MCID: GRW007
MIFTS: 46

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 52 36 29 54 6
Isolated Somatotropin Deficiency 71
Somatotropin Deficiency 71

Classifications:



External Ids:

KEGG 36 H00254
UMLS 71 C0271561 C3714796

Summaries for Growth Hormone Deficiency

NIH Rare Diseases : 52 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 ib and isolated growth hormone deficiency, type ii. An important gene associated with Growth Hormone Deficiency is ADNP (Activity Dependent Neuroprotector Homeobox). The drugs Mecasermin and Zinc have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes.

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 : 74 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 663)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ib 34.6 GHRHR GH1
2 isolated growth hormone deficiency, type ii 34.4 HESX1 GHRHR GH1
3 isolated growth hormone deficiency type iii 33.5 SOX3 HESX1 GHRHR GH1 BTK
4 septooptic dysplasia 33.1 SOX3 HESX1 GHRHR GH1
5 dwarfism 30.8 GHRHR GH1
6 hypopituitarism 30.7 SOX3 HESX1 GHRHR GH1
7 isolated growth hormone deficiency 30.7 SOX3 RNPC3 LOC108004536 LOC105980078 HESX1 GHSR
8 acromegaly 30.6 GHSR GHRHR GH1
9 pituitary hypoplasia 30.3 SOX3 HESX1 GHRHR GH1
10 pituitary adenoma 30.3 GHSR GHRHR GH1
11 pituitary gland disease 30.1 SOX3 HESX1 GHRHR GH1
12 pituitary hormone deficiency, combined, 2 30.1 SOX3 HESX1 GHRHR GH1
13 hypothyroidism 30.0 SOX3 HESX1 GH1 ADNP
14 pituitary adenoma, prolactin-secreting 30.0 GHSR GHRHR GH1
15 laron syndrome 29.9 GHRHR GH1
16 pituitary stalk interruption syndrome 29.9 SOX3 HESX1 GHRHR GH1
17 isolated growth hormone deficiency, type ia 13.0
18 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.9
19 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.9
20 isolated growth hormone deficiency, type iv 12.9
21 isolated growth hormone deficiency, type v 12.8
22 growth hormone deficiency, isolated partial 12.7
23 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.6
24 mental retardation, x-linked, with panhypopituitarism 12.4
25 stratton-parker syndrome 12.0
26 growth hormone insensitivity, partial 11.7
27 empty sella syndrome 11.6
28 kearns-sayre syndrome 11.5
29 pallister-hall syndrome 11.4
30 microphthalmia, syndromic 5 11.4
31 ritscher-schinzel syndrome 1 11.4
32 hypotonia-cystinuria syndrome 11.3
33 culler-jones syndrome 11.3
34 microphthalmia, syndromic 3 11.1
35 growth hormone insensitivity with immunodeficiency 11.1
36 hypothyroidism, central, with testicular enlargement 11.1
37 noonan syndrome-like disorder with loose anagen hair 1 11.1
38 frias syndrome 11.1
39 schaaf-yang syndrome 11.1
40 vertebral anomalies and variable endocrine and t-cell dysfunction 11.1
41 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.1
42 distal chromosome 18q deletion syndrome 11.1
43 insulin-like growth factor i 10.9
44 hypoglycemia 10.8
45 gonadal dysgenesis 10.5
46 turner syndrome 10.5
47 hypogonadism 10.5
48 craniopharyngioma 10.4
49 diabetes insipidus 10.4
50 precocious puberty 10.4

