IGHD1A
MCID: ISL014
MIFTS: 58

Isolated Growth Hormone Deficiency, Type Ia (IGHD1A)

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ia

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type Ia:

Name: Isolated Growth Hormone Deficiency, Type Ia 57
Isolated Growth Hormone Deficiency Type Ia 11 19 58 73 14
Ighd Ia 57 11 19 73 5
Sexual Ateleiotic Dwarfism 57 11 19 73
Pituitary Dwarfism I 57 11 73 71
Primordial Dwarfism 57 11 19 73
Growth Hormone Deficiency, Isolated, Type Ia 57 12 38
Illig-Type Growth Hormone Deficiency 57 11 73
Ighd1a 57 19 73
Congenital Isolated Growth Hormone Deficiency Type Ia 19 58
Congenital Isolated Gh Deficiency Type Ia 19 58
Congenital Ighd Type Ia 19 58
Pituitary Dwarfism 1 19 75
Growth Hormone Deficiency, Isolated, Autosomal Recessive 57
Growth Hormone Deficiency, Isolated Autosomal Recessive 19
Autosomal Recessive Isolated Growth Hormone Deficiency 11
Growth Hormone Deficiency Isolated Autosomal Recessive 73
Non-Acquired Isolated Growth Hormone Deficiency 19
Congenital Isolated Growth Hormone Deficiency 19
Isolated Growth Hormone Deficiency Type 1a 19
Growth Hormone Deficiency, Isolated, 1a 73
Illig Type Growth Hormone Deficiency 19
Congenital Isolated Gh Deficiency 19
Dwarfism, Primordial 38
Congenital Ighd 19
Dwarfism 71

Characteristics:


Inheritance:

Isolated Growth Hormone Deficiency, Type Ia: Autosomal recessive 57
Isolated Growth Hormone Deficiency Type Ia: Autosomal recessive 58

Age Of Onset:

Isolated Growth Hormone Deficiency Type Ia: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0060873
OMIM® 57 262400
OMIM Phenotypic Series 57 PS262400
MeSH 43 D004393
ICD10 31 E23.0
ICD10 via Orphanet 32 E23.0
Orphanet 58 ORPHA231662
MedGen 40 C0342573
UMLS 71 C0013336 C0342573

Summaries for Isolated Growth Hormone Deficiency, Type Ia

OMIM®: 57 Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014). (262400) (Updated 08-Dec-2022)

MalaCards based summary: Isolated Growth Hormone Deficiency, Type Ia, also known as isolated growth hormone deficiency type ia, is related to microcephalic osteodysplastic primordial dwarfism, type i and seckel syndrome, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Isolated Growth Hormone Deficiency, Type Ia is GH1 (Growth Hormone 1), and among its related pathways/superpathways are G-protein signaling_RhoA regulation pathway and Neural Stem Cells and Lineage-specific Markers. The drugs Letrozole and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and brain, and related phenotypes are hypoglycemia and depressed nasal ridge

Disease Ontology: 11 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.

UniProtKB/Swiss-Prot: 73 An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone.

Wikipedia: 75 Growth hormone deficiency (GHD), or human growth hormone deficiency, is a medical condition resulting... more...

