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IGHD
MCID: ISL003
MIFTS: 52

Isolated Growth Hormone Deficiency (IGHD) malady

Categories: Rare diseases, Endocrine diseases, Genetic diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Isolated Growth Hormone Deficiency

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Aliases & Descriptions for Isolated Growth Hormone Deficiency:

Name: Isolated Growth Hormone Deficiency 12 50 25 14
Non-Acquired Isolated Growth Hormone Deficiency 12 50 56
Congenital Isolated Growth Hormone Deficiency 12 50 56
Congenital Isolated Gh Deficiency 12 50 56
Congenital Ighd 12 50 56
Isolated Somatotropin Deficiency 25 69
Familial Isolated Growth Hormone Deficiency 12
Isolated Somatotropin Deficiency Disorder 25
Isolated Human Growth Hormone Deficiency 25
Dwarfism, Growth Hormone Deficiency 25
Growth Hormone Deficiency Dwarfism 25
Isolated Hgh Deficiency 25
Isolated Gh Deficiency 25
Dwarfism, Pituitary 25
Dwarfism Pituitary 52
Pituitary Dwarfism 69
Ighd 12

Characteristics:

Orphanet epidemiological data:

56
non-acquired isolated growth hormone deficiency
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 56  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060870
ICD10 33 E23.0
Orphanet 56 ORPHA631
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 70 C0013338
UMLS 69 C0013338
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Summaries for Isolated Growth Hormone Deficiency

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NIH Rare Diseases : 50 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 mental retardation, x-linked, with isolated growth hormone deficiency and isolated growth hormone deficiency, type ib, ghrhr-related, and has symptoms including delayed skeletal maturation, short stature and anterior hypopituitarism. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are G-Beta Gamma Signaling and Endochondral Ossification. The drugs Selenium and Hormone Antagonists 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 : 25 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.

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Related Diseases for Isolated Growth Hormone Deficiency

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

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with isolated growth hormone deficiency 12.4
2 isolated growth hormone deficiency, type ib, ghrhr-related 12.1
3 isolated growth hormone deficiency, ghrh-related 12.1
4 agammaglobulinemia and isolated hormone deficiency 12.1
5 isolated growth hormone deficiency, type ib, gh1-related 12.0
6 growth hormone deficiency, isolated, type ii 12.0
7 growth hormone deficiency, isolated, type ia 12.0
8 growth hormone deficiency, isolated, type ib 11.9
9 mental retardation, x-linked, with growth hormone deficiency 11.0
10 growth hormone deficiency, isolated partial 11.0
11 pituitary hormone deficiency, combined, 3 10.8
12 growth hormone deficiency 10.8
13 juvenile myelomonocytic leukemia, somatic nf1-related 10.3 GH1 GHRHR
14 intermittent squint 10.2 GH1 GHRH
15 glaucoma, hereditary adult type 1a 10.2 GH1 GHRH
16 pemphigus vegetans 10.2 GH1 GHR
17 critical congenital heart disease 10.1 GH1 IGF1
18 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.1 GH1 IGF1
19 deafness, autosomal dominant 25 10.1 GHR IGF1
20 mental retardation, x-linked syndromic, christianson type 10.1 POU1F1 PROP1 SOX3
21 pagod syndrome 10.1 HESX1 OTX2
22 rolandic epilepsy, mental retardation, and speech dyspraxia 10.1 BTK HESX1 SOX3
23 osseous heteroplasia, progressive 10.1 GH1 IGF1
24 primary effusion lymphoma 10.1 GH1 IGF1
25 bone benign neoplasm 10.0 IGF1 PROP1
26 epileptic encephalopathy, early infantile, 24 10.0 GH1 GHR IGF1
27 capillary lymphangioma 10.0 GH1 GHR IGF1
28 extrahepatic bile duct adenocarcinoma 10.0 GH1 GHR IGF1
29 pulmonary neuroendocrine tumor 10.0 GH1 GHR
30 short stature with nonspecific skeletal abnormalities 10.0 GHR IGF1
31 potter's syndrome 10.0 LHX3 PROP1
32 agammaglobulinemia 9.9
33 hypoglycemia 9.9
34 protein s deficiency 9.9 GH1 GHR GHRH IGF1
35 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 9.9 GH1 GHR GHRH IGF1
36 caudal regression syndrome 9.9 GH1 IGF1 POU1F1 PROP1
37 rheumatic encephalitis 9.9 GH1 IGF1 POU1F1 PROP1
38 edict syndrome 9.9 GH1 GHR GHRH IGF1
39 dwarfism 9.9
40 microtia, hearing impairment, and cleft palate 9.8 GH1 GHR GHRH GHRHR IGF1
41 dykes markes harper syndrome 9.8 GH1 GHR GHRH GHRHR IGF1
42 thrombophilia 9.8 GH1 GHR GHRH GHRHR IGF1
43 adamantinous craniopharyngioma 9.8 GH1 GHR GHRH IGF1 POU1F1
44 retinitis 9.8
45 thyroiditis 9.8
46 insulin-like growth factor i 9.8
47 epidural neoplasm 9.8 HESX1 LHX3 PROP1
48 thyroxine-binding globulin deficiency 9.6
49 vascular malformation 9.6
50 dermatomyositis 9.6