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 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecasermin Approved, Investigational Phase 3 68562-41-4
2
Zinc Approved, Investigational Phase 3 7440-66-6 32051
3
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
4
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
5
Clonidine Approved Phase 3 4205-90-7 2803
6
tannic acid Approved Phase 3 1401-55-4
7
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
8
Topiramate Approved Phase 3 97240-79-4 5284627
9
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
11
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
12
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
13 Ergocalciferols Phase 3
14 Calcium, Dietary Phase 3
15 Calciferol Phase 3
16 Vitamin D2 Phase 3
17 Pharmaceutical Solutions Phase 3
18 Estrogens Phase 2, Phase 3
19 Neurotransmitter Agents Phase 3
20 Secretagogues Phase 3
21 Antineoplastic Agents, Hormonal Phase 2, Phase 3
22 Estrogen Antagonists Phase 2, Phase 3
23 Aromatase Inhibitors Phase 2, Phase 3
24 Estrogen Receptor Antagonists Phase 2, Phase 3
25 Adrenergic alpha-Agonists Phase 3
26 Antihypertensive Agents Phase 3
27 Sympatholytics Phase 3
28 Adrenergic Agents Phase 3
29 Adrenergic Agonists Phase 3
30 Analgesics Phase 3
31 Mitogens Phase 3
32 Immunoglobulins Phase 3
33 Antibodies Phase 3
34 Hypoglycemic Agents Phase 3
35 Anticonvulsants Phase 3
36
Calcium Nutraceutical Phase 3 7440-70-2 271
37
Arginine Investigational, Nutraceutical Phase 3 74-79-3 6322
38
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
39
Cetrorelix Approved, Investigational Phase 2 120287-85-6 16129715 25074887
40
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
41
Polyestradiol phosphate Approved Phase 2 28014-46-2
42
Metformin Approved Phase 2 657-24-9 14219 4091
43
Somatostatin Approved, Investigational Phase 1, Phase 2 38916-34-6, 51110-01-1 53481605
44
Pasireotide Approved Phase 1, Phase 2 396091-73-9 9941444
45
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
46
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2 53-43-0 9860744
47
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
49
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
50 Growth Hormone-Releasing Hormone Phase 2

Interventional clinical trials:

(show top 50) (show all 231)
# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
2 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
3 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
4 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
5 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
6 Effects of Growth Hormone on Body Fat Distribution, Insulin Action and Cardiovascular Risk Factors in Middle-Aged Men With Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
7 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®)
8 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
9 An Open, Multi-centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin® SimpleXx® in Children With GH Deficiency Completed NCT00567385 Phase 4 somatropin
10 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
11 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
12 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
13 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
14 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
15 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
16 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
17 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
18 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
19 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
20 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
21 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
22 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® )
23 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4 growth hormone
24 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
25 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)
26 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in GHD Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
27 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
28 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
29 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
30 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
31 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
32 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)
33 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
34 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
35 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
36 A Phase III, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Multicenter Study to Assess Efficacy and Safety of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency. Completed NCT00294619 Phase 3 growth hormone
37 fliGHt: A Multicenter, Phase 3, Open-Label, 26-Week Trial Investigating the Safety, Tolerability and Efficacy of TransCon hGH Administered Once Weekly in Children With GHD Completed NCT03305016 Phase 3 TransCon hGH
38 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
39 Effect of Two Years of Treatment With Norditropin® SimpleXx® on Bone Mineral Density in Young Adults With Childhood-Onset Growth Hormone Deficiency Completed NCT00184678 Phase 3 somatropin
40 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
41 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
42 A Phase III, Open-label, Uncontrolled, Multicentre, Rollover Study to Assess Safety and Efficacy of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
43 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
44 Comparison of Somavaratan (VRS-317), a Long-acting Human Growth Hormone, to Daily rhGH in a Phase 3, Randomized, One-year, Open-label, Multi-center, Non-inferiority Trial in Pre-pubertal Children With Growth Hormone Deficiency. Completed NCT02339090 Phase 3 somavaratan;Daily rhGH
45 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
46 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
47 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
48 Usability and Acceptability of Stylomax® in Growth Hormone Deficient Children. Completed NCT00476385 Phase 3 somatropine
49 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
50 Norditropin® and Norditropin® Cartridges: An Open-Label, Randomized, Comparative Safety and Efficacy Trial in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;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:

40
Pituitary, Bone, Testes, Brain, Heart, Thyroid, Liver

Publications for Growth Hormone Deficiency

Articles related to Growth Hormone Deficiency:

