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IGHD
MCID: ISL003
MIFTS: 49

Isolated Growth Hormone Deficiency (IGHD)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways 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 52 25 36 6 15
Non-Acquired Isolated Growth Hormone Deficiency 12 52
Congenital Isolated Growth Hormone Deficiency 12 52
Congenital Isolated Gh Deficiency 12 52
Isolated Somatotropin Deficiency 25 71
Dwarfism, Pituitary 25 43
Pituitary Dwarfism 17 71
Congenital Ighd 12 52
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 54
Ighd 12

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0060870
KEGG 36 H02035
ICD9CM 34 253.3
MeSH 43 D004393
NCIt 49 C34555
SNOMED-CT 67 367460001
ICD10 32 E23.0
UMLS 71 C0013338 C3714796
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Summaries for Isolated Growth Hormone Deficiency

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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. There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern. Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth. People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood. Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone. Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).

MalaCards based summary : Isolated Growth Hormone Deficiency, also known as non-acquired isolated growth hormone deficiency, is related to isolated growth hormone deficiency, type ib and isolated growth hormone deficiency, type ia. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (Growth Hormone Releasing Hormone Receptor), and among its related pathways/superpathways are Relaxin signaling pathway and Endochondral Ossification. The drugs Pharmaceutical Solutions 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.

NIH Rare Diseases : 52 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.

KEGG : 36 Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. About 5-30% of patients are found to have affected first-degree relatives, suggesting genetic causes. IGHD has been classified into three types. IGHD type 1, characterized by autosomal recessive transmission, is further separated into subtypes 1A and 1B. The phenotype of IGHD type 1B is milder than that of IGHD type 1A. IGHD type 2 is inherited in an autosomal dominant pattern. IGHD type 3 is an X-linked recessive disorder with a highly variable phenotype. Some individuals have an associated agammaglobulinemia.

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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 185)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ib 35.2 GHRHR GHRH GH1
2 isolated growth hormone deficiency, type ia 35.0 RNU4ATAC RNPC3 GH1
3 isolated growth hormone deficiency type iii 34.8 SOX3 HESX1 GHRHR GHRH GH1 BTK
4 isolated growth hormone deficiency, type ii 34.6 PROP1 POU1F1 IGF1 HESX1 GHRHR GHRH
5 growth hormone deficiency 31.4 SOX3 RNPC3 LOC108004536 LOC105980078 HESX1 GHRHR
6 hypoglycemia 30.8 POMC IGF1 GHRH GHR GH1
7 insulin-like growth factor i 30.8 IGF1 GHRH GHR GH1
8 dwarfism 30.6 RNU4ATAC GHRHR GHRH GHR GH1
9 gigantism 30.5 GHRH GH1
10 turner syndrome 30.5 POMC IGF1 GHRH GHR GH1
11 fryns microphthalmia syndrome 30.5 OTX2 HESX1
12 congenital hypopituitarism 30.5 PROP1 LHX4 HESX1 GHRH
13 laron syndrome 30.4 PROP1 IGF1 GHRHR GHR GH1
14 pituitary tumors 30.3 PROP1 POMC IGF1 GH1
15 pituitary hypoplasia 30.3 SOX3 POU1F1 OTX2 LHX4 LHX3 HESX1
16 fasting hypoglycemia 30.3 POMC IGF1
17 pituitary hormone deficiency, combined, 1 30.3 POU1F1 LHX4 LHX3 HESX1
18 craniopharyngioma 30.2 PROP1 POU1F1 IGF1 GH1
19 hypothyroidism, congenital, nongoitrous, 4 30.2 PROP1 POU1F1 POMC GH1
20 hyperprolactinemia 30.2 POMC IGF1 GHRH GH1
21 multiple endocrine neoplasia, type i 30.1 POMC GHRHR GHRH
22 adenoma 30.1 POU1F1 POMC IGF1 GHRH GH1
23 anorexia nervosa 30.0 POMC IGF1 GHRH GHR GH1
24 acromegaly 29.9 POMC IGF1 GHRHR GHRH GHR GH1
25 hypopituitarism 28.9 SOX3 RNU4ATAC PROP1 POU1F1 POMC OTX2
26 hypothyroidism 28.9 SOX3 PROP1 POU1F1 POMC LHX4 LHX3
27 septooptic dysplasia 28.7 SOX3 PROP1 POU1F1 POMC OTX2 LHX4
28 pituitary hormone deficiency, combined, 2 28.5 SOX3 PROP1 POU1F1 POMC OTX2 LHX4
29 pituitary gland disease 28.5 SOX3 RNU4ATAC PROP1 POU1F1 POMC LHX4
30 isolated growth hormone deficiency, type v 12.9
31 isolated growth hormone deficiency, type iii, with agammaglobulinemia 12.8
32 isolated growth hormone deficiency, type iv 12.8
33 mental retardation, x-linked, with panhypopituitarism 12.5
34 pituitary dwarfism with large sella turcica 12.4
35 kowarski syndrome 11.8
36 panhypopituitarism, x-linked 11.4
37 pituitary hormone deficiency, combined, 3 11.3
38 growth hormone insensitivity, partial 11.2
39 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.6 GHRH GH1
40 non-acquired panhypopituitarism 10.6 SOX3 PROP1
41 non-functioning pituitary adenoma 10.5 GHR GH1
42 adenohypophysitis 10.5 POMC GH1
43 central precocious puberty 10.5 IGF1 GH1
44 lymphocytic hypophysitis 10.5 POMC GH1
45 hypothalamic obesity 10.5 IGF1 GHRH
46 chromophobe adenoma 10.5 POMC GH1
47 complex chromosomal rearrangement 10.5 SOX3 OTX2
48 pseudohypoparathyroidism, type ia 10.4 IGF1 GHRH GH1
49 pituitary-dependent cushing's disease 10.4 POMC GHRH GH1
50 adamantinous craniopharyngioma 10.4 PROP1 POU1F1 HESX1