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



Diseases related to Isolated Growth Hormone Deficiency
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Symptoms & Phenotypes for Isolated Growth Hormone Deficiency

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Human phenotypes related to Isolated Growth Hormone Deficiency:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
2 short stature 56 32 Very frequent (99-80%) HP:0004322
3 anterior hypopituitarism 56 32 Very frequent (99-80%) HP:0000830

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.14 GHR GHRH GHRHR HESX1 IGF1 LHX3
2 growth/size/body region MP:0005378 10.11 BTK GHR GHRH GHRHR HESX1 IGF1
3 homeostasis/metabolism MP:0005376 10 BTK GHR GHRH GHRHR IGF1 LHX3
4 mortality/aging MP:0010768 9.85 BTK GHR HESX1 IGF1 LHX3 LHX4
5 craniofacial MP:0005382 9.83 OTX2 POU1F1 SOX3 HESX1 LHX3
6 hearing/vestibular/ear MP:0005377 9.72 HESX1 IGF1 LHX3 OTX2 POU1F1
7 nervous system MP:0003631 9.7 HESX1 IGF1 LHX3 LHX4 OTX2 POU1F1
8 reproductive system MP:0005389 9.28 GHR GHRH GHRHR IGF1 LHX3 OTX2
Sources

Drugs & Therapeutics for Isolated Growth Hormone Deficiency

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

(show top 50) (show all 195)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Vet_approved Phase 4 7782-49-2
2 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
3 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
5 Antioxidants Phase 4
6 Micronutrients Phase 4,Phase 1,Phase 2
7 Protective Agents Phase 4
8 Trace Elements Phase 4,Phase 1,Phase 2
9 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
13 methionine Nutraceutical Phase 4
14
Zinc Approved Phase 3,Early Phase 1 7440-66-6 32051 23994
15
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3,Early Phase 1 50-23-7 5754 657311
16
Clonidine Approved Phase 3 4205-90-7 2803
17
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
18
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
19
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
20
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
21
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
22
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
23
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
24
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
26
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
27
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
28
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
29
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
30 tannic acid Approved, Nutraceutical Phase 3
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
32
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
33 Hypoglycemic Agents Phase 3,Early Phase 1
34 Anti-Inflammatory Agents Phase 2, Phase 3,Early Phase 1
35 Anesthetics Phase 2, Phase 3
36 Cortisol succinate Phase 2, Phase 3,Early Phase 1
37 Hydrocortisone 17-butyrate 21-propionate Phase 2, Phase 3,Early Phase 1
38 Hydrocortisone acetate Phase 2, Phase 3,Early Phase 1
39 Adrenergic Agents Phase 3,Phase 2
40 Adrenergic Agonists Phase 3,Phase 2
41 Adrenergic alpha-2 Receptor Agonists Phase 3
42 Adrenergic alpha-Agonists Phase 3,Phase 2
43 Analgesics Phase 3,Phase 2
44 Antihypertensive Agents Phase 3
45 Autonomic Agents Phase 3,Phase 2
46 Neurotransmitter Agents Phase 3,Phase 2
47 Peripheral Nervous System Agents Phase 3,Phase 2
48 Sympatholytics Phase 3
49 Antibodies Phase 3,Phase 2
50 Immunoglobulins Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 229)
id Name Status NCT ID Phase
1 Growth Hormone and Brain Functioning After Traumatic Brain Injury Unknown status NCT01699308 Phase 4
2 Selenium Supplementation in Pregnancy Unknown status NCT01465867 Phase 4
3 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4
4 National Cooperative Growth Study (NCGS) of Optimal Nutropin AQ and Nutropin Dosing in Pubertal Growth Hormone-Deficient (GHD) Patients Completed NCT00097513 Phase 4
5 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
6 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4
7 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4
8 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4
9 Easypod United States User Trial Completed NCT00689260 Phase 4
10 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
11 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
12 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4
13 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4
14 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
15 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
16 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4
17 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4
18 IGF1 Generation Test Completed NCT00145457 Phase 4
19 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4
20 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4
21 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
22 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4
23 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 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
25 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
26 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
27 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4
28 Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study) Completed NCT00710307 Phase 4
29 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4
30 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Recruiting NCT02314676 Phase 4
31 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
32 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
33 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
34 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
35 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Active, not recruiting NCT02311894 Phase 4
36 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
37 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4
38 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4
39 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4
40 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3
41 Somatropin (Norditropin) in Insulin-like Growth Factor (IGF) Deficient Children Completed NCT00102817 Phase 3
42 Cool.Click™ Adolescent Transition Study: Study of Saizen® in Subjects With Childhood-onset Growth Hormone Deficiency Completed NCT00109733 Phase 3
43 Investigation of a New, Oral Growth Hormone Secretagogue, Macimorelin (AEZS-130) as a Growth Hormone Stimulation Test. Completed NCT00448747 Phase 3
44 Sustained Release Formulation of Somatropin (rDNA Origin)for Injection Completed NCT00600808 Phase 2, Phase 3
45 Low and Conventional Dose of Somatropin in Growth Hormone Deficient Adult Patients Completed NCT00570011 Phase 3
46 Practicability and Acceptability of Stylomax® in Children Completed NCT00476385 Phase 3
47 Evolution Of Growth Rate In Children With Growth Retardation Due to Glucocorticosteroid Therapy And Treated By Genotonorm Completed NCT00163189 Phase 3
48 Transition Study: Growth Hormone Therapy In Partial Growth Hormone Deficient Adolescents Completed NCT00156143 Phase 3
49 Growth Hormone and Chromosome 18q- and Abnormal Growth Completed NCT00134420 Phase 3
50 Treatment With Recombinant Human Growth Hormone Genotonorm (Registered) In Children With Short Stature Secondary Completed NCT00174278 Phase 3

