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IGHD
MCID: ISL003
MIFTS: 50

Isolated Growth Hormone Deficiency (IGHD)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases
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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 11 19 42 14 75
Non-Acquired Isolated Growth Hormone Deficiency 11 19 58
Congenital Isolated Growth Hormone Deficiency 11 19 58
Congenital Isolated Gh Deficiency 11 19 58
Congenital Ighd 11 19 58
Isolated Congenital Growth Hormone Deficiency 28 5
Isolated Somatotropin Deficiency 42 71
Dwarfism, Pituitary 42 43
Pituitary Dwarfism 16 71
Familial Isolated Growth Hormone Deficiency 11
Isolated Somatotropin Deficiency Disorder 42
Isolated Human Growth Hormone Deficiency 42
Dwarfism, Growth Hormone Deficiency 42
Growth Hormone Deficiency Dwarfism 42
Isolated Hgh Deficiency 42
Isolated Gh Deficiency 42
Dwarfism Pituitary 53
Ighd 11

Characteristics:


Inheritance:

Non-Acquired Isolated Growth Hormone Deficiency: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Non-Acquired Isolated Growth Hormone Deficiency: Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0060870
ICD9CM 34 253.3
MeSH 43 D004393
NCIt 49 C34555
SNOMED-CT 68 270485009
ICD10 31 E23.0
ICD10 via Orphanet 32 E23.0
UMLS via Orphanet 72 C0013338 C0271561
Orphanet 58 ORPHA631
SNOMED-CT via HPO 69 123983008 237836003
UMLS 71 C0013338 C3714796
Sources

Summaries for Isolated Growth Hormone Deficiency

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MedlinePlus Genetics: 42 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 iii and isolated growth hormone deficiency, type ib. An important gene associated with Isolated Growth Hormone Deficiency is LOC105980078 (IGHD Type 1A-2 Recombination Region). The drugs Arginine and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include pituitary, b cells and bone, and related phenotypes are delayed skeletal maturation and short stature

GARD: 19 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.

Orphanet: 58 A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.

Disease Ontology: 11 A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.

Wikipedia: 75 Isolated growth hormone deficiency (IGHD) is a rare congenital disorder characterized by growth hormone... more...
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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 232)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency type iii 33.4 SOX3 HESX1 GHRHR ESX1
2 isolated growth hormone deficiency, type ib 33.3 GHRHR GHRH GH1 GH-LCR
3 isolated growth hormone deficiency, type ii 33.0 SOX3 PROP1 POU1F1 HESX1 GHRHR GHRH
4 isolated growth hormone deficiency, type ia 32.7 RNU6ATAC RNU4ATAC PROP1 PCNT ORC6 ORC4
5 kowarski syndrome 32.6 GH1 GH-LCR
6 panhypopituitarism, x-linked 32.5 SOX3 LHX4
7 pituitary hormone deficiency, combined or isolated, 1 32.3 POU1F1 HESX1
8 growth hormone deficiency 32.0 SOX3 LOC108004536 LOC105980078 HESX1 GHRHR GH1
9 hypopituitarism 30.8 SOX3 RNU4ATAC PROP1 POU1F1 LHX4 HESX1
10 empty sella syndrome 30.7 PROP1 POU1F1 GH1
11 pituitary tumors 30.6 PROP1 GH1
12 craniopharyngioma 30.6 PROP1 POU1F1 GH1
13 optic nerve hypoplasia, bilateral 30.6 SOX3 HESX1 ESX1
14 acromegaly 30.5 GHRHR GHRH GH1
15 pituitary hypoplasia 30.5 SOX3 RNU4ATAC PROP1 POU1F1 LHX4 HESX1
16 hypothyroidism, congenital, nongoitrous, 4 30.4 PROP1 POU1F1 GH1
17 pituitary stalk interruption syndrome 30.3 LHX4 HESX1
18 pituitary hormone deficiency, combined, 2 30.3 SOX3 PROP1 POU1F1 LHX4 HESX1 GHRHR
19 hypothyroidism 30.2 PROP1 POU1F1 LHX4 HESX1 GHRH GH1
20 combined pituitary hormone deficiencies, genetic forms 30.2 PROP1 POU1F1 LHX4 HESX1
21 congenital hypothyroidism 29.7 PROP1 POU1F1 LHX4 HESX1 GHRH GH1
22 septooptic dysplasia 29.7 SOX3 PROP1 POU1F1 LHX4 HESX1 GHRHR
23 pituitary gland disease 29.4 SOX3 RNU6ATAC RNU4ATAC PROP1 POU1F1 LHX4
24 isolated growth hormone deficiency, type iii, with agammaglobulinemia 11.8
25 intellectual developmental disorder, x-linked, with panhypopituitarism 11.7
26 isolated growth hormone deficiency, type iv 11.7
27 pituitary hormone deficiency, combined or isolated, 7 11.6
28 pituitary hormone deficiency, combined, 3 11.3
29 pituitary dwarfism with large sella turcica 11.3
30 growth hormone insensitivity, partial 10.9
31 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
32 hypoglycemia 10.5
33 agammaglobulinemia, x-linked 10.5
34 agammaglobulinemia 10.5
35 insulin-like growth factor i 10.4
36 non-acquired panhypopituitarism 10.4 SOX3 PROP1
37 retina lymphoma 10.4 IGLL5 IGHV4-38-2
38 solitary osseous plasmacytoma 10.4 IGLL5 IGHV4-38-2
39 pituitary-dependent cushing's disease 10.3 GHRH GH1
40 hypothalamic disease 10.3 GHRH GH1
41 refractory plasma cell neoplasm 10.3 IGLL5 IGHV4-38-2
42 cornelia de lange syndrome 3 with or without midline brain defects 10.3 RNU6ATAC RNU4ATAC
43 genitourinary tract anomalies 10.3 ORC6 ORC4
44 macular dystrophy, patterned, 1 10.3 HESX1 ESX1
45 hyperpituitarism 10.3 GHRHR GHRH GH1
46 microtia 10.3 ORC6 ORC4
47 meier-gorlin syndrome 7 10.3 ORC6 ORC4
48 b cell deficiency 10.3 RNU4ATAC IGHV4-38-2 CCR6
49 hypothyroidism, central, with testicular enlargement 10.3 PROP1 POU1F1
50 functioning pituitary adenoma 10.3 POU1F1 GHRH GH1