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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MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 GHR GHRH GHRHR HESX1 IGF1 LHX3
2 growth/size/body region MP:0005378 10.13 BTK GHR GHRH GHRHR HESX1 IGF1
3 homeostasis/metabolism MP:0005376 10.07 AICDA BTK GHR GHRH GHRHR IGF1
4 mortality/aging MP:0010768 9.97 AICDA BTK GHR HESX1 IGF1 LHX3
5 nervous system MP:0003631 9.73 GHR GHRH GHRHR HESX1 IGF1 LHX3
6 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 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Hormones Phase 4
3
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
4
Zinc Approved, Investigational Phase 3 7440-66-6 32051
5
tannic acid Approved Phase 3 1401-55-4
6
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
7
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
8 Hypoglycemic Agents Phase 3
9 Hormone Antagonists Phase 3
10 Immunoglobulins Phase 3
11 Antibodies Phase 3
12 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
13 Nutrients Phase 2
14 Estrogens Phase 2
15
Hydrocortisone Approved, Vet_approved 50-23-7 5754
16
Hydrocortisone acetate Approved, Vet_approved 50-03-3
17
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605
18
Dextromethorphan Approved 125-71-3 5360696 5362449
19
Caffeine Approved 58-08-2 2519
20
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Glucagon Approved 16941-32-5
23
Racepinephrine Approved 329-65-7 838
24
Nitric Oxide Approved 10102-43-9 145068
25
Sodium citrate Approved, Investigational 68-04-2
26
Mecasermin Approved, Investigational 68562-41-4
27
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
28
N,N-dimethylarginine Experimental 30315-93-6 123831
29 Anesthetics
30 Hydrocortisone 17-butyrate 21-propionate
31 Hydrocortisone hemisuccinate
32 Liver Extracts
33 Natriuretic Peptide, Brain
34 Natriuretic Peptide, C-Type
35 Respiratory System Agents
36 Excitatory Amino Acid Antagonists
37 Phosphodiesterase Inhibitors
38 Antitussive Agents
39 Central Nervous System Stimulants
40 Neurotransmitter Agents
41 Chlorpheniramine, phenylpropanolamine drug combination
42 Epinephryl borate
43 Glucagon-Like Peptide 1
44 Incretins
45 Gastrointestinal Agents
46 Vitamins
47 Stevia
48
Stevioside 57817-89-7 548198
49 Citrate
50 Insulin, Globin Zinc

Interventional clinical trials:

(show top 50) (show all 134)
# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
2 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
3 Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Children Growth Hormone Deficiency: A Multicenter, Randomized, Parallel, Dose-control Clinical Trial II Unknown status NCT02908958 Phase 4
4 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Open-label, Phase IV Clinical Trial With Different Administration Dosage of PEG Somatropin Unknown status NCT03249480 Phase 4
5 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Randomized, Open-label, Parallel Phase IV Clinical Trial With Different Administration Frequency of PEG Somatropin Unknown status NCT02976675 Phase 4
6 A Multicentre Study on the Capacity of the IGF-1 Stimulation Test to Predict the Growth Promoting Effect of Standard and High Doses of Genotonorm® in Prepubertal Children With Growth Hormone Deficiency. Completed NCT00145457 Phase 4
7 Study to Compare Injection Anxiety Immediately Before the Administration of Each Dose of Tev-Tropin® Between a Needle-syringe Injection Method and a Needle-free Injection Method in Pediatric Subjects With Human Growth Hormone Deficiency Completed NCT00990340 Phase 4
8 An Open, Multi-centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin® SimpleXx® in Children With GH Deficiency Completed NCT00567385 Phase 4 somatropin
9 Effects of Treatment With Human Growth Hormone on Insulin Resistance and Insulin Secretion in Adults With Growth Hormone Deficiency Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
10 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
11 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient Pre-pubertal Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
12 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
13 Open-label, Single-arm, Phase IV, Multicenter Trial to Explore the Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
14 A Phase IV, Multicenter, Open-Label Study of the Immunogenicity of Nutropin AQ® V1.1 [Somatropin (rDNA Origin) Injection] Administered Daily to Naïve Growth Hormone-Deficient Children (iSTUDY) Completed NCT02311894 Phase 4 Somatropin
15 Effect of Growth Hormone Replacement Therapy on Cardiovascular Risk Factors in Adult Patients With Severe Growth Hormone Deficiency: Association With IGF-I Concentration Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
16 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in GHD Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
17 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
18 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
19 Head Trauma With Traumatic Brain Injury (TBI): A Multicenter, Phase IV Study to Evaluate the Effects of Genotropin in Adult Patients With Growth Hormone Deficiency (GHD) Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
20 Placebo Controlled Trial on the Efficacy of Growth Hormone Replacement Therapy in Patients With Growth Hormone Deficiency After Traumatic Brain Injury. Terminated NCT00555009 Phase 4 Genotropin;Placebo
21 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
22 Phase III of the Comparative Study on the Efficacy and Safety of Recombinant Somatropin Administered to Patients With Adult Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
23 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
24 Effect of Two Years of Treatment With Norditropin® SimpleXx® on Bone Mineral Density in Young Adults With Childhood-Onset Growth Hormone Deficiency Completed NCT00184678 Phase 3 somatropin
25 A Phase III, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Multicenter Study to Assess Efficacy and Safety of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency. Completed NCT00294619 Phase 3 growth hormone
26 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
27 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
28 A Phase III, Open-label, Uncontrolled, Multicentre, Rollover Study to Assess Safety and Efficacy of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
29 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Humatrope in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin
30 Norditropin® and Norditropin® Cartridges: An Open-Label, Randomized, Comparative Safety and Efficacy Trial in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;somatropin
31 A Multicentre, Randomised, Open-labelled, Parallel-group, Activecontrolled 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