Related Diseases for Isolated Growth Hormone Deficiency, Type Ia

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

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 33.7 RNU6ATAC RNU4ATAC RNPC3
2 seckel syndrome 33.2 XRCC4 RNU4ATAC POC1A DNA2 BRCA2
3 isolated growth hormone deficiency, type ib 32.8 GHRHR GHRH GH1 GH-LCR
4 laron syndrome 32.8 IGF1 GHRHR GHR GH1
5 isolated growth hormone deficiency 32.7 RNU6ATAC RNU4ATAC RNPC3 POC1A IGF1 GHRHR
6 isolated growth hormone deficiency, type ii 32.5 IGF1 GHRHR GHRH GH1 GH-LCR
7 microcephaly 31.9 XRCC4 RNU4ATAC FGFR3 DYM DNA2 CRIPT
8 growth hormone deficiency 31.5 RNPC3 GHRHR GH1
9 osteochondrodysplasia 31.3 SOX9 SHOX RNU6ATAC RNU4ATAC NPR2 NPPC
10 scoliosis 31.1 SOX9 SHOX NPR2 IGF1 GHR GH1
11 turner syndrome 30.9 SHOX IGF1 GHR GH1
12 insulin-like growth factor i 30.9 IGF1 GHRH GHR GH1
13 acanthosis nigricans 30.8 IGF1 GH1 FGFR3
14 brachydactyly 30.8 SOX9 RNU6ATAC RNU4ATAC POC1A NPR2 GHRH
15 hypoglycemia 30.8 IGF1 GHRH GHR GH1
16 acromegaly 30.7 IGF1 GHRHR GHRH GHR GH1
17 three m syndrome 1 30.5 SHOX RNU4ATAC POC1A IGF1 GHR CRIPT
18 hypothyroidism 30.5 IGF1 GHRH GHR GH1
19 hypopituitarism 30.5 RNU4ATAC RNPC3 IGF1 GHRHR GHRH GHR
20 microcephalic osteodysplastic primordial dwarfism, type ii 12.1
21 alazami syndrome 11.7
22 microcephalic primordial dwarfism, montreal type 11.6
23 microcephaly 10, primary, autosomal recessive 11.6
24 microcephalic osteodysplastic primordial dwarfism, type iii 11.6
25 primordial dwarfism-immunodeficiency-lipodystrophy syndrome 11.5
26 microcephalic primordial dwarfism, toriello type 11.5
27 seckel syndrome 7 11.5
28 meier-gorlin syndrome 1 11.4
29 seckel syndrome 1 11.4
30 seckel syndrome 2 11.4
31 isolated growth hormone deficiency type iii 11.3
32 microcephalic primordial dwarfism-insulin resistance syndrome 11.2
33 silver-russell syndrome 1 11.1
34 lowry-wood syndrome 11.1
35 meier-gorlin syndrome 6 11.1
36 meier-gorlin syndrome 2 11.1
37 meier-gorlin syndrome 3 11.1
38 meier-gorlin syndrome 4 11.1
39 meier-gorlin syndrome 5 11.1
40 meier-gorlin syndrome 7 11.1
41 meier-gorlin syndrome 8 11.1
42 donson-related microcephaly-short stature-limb abnormalities spectrum 11.1
43 moyamoya disease 1 10.5
44 hypothalamic disease 10.5 IGF1 GHRH GH1
45 kowarski syndrome 10.5 GH1 GH-LCR
46 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.5 NPR2 NPPC FGFR3
47 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.4 NPR2 NPPC FGFR3
48 functioning pituitary adenoma 10.4 IGF1 GHRH GH1
49 spondyloepiphyseal dysplasia congenita 10.4 RNU4ATAC FGFR3 DYM
50 lissencephaly, x-linked, 2 10.4 IGF1 GHRHR GHRH

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



Diseases related to Isolated Growth Hormone Deficiency, Type Ia

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ia

Human phenotypes related to Isolated Growth Hormone Deficiency, Type Ia:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoglycemia 30 Very rare (1%) HP:0001943
2 depressed nasal ridge 30 Very rare (1%) HP:0000457
3 high forehead 30 Very rare (1%) HP:0000348
4 prolonged neonatal jaundice 30 Very rare (1%) HP:0006579
5 severe short stature 30 Very rare (1%) HP:0003510
6 persistent open anterior fontanelle 30 Very rare (1%) HP:0004474
7 decreased serum insulin-like growth factor 1 30 Very rare (1%) HP:0030353
8 reduced circulating growth hormone concentration 30 Very rare (1%) HP:0034323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Metabolic:
hypoglycemia

Growth:
sexual ateleiotic dwarfism

Immunol:
antibodies to administered growth hormone

Lab:
isolated growth hormone deficiency

Facies:
puppet (baby doll) facies

Clinical features from OMIM®:

262400 (Updated 08-Dec-2022)