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:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002750
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004322
3 anterior hypopituitarism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000830
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 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
2 Insulin, Globin Zinc Phase 4
3
Insulin Phase 4
4 Mitogens Phase 4
5 Hormone Antagonists Phase 4
6 Growth Hormone-Releasing Hormone Phase 4
7
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
8
Zinc cation Approved, Experimental, Investigational Phase 3 7440-66-6, 23713-49-7 32051
9
Clonidine Approved Phase 3 4205-91-8, 4205-90-7 2803 20179
10
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
11
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
12
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
13 Hypoglycemic Agents Phase 3
14 Neurotransmitter Agents Phase 3
15 Adrenergic alpha-Agonists Phase 3
16 Adrenergic Agonists Phase 3
17 Adrenergic Agents Phase 3
18 Antihypertensive Agents Phase 3
19 Analgesics Phase 3
20 Sympatholytics Phase 3
21 Immunoglobulins Phase 3
22 Antibodies Phase 3
23 Hormones Phase 2
24 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
25 Secretagogues Phase 2
26 Estrogens Phase 2
27
Nitric Oxide Approved 10102-43-9 145068
28
Hydrocortisone succinate Approved 2203-97-6 3643
29
Hydrocortisone acetate Approved, Vet_approved 50-03-3
30
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
31
Progesterone Approved, Vet_approved 57-83-0 5994
32
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605 16129706
33
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
34
Glucagon Approved 16941-32-5 16133228 16186314
35
Caffeine Approved 58-08-2 2519
36
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn 14838-15-4, 492-39-7 131954576 4786 26934
37
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
38
Dextromethorphan Approved 125-71-3 5362449 5360696
39
N,N-dimethylarginine Experimental 30315-93-6 123831
40 Anesthetics
41 Hydrocortisone 17-butyrate 21-propionate
42 Liver Extracts
43 Natriuretic Peptide, Brain
44 Epinephryl borate
45 Glucagon-Like Peptide 1
46 Incretins
47 Gastrointestinal Agents
48 Natriuretic Peptide, C-Type
49 Central Nervous System Stimulants
50 Phosphodiesterase Inhibitors

Interventional clinical trials:

(show top 50) (show all 142)
# 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 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
3 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 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 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
6 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)
7 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
8 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
9 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
10 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
11 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® )
12 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
13 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
14 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
15 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®)
16 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
17 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
18 Assessment of Cardiovascular Risk Markers in GH Deficient Patients With Nonsecreting Pituitary Adenomas Terminated NCT00720902 Phase 4 growth hormone releasing hormone (GHRH) & arginine
19 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
20 Treatment of Growth Hormone Deficiency Associated With Chronic Heart Failure: A Randomized, Double-Blind, Placebo-Controlled Study Unknown status NCT03775993 Phase 3 Human growth hormone
21 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 Unknown status NCT04326374 Phase 3 TransCon hGH;daily hGH
22 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
23 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
24 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
25 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
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 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
28 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
29 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 Completed NCT03831880 Phase 3 Genotropin;somatrogon
30 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
31 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
32 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
33 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
34 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
35 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
36 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
37 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
38 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
39 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
40 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
41 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
42 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®
43 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
44 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
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 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
47 Norditropin® and Norditropin® Cartridges: An Open-Label, Randomized, Comparative Safety and Efficacy Trial in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin
48 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
49 Multicenter, Open Label Trial to Investigate the Efficacy and Safety of a Single Oral Dose of 1.0 mg/kg Macimorelin Acetate as Growth Hormone Stimulation Test (GHST) in Pediatric Patients With Suspected Growth Hormone Deficiency (GHD) Recruiting NCT04786873 Phase 3 Macimorelin
50 foresiGHt: A Multicenter, Randomized, Parallel-arm, Placebo-controlled (Double- Blind) and Active-controlled (Open-label) Trial to Compare the Efficacy and Safety of Once-weekly Lonapegsomatropin With Placebo and a Daily Somatropin Product in Adults With Growth Hormone Deficiency Recruiting NCT04615273 Phase 3 Lonapegsomatropin;Somatropin

Search NIH Clinical Center for Isolated Growth Hormone Deficiency

Cochrane evidence based reviews: dwarfism, pituitary

Sources

Genetic Tests for Isolated Growth Hormone Deficiency

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Genetic tests related to Isolated Growth Hormone Deficiency:

# Genetic test Affiliating Genes
1 Isolated Congenital Growth Hormone Deficiency 28
Sources

Anatomical Context for Isolated Growth Hormone Deficiency

About this section

Organs/tissues related to Isolated Growth Hormone Deficiency:

MalaCards : Pituitary, B Cells, Bone, Brain, Heart, Endothelial, Liver
Sources

Publications for Isolated Growth Hormone Deficiency

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Articles related to Isolated Growth Hormone Deficiency:

(show top 50) (show all 1523)
# Title Authors PMID Year
1
Growth retardation--an unexpected outcome from growth hormone gene therapy in normal mice with microencapsulated myoblasts. 53 62
8825869 1996
2
Pit-1 and pituitary function. 53 62
7920987 1993
3
Application of pyridostigmine in evaluation of growth hormone reserves in children and adolescents. 53 62
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]. 53 62
1868920 1991
5
Distinct Immunogenetic Profiles of Chronic Lymphocytic Leukemia in Asia: A Taiwan Cooperative Oncology Group Registry Study. 62
36452029 2022
6
Single-cell atlas reveals a high selection of IgA1- or IgG1-expressing plasma cells in patients with psoriasis. 62
36459791 2022
7
Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report. 62
36387827 2022
8
Characterization of the tumour microenvironment phenotypes in malignant tissues and pleural effusion from advanced osteoblastic osteosarcoma patients. 62
36305631 2022
9
Characteristics of paediatric hypopituitarism patients in Latvia: a single-centre 25-year retrospective study. 62
36047289 2022
10
IL-4 receptor blockade is a global repressor of naïve B cell development and responses in a dupilumab-treated patient. 62
36189576 2022
11
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort. 62
36102184 2022
12
Decreased lifespan in female "Munchkin" actors from the cast of the 1939 film version of The Wizard of Oz does not support the hypothesis linking hypopituitary dwarfism to longevity. 62
36334178 2022
13
The importance of preserving the superior hypophyseal artery infundibular branch in craniopharyngioma surgery. 62
36355231 2022
14
The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome. 62
36394485 2022
15
Differences in inflammatory pathways between Dutch South Asians versus Dutch Europids with type 2 diabetes. 62
36262060 2022
16
Quantitative measures of the vascular and neural components of the retina in adult individuals with congenital and untreated growth hormone deficiency. 62
36183116 2022
17
IL-4-Induced Quiescence of Resting Naive B Cells Is Disrupted in Systemic Lupus Erythematosus. 62
36165181 2022
18
Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events. 62
35749012 2022
19
Attenuation of Human Growth Hormone-Induced Rash With Graded Dose Challenge. 62
36110455 2022
20
Comprehensive assessment of cardiovascular disease risk in children with short stature due to isolated growth hormone deficiency: a case-control study. 62
35822711 2022
21
The landscape of retesting in childhood-onset idiopathic growth hormone deficiency and its reversibility: a systematic review and meta-analysis. 62
35670597 2022
22
Growth of teeth and bones in adult subjects with congenital untreated isolated growth hormone deficiency. 62
35696752 2022
23
Association of IGHM polymorphisms with susceptibility to type 1 diabetes. 62
35048256 2022
24
Characterization of B cell receptor H-CDR3 repertoire of spleen in PRV-infected mice. 62
35715782 2022
25
Characterization of pituitary stem/progenitor cell populations in spontaneous dwarf rats. 62
35387959 2022
26
Art and science: impact of semioccluded vocal tract exercises and choral singing on quality of life in subjects with congenital GH deficiency. 62
35315986 2022
27
Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature. 62
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28
Pituitary Stalk Interruption Syndrome in a 54-year Adult Male. 62
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29
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant. 62
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Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. 62
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31
Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency. 62
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32
Dental arches in inherited severe isolated growth hormone deficiency. 62
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Heterogeneous origin of IgE in atopic dermatitis and psoriasis revealed by B cell receptor repertoire analysis. 62
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ImmunoTyper-SR: A Novel Computational Approach for Genotyping Immunoglobulin Heavy Chain Variable Genes using Short Read Data. 62
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Early growth hormone treatment accelerates delayed onset of puberty in patients with growth hormone deficiency. 62
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36
Exploration of Shared Gene Signatures and Molecular Mechanisms Between Periodontitis and Nonalcoholic Fatty Liver Disease. 62
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History of GH treatment in Japan. 62
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Next-Generation Sequencing Revealed a Distinct Immunoglobulin Repertoire with Specific Mutation Hotspots in Acute Myeloid Leukemia. 62
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Recurrent Novel P2RY8/IGH Translocations in B-Lymphoblastic Leukemia/Lymphoma. 62
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Delayed Recovery after Nonoperative Treatment of an Avulsion Fracture of the Ischial Tuberosity in an Adolescent Gymnast with a History of Growth Hormone Deficiency: A Case Report. 62
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Changes, limitations, and prospects of adult height in GH treatment for Japanese GHD patients. 62
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42
Adding T2-Weighted Images to FAST1 Protocol to Evaluate the Anatomy of the Hypothalamic-Pituitary Region. 62
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Thyroid function in children with short stature accompanied by isolated pituitary hypoplasia. 62
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44
Preliminary study of longitudinal changes in the pituitary and brain of children on growth hormone therapy. 62
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45
Intronic variant in POU1F1 associated with canine pituitary dwarfism. 62
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Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the GH1 Gene 62
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47
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases. 62
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48
Superior humeral head migration might be a radiological aid in diagnosing patients with adhesive capsulitis of the shoulder. 62
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49
A large-scale systematic survey of SARS-CoV-2 antibodies reveals recurring molecular features. 62
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50
Decreased Thyroxine Levels during rhGH Therapy in Children with Growth Hormone Deficiency. 62
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Sources

