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IGHD
MCID: ISL003
MIFTS: 51

Isolated Growth Hormone Deficiency (IGHD)

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

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MalaCards integrated aliases for Isolated Growth Hormone Deficiency:

Name: Isolated Growth Hormone Deficiency 12 53 25 37 6 15
Non-Acquired Isolated Growth Hormone Deficiency 12 53 59
Congenital Isolated Growth Hormone Deficiency 12 53 59
Congenital Isolated Gh Deficiency 12 53 59
Congenital Ighd 12 53 59
Isolated Somatotropin Deficiency 25 73
Dwarfism, Pituitary 25 44
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 55
Pituitary Dwarfism 73
Ighd 12

Characteristics:

Orphanet epidemiological data:

59
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 Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060870
ICD10 33 E23.0
ICD9CM 35 253.3
MeSH 44 D004393
NCIt 50 C34555
SNOMED-CT 68 45617007 7530009
Orphanet 59 ORPHA631
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 74 C0013338 C0271561
KEGG 37 H02035
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Summaries for Isolated Growth Hormone Deficiency

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NIH Rare Diseases : 53 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.

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. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are Immune response IFN gamma signaling pathway and Growth hormone receptor signaling. The drugs Hormones, Hormone Substitutes, and Hormone Antagonists and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes, and related phenotypes are delayed skeletal maturation and short stature

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 73)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency type iii 34.2 BTK HESX1 SOX3
2 isolated growth hormone deficiency, type ib 33.6 GH1 GHR GHRH GHRHR IGF1
3 isolated growth hormone deficiency, type ii 33.2 GH1 GHR GHRH GHRHR HESX1 IGF1
4 growth hormone deficiency 30.4 BTK GH1 GHRH GHRHR HESX1 IGF1
5 combined pituitary hormone deficiency 29.9 HESX1 POU1F1 PROP1
6 laron syndrome 29.7 GH1 GHR IGF1
7 dwarfism 29.6 GH1 GHR GHRH GHRHR RNU4ATAC
8 pituitary hypoplasia 29.6 GHRHR HESX1 POU1F1 SOX3
9 insulin-like growth factor i 29.4 GH1 GHR GHRH IGF1
10 septooptic dysplasia 29.4 HESX1 POU1F1 PROP1 SOX3
11 acromegaly 29.2 GH1 GHR GHRH IGF1
12 anorexia nervosa 29.2 GH1 GHR GHRH IGF1
13 pituitary hormone deficiency, combined, 2 28.7 GH1 GHR HESX1 IGF1 POU1F1 PROP1
14 hypopituitarism 28.5 GH1 GHRH HESX1 IGF1 POU1F1 PROP1
15 isolated growth hormone deficiency, type ia 12.9
16 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.8
17 isolated growth hormone deficiency, type v 12.5
18 isolated growth hormone deficiency, type iv 12.4
19 mental retardation, x-linked, with panhypopituitarism 12.2
20 pituitary hormone deficiency, combined, 3 11.3
21 growth hormone insensitivity, partial 11.0
22 hypothalamic disease 10.2 GH1 GHRH
23 gigantism 10.2 GH1 GHRH
24 tsh producing pituitary tumor 10.1 GH1 GHRH
25 non-functioning pituitary adenoma 10.1 GH1 GHR
26 functioning pituitary adenoma 10.1 GH1 GHR
27 agammaglobulinemia, x-linked 10.1
28 agammaglobulinemia 10.1
29 hypoglycemia 10.1
30 rheumatoid arthritis 10.1
31 chronic interstitial cystitis 10.1
32 hepatosplenic t-cell lymphoma 10.1
33 chromophobe adenoma 10.1 GH1 GHRH
34 pituitary hormone deficiency, combined, 1 10.0 HESX1 POU1F1
35 pseudohypoparathyroidism, type ia 10.0 GH1 IGF1
36 leukemia, chronic lymphocytic 2 10.0
37 leukemia, chronic lymphocytic 10.0
38 leukemia 10.0
39 lymphocytic leukemia 10.0
40 leukemia, b-cell, chronic 10.0
41 empty sella syndrome 10.0 GH1 IGF1
42 marasmus 10.0 GH1 IGF1
43 cone-rod dystrophy 12 10.0 GH1 IGF1
44 pituitary adenoma 1, multiple types 10.0 GH1 IGF1
45 pituitary-dependent cushing's disease 9.9 GHR GHRH
46 traumatic brain injury 9.9 GH1 IGF1
47 carcinoid syndrome 9.9 GHRH IGF1
48 hypothyroidism due to deficient transcription factors involved in pituitary development or function 9.9 HESX1 POU1F1 PROP1
49 combined pituitary hormone deficiencies, genetic forms 9.9 HESX1 POU1F1 PROP1
50 acromesomelic dysplasia, maroteaux type 9.9 GHR IGF1