UMLS symptoms related to Isolated Growth Hormone Deficiency, Type Ia:


back pain; sciatica; muscle cramp

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency, Type Ia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.21 BRCA2 DYM FGFR3 GH1 GHR GHRH
2 growth/size/body region MP:0005378 10.21 BRCA2 DYM FGFR3 GH1 GHR GHRH
3 endocrine/exocrine gland MP:0005379 10.13 BRCA2 DYM GH1 GHR GHRH GHRHR
4 reproductive system MP:0005389 10.07 BRCA2 DYM FGFR3 GH1 GHR GHRH
5 limbs/digits/tail MP:0005371 10.06 BRCA2 DYM FGFR3 GHR GHRHR IGF1
6 skeleton MP:0005390 9.93 BRCA2 DYM FGFR3 GHR GHRH GHRHR
7 hematopoietic system MP:0005397 9.73 BRCA2 CRIPT DYM FGFR3 GH1 GHR
8 mortality/aging MP:0010768 9.47 BRCA2 CRIPT DNA2 DYM FGFR3 GH1

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ia

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

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
2
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
6
Imatinib Mesylate Phase 4 220127-57-1
7 Anesthetics Phase 4
8 Estrogen Receptor Antagonists Phase 4
9 Estrogen Antagonists Phase 4
10 Aromatase Inhibitors Phase 4
11 Anesthetics, Local Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Contraceptive Agents Phase 4
14
Triptorelin Pamoate Phase 4
15 Hormone Antagonists Phase 4
16 Growth Hormone-Releasing Hormone Phase 4
17
Zinc cation Approved, Experimental, Investigational Phase 2, Phase 3 7440-66-6, 23713-49-7 32051
18
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
19
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181
20
Clonidine Approved Phase 3 4205-91-8, 4205-90-7 2803 20179
21
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
22
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
23
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
24 Estrogens Phase 3
25 Chelating Agents Phase 2, Phase 3
26 Hypoglycemic Agents Phase 3
27 Neurotransmitter Agents Phase 3
28 Adrenergic alpha-Agonists Phase 3
29 Adrenergic Agonists Phase 3
30 Adrenergic Agents Phase 3
31 Antihypertensive Agents Phase 3
32 Analgesics Phase 3
33 Sympatholytics Phase 3
34 Immunoglobulins Phase 3
35 Antibodies Phase 3
36
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
37
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
39
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
40
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6 25077495
41 Anabolic Agents Phase 2
42 Androgens Phase 2
43 Prolactin Release-Inhibiting Factors Phase 2
44 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
45 Secretagogues Phase 2
46 Natriuretic Peptide, C-Type Phase 2
47 Vitamins Phase 1, Phase 2
48 Folate Phase 1, Phase 2
49 Vitamin B9 Phase 1, Phase 2
50 Vitamin B3 Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 228)
# 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 ASSESSMENT OF GH-IGF1 AXIS AND TO STUDY RESPONSE TO GH THERAPY IN CHILDREN WITH CML IN REMISSION HAVING GH DEFICIENCY Unknown status NCT01901666 Phase 4 Growth Hormone
4 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
5 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
6 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
7 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)
8 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
9 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
10 Randomization to Letrozole vs. Anastrozole in Short Pubertal Males Completed NCT02137538 Phase 4 Letrozole;Anastrozole
11 One Arm, Open Study to Assess Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
12 Effect of Height Versus Height and Weight Based Intrathecal Bupivacaine Dose on Maternal Haemodynamics for Elective Caesarean Section in Short Stature Patients: A Randomized Trial Completed NCT04082676 Phase 4 Hyperbaric bupivacaine spinal
13 A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device Completed NCT03015909 Phase 4 Somatropin
14 Long Term Study Of Pnu-180307 For Short Children Born Small For Gestational Age (Sga) Without Epiphyseal Closure (Extension Of The Study 307-met-0021-002) Completed NCT01859949 Phase 4 Genotropin (somatropin)
15 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
16 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
17 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
18 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® )
19 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
20 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
21 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
22 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
23 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
24 The Influence of Growth Hormone (GH) Therapy on Short Stature Related Distress a Prospective Randomized Controlled Trial Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
25 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®)
26 Efficacy and Safety of a 4 Year Combination Therapy of Growth Hormone and Gonadotropin- Releasing Hormone Agonist in Children With a Short Predicted Height. Active, not recruiting NCT00840944 Phase 4 somatropin;triptorelin
27 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
28 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
29 Assessment of Cardiovascular Risk Markers in GH Deficient Patients With Nonsecreting Pituitary Adenomas Terminated NCT00720902 Phase 4 growth hormone releasing hormone (GHRH) & arginine
30 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
31 Predictive Value of Baseline and Stimulated Serum IGF-1 and IGFBP-3 During a Dose-escalation IGF-1 Generation Test for the 1 Year Growth Response to Growth Hormone (GH) Therapy in Short Children With Low IGF-1 and a Normal GH Peak in a Provocation Test Withdrawn NCT01438801 Phase 4 Nutropin [Somatropin (rDNA origin) for injection]
32 Phase 2 Study of Efficacy and Safety of rhGH (Jintropin®) in Pediatric Participants With ISS (Idiopathic Short Stature): a 52-week Multicenter, Open-label, Randomized, Negative Controlled Study Followed by a 52-week Open-label Period Unknown status NCT03635580 Phase 3
33 A Phase 3 Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Short Stature Children Due to Chronic Kidney Disease Before Transplantation Unknown status NCT03535415 Phase 3 Recombinant Human Growth Hormone Injection (rhGH)
34 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
35 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
36 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
37 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
38 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
39 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)
40 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
41 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
42 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
43 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
44 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
45 A Four Year Open Label Multi Center Randomized Two Arm Study Of Genotropin In Idiopathic Short Stature Patients: Comparing An Individualized, Target Driven Treatment Regimen To Standard Dosing Of Genotropin Completed NCT00396097 Phase 3 Genotropin
46 A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
47 Effect of Weekly Zinc Chelate Supplementation on Schoolchildren's Growth: a Randomized Double-blind Controlled Trial Completed NCT01911260 Phase 2, Phase 3
48 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
49 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
50 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