32 A Multicentre, Multinational, Randomised, Open-labelled, Parallel-group, Active-controlled Trial to Compare the Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® FlexPro® for 26 Weeks in Previously Human Growth Hormone Treated Adults With Growth Hormone Deficiency Completed NCT02382939 Phase 3 somapacitan;somatropin
33 A Randomised, Open-label, Parallel-group, Multi-centre Trial to Compare the Efficacy and Safety for 12 Months of Zomacton to Genotropin in Children With Idiopathic Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
34 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
35 A Phase 3, Open-Label, Randomized, Multicenter, 12-month, Efficacy and Safety Study of Weekly MOD-4023 Compared to Daily Genotropin® Therapy in Japanese Pre-pubertal Children With Growth Hormone Deficiency Completed NCT03874013 Phase 3 MOD-4023;Genotropin
36 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
37 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexx™ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin
38 Phase IIIB, International, Single Group, Open Study to Define an Optimal Monitoring of IGF-1 in Children Treated With NutropinAq, Using a Novel Capillary Blood Collection Method Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
39 Efficacy and Safety of CinnaGen Recombinant Human Growth Hormone (CinnaTropin®) in Comparison With Novo Nordisk Growth Hormone (Nordilet®) Product in Pre-Pubertal Children With Idiopathic Growth Hormone Deficiency (IGHD) Completed NCT03223025 Phase 3 CinnaTropin®;Nordilet®
40 A Phase IIIb, Prospective, Multicenter, Randomized, Open-label Study to Determine the Safety and Efficacy of Two Different Dosing Regimens of Saizen® (Recombinant Human Growth Hormone (r-hGH), Using Cool.Click™ in Subjects With Childhood-onset Growth Hormone Deficiency During the Adolescent Transition Phase (CATS) Completed NCT00109733 Phase 3
41 A Follow-up Study to Examine the Presence of Anti-human Growth Hormone Antibodies Following a Randomised, Open-label, Parallel-group, Multi-centre Trial (FE 999905 CS07) in Which the Efficacy and Safety of 12 Months' Treatment With One Daily Dose of ZOMACTON Were Compared to One Daily Dose of GENOTROPIN Completed NCT02173821 Phase 3
42 fliGHt: A Multicenter, Phase 3, Open-Label, 26-Week Trial Investigating the Safety, Tolerability and Efficacy of TransCon hGH Administered Once Weekly in Children With GHD Completed NCT03305016 Phase 3 TransCon hGH
43 A Multicenter, Phase 3, Randomized, Open-label, Active-controlled, Parallel-group Trial Investigating the Safety, Tolerability, and Efficacy of TransCon hGH Administered Once a Week Versus Standard Daily hGH Replacement Therapy Over 52 Weeks in Prepubertal Children With Growth Hormone Deficiency (GHD) Completed NCT02781727 Phase 3 Once weekly subcutaneous injection of TransCon hGH;Once daily subcutaneous injection of Genotropin
44 A Multicentre, Multinational, Randomised, Parallel-group, Placebo-controlled (Double Blind) and Active-controlled (Open) Trial to Compare the Efficacy and Safety of Once Weekly Dosing of NNC0195-0092 (Somapacitan) With Once Weekly Dosing of Placebo and Daily Norditropin® FlexPro® in Adults With Growth Hormone Deficiency for 35 Weeks, Followed by a 53-week Open-label Extension Period Completed NCT02229851 Phase 3 somapacitan;somatropin;placebo
45 Pegylated Somatropin in the Treatment of Children With Growth Hormone Deficient：A Multicenter, Randomized, Open-label, Controlled Phase Ⅲ Clinical Trial Completed NCT01495468 Phase 3
46 Confirmatory Validation of Oral Macimorelin as a Growth Hormone (GH) Stimulation Test (ST) for the Diagnosis of Adult Growth Hormone Deficiency (AGHD) in Comparison With the Insulin Tolerance Test (ITT) Completed NCT02558829 Phase 3 Macimorelin;Insulin
47 A Phase III, Multicentric, Open-label, Randomised, Comparative, Parallel Group Study of (GHRH + Arginine) Combination Test vs. Insulin Tolerance Test (ITT) in the Diagnosis of Adult Growth Hormone Deficiency (AGHD) Completed NCT01060488 Phase 3
48 A PHASE 3, RANDOMIZED, MULTICENTER, OPEN-LABEL, CROSSOVER STUDY ASSESSING SUBJECT PERCEPTION OF TREATMENT BURDEN WITH USE OF WEEKLY GROWTH HORMONE (SOMATROGON) VERSUS DAILY GROWTH HORMONE (GENOTROPIN (REGISTERED)) INJECTIONS IN CHILDREN WITH GROWTH HORMONE DEFICIENCY Recruiting NCT03831880 Phase 3 Genotropin;somatrogon
49 A Trial Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® in Children With Growth Hormone Deficiency Recruiting NCT03811535 Phase 3 Somapacitan;Norditropin®
50 The Efficacy, Safety and Tolerability of TransCon hGH Administered Weekly Versus Daily hGH in Prepubertal Children With Growth Hormone Deficiency: a Randomized, Open-lable, Active-controlled, Parallel-group Study in China Recruiting NCT04326374 Phase 3 TransCon hGH;daily hGH