(show top 50) (show all 4356)
# Title Authors PMID Year
1
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. 54 61
20372873 2010
2
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
3
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. 54 61
20190537 2010
4
Growth hormone and bone. 61 54
19770650 2009
5
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. 61 54
19789204 2009
6
Reassessment of the growth hormone status in young adults with childhood-onset growth hormone deficiency: reappraisal of insulin tolerance testing. 61 54
19837937 2009
7
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
8
Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. 54 61
20020582 2009
9
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
10
The role of insulin like growth factor (IGF)-1 and IGF-binding protein-3 in diagnosis of Growth Hormone Deficiency in short stature children. 61 54
19381505 2009
11
IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function. 54 61
19117781 2009
12
Diagnosis of growth hormone deficiency in adults: provocative testing with GHRP6 in comparison to the insulin tolerance test. 61 54
19006049 2009
13
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
14
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. 61 54
19153504 2009
15
Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. 54 61
19209235 2009
16
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. 61 54
19571558 2009
17
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
18
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
19
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
20
Diagnosing neuroendocrine dysfunction in patients after aneurysmal subarachnoid hemorrhage in clinical practice - does basal hormone screening make sense? 61 54
18589891 2008
21
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency. 61 54
18160466 2008
22
Phenotype and course of Hutchinson-Gilford progeria syndrome. 61 54
18256394 2008
23
The effect of growth hormone treatment on serum bone alkaline phosphatase in growth hormone deficient children. 54 61
19239787 2008
24
Insulin-like growth factor-1 in plasma and brain: regulation in health and disease. 54 61
17981530 2008
25
Fracture incidence in GH-deficient patients on complete hormone replacement including GH. 61 54
17725379 2007
26
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
27
Circadian pattern of prolactin secretion in children with growth hormone deficiency and congenital organic lesions in the hypothalamic-pituitary region. 54 61
18063946 2007
28
Diagnostic strategy for growth hormone deficiency: relevance of IGF-1 determination as a screening test. 61 54
17991453 2007
29
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. 61 54
17785368 2007
30
Diagnosis and growth hormone (GH) therapy in children with GH deficiency: experience in King Chulalongkorn Memorial Hospital, Thailand. 61 54
18041422 2007
31
The role of recombinant insulin-like growth factor I in the treatment of the short child. 54 61
17630612 2007
32
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
33
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism. 61 54
17642419 2007
34
Insulin like growth factors and growth hormone deficiency. 54 61
17536135 2007
35
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. 54 61
17307377 2007
36
Characterization of the IGF system in 15 patients with Alström syndrome. 54 61
17223998 2007
37
IGF-I measurements in the monitoring of GH therapy. 61 54
17410471 2007
38
Isolated growth hormone deficiency. 54 61
17965963 2007
39
IGF-I measurements in the diagnosis of adult growth hormone deficiency. 54 61
17429593 2007
40
IGF-I assays: current assay methodologies and their limitations. 61 54
17429590 2007
41
Approach to the evaluation of the GH/IGF-axis in patients with pituitary disease: which test to order. 61 54
17429594 2007
42
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 54 61
17526936 2006
43
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
44
Growth hormone deficiency, low levels of adiponectin, and unfavorable plasma lipid and lipoproteins. 61 54
16939741 2006
45
Serum ghrelin and leptin levels in adult growth hormone deficiency syndrome. 54 61
16740431 2006
46
Hypopituitarism following severe traumatic brain injury. 54 61
16868891 2006
47
Characteristic features of 20 patients with Sheehan's syndrome. 54 61
16785150 2006
48
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. 54 61
16759033 2006
49
GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children. 54 61
17073157 2006
50
Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature. 61 54
16582564 2006

