MCID: ISL003
MIFTS: 57

Isolated Growth Hormone Deficiency

Categories: Rare diseases, Genetic diseases, Endocrine diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency

MalaCards integrated aliases for Isolated Growth Hormone Deficiency:

Name: Isolated Growth Hormone Deficiency 12 49 24 36 14
Non-Acquired Isolated Growth Hormone Deficiency 12 49 55
Congenital Isolated Growth Hormone Deficiency 12 49 55
Congenital Isolated Gh Deficiency 12 49 55
Congenital Ighd 12 49 55
Isolated Somatotropin Deficiency 24 69
Familial Isolated Growth Hormone Deficiency 12
Isolated Somatotropin Deficiency Disorder 24
Isolated Human Growth Hormone Deficiency 24
Dwarfism, Growth Hormone Deficiency 24
Growth Hormone Deficiency Dwarfism 24
Isolated Hgh Deficiency 24
Isolated Gh Deficiency 24
Dwarfism, Pituitary 24
Dwarfism Pituitary 51
Pituitary Dwarfism 69
Ighd 12

Characteristics:

Orphanet epidemiological data:

55
non-acquired isolated growth hormone deficiency
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal;

Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060870
ICD10 32 E23.0
Orphanet 55 ORPHA631
UMLS via Orphanet 70 C0013338 C0271561
ICD10 via Orphanet 33 E23.0
KEGG 36 H02035
SNOMED-CT via HPO 65 123983008 237836003

Summaries for Isolated Growth Hormone Deficiency

NIH Rare Diseases : 49 Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone without other hormonal problems. Growth hormone is a protein necessary for normal growth of the bone and body tissues. Because people with this condition don't have enough of this hormone, they have short stature, which is noticeable from early childhood. There are basically four different types of isolated growth hormone deficiency, which are classified by the severity of the symptoms, the cause and the inheritance: isolated growth hormone deficiency type IA,  isolated growth hormone deficiency type IB, isolated growth hormone deficiency type II and isolated growth hormone deficiency type III. Treatment involves giving growth hormone to those who are affected. Last updated: 7/20/2016

MalaCards based summary : Isolated Growth Hormone Deficiency, also known as non-acquired isolated growth hormone deficiency, is related to isolated growth hormone deficiency, type iii and isolated growth hormone deficiency, type ib, and has symptoms including anterior hypopituitarism, delayed skeletal maturation and short stature. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are Growth hormone receptor signaling and Endochondral Ossification. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Disease Ontology : 12 A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.

Genetics Home Reference : 24 Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.

Related Diseases for Isolated Growth Hormone Deficiency

Diseases related to Isolated Growth Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type iii 34.3 BTK HESX1 SOX3
2 isolated growth hormone deficiency, type ib 33.3 GH1 GHR GHRH GHRHR IGF1
3 isolated growth hormone deficiency, type ii 32.6 GH1 GHR GHRH GHRHR HESX1 IGF1
4 laron syndrome 29.7 GH1 GHR IGF1
5 hyperprolactinemia 29.5 GH1 GHRH IGF1
6 growth hormone deficiency 29.5 BTK GH1 GHRH GHRHR HESX1 IGF1
7 insulin-like growth factor i 29.3 GH1 GHR GHRH IGF1
8 dwarfism 29.2 GH1 GHR GHRH GHRHR RNU4ATAC
9 bulimia nervosa 2 29.1 GH1 GHR GHRH IGF1
10 acromegaly 29.1 GH1 GHR GHRH IGF1
11 body mass index quantitative trait locus 11 28.9 GH1 GHR GHRH IGF1
12 combined pituitary hormone deficiency 28.2 HESX1 LHX3 LHX4 POU1F1 PROP1
13 septooptic dysplasia 27.6 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
14 pituitary hormone deficiency, combined, 2 26.7 GH1 GHR HESX1 IGF1 LHX3 LHX4
15 hypopituitarism 26.4 GH1 GHRH HESX1 IGF1 LHX3 LHX4
16 isolated growth hormone deficiency, type ia 12.7
17 mental retardation, x-linked, with panhypopituitarism 12.0
18 hypothalamic disease 10.3 GH1 GHRH
19 gigantism 10.3 GH1 GHRH
20 non-functioning pituitary adenoma 10.3 GH1 GHR
21 functioning pituitary adenoma 10.2 GH1 GHR
22 pseudohypoparathyroidism, type ia 10.2 GH1 IGF1
23 pituitary adenoma 1, multiple types 10.2 GH1 IGF1
24 chromophobe adenoma 10.2 GH1 GHRH
25 carcinoid syndrome 10.1 GHRH IGF1
26 blood group, i system 10.1
27 central nervous system organ benign neoplasm 10.0 HESX1 IGF1
28 acromesomelic dysplasia, maroteaux type 10.0 GHR IGF1
29 agammaglobulinemia, x-linked 10.0
30 agammaglobulinemia 10.0
31 hypoglycemia 10.0
32 pituitary-dependent cushing's disease 10.0 GHR GHRH
33 endocrine pancreas disease 9.9 GHRH IGF1
34 craniopharyngioma 9.9 IGF1 POU1F1 PROP1
35 turner syndrome 9.9 GH1 GHR IGF1
36 aging 9.9
37 retinitis 9.9
38 neonatal thyrotoxicosis 9.9 LHX3 PROP1
39 thyroiditis 9.8
40 pituitary adenoma 9.8 GH1 GHRH IGF1 POU1F1
41 prader-willi syndrome 9.8 GH1 GHR IGF1
42 hypothyroidism, congenital, nongoitrous, 4 9.8 GH1 IGF1 POU1F1 PROP1
43 pituitary tumors 9.8 GH1 IGF1 POU1F1 PROP1
44 endocrine organ benign neoplasm 9.7 GHRH IGF1
45 hyperpituitarism 9.7 GH1 GHR GHRH IGF1
46 fibrosis of extraocular muscles, congenital, 1 9.7
47 optic nerve hypoplasia, bilateral 9.7
48 cystic fibrosis 9.7
49 mulibrey nanism 9.7
50 aarskog-scott syndrome 9.7