Search NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Growth Hormone
somatrem
Somatropin
SOMATROPIN (RECOMBINANT DNA ORIGIN)

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ia

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ia

Organs/tissues related to Isolated Growth Hormone Deficiency, Type Ia:

MalaCards : Pituitary, Bone, Brain, Skeletal Muscle, Heart, Endothelial, Liver

Publications for Isolated Growth Hormone Deficiency, Type Ia

Articles related to Isolated Growth Hormone Deficiency, Type Ia:

(show top 50) (show all 543)
# Title Authors PMID Year
1
Genomic analysis of primordial dwarfism reveals novel disease genes. 62 5
24389050 2014
2
Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. 62 57
1603635 1992
3
Use of polymerase chain reaction in detection of growth hormone gene deletions. 62 5
2347891 1990
4
Primordial dwarfism and ectopia lentis. 62 57
14388006 1955
5
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. 57
24450934 2014
6
Growth hormone replacement therapy in adults with growth hormone deficiency improves maximal oxygen consumption independently of dosing regimen or physical activity. 57
17956953 2008
7
Isolated growth hormone deficiency. 57
17965963 2007
8
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? 57
16060904 2005
9
Common carotid intima-media thickness in growth hormone (GH)-deficient adolescents: a prospective study after GH withdrawal and restarting GH replacement. 57
15713715 2005
10
Effects of one year of recombinant human growth hormone (GH) therapy on cardiac mass and function in children with classical GH deficiency. 57
12970269 2003
11
Reduced longevity in untreated patients with isolated growth hormone deficiency. 57
12915652 2003
12
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes. 57
12414875 2002
13
Linear growth characteristics of congenitally GH-deficient infants from birth to one year of age. 57
11739421 2001
14
Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency. 57
11095449 2000
15
A simple test for growth hormone deficiency in adults. 57
10770184 2000
16
Four decades of growth hormone therapy for short children: what have we achieved? 57
10599680 1999
17
Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life. 57
10566659 1999
18
Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. 57
10404812 1999
19
Recent status in the occurrence of leukemia in growth hormone-treated patients in Japan. GH Treatment Study Committee of the Foundation for Growth Science, Japan. 57
10372694 1999
20
Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults. 57
10199773 1999
21
Effects of eight months treatment with graded doses of a growth hormone (GH)-releasing peptide in GH-deficient children. 57
9661608 1998
22
The Australian Multicenter Trial of Growth Hormone (GH) Treatment in GH-Deficient Adults. 57
9435425 1998
23
Effects of luteinizing hormone-releasing hormone analog-induced pubertal delay in growth hormone (GH)-deficient children treated with GH: preliminary results. 57
9398701 1997
24
Oral administration of growth hormone (GH) releasing peptide-mimetic MK-677 stimulates the GH/insulin-like growth factor-I axis in selected GH-deficient adults. 57
9329386 1997
25
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. 57
9329385 1997
26
Why retest young adults with childhood-onset growth hormone deficiency? 57
9215268 1997
27
Serum bone alkaline phosphatase isoenzyme levels in normal children and children with growth hormone (GH) deficiency: a potential marker for bone formation and response to GH therapy. 57
9215272 1997
28
A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. French Serono Study Group. 57
9024235 1997
29
Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth Study Group. 57
9024229 1997
30
Is growth hormone deficiency a viable diagnosis? 57
9024216 1997
31
Biochemical tests in the diagnosis of childhood growth hormone deficiency. 57
9024249 1997
32
Human growth hormone (hGH) secretion in milk of goats after direct transfer of the hGH gene into the mammary gland by using replication-defective retrovirus vectors. 57