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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Sources

Anatomical Context for Isolated Growth Hormone Deficiency

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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

40
Pituitary, Bone, Testes, Brain, B Cells, Heart, Thyroid
Sources

Publications for Isolated Growth Hormone Deficiency

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Articles related to Isolated Growth Hormone Deficiency:

(show top 50) (show all 827)
# Title Authors PMID Year
1
Growth retardation--an unexpected outcome from growth hormone gene therapy in normal mice with microencapsulated myoblasts. 54 61
8825869 1996
2
Pit-1 and pituitary function. 54 61
7920987 1993
3
Application of pyridostigmine in evaluation of growth hormone reserves in children and adolescents. 54 61
1874023 1991
4
[GH-secretion capacity in Turner syndrome and its relations to clinical characteristics and effect of GH treatment--a comparison with pituitary dwarfism. The Committee for hGH treatment in Turner syndrome]. 61 54
1868920 1991
5
Total hip arthroplasty combined with subtrochanteric shortening osteotomy for Crowe type IV hip dysplasia in dwarfism: a case report. 61
32366149 2020
6
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. 61
32462814 2020
7
Adult height prediction by bone age determination in children with isolated growth hormone deficiency. 61
32268296 2020
8
MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia. 61
32302394 2020
9
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. 61
31769495 2020
10
Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-eastern Region of Turkey 61
32157854 2020
11
p.R209H GH1 variant challenges short stature assessment. 61
31835104 2020
12
Nodding syndrome phenotypes. 61
31753452 2019
13
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. 61
31231873 2019
14
Systematic profiling of clinical missence mutation effects on the intermolecular interaction between human growth hormone and its receptor in isolated growth hormone deficiency. 61
31279174 2019
15
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF GROWTH HORMONE DEFICIENCY IN ADULTS AND PATIENTS TRANSITIONING FROM PEDIATRIC TO ADULT CARE. 61
31760824 2019
16
Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models. 61
31436800 2019
17
Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report 61
30678423 2019
18
Prevalence of diabetes among children treated with growth hormone in Israel. 61
30690790 2019
19
Effects of Therapy With Semi-occluded Vocal Tract and Choir Training on Voice in Adult Individuals With Congenital, Isolated, Untreated Growth Hormone Deficiency. 61
29567051 2019
20
Pituitary Stalk Interruption Syndrome. 61
31756884 2019
21
Periostin concentrations in childhood-onset craniopharyngioma patients. 61
30474798 2019
22
Isolated growth hormone deficiency presenting with recurrent hypoglycaemia in a toddler. 61
31352401 2019
23
Recurrent Severe Hypoglycemia due to Isolated Growth Hormone Deficiency. 61
31278235 2019
24
Auxological characteristics of pediatric patients with permanent or transient isolated growth hormone deficiency. Response to treatment and final height. 61
30772372 2019
25
[Efficacy and safety of replacement treatment in isolated growth hormone deficiency]. 61
29960877 2019
26
Formant Frequencies, Cephalometric Measures, and Pharyngeal Airway Width in Adults With Congenital, Isolated, and Untreated Growth Hormone Deficiency. 61
31147205 2019
27
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. 61
30988269 2019
28
Health and Lifestyle of Adult Patients with Congenital Isolated Growth Hormone Deficiency Treated in Childhood. 61
30905105 2019
29
Adult individuals with congenital, untreated, severe isolated growth hormone deficiency have satisfactory muscular function. 61
30251164 2019
30
Craniofacial morphology aspects in children with isolated growth hormone deficiency - a cephalometric study. 61
31658340 2019
31
Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review. 61
31678974 2019
32
Factors Affecting Loss to Follow-Up in Children and Adolescents with Chronic Endocrine Conditions. 61
32023623 2019
33
Relevance of Pituitary Gland Magnetic Resonance Imaging Results with Clinical and Laboratory Findings in Growth Hormone Deficiency. 61
30594946 2018
34
Immunological and microbiological periodontal profiles in isolated growth hormone deficiency. 61
29797719 2018
35
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. 61
30390533 2018
36
Growth hormone therapy in children born small for gestational age: results from the ANSWER program. 61
30139820 2018
37
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib 61
29537382 2018
38
Retinal Neural and Vascular Structure in Isolated Growth Hormone Deficiency Children and Evaluation of Growth Hormone Treatment Effect 61
29082892 2018
39
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. 61
29318530 2018
40
Pituitary height at magnetic resonance imaging in pediatric isolated growth hormone deficiency. 61
29508041 2018
41
Diagnostic Usefulness of Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor Binding Protein 3 in Children with Suspected Pituitary Dwarfism. 61
29739044 2018
42
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. 61
29255062 2018
43
A complex phenotype in a family with a pathogenic SOX3 missense variant. 61
29175558 2018
44
Choroidal thickness measurements in children with isolated growth hormone deficiency. 61
28912516 2018
45
Chronic endocrine consequences of traumatic brain injury - what is the evidence? 61
28885623 2018
46
Low Prevalence of Isolated Growth Hormone Deficiency in Patients After Brain Injury: Results From a Phase II Pilot Study. 61
30619080 2018
47
Effect of adherence to growth hormone treatment on 0-2 year catch-up growth in children with growth hormone deficiency. 61
30356273 2018
48
Clinical case seminar: Familial intracranial germinoma. 61
30379323 2018
49
Juvenile hyposomatotropism in a Somali cat presenting with seizures due to intermittent hypoglycaemia. 61
29552354 2018
50
Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family. 61
28626954 2017
Sources