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:

59
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 59 Very frequent (99-80%)
2 short stature 59 Very frequent (99-80%)
3 anterior hypopituitarism 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.86 GHR GHRH GHRHR HESX1 IGF1 POU1F1
2 growth/size/body region MP:0005378 9.81 BTK GHR GHRH GHRHR HESX1 IGF1
3 nervous system MP:0003631 9.56 GHR GHRH GHRHR HESX1 IGF1 POU1F1
4 reproductive system MP:0005389 9.17 GHR GHRH GHRHR IGF1 POU1F1 PROP1
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 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
2 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
3 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
4 Imatinib Mesylate Phase 4 220127-57-1 123596
5 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Mitogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
7 insulin Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
8 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10
Zinc Approved, Investigational Phase 3,Not Applicable,Early Phase 1 7440-66-6
11
Mecasermin Approved, Investigational Phase 3,Not Applicable 68562-41-4
12
Clonidine Approved Phase 3 4205-90-7 2803
13 tannic acid Approved Phase 3,Phase 2,Not Applicable
14
Benzocaine Approved, Investigational Phase 3,Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
15
Anastrozole Approved, Investigational Phase 2, Phase 3 120511-73-1 2187
16
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
17
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
18
Vinblastine Approved Phase 2, Phase 3 865-21-4 241903 13342
19
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
21
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
22
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
23
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
24
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
25
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
26
Vincristine Approved, Investigational Phase 2, Phase 3 57-22-7, 2068-78-2 5978
27
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
28
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
29
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Hypoglycemic Agents Phase 3,Not Applicable,Early Phase 1
31 Liver Extracts Phase 3,Not Applicable
32 Antimetabolites Phase 2, Phase 3,Phase 1,Not Applicable
33 Anti-Inflammatory Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
34 arginine Phase 3,Phase 1,Not Applicable
35 Antibodies Phase 3,Phase 2
36 Immunoglobulins Phase 3,Phase 2
37 Immunologic Factors Phase 3,Phase 2
38 Estrogens Phase 3,Phase 2,Not Applicable
39 Analgesics Phase 3,Phase 2
40 Autonomic Agents Phase 3
41 Adrenergic alpha-Agonists Phase 3
42 Antihypertensive Agents Phase 3
43 Sympatholytics Phase 3
44 Adrenergic Agents Phase 3,Phase 2
45 Adrenergic alpha-2 Receptor Agonists Phase 3
46 Peripheral Nervous System Agents Phase 3,Phase 2
47 Neurotransmitter Agents Phase 3,Phase 2
48 Adrenergic Agonists Phase 3
49 Steroid Synthesis Inhibitors Phase 2, Phase 3
50 Estrogen Receptor Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 262)
# Name Status NCT ID Phase Drugs
1 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Unknown status NCT02908958 Phase 4
2 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Unknown status NCT02976675 Phase 4
3 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
4 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
5 An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
6 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
7 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
8 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
9 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Completed NCT02311894 Phase 4 Somatropin
10 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
11 IGF1 Generation Test Completed NCT00145457 Phase 4
12 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 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 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
15 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
16 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
17 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
18 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
19 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
20 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
21 Easypod United States User Trial Completed NCT00689260 Phase 4
22 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
23 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
24 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
25 Effects of Growth Hormone Administration on Muscle Strength and Body Composition in Men Over 50 Years Old Completed NCT01853566 Phase 4 growth hormone
26 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
27 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
28 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
29 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
30 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
31 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
32 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
33 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
34 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
35 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
36 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
37 Extension Study on Safety of Long-Term Growth Hormone Replacement in Adult Patients With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
38 Validation of Macimorelin as a Test for Adult Growth Hormone Deficiency Completed NCT02558829 Phase 3 Macimorelin;Insulin
39 Treatment of Adults With Growth Hormone Deficiency Completed NCT00294619 Phase 3 growth hormone
40 Treatment of Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
41 Cool.Click™ Adolescent Transition Study: Study of Saizen® in Subjects With Childhood-onset Growth Hormone Deficiency Completed NCT00109733 Phase 3
42 Evaluation of Efficacy and Safety of Recombinant Somatroipn in Patients With Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
43 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
44 A Study of Zomacton in Children With Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
45 Comparing Efficacy and Safety of CinnaGen Biosimilar Growth Hormone (CinnaTropin®) Versus Nordilet in Children With Idiopathic Growth Hormone Deficiency Completed NCT03223025 Phase 3 CinnaTropin®;Nordilet®
46 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Somatropin in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin
47 A Trial to Evaluate the Safety of Once Weekly Dosing of Somapacitan (NNC0195-0092) and Daily Norditropin® FlexPro® for 52 Weeks in Previously Human Growth Hormone Treated Japanese Adults With Growth Hormone Deficiency Completed NCT03075644 Phase 3 somapacitan;Norditropin
48 Growth Hormone Deficiency in Adults (GHDA) Completed NCT00519558 Phase 3 somatropin
49 A Trial to Compare the Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® FlexPro® for 26 Weeks in Previously Human Growth Hormone Treated Adults With Growth Hormone Deficiency Completed NCT02382939 Phase 3 somapacitan;somatropin
50 Safety and Efficacy of Somatropin in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;somatropin