Variations for Growth Hormone Deficiency

ClinVar genetic disease variations for Growth Hormone Deficiency:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)SNV Pathogenic 279598 rs886041116 20:49509063-49509063 20:50892526-50892526
2 GH1 NM_000515.5(GH1):c.16C>A (p.Arg6=)SNV Conflicting interpretations of pathogenicity 324459 rs140576665 17:61995861-61995861 17:63918501-63918501
3 GH1 NM_000515.5(GH1):c.546A>G (p.Leu182=)SNV Conflicting interpretations of pathogenicity 703573 17:61994777-61994777 17:63917417-63917417
4 GH1 NM_000515.5(GH1):c.15C>T (p.Ser5=)SNV Conflicting interpretations of pathogenicity 595591 rs111957225 17:61995862-61995862 17:63918502-63918502
5 GH1 NM_000515.5(GH1):c.150C>A (p.Ala50=)SNV Conflicting interpretations of pathogenicity 195079 rs61735359 17:61995727-61995727 17:63918367-63918367
6 GH1 NM_000515.5(GH1):c.406G>A (p.Val136Ile)SNV Conflicting interpretations of pathogenicity 197151 rs5388 17:61995170-61995170 17:63917810-63917810
7 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
8 CEP85L , PLN duplication Uncertain significance 559395 6:118823423-118880554
9 GH1 NM_000515.5(GH1):c.387C>T (p.Tyr129=)SNV Uncertain significance 197150 rs370785603 17:61995189-61995189 17:63917829-63917829
10 GH1 NM_000515.5(GH1):c.-27G>TSNV Uncertain significance 324461 rs754099689 17:61996163-61996163 17:63918803-63918803
11 GH1 NM_000515.5(GH1):c.292-15G>ASNV Uncertain significance 324454 rs200503313 17:61995299-61995299 17:63917939-63917939
12 GH1 NM_000515.5(GH1):c.134G>A (p.Arg45His)SNV Uncertain significance 324456 rs71640274 17:61995743-61995743 17:63918383-63918383
13 GH1 NM_000515.5(GH1):c.66A>G (p.Gln22=)SNV Uncertain significance 324458 rs754207595 17:61995811-61995811 17:63918451-63918451
14 GH1 NM_000515.5(GH1):c.291+14T>GSNV Uncertain significance 889154 17:61995363-61995363 17:63918003-63918003
15 GH1 NM_000515.5(GH1):c.171+6C>TSNV Uncertain significance 889156 17:61995700-61995700 17:63918340-63918340
16 GH1 NM_000515.5(GH1):c.597C>G (p.Val199=)SNV Uncertain significance 598615 rs142704768 17:61994726-61994726 17:63917366-63917366
17 GH1 NM_000515.5(GH1):c.-40C>TSNV Uncertain significance 891385 17:61996176-61996176 17:63918816-63918816
18 NSMCE2 NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu)SNV Uncertain significance 873019
19 GH1 NM_000515.5(GH1):c.561G>A (p.Gly187=)SNV Uncertain significance 889781 17:61994762-61994762 17:63917402-63917402
20 GH1 NM_000515.5(GH1):c.559G>A (p.Gly187Arg)SNV Uncertain significance 891322 17:61994764-61994764 17:63917404-63917404
21 GH1 NM_000515.5(GH1):c.535G>C (p.Asp179His)SNV Uncertain significance 891323 17:61994788-61994788 17:63917428-63917428
22 GH1 NM_000515.5(GH1):c.470G>A (p.Gly157Asp)SNV Uncertain significance 891324 17:61994853-61994853 17:63917493-63917493
23 GH1 NM_000515.5(GH1):c.468T>C (p.Asp156=)SNV Uncertain significance 891325 17:61994855-61994855 17:63917495-63917495
24 GH1 NM_000515.5(GH1):c.457A>G (p.Arg153Gly)SNV Uncertain significance 891326 17:61994866-61994866 17:63917506-63917506
25 GH1 NM_000515.5(GH1):c.363T>C (p.Ser121=)SNV Uncertain significance 892516 17:61995213-61995213 17:63917853-63917853