8041706 1994
33
Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. 57
8288694 1994
34
A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. 5
8364549 1993
35
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. 5
8496314 1993
36
Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity? 57
3005192 1985
37
Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. 57
6958982 1982
38
Molecular basis for familial isolated growth hormone deficiency. 57
6273867 1981
39
Recessively inherited growth hormone deficiency in a family from Iraq. 57
7205905 1980
40
Anthropometric measurements in patients with growth hormone deficiency before treatment with human growth hormone. 57
7389741 1980
41
Aetiology of idiopathic growth hormone deficiency in England and Wales. 57
848998 1977
42
Clinical and pathological studies in a growth hormone-deficient dwarf. 57
1117599 1975
43
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. 57
4705937 1973
44
Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). 57
5483099 1970
45
Hypopituitary dwarfism. The importance of early therapy. 57
4974043 1968
46
Hereditary pituitary dwarfism with spontaneous puberty. 57
5642983 1968
47
Growth-hormone deficiency in man: an isolated, recessively inherited defect. 57
4287048 1966
48
Primary site of gene action in anterior pituitary dwarf mice. 57
13807990 1960
49
Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). 53 62
18367997 2008
50
Molecular basis of familial growth hormone deficiency. 53 62
7868072 1994

Variations for Isolated Growth Hormone Deficiency, Type Ia

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type Ia:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH1, GH-LCR NM_000515.5(GH1):c.59G>A (p.Trp20Ter) SNV Pathogenic
15963 rs137853219 GRCh37: 17:61995818-61995818
GRCh38: 17:63918458-63918458
2 XRCC4 NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) SNV Pathogenic
127246 rs587779351 GRCh37: 5:82400865-82400865
GRCh38: 5:83105046-83105046
3 CRIPT NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) INSERT Pathogenic
127249 rs587779356 GRCh37: 2:46846815-46846816
GRCh38: 2:46619676-46619677
4 GH1 GH1, 6.7-KB DEL DEL Pathogenic
15964 GRCh37:
GRCh38:
5 GH1, GH-LCR NM_000515.5(GH1):c.245_246del (p.Glu82fs) MICROSAT Pathogenic
15962 GRCh37: 17:61995422-61995423
GRCh38: 17:63918062-63918063
6 GH1, GH-LCR NM_000515.5(GH1):c.52del (p.Leu18fs) DEL Pathogenic
15965 GRCh37: 17:61995825-61995825
GRCh38: 17:63918465-63918465
7 CRIPT NM_014171.6(CRIPT):c.141del (p.Phe47fs) DEL Pathogenic
127250 rs587779348 GRCh37: 2:46850904-46850904
GRCh38: 2:46623765-46623765
8 BRCA2 NM_000059.4(BRCA2):c.9152del (p.Pro3051fs) DEL Pathogenic
127241 rs587779349 GRCh37: 13:32954177-32954177
GRCh38: 13:32380040-32380040
9 POC1A NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) SNV Likely Pathogenic
37062 rs397514487 GRCh37: 3:52183866-52183866
GRCh38: 3:52149850-52149850
10 DNA2 NM_001080449.3(DNA2):c.3114+6del DEL Likely Pathogenic
143932 rs587777614 GRCh37: 10:70176460-70176460
GRCh38: 10:68416703-68416703
11 CSHL1, GH1, GH-LCR NM_000515.5(GH1):c.11-8C>T SNV Uncertain Significance
1723212 GRCh37: 17:61995874-61995874
GRCh38: 17:63918514-63918514
12 GH1, GH-LCR NM_000515.5(GH1):c.502A>T (p.Thr168Ser) SNV Uncertain Significance
982612 rs771280061 GRCh37: 17:61994821-61994821
GRCh38: 17:63917461-63917461
13 GH1, GH-LCR NM_000515.5(GH1):c.217A>G (p.Asn73Asp) SNV Uncertain Significance
431860 rs71640276 GRCh37: 17:61995451-61995451
GRCh38: 17:63918091-63918091
14 GH1, GH-LCR NM_000515.5(GH1):c.588G>A (p.Met196Ile) SNV Uncertain Significance
1030836 rs1907385621 GRCh37: 17:61994735-61994735
GRCh38: 17:63917375-63917375
15 GH1, GH-LCR NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) INDEL Uncertain Significance
1033063 rs1907477324 GRCh37: 17:61995473-61995480
GRCh38: 17:63918113-63918120
16 GH1, GH-LCR NM_000515.5(GH1):c.-4T>G SNV Benign
324460 rs6173 GRCh37: 17:61996140-61996140
GRCh38: 17:63918780-63918780
17 GH1, GH-LCR NM_000515.5(GH1):c.7A>G (p.Thr3Ala) SNV Benign
289503 rs2001345 GRCh37: 17:61996130-61996130
GRCh38: 17:63918770-63918770