Search NIH Clinical Center for Isolated Growth Hormone Deficiency

Cochrane evidence based reviews: dwarfism, pituitary

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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:

41
Pituitary, Bone, Testes, Thyroid, Brain, T Cells, B Cells
Sources

Publications for Isolated Growth Hormone Deficiency

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Articles related to Isolated Growth Hormone Deficiency:

(show top 50) (show all 210)
# 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
Immunological and microbiological periodontal profiles in isolated growth hormone deficiency. ( 29797719 )
2018
3
Pituitary height at magnetic resonance imaging in pediatric isolated growth hormone deficiency. ( 29508041 )
2018
4
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib ( 29537382 )
2018
5
Adult individuals with congenital, untreated, severe isolated growth hormone deficiency have satisfactory muscular function. ( 30251164 )
2018
6
Novel gross deletion at the GHRHR gene locus possibly mediated by Alu specific microhomology identified in a Sri Lankan patient with isolated growth hormone deficiency. ( 30390533 )
2018
7
Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect on retina. ( 29082892 )
2017
8
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. ( 29147571 )
2017
9
Choroidal thickness measurements in children with isolated growth hormone deficiency. ( 28912516 )
2017
10
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
11
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family. ( 28626954 )
2017
12
Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes. ( 26888628 )
2016
13
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
14
Rescue of Isolated Growth Hormone Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. ( 27253996 )
2016
15
GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency. ( 26797872 )
2016
16
Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. ( 27114065 )
2016
17
Abnormal vascular and neural retinal morphology in congenital lifetime isolated growth hormone deficiency. ( 27552668 )
2016
18
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. ( 26612202 )
2015
19
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review. ( 26481254 )
2015
20
Growth, development, puberty and adult height before and during treatment in children with congenital isolated growth hormone deficiency. ( 26077773 )
2015
21
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
22
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
23
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. ( 24450934 )
2014
24
Corneal properties in children with congenital isolated growth hormone deficiency. ( 24790877 )
2014
25
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
26
Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children. ( 25252748 )
2014
27
Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency. ( 25541890 )
2014
28
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. ( 24803154 )
2014
29
The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity. ( 25041402 )
2014
30
Hearing status in adult individuals with lifetime, untreated isolated growth hormone deficiency. ( 24398366 )
2014
31
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. ( 25116472 )
2014
32
Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. ( 24497717 )
2013
33
Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). ( 23436191 )
2013
34
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
35
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. ( 23602557 )
2013
36
Children with isolated growth hormone deficiency: Empty sella versus normal sella. ( 24019611 )
2013
37
Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II. ( 24280736 )
2013
38
Effects of depot growth hormone replacement on thyroid function and volume in adults with congenital isolated growth hormone deficiency. ( 21422802 )
2012
39
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
40
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
41
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
42
Isolated growth hormone deficiency type 2: from gene to therapy. ( 23182825 )
2012
43
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). ( 22016154 )
2012
44
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
45
Insulin sensitivity and I^-cell function in adults with lifetime, untreated isolated growth hormone deficiency. ( 22170707 )
2012
46
A novel GH1 mutation in a family with isolated growth hormone deficiency type II. ( 22188748 )
2012
47
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). ( 22139958 )
2012
48
Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. ( 21933221 )
2012
49
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
50
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. ( 23565410 )
2012
Sources

