCR NM_000515.5(GH1):c.-27G>T SNV Uncertain significance 324461 rs754099689 GRCh37: 17:61996163-61996163
GRCh38: 17:63918803-63918803
26 GH1 , GH-LCR NM_000515.5(GH1):c.66A>G (p.Gln22=) SNV Uncertain significance 324458 rs754207595 GRCh37: 17:61995811-61995811
GRCh38: 17:63918451-63918451
27 GH1 , GH-LCR NM_000515.5(GH1):c.478C>T (p.Arg160Trp) SNV Uncertain significance 324451 rs377600944 GRCh37: 17:61994845-61994845
GRCh38: 17:63917485-63917485
28 GH1 , GH-LCR NM_000515.5(GH1):c.127G>A (p.Ala43Thr) SNV Uncertain significance 324457 rs140787052 GRCh37: 17:61995750-61995750
GRCh38: 17:63918390-63918390
29 GH1 , GH-LCR NM_000515.5(GH1):c.292-15G>A SNV Uncertain significance 324454 rs200503313 GRCh37: 17:61995299-61995299
GRCh38: 17:63917939-63917939
30 GH1 , GH-LCR NM_000515.5(GH1):c.363T>C (p.Ser121=) SNV Uncertain significance 892516 GRCh37: 17:61995213-61995213
GRCh38: 17:63917853-63917853
31 GH1 , GH-LCR NM_000515.5(GH1):c.352T>C (p.Phe118Leu) SNV Uncertain significance 892517 GRCh37: 17:61995224-61995224
GRCh38: 17:63917864-63917864
32 GH1 , GH-LCR NM_000515.5(GH1):c.350A>G (p.Gln117Arg) SNV Uncertain significance 892518 GRCh37: 17:61995226-61995226
GRCh38: 17:63917866-63917866
33 GH1 , GH-LCR NM_000515.5(GH1):c.328C>G (p.Gln110Glu) SNV Uncertain significance 892519 GRCh37: 17:61995248-61995248
GRCh38: 17:63917888-63917888
34 GH1 , GH-LCR NM_000515.5(GH1):c.150C>A (p.Ala50=) SNV Uncertain significance 195079 rs61735359 GRCh37: 17:61995727-61995727
GRCh38: 17:63918367-63918367
35 GH1 , GH-LCR NM_000515.5(GH1):c.597C>G (p.Val199=) SNV Uncertain significance 598615 rs142704768 GRCh37: 17:61994726-61994726
GRCh38: 17:63917366-63917366
36 GH1 , GH-LCR NM_000515.5(GH1):c.15C>T (p.Ser5=) SNV Uncertain significance 595591 rs111957225 GRCh37: 17:61995862-61995862
GRCh38: 17:63918502-63918502
37 GH1 , GH-LCR NM_000515.5(GH1):c.406G>A (p.Val136Ile) SNV Uncertain significance 197151 rs5388 GRCh37: 17:61995170-61995170
GRCh38: 17:63917810-63917810
38 GH1 , GH-LCR NM_000515.5(GH1):c.387C>T (p.Tyr129=) SNV Uncertain significance 197150 rs370785603 GRCh37: 17:61995189-61995189
GRCh38: 17:63917829-63917829
39 CEP85L and overlap with 1 gene(s) Duplication Uncertain significance 559395 GRCh37: 6:118823423-118880554
40 GH1 , GH-LCR NM_000515.5(GH1):c.-4T>G SNV Likely benign 324460 rs6173 GRCh37: 17:61996140-61996140
GRCh38: 17:63918780-63918780
41 GH1 , GH-LCR NM_000515.5(GH1):c.7A>G (p.Thr3Ala) SNV Likely benign 289503 rs2001345 GRCh37: 17:61996130-61996130
GRCh38: 17:63918770-63918770
42 GH1 , GH-LCR NM_000515.5(GH1):c.447G>A (p.Thr149=) SNV Likely benign 701921 rs41295043 GRCh37: 17:61995129-61995129
GRCh38: 17:63917769-63917769
43 GH1 , GH-LCR NM_000515.5(GH1):c.116C>T (p.Ala39Val) SNV Likely benign 284727 rs151263636 GRCh37: 17:61995761-61995761
GRCh38: 17:63918401-63918401
44 GH1 , GH-LCR NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) SNV Likely benign 195080 rs61735357 GRCh37: 17:61995725-61995725
GRCh38: 17:63918365-63918365
45 GH1 , GH-LCR NM_000515.5(GH1):c.-47A>G SNV Likely benign 891386 GRCh37: 17:61996183-61996183
GRCh38: 17:63918823-63918823
46 GH1 , GH-LCR NM_000515.5(GH1):c.-60G>C SNV Benign 324462 rs6175 GRCh37: 17:61996196-61996196
GRCh38: 17:63918836-63918836
47 GH1 , GH-LCR NM_000515.5(GH1):c.-38A>C SNV Benign 891384 GRCh37: 17:61996174-61996174
GRCh38: 17:63918814-63918814

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:

# Super pathways Score Top Affiliating Genes
Show member pathways

GO Terms for Growth Hormone Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 cell maturation GO:0048469 9.48 GHRHR BTK
2 pituitary gland development GO:0021983 9.46 SOX3 HESX1
3 response to food GO:0032094 9.43 GHSR GHRH
4 positive regulation of growth GO:0045927 9.4 GHSR GH1
5 positive regulation of hormone secretion GO:0046887 9.37 GHRHR GHRH
6 positive regulation of growth hormone secretion GO:0060124 9.32 GHRHR GHRH
7 adenohypophysis development GO:0021984 9.26 GHRHR GHRH
8 positive regulation of multicellular organism growth GO:0040018 9.26 GHSR GHRHR GHRH GH1
9 growth hormone secretion GO:0030252 9.16 GHSR GHRH
10 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.92 GHSR GHRHR GHRH GH1

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 8.96 GHSR GHRHR
2 growth hormone-releasing hormone receptor activity GO:0016520 8.62 GHSR GHRHR

Sources for Growth Hormone Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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