Copy number variations for Isolated Growth Hormone Deficiency, Type Ia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 69817 12 56300000 66000000 Microdeletion HMGA2 Dwarfism
2 69819 12 56300000 66000000 Microdeletion LEMD3 Dwarfism

Expression for Isolated Growth Hormone Deficiency, Type Ia

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

Pathways for Isolated Growth Hormone Deficiency, Type Ia

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

# Super pathways Score Top Affiliating Genes
1 11.25 IGF1 GHRH GH1 FGFR3
2 11.23 SOX9 IGF1 FGFR3
3
Show member pathways
11.12 SOX9 IGF1 GHR GH1 FGFR3
4 10.56 SOX9 NPR2 FGFR3

GO Terms for Isolated Growth Hormone Deficiency, Type Ia

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

# Name GO ID Score Top Affiliating Genes
1 growth hormone receptor complex GO:0070195 8.92 GHR GH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.06 SOX9 SHOX IGF1 FGFR3
2 cGMP biosynthetic process GO:0006182 9.87 NPR2 NPPC
3 receptor guanylyl cyclase signaling pathway GO:0007168 9.86 NPR2 NPPC
4 positive regulation of growth hormone secretion GO:0060124 9.85 GHRHR GHRH
5 positive regulation of cGMP-mediated signaling GO:0010753 9.78 NPR2 NPPC
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 IGF1 GHR GH1 FGFR3
7 growth hormone secretion GO:0030252 9.73 GHRHR GHRH
8 regulation of multicellular organism growth GO:0040014 9.73 NPPC IGF1 GHR
9 negative regulation of oocyte maturation GO:1900194 9.71 NPPC NPR2
10 adenohypophysis development GO:0021984 9.7 GHRHR GHRH
11 bone maturation GO:0070977 9.67 GH1 FGFR3
12 negative regulation of meiotic cell cycle GO:0051447 9.62 NPR2 NPPC
13 positive regulation of multicellular organism growth GO:0040018 9.56 GHRHR GHRH GHR GH1
14 positive regulation of hormone secretion GO:0046887 9.54 GHRHR GHRH
15 hormone secretion GO:0046879 9.51 GHRHR GHRH
16 reproductive process GO:0022414 9.49 NPR2 NPPC
17 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.23 IGF1 GHRHR GHRH GH1

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone binding GO:0017046 9.43 GHR GHRHR NPR2
2 hormone activity GO:0005179 9.17 NPPC IGF1 GHRH GH1

Sources for Isolated Growth Hormone Deficiency, Type Ia

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
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