Variations for Isolated Growth Hormone Deficiency

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ClinVar genetic disease variations for Isolated Growth Hormone Deficiency:

6 (show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHRHR NM_000823.3(GHRHR): c.169G> A (p.Ala57Thr) single nucleotide variant Benign/Likely benign rs4988496 GRCh37 Chromosome 7, 31008686: 31008686
2 GHRHR NM_000823.3(GHRHR): c.169G> A (p.Ala57Thr) single nucleotide variant Benign/Likely benign rs4988496 GRCh38 Chromosome 7, 30969071: 30969071
3 GHRHR NM_000823.3(GHRHR): c.363G> T (p.Glu121Asp) single nucleotide variant Benign/Likely benign rs4988498 GRCh37 Chromosome 7, 31009576: 31009576
4 GHRHR NM_000823.3(GHRHR): c.363G> T (p.Glu121Asp) single nucleotide variant Benign/Likely benign rs4988498 GRCh38 Chromosome 7, 30969961: 30969961
5 GHRHR NM_000823.3(GHRHR): c.366+13T> G single nucleotide variant Benign/Likely benign rs4988499 GRCh37 Chromosome 7, 31009592: 31009592
6 GHRHR NM_000823.3(GHRHR): c.366+13T> G single nucleotide variant Benign/Likely benign rs4988499 GRCh38 Chromosome 7, 30969977: 30969977
7 GHRHR NM_000823.3(GHRHR): c.564C> T (p.His188=) single nucleotide variant Benign/Likely benign rs740336 GRCh37 Chromosome 7, 31011677: 31011677
8 GHRHR NM_000823.3(GHRHR): c.564C> T (p.His188=) single nucleotide variant Benign/Likely benign rs740336 GRCh38 Chromosome 7, 30972062: 30972062
9 BTK NM_000061.2(BTK): c.141+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138411530 GRCh37 Chromosome X, 100630121: 100630121
10 BTK NM_000061.2(BTK): c.141+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138411530 GRCh38 Chromosome X, 101375133: 101375133
11 BTK NM_000061.2(BTK): c.1899C> T (p.Cys633=) single nucleotide variant Benign rs1135363 GRCh37 Chromosome X, 100608191: 100608191
12 BTK NM_000061.2(BTK): c.1899C> T (p.Cys633=) single nucleotide variant Benign rs1135363 GRCh38 Chromosome X, 101353203: 101353203
13 GHRHR NM_000823.3(GHRHR): c.741C> T (p.Leu247=) single nucleotide variant Conflicting interpretations of pathogenicity rs151019928 GRCh37 Chromosome 7, 31013743: 31013743
14 GHRHR NM_000823.3(GHRHR): c.741C> T (p.Leu247=) single nucleotide variant Conflicting interpretations of pathogenicity rs151019928 GRCh38 Chromosome 7, 30974128: 30974128
15 GH1 NM_000515.4(GH1): c.116C> T (p.Ala39Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151263636 GRCh37 Chromosome 17, 61995761: 61995761
16 GH1 NM_000515.4(GH1): c.116C> T (p.Ala39Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151263636 GRCh38 Chromosome 17, 63918401: 63918401
17 BTK NM_000061.2(BTK): c.615G> T (p.Glu205Asp) single nucleotide variant Benign/Likely benign rs35877704 GRCh37 Chromosome X, 100615717: 100615717
18 BTK NM_000061.2(BTK): c.615G> T (p.Glu205Asp) single nucleotide variant Benign/Likely benign rs35877704 GRCh38 Chromosome X, 101360729: 101360729
19 GHRHR NM_000823.3(GHRHR): c.512C> G (p.Thr171Ser) single nucleotide variant Uncertain significance rs10227922 GRCh37 Chromosome 7, 31011625: 31011625
20 GHRHR NM_000823.3(GHRHR): c.512C> G (p.Thr171Ser) single nucleotide variant Uncertain significance rs10227922 GRCh38 Chromosome 7, 30972010: 30972010
21 GHRHR NM_000823.3(GHRHR): c.812+12C> T single nucleotide variant Uncertain significance rs151020002 GRCh38 Chromosome 7, 30974501: 30974501
22 GHRHR NM_000823.3(GHRHR): c.812+12C> T single nucleotide variant Uncertain significance rs151020002 GRCh37 Chromosome 7, 31014116: 31014116
23 GHRHR NM_000823.3(GHRHR): c.*236C> A single nucleotide variant Uncertain significance rs28371564 GRCh37 Chromosome 7, 31019095: 31019095
24 GHRHR NM_000823.3(GHRHR): c.*236C> A single nucleotide variant Uncertain significance rs28371564 GRCh38 Chromosome 7, 30979480: 30979480