Variations for Isolated Growth Hormone Deficiency

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ClinVar genetic disease variations for Isolated Growth Hormone Deficiency:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH1, GH-LCR NM_000515.5(GH1):c.309C>T (p.Arg103=) SNV Uncertain Significance
 324453 rs886053236 GRCh37: 17:61995267-61995267
GRCh38: 17:63917907-63917907
2 GHRHR NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile) SNV Uncertain Significance
 360030 rs746565662 GRCh37: 7:31011598-31011598
GRCh38: 7:30971983-30971983
3 GH1, GH-LCR NM_000515.4(GH1):c.-68A>G SNV Likely Benign
 369220 rs6171 GRCh37: 17:61996204-61996204
GRCh38: 17:63918844-63918844
4 BTK NM_000061.3(BTK):c.*334TG[4] MICROSAT Likely Benign
 367690 rs200445244 GRCh37: X:100604530-100604531
GRCh38: X:101349542-101349543
5 GH1, GH-LCR NM_000515.5(GH1):c.-63A>T SNV Likely Benign
 369218 rs695 GRCh37: 17:61996199-61996199
GRCh38: 17:63918839-63918839
6 GH1, GH-LCR NM_000515.5(GH1):c.-63A>C SNV Likely Benign
 369219 rs695 GRCh37: 17:61996199-61996199
GRCh38: 17:63918839-63918839
Sources

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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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 origin of replication recognition complex GO:0005664 9.26 ORC6 ORC4
2 origin recognition complex GO:0000808 8.92 ORC6 ORC4

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of growth hormone secretion GO:0060124 9.73 GHRHR GHRH
2 positive regulation of multicellular organism growth GO:0040018 9.73 GHRHR GHRH GH1
3 growth hormone secretion GO:0030252 9.62 GHRHR GHRH
4 pituitary gland development GO:0021983 9.55 SOX3 PROP1 HESX1
5 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 GHRHR GHRH GH1
6 positive regulation of hormone secretion GO:0046887 9.4 GHRHR GHRH
7 hormone secretion GO:0046879 9.37 GHRHR GHRH
8 adenohypophysis development GO:0021984 9.1 PROP1 POU1F1 GHRHR GHRH

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.4 SOX3 PROP1 POU1F1 LHX4 HESX1 ESX1
Sources

Sources for Isolated Growth Hormone Deficiency

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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