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



Diseases related to Isolated Growth Hormone Deficiency

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency

Human phenotypes related to Isolated Growth Hormone Deficiency:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anterior hypopituitarism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000830
2 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.07 GHR GHRH GHRHR HESX1 IGF1 LHX3
2 growth/size/body region MP:0005378 10.02 BTK GHR GHRH GHRHR HESX1 IGF1
3 homeostasis/metabolism MP:0005376 9.96 BTK GHR GHRH GHRHR IGF1 LHX3
4 mortality/aging MP:0010768 9.81 LHX3 LHX4 POU1F1 PROP1 SOX3 BTK
5 nervous system MP:0003631 9.65 GHR GHRH GHRHR HESX1 IGF1 LHX3
6 reproductive system MP:0005389 9.23 IGF1 LHX3 POU1F1 PROP1 SOX3 GHR

Drugs & Therapeutics for Isolated Growth Hormone Deficiency

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

(show top 50) (show all 173)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
2 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Imatinib Mesylate Phase 4 123596
5 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
6 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
7 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
9 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1
10
Zinc Approved, Investigational Phase 3,Early Phase 1 7440-66-6 32051 23994
11
Clonidine Approved Phase 3 4205-90-7 2803
12
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
13
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
14
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
15
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
16
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
17
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
18
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
20
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
21
Vinblastine Approved Phase 2, Phase 3 865-21-4 241903 13342
22
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
23 tannic acid Approved, Nutraceutical Phase 3,Phase 2
24
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
25
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
26 Hypoglycemic Agents Phase 3,Early Phase 1
27 Liver Extracts Phase 3
28 Anti-Inflammatory Agents Phase 2, Phase 3,Early Phase 1
29 Antibodies Phase 3,Phase 2
30 Immunoglobulins Phase 3,Phase 2
31 Estrogens Phase 3,Phase 2
32 Adrenergic Agents Phase 3,Phase 2
33 Adrenergic Agonists Phase 3
34 Adrenergic alpha-2 Receptor Agonists Phase 3
35 Adrenergic alpha-Agonists Phase 3
36 Analgesics Phase 3,Phase 2
37 Antihypertensive Agents Phase 3
38 Autonomic Agents Phase 3
39 Neurotransmitter Agents Phase 3,Phase 2
40 Peripheral Nervous System Agents Phase 3,Phase 2
41 Sympatholytics Phase 3
42 Antineoplastic Agents, Hormonal Phase 2, Phase 3, Phase 1
43 Aromatase Inhibitors Phase 2, Phase 3
44 Estrogen Antagonists Phase 2, Phase 3
45 Steroid Synthesis Inhibitors Phase 2, Phase 3
46 Analgesics, Non-Narcotic Phase 2, Phase 3
47 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
48 6-Mercaptopurine Phase 2, Phase 3
49 Anti-Infective Agents Phase 2, Phase 3
50 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 249)