25 GHRHR NM_000823.3(GHRHR): c.-45C> T single nucleotide variant Likely benign rs2302021 GRCh37 Chromosome 7, 31003639: 31003639
26 GHRHR NM_000823.3(GHRHR): c.-45C> T single nucleotide variant Likely benign rs2302021 GRCh38 Chromosome 7, 30964024: 30964024
27 GHRHR NM_000823.3(GHRHR): c.*51C> T single nucleotide variant Uncertain significance rs185262577 GRCh37 Chromosome 7, 31018910: 31018910
28 GHRHR NM_000823.3(GHRHR): c.*51C> T single nucleotide variant Uncertain significance rs185262577 GRCh38 Chromosome 7, 30979295: 30979295
29 GHRHR NM_000823.3(GHRHR): c.*147A> C single nucleotide variant Uncertain significance rs2586 GRCh37 Chromosome 7, 31019006: 31019006
30 GHRHR NM_000823.3(GHRHR): c.*147A> C single nucleotide variant Uncertain significance rs2586 GRCh38 Chromosome 7, 30979391: 30979391
31 GHRHR NM_000823.3(GHRHR): c.*198C> A single nucleotide variant Uncertain significance rs886062276 GRCh37 Chromosome 7, 31019057: 31019057
32 GHRHR NM_000823.3(GHRHR): c.*198C> A single nucleotide variant Uncertain significance rs886062276 GRCh38 Chromosome 7, 30979442: 30979442
33 GHRHR NM_000823.3(GHRHR): c.57+1G> T single nucleotide variant Uncertain significance rs2302022 GRCh38 Chromosome 7, 30964126: 30964126
34 GHRHR NM_000823.3(GHRHR): c.485A> T (p.Asn162Ile) single nucleotide variant Uncertain significance rs746565662 GRCh37 Chromosome 7, 31011598: 31011598
35 GHRHR NM_000823.3(GHRHR): c.485A> T (p.Asn162Ile) single nucleotide variant Uncertain significance rs746565662 GRCh38 Chromosome 7, 30971983: 30971983
36 GHRHR NM_000823.3(GHRHR): c.57+1G> T single nucleotide variant Uncertain significance rs2302022 GRCh37 Chromosome 7, 31003741: 31003741
37 GHRHR NM_000823.3(GHRHR): c.29T> G (p.Val10Gly) single nucleotide variant Uncertain significance rs139599160 GRCh37 Chromosome 7, 31003712: 31003712
38 GHRHR NM_000823.3(GHRHR): c.29T> G (p.Val10Gly) single nucleotide variant Uncertain significance rs139599160 GRCh38 Chromosome 7, 30964097: 30964097
39 GHRHR NM_000823.3(GHRHR): c.598-10T> C single nucleotide variant Likely benign rs35609199 GRCh38 Chromosome 7, 30973975: 30973975
40 GHRHR NM_000823.3(GHRHR): c.598-10T> C single nucleotide variant Likely benign rs35609199 GRCh37 Chromosome 7, 31013590: 31013590
41 GHRHR NM_000823.3(GHRHR): c.875C> G (p.Ser292Trp) single nucleotide variant Uncertain significance rs527387367 GRCh38 Chromosome 7, 30975033: 30975033
42 GHRHR NM_000823.3(GHRHR): c.875C> G (p.Ser292Trp) single nucleotide variant Uncertain significance rs527387367 GRCh37 Chromosome 7, 31014648: 31014648
43 GHRHR NM_000823.3(GHRHR): c.1265T> C (p.Met422Thr) single nucleotide variant Likely benign rs2228078 GRCh38 Chromosome 7, 30979237: 30979237
44 GHRHR NM_000823.3(GHRHR): c.1265T> C (p.Met422Thr) single nucleotide variant Likely benign rs2228078 GRCh37 Chromosome 7, 31018852: 31018852
45 GHRHR NM_000823.3(GHRHR): c.208T> G (p.Ser70Ala) single nucleotide variant Uncertain significance rs775025721 GRCh37 Chromosome 7, 31008725: 31008725
46 GHRHR NM_000823.3(GHRHR): c.208T> G (p.Ser70Ala) single nucleotide variant Uncertain significance rs775025721 GRCh38 Chromosome 7, 30969110: 30969110
47 GHRHR NM_000823.3(GHRHR): c.640A> G (p.Met214Val) single nucleotide variant Uncertain significance rs535947130 GRCh38 Chromosome 7, 30974027: 30974027
48 GHRHR NM_000823.3(GHRHR): c.640A> G (p.Met214Val) single nucleotide variant Uncertain significance rs535947130 GRCh37 Chromosome 7, 31013642: 31013642
49 GHRHR NM_000823.3(GHRHR): c.812C> T (p.Ala271Val) single nucleotide variant Uncertain significance rs547906129 GRCh38 Chromosome 7, 30974489: 30974489
50 GHRHR NM_000823.3(GHRHR): c.812C> T (p.Ala271Val) single nucleotide variant Uncertain significance rs547906129 GRCh37 Chromosome 7, 31014104: 31014104
Sources