Search NIH Clinical Center for Isolated Growth Hormone Deficiency

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Genetic Tests for Isolated Growth Hormone Deficiency

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Anatomical Context for Isolated Growth Hormone Deficiency

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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

39
Pituitary, Bone, Testes, Thyroid, Uterus, Hypothalamus
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Publications for Isolated Growth Hormone Deficiency

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Articles related to Isolated Growth Hormone Deficiency:

(show top 50) (show all 197)
id Title Authors Year
1
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
2
Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes. ( 26888628 )
2016
3
Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. ( 27114065 )
2016
4
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency. ( 26797872 )
2016
5
Rescue of Isolated Growth Hormone Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. ( 27253996 )
2016
6
Abnormal vascular and neural retinal morphology in congenital lifetime isolated growth hormone deficiency. ( 27552668 )
2016
7
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
8
Growth, development, puberty and adult height before and during treatment in children with congenital isolated growth hormone deficiency. ( 26077773 )
2015
9
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. ( 26612202 )
2015
10
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review. ( 26481254 )
2015
11
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. ( 24803154 )
2014
12
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
13
Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency. ( 25541890 )
2014
14
The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity. ( 25041402 )
2014
15
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. ( 25116472 )
2014
16
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
17
Corneal properties in children with congenital isolated growth hormone deficiency. ( 24790877 )
2014
18
Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children. ( 25252748 )
2014
19
Hearing Status in Adult Individuals with Lifetime, Untreated Isolated Growth Hormone Deficiency. ( 24398366 )
2014
20
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. ( 24450934 )
2014
21
Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II. ( 24280736 )
2013
22
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
23
Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). ( 23436191 )
2013
24
Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. ( 24497717 )
2013
25
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. ( 23602557 )
2013
26
Children with isolated growth hormone deficiency: Empty sella versus normal sella. ( 24019611 )
2013
27
A novel GH1 mutation in a family with isolated growth hormone deficiency type II. ( 22188748 )
2012
28
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
29
Isolated growth hormone deficiency type 2: from gene to therapy. ( 23182825 )
2012
30
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
31
Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. ( 21933221 )
2012
32
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). ( 22016154 )
2012
33
Insulin sensitivity and I^-cell function in adults with lifetime, untreated isolated growth hormone deficiency. ( 22170707 )
2012
34
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
35
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. ( 23565410 )
2012
36
Effects of depot growth hormone replacement on thyroid function and volume in adults with congenital isolated growth hormone deficiency. ( 21422802 )
2012
37
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
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
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). ( 22139958 )
2012
40
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
41
Metabolic impact of adult-onset, isolated, growth hormone deficiency (AOiGHD) due to destruction of pituitary somatotropes. ( 21283519 )
2011
42
Cephalometric features in isolated growth hormone deficiency. ( 21341997 )
2011
43
Response to growth hormone treatment in isolated growth hormone deficiency versus multiple pituitary hormone deficiency. ( 21778748 )
2011
44
Measurement of amino-terminal propeptide of C-type natriuretic peptide in patients with idiopathic short stature or isolated growth hormone deficiency. ( 22308853 )
2011
45
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. ( 20396904 )
2010
46
Long-term human growth hormone expression and partial phenotypic correction by plasmid-based gene therapy in an animal model of isolated growth hormone deficiency. ( 20603861 )
2010
47
Genetic causes and treatment of isolated growth hormone deficiency-an update. ( 20852587 )
2010
48
Adipokine profile and urinary albumin excretion in isolated growth hormone deficiency. ( 20016047 )
2010
49
Genetics of isolated growth hormone deficiency. ( 21274339 )
2010
50
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. ( 20190537 )
2010
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Variations for Isolated Growth Hormone Deficiency