# Name Status NCT ID Phase Drugs
1 Growth Hormone and Brain Functioning After Traumatic Brain Injury Unknown status NCT01699308 Phase 4 Genotropin (somatropin)
2 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
3 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
4 An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
5 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
6 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
7 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Completed NCT02311894 Phase 4 Somatropin
8 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
9 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
10 IGF1 Generation Test Completed NCT00145457 Phase 4
11 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
12 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
13 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
14 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Human Growth Hormone;Placebo
15 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
16 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
17 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
18 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
19 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
20 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
21 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
22 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
23 Easypod United States User Trial Completed NCT00689260 Phase 4
24 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
25 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
26 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Patients Completed NCT00097513 Phase 4
27 Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study) Completed NCT00710307 Phase 4
28 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
29 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4 growth hormone
30 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
31 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
32 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
33 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
34 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
35 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
36 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
37 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
38 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
39 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
40 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
41 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
42 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
43 Extension Study on Safety of Long-Term Growth Hormone Replacement in Adult Patients With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
44 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
45 Treatment of Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
46 Treatment of Adults With Growth Hormone Deficiency Completed NCT00294619 Phase 3 growth hormone
47 Cool.Click™ Adolescent Transition Study: Study of Saizen® in Subjects With Childhood-onset Growth Hormone Deficiency Completed NCT00109733 Phase 3
48 Evaluation of Efficacy and Safety of Recombinant Somatroipn in Patients With Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
49 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
50 A Study of Zomacton in Children With Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton

Search NIH Clinical Center for Isolated Growth Hormone Deficiency

Genetic Tests for Isolated Growth Hormone Deficiency

Anatomical Context for Isolated Growth Hormone Deficiency

MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

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

Publications for Isolated Growth Hormone Deficiency

Articles related to Isolated Growth Hormone Deficiency:

(show top 50) (show all 203)
# Title Authors Year
1
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
2
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ( 29147571 )
2017
3
Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect on retina. ( 29082892 )
2017
4
Choroidal thickness measurements in children with isolated growth hormone deficiency. ( 28912516 )
2017
5
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
6
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family. ( 28626954 )
2017
7
Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes. ( 26888628 )
2016
8
Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. ( 27114065 )
2016
9
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement. ( 27487097 )
2016
10
Abnormal vascular and neural retinal morphology in congenital lifetime isolated growth hormone deficiency. ( 27552668 )
2016
11
Rescue of Isolated Growth Hormone Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. ( 27253996 )
2016
12
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency. ( 26797872 )
2016
13
Revaluation of the clinical and metabolic behavior of children with isolated growth hormone deficiency during GH treatment according to newly proposed note 39 of the Italian Medicines Agency (AIFA). ( 26015317 )
2015
14
Growth, development, puberty and adult height before and during treatment in children with congenital isolated growth hormone deficiency. ( 26077773 )
2015
15
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review. ( 26481254 )
2015
16
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. ( 26612202 )
2015
17
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. ( 24450934 )
2014
18
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. ( 24803154 )
2014
19
Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children. ( 25252748 )
2014
20
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. ( 25116472 )
2014
21
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. ( 25315032 )
2014
22
Hearing Status in Adult Individuals with Lifetime, Untreated Isolated Growth Hormone Deficiency. ( 24398366 )
2014
23
The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity. ( 25041402 )
2014
24
Corneal properties in children with congenital isolated growth hormone deficiency. ( 24790877 )
2014
25
Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency. ( 25541890 )
2014
26
Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation with Hypoglycaemia. ( 25226297 )
2014
27
Children with isolated growth hormone deficiency: Empty sella versus normal sella. ( 24019611 )
2013
28
50 Years ago in The Journal of Pediatrics: Hypoglycemia, growth retardation, and probable isolated growth hormone deficiency in a 1-year-old child. ( 24160654 )
2013
29
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. ( 23602557 )
2013
30
Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). ( 23436191 )
2013
31
Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. ( 24497717 )
2013
32
Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II. ( 24280736 )
2013
33
Insulin sensitivity and I^-cell function in adults with lifetime, untreated isolated growth hormone deficiency. ( 22170707 )
2012
34
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). ( 22016154 )
2012
35
Isolated growth hormone deficiency type 2: from gene to therapy. ( 23182825 )
2012
36
Effects of depot growth hormone replacement on thyroid function and volume in adults with congenital isolated growth hormone deficiency. ( 21422802 )
2012
37
Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus. ( 23295298 )
2012
38
Long-term mortality after recombinant growth hormone treatment for isolated growth hormone deficiency or childhood short stature: preliminary report of the French SAGhE study. ( 22238382 )
2012
39
Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. ( 21933221 )
2012
40
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. ( 23565410 )
2012
41
A novel GH1 mutation in a family with isolated growth hormone deficiency type II. ( 22188748 )
2012
42
Is the growth outcome of children with idiopathic short stature and isolated growth hormone deficiency following treatment with growth hormone and a luteinizing hormone-releasing hormone agonist superior to that obtained by GH alone? ( 23155689 )
2012
43
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). ( 22139958 )
2012
44
Head circumference in untreated and IGF-I treated patients with Laron syndrome: comparison with untreated and hGH-treated children with isolated growth hormone deficiency. ( 22414926 )
2012
45
Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies. ( 22788856 )
2012
46
Response to growth hormone treatment in isolated growth hormone deficiency versus multiple pituitary hormone deficiency. ( 21778748 )
2011
47
Correlation of fl/d3 polymorphism of growth hormone receptor with the first- and second-year response to recombinant human growth hormone therapy in pre-pubertal Greek children with idiopathic isolated growth hormone deficiency. ( 20855935 )
2011
48
Metabolic impact of adult-onset, isolated, growth hormone deficiency (AOiGHD) due to destruction of pituitary somatotropes. ( 21283519 )
2011
49
Measurement of amino-terminal propeptide of C-type natriuretic peptide in patients with idiopathic short stature or isolated growth hormone deficiency. ( 22308853 )
2011
50
Cephalometric features in isolated growth hormone deficiency. ( 21341997 )
2011