Expression for Isolated Growth Hormone Deficiency

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

Pathways for Isolated Growth Hormone Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.27 BTK GH1 GHRH IGF1
2
Growth hormone receptor signaling 66
Show member pathways
 10.87 GH1 GHR
3
Endochondral Ossification 1
10.61 GH1 GHR IGF1
4
G-protein signaling_Rap2B regulation pathway 22
10.36 BTK GH1 GHRH IGF1
Sources

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:

# Name GO ID Score Top Affiliating Genes
1 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 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 GHRH GHRHR IGF1 POU1F1
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 GH1 GHR IGF1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 GH1 GHR IGF1
4 cell maturation GO:0048469 9.61 BTK GHRHR
5 regulation of multicellular organism growth GO:0040014 9.6 GHR IGF1
6 positive regulation of JAK-STAT cascade GO:0046427 9.59 GH1 GHR
7 response to food GO:0032094 9.58 GHR GHRH
8 determination of adult lifespan GO:0008340 9.58 GHRHR POU1F1
9 hormone metabolic process GO:0042445 9.57 GHR GHRHR
10 insulin-like growth factor receptor signaling pathway GO:0048009 9.56 GHR IGF1
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.55 GH1 GHR
12 growth hormone receptor signaling pathway GO:0060396 9.54 GH1 GHR
13 positive regulation of hormone secretion GO:0046887 9.51 GHRH GHRHR
14 positive regulation of growth hormone secretion GO:0060124 9.49 GHRH GHRHR
15 growth hormone secretion GO:0030252 9.46 GHRH GHRHR
16 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 GH1 GHRH GHRHR IGF1
17 positive regulation of circadian sleep/wake cycle, non-REM sleep GO:0046010 9.43 GHRH GHRHR
18 pituitary gland development GO:0021983 9.43 HESX1 POU1F1 SOX3
19 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.4 GHRHR POU1F1
20 somatotropin secreting cell differentiation GO:0060126 9.37 POU1F1 PROP1
21 somatotropin secreting cell development GO:0060133 9.32 GHRHR POU1F1
22 adenohypophysis development GO:0021984 9.26 GHRH GHRHR POU1F1 PROP1
23 positive regulation of multicellular organism growth GO:0040018 9.02 GH1 GHR GHRH GHRHR POU1F1

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 8.96 GHR GHRHR
2 hormone activity GO:0005179 8.8 GH1 GHRH IGF1
Sources

Sources for Isolated Growth Hormone Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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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