IGHD1A
MCID: ISL014
MIFTS: 55

Isolated Growth Hormone Deficiency, Type Ia (IGHD1A)

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

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 56
Primordial Dwarfism 56 12 52 73 29 6
Isolated Growth Hormone Deficiency Type Ia 12 52 58 73 15
Sexual Ateleiotic Dwarfism 56 12 52 73
Pituitary Dwarfism I 56 12 73 71
Ighd Ia 56 12 52 73
Growth Hormone Deficiency, Isolated, Type Ia 56 13 39
Illig-Type Growth Hormone Deficiency 56 12 73
Ighd1a 56 52 73
Congenital Isolated Growth Hormone Deficiency Type Ia 52 58
Non-Acquired Isolated Growth Hormone Deficiency 52 58
Congenital Isolated Growth Hormone Deficiency 52 58
Congenital Isolated Gh Deficiency Type Ia 52 58
Congenital Isolated Gh Deficiency 52 58
Congenital Ighd Type Ia 52 58
Pituitary Dwarfism 1 74 52
Congenital Ighd 52 58
Growth Hormone Deficiency, Isolated, Autosomal Recessive 56
Growth Hormone Deficiency, Isolated Autosomal Recessive 52
Autosomal Recessive Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency Isolated Autosomal Recessive 73
Isolated Growth Hormone Deficiency Type 1a 52
Growth Hormone Deficiency, Isolated, 1a 73
Illig Type Growth Hormone Deficiency 52
Dwarfism, Primordial 39
Dwarfism 71

Characteristics:

Orphanet epidemiological data:

58
non-acquired isolated growth hormone deficiency
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal;
isolated growth hormone deficiency type ia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
isolated growth hormone deficiency, type ia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060873
OMIM 56 262400
OMIM Phenotypic Series 56 PS262400
MeSH 43 D004393
ICD10 32 E23.0
ICD10 via Orphanet 33 E23.0
UMLS via Orphanet 72 C0013338 C0271561
MedGen 41 C0342573
UMLS 71 C0013336 C0342573

Summaries for Isolated Growth Hormone Deficiency, Type Ia

OMIM : 56 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)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ia, also known as primordial dwarfism, is related to microcephalic osteodysplastic primordial dwarfism, type i and microcephalic osteodysplastic primordial dwarfism, type ii, 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 is Cell Cycle, Mitotic. The drugs Fentanyl and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and bone, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 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 Growth hormone deficiency, isolated, 1A: An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone.