Variations for Isolated Growth Hormone Deficiency

Expression for Isolated Growth Hormone Deficiency

Search GEO for disease gene expression data for Isolated Growth Hormone Deficiency.

Pathways for Isolated Growth Hormone Deficiency

Pathways related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.77 GH1 GHR
2 10.61 GH1 GHR IGF1
3 10.16 BTK GH1 GHRH IGF1

GO Terms for Isolated Growth Hormone Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.13 LHX3 POU1F1 PROP1
2 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.92 IGF1 LHX3 LHX4 PROP1
2 positive regulation of cell proliferation GO:0008284 9.92 GHRH GHRHR IGF1 POU1F1
3 animal organ morphogenesis GO:0009887 9.75 LHX3 LHX4 PROP1
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 GH1 GHR IGF1
5 placenta development GO:0001890 9.65 LHX3 LHX4
6 dorsal/ventral pattern formation GO:0009953 9.64 LHX3 PROP1
7 cell maturation GO:0048469 9.64 BTK GHRHR
8 cAMP-mediated signaling GO:0019933 9.61 GHRH GHRHR
9 regulation of multicellular organism growth GO:0040014 9.61 GHR IGF1
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.61 GH1 GHR IGF1
11 response to food GO:0032094 9.6 GHR GHRH
12 motor neuron axon guidance GO:0008045 9.59 LHX3 LHX4
13 positive regulation of JAK-STAT cascade GO:0046427 9.58 GH1 GHR
14 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.57 GH1 GHR
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.56 GHR IGF1
16 pituitary gland development GO:0021983 9.56 HESX1 LHX3 POU1F1 SOX3
17 determination of adult lifespan GO:0008340 9.55 GHRHR POU1F1
18 positive regulation of hormone secretion GO:0046887 9.54 GHRH GHRHR
19 positive regulation of growth hormone secretion GO:0060124 9.51 GHRH GHRHR
20 growth hormone receptor signaling pathway GO:0060396 9.49 GH1 GHR
21 growth hormone secretion GO:0030252 9.48 GHRH GHRHR
22 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.46 GHRHR POU1F1
23 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GH1 GHRH GHRHR IGF1
24 somatotropin secreting cell differentiation GO:0060126 9.4 POU1F1 PROP1
25 somatotropin secreting cell development GO:0060133 9.37 GHRHR POU1F1
26 medial motor column neuron differentiation GO:0021526 9.32 LHX3 LHX4
27 adenohypophysis development GO:0021984 9.26 GHRH GHRHR POU1F1 PROP1
28 positive regulation of multicellular organism growth GO:0040018 9.02 GH1 GHR GHRH GHRHR POU1F1
29 regulation of transcription, DNA-templated GO:0006355 10.18 BTK HESX1 LHX3 LHX4 POU1F1 PROP1
30 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 IGF1 LHX3 LHX4 POU1F1 PROP1

Molecular functions related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 HESX1 LHX3 LHX4 POU1F1 PROP1
2 peptide hormone binding GO:0017046 8.96 GHR GHRHR

Sources for Isolated Growth Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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41 MeSH
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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