Variations for Isolated Growth Hormone Deficiency

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ClinVar genetic disease variations for Isolated Growth Hormone Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GHRHR NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile)SNV Uncertain significance 360030 rs746565662 7:31011598-31011598 7:30971983-30971983
2 GH1 NM_000515.5(GH1):c.309C>T (p.Arg103=)SNV Uncertain significance 324453 rs886053236 17:61995267-61995267 17:63917907-63917907
3 BTK NM_001287344.1(BTK):c.*334_*335TG[4]short repeat Likely benign 367690 rs200445244 X:100604530-100604531 X:101349542-101349543
4 BTK NM_000061.2(BTK):c.*342T>GSNV Likely benign 367691 rs781937023 X:100604531-100604531 X:101349543-101349543
5 GH1 NM_000515.5(GH1):c.-63A>TSNV Likely benign 369218 rs695 17:61996199-61996199 17:63918839-63918839
6 GH1 NM_000515.5(GH1):c.-63A>CSNV Likely benign 369219 rs695 17:61996199-61996199 17:63918839-63918839
7 GH1 NM_000515.4(GH1):c.-68A>GSNV Likely benign 369220 rs6171 17:61996204-61996204 17:63918844-63918844
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
Relaxin signaling pathway 36
Show member pathways
 11.76 POU1F1 POMC IGF1 GHRHR GHRH GHR
2
Endochondral Ossification 1
10.94 IGF1 GHR GH1
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 nuclear chromatin GO:0000790 9.5 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
2 growth hormone receptor complex GO:0070195 8.62 GHR GH1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.13 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 SOX3 PROP1 POU1F1 POMC OTX2 LHX4
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 IGF1 GHR GH1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 IGF1 GHR GH1
5 response to food GO:0032094 9.59 GHRH GHR
6 determination of adult lifespan GO:0008340 9.58 POU1F1 GHRHR
7 hormone metabolic process GO:0042445 9.57 GHRHR GHR
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.56 GHR GH1
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 IGF1 GHRHR GHRH GH1
10 insulin-like growth factor receptor signaling pathway GO:0048009 9.55 IGF1 GHR
11 positive regulation of multicellular organism growth GO:0040018 9.55 POU1F1 GHRHR GHRH GHR GH1
12 growth hormone receptor signaling pathway GO:0060396 9.52 GHR GH1
13 positive regulation of growth hormone secretion GO:0060124 9.51 GHRHR GHRH
14 positive regulation of hormone secretion GO:0046887 9.49 GHRHR GHRH
15 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.46 POU1F1 GHRHR
16 somatotropin secreting cell differentiation GO:0060126 9.43 PROP1 POU1F1
17 somatotropin secreting cell development GO:0060133 9.37 POU1F1 GHRHR
18 medial motor column neuron differentiation GO:0021526 9.32 LHX4 LHX3
19 adenohypophysis development GO:0021984 9.26 PROP1 POU1F1 GHRHR GHRH
20 pituitary gland development GO:0021983 9.02 SOX3 PROP1 POU1F1 LHX3 HESX1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 PROP1 POU1F1 OTX2 LHX3 HESX1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 PROP1 POU1F1 OTX2 LHX4 LHX3
3 sequence-specific DNA binding GO:0043565 9.63 PROP1 POU1F1 OTX2 LHX4 LHX3 HESX1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 SOX3 PROP1 POU1F1 OTX2 LHX4 LHX3
5 hormone activity GO:0005179 8.92 POMC IGF1 GHRH GH1
Sources

Sources for Isolated Growth Hormone Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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