26 GH1 NM_000515.5(GH1):c.352T>C (p.Phe118Leu)SNV Uncertain significance 892517 17:61995224-61995224 17:63917864-63917864
27 GH1 NM_000515.5(GH1):c.350A>G (p.Gln117Arg)SNV Uncertain significance 892518 17:61995226-61995226 17:63917866-63917866
28 GH1 NM_000515.5(GH1):c.328C>G (p.Gln110Glu)SNV Uncertain significance 892519 17:61995248-61995248 17:63917888-63917888
29 GH1 NM_000515.5(GH1):c.246G>C (p.Glu82Asp)SNV Uncertain significance 889155 17:61995422-61995422 17:63918062-63918062
30 GH1 NM_000515.5(GH1):c.164A>G (p.Gln55Arg)SNV Uncertain significance 889157 17:61995713-61995713 17:63918353-63918353
31 GH1 NM_000515.5(GH1):c.124C>T (p.Arg42Cys)SNV Uncertain significance 889834 17:61995753-61995753 17:63918393-63918393
32 GH1 NM_000515.5(GH1):c.115G>A (p.Ala39Thr)SNV Uncertain significance 889835 17:61995762-61995762 17:63918402-63918402
33 GH1 NM_000515.5(GH1):c.84A>G (p.Pro28=)SNV Uncertain significance 889836 17:61995793-61995793 17:63918433-63918433
34 GH1 NM_000515.5(GH1):c.55C>T (p.Pro19Ser)SNV Uncertain significance 889837 17:61995822-61995822 17:63918462-63918462
35 GH1 NM_000515.5(GH1):c.21G>A (p.Thr7=)SNV Uncertain significance 889838 17:61995856-61995856 17:63918496-63918496
36 GH1 NM_000515.5(GH1):c.291+8G>TSNV Uncertain significance 324455 rs367960425 17:61995369-61995369 17:63918009-63918009
37 GH1 NM_000515.5(GH1):c.127G>A (p.Ala43Thr)SNV Uncertain significance 324457 rs140787052 17:61995750-61995750 17:63918390-63918390
38 GH1 NM_000515.5(GH1):c.563T>C (p.Leu188Pro)SNV Uncertain significance 324450 rs759813905 17:61994760-61994760 17:63917400-63917400
39 GH1 NM_000515.5(GH1):c.478C>T (p.Arg160Trp)SNV Uncertain significance 324451 rs377600944 17:61994845-61994845 17:63917485-63917485
40 GH1 NM_000515.5(GH1):c.456+12G>ASNV Uncertain significance 324452 rs61762498 17:61995108-61995108 17:63917748-63917748
41 GH1 NM_000515.5(GH1):c.-47A>GSNV Likely benign 891386 17:61996183-61996183 17:63918823-63918823
42 GH1 NM_000515.5(GH1):c.447G>A (p.Thr149=)SNV Benign/Likely benign 701921 17:61995129-61995129 17:63917769-63917769
43 GH1 NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)SNV Benign/Likely benign 195080 rs61735357 17:61995725-61995725 17:63918365-63918365
44 GH1 NM_000515.5(GH1):c.116C>T (p.Ala39Val)SNV Benign/Likely benign 284727 rs151263636 17:61995761-61995761 17:63918401-63918401
45 GH1 NM_000515.5(GH1):c.7A>G (p.Thr3Ala)SNV Benign/Likely benign 289503 rs2001345 17:61996130-61996130 17:63918770-63918770
46 GH1 NM_000515.5(GH1):c.-4T>GSNV Benign/Likely benign 324460 rs6173 17:61996140-61996140 17:63918780-63918780
47 GH1 NM_000515.5(GH1):c.-60G>CSNV Benign 324462 rs6175 17:61996196-61996196 17:63918836-63918836
48 GH1 NM_000515.5(GH1):c.-38A>CSNV Benign 891384 17:61996174-61996174 17:63918814-63918814

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

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 9.32 GHRHR BTK
2 pituitary gland development GO:0021983 9.26 SOX3 HESX1
3 positive regulation of growth GO:0045927 9.16 GHSR GH1
4 positive regulation of multicellular organism growth GO:0040018 9.13 GHSR GHRHR GH1
5 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 GHSR GHRHR 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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