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Expression for Isolated Growth Hormone Deficiency

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

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

id Super pathways Score Top Affiliating Genes
1
G-Beta Gamma Signaling 60
Show member pathways
 12.02 BTK GH1 GHRH GHRHR
2
Endochondral Ossification 1
10.61 GH1 GHR IGF1
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GO Terms for Isolated Growth Hormone Deficiency

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

id 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 31)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.94 IGF1 LHX3 LHX4 PROP1
2 positive regulation of cell proliferation GO:0008284 9.93 GHRH GHRHR IGF1 POU1F1
3 animal organ morphogenesis GO:0009887 9.77 LHX3 LHX4 PROP1
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 GH1 GHR IGF1
5 cell maturation GO:0048469 9.65 BTK GHRHR
6 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.65 GH1 GHR
7 JAK-STAT cascade GO:0007259 9.63 GH1 GHR
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 GH1 GHR IGF1
9 cAMP-mediated signaling GO:0019933 9.62 GHRH GHRHR
10 regulation of multicellular organism growth GO:0040014 9.62 GHR IGF1
11 response to food GO:0032094 9.61 GHR GHRH
12 motor neuron axon guidance GO:0008045 9.61 LHX3 LHX4
13 positive regulation of JAK-STAT cascade GO:0046427 9.6 GH1 GHR
14 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.58 GH1 GHR
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.58 GHR IGF1
16 determination of adult lifespan GO:0008340 9.57 GHRHR POU1F1
17 pituitary gland development GO:0021983 9.56 HESX1 LHX3 POU1F1 SOX3
18 positive regulation of hormone secretion GO:0046887 9.55 GHRH GHRHR
19 positive regulation of growth hormone secretion GO:0060124 9.52 GHRH GHRHR
20 growth hormone receptor signaling pathway GO:0060396 9.51 GH1 GHR
21 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.5 GH1 GHR IGF1
22 growth hormone secretion GO:0030252 9.49 GHRH GHRHR
23 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.48 GHRHR POU1F1
24 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GH1 GHRH GHRHR IGF1
25 somatotropin secreting cell differentiation GO:0060126 9.43 POU1F1 PROP1
26 somatotropin secreting cell development GO:0060133 9.4 GHRHR POU1F1
27 medial motor column neuron differentiation GO:0021526 9.37 LHX3 LHX4
28 adenohypophysis development GO:0021984 9.26 GHRH GHRHR POU1F1 PROP1
29 positive regulation of multicellular organism growth GO:0040018 9.02 GH1 GHR GHRH GHRHR POU1F1
30 regulation of transcription, DNA-templated GO:0006355 10.16 BTK HESX1 LHX3 LHX4 OTX2 POU1F1
31 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.04 IGF1 LHX3 OTX2 POU1F1 PROP1

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
2 peptide hormone binding GO:0017046 9.26 GHR GHRHR
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.26 HESX1 LHX3 OTX2 POU1F1
4 sequence-specific DNA binding GO:0043565 9.1 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
Sources

Sources for Isolated Growth Hormone Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
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44 MGI
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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