Wikipedia : 74 Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH). Generally... 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 174)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 35.6 U2AF1 RNU6ATAC RNU4ATAC RNPC3
2 microcephalic osteodysplastic primordial dwarfism, type ii 35.5 RNU4ATAC PCNT CNTLN CEP152 CDK5RAP2
3 seckel syndrome 1 33.9 PCNT CNTLN CEP152
4 seckel syndrome 33.9 XRCC4 TRAIP RNU4ATAC POC1A PCNT ORC6
5 isolated growth hormone deficiency 33.9 U2AF1 RNU6ATAC RNU4ATAC RNPC3 PCNT H2AC18
6 seckel syndrome 2 33.8 PCNT DNA2 CNTLN CEP152 CDK5RAP2
7 meier-gorlin syndrome 1 33.7 TRAIP RNU4ATAC PCNT ORC6 ORC4 H2AC18
8 dwarfism 32.6 RNU4ATAC PCNT GH1 DNA2 CRIPT
9 microcephaly 31.9 XRCC4 TRAIP RNU4ATAC ORC6 ORC4 H2AC18
10 autosomal recessive disease 31.5 U2AF1 RNU4ATAC H2AC18 CRYAA CRIPT
11 primary microcephaly 31.4 XRCC4 PCNT H2AC18 CNTLN CEP152 CDK5RAP2
12 brachydactyly 31.2 RNU6ATAC RNU4ATAC POC1A H2AC18
13 heart septal defect 31.0 U2AF1 RNU4ATAC H2AC18
14 seckel syndrome 8 31.0 DNA2 CEP152
15 odontochondrodysplasia 31.0 U2AF1 RNU6ATAC RNU4ATAC PCNT H2AC18
16 microcephalic osteodysplastic primordial dwarfism, type iii 12.7
17 microcephalic primordial dwarfism, toriello type 12.7
18 microcephalic primordial dwarfism-insulin resistance syndrome 12.5
19 microcephalic primordial dwarfism, montreal type 12.5
20 alazami syndrome 12.4
21 microcephaly, short stature, and polymicrogyria with or without seizures 11.7
22 seckel syndrome 7 11.7
23 silver-russell syndrome 1 11.7
24 meier-gorlin syndrome 6 11.7
25 laron syndrome 11.6
26 isolated growth hormone deficiency, type ib 11.6
27 microcephaly 10, primary, autosomal recessive 11.5
28 isolated growth hormone deficiency, type ii 11.4
29 isolated growth hormone deficiency type iii 11.4
30 meier-gorlin syndrome 2 11.4
31 meier-gorlin syndrome 3 11.4
32 meier-gorlin syndrome 4 11.4
33 meier-gorlin syndrome 5 11.4
34 roifman syndrome 11.4
35 meier-gorlin syndrome 7 11.4
36 meier-gorlin syndrome 8 11.4
37 autosomal dominant non-syndromic intellectual disability 27 10.7 LARP7 CRIPT
38 genitourinary tract anomalies 10.7 ORC6 ORC4
39 microcephaly 6, primary, autosomal recessive 10.7 CNTLN CEP152 CDK5RAP2
40 microcephaly 5, primary, autosomal recessive 10.7 H2AC18 CEP152 CDK5RAP2
41 uterine corpus cancer 10.7 U2AF1 H2AC18 BRCA2
42 microcephaly 3, primary, autosomal recessive 10.7 CNTLN CEP152 CDK5RAP2
43 cornelia de lange syndrome 3 with or without midline brain defects 10.7 RNU6ATAC RNU4ATAC
44 pituitary gland disease 10.7 RNU4ATAC H2AC18 GH1
45 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.6 CNTLN CEP152 CDK5RAP2
46 autosomal recessive cerebellar ataxia 10.6 XRCC4 U2AF1 H2AC18 BRCA2
47 microcephaly 8, primary, autosomal recessive 10.6 CEP152 CDK5RAP2
48 uveal disease 10.6 U2AF1 H2AC18 CRYAA
49 seckel syndrome 4 10.6 PCNT CNTLN CEP152 CDK5RAP2
50 muscle tissue disease 10.6 U2AF1 RNU4ATAC H2AC18 CRYAA

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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 anterior hypopituitarism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000830
4 hypoglycemia 31 HP:0001943
5 abnormality of the face 31 HP:0000271
6 abnormality of the immune system 31 HP:0002715
7 severe short stature 31 HP:0003510
8 pituitary dwarfism 31 HP:0000839
9 impaired growth-hormone response to insulin stimulation test 31 HP:0031079

Symptoms via clinical synopsis from OMIM:

56
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

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


back pain, sciatica, muscle cramp

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 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Imatinib Mesylate Phase 4 220127-57-1 123596
4 Hormone Antagonists Phase 4
5 Anesthetics Phase 4
6 Anesthetics, Local Phase 4
7 Antineoplastic Agents, Hormonal Phase 4
8 Contraceptive Agents Phase 4
9 Triptorelin Pamoate Phase 4
10
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
11
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
12
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
13
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181 3911
14
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
15
tannic acid Approved Phase 3 1401-55-4
16
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
17
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
18 Pharmaceutical Solutions Phase 3
19 Estrogen Antagonists Phase 3
20 Estrogen Receptor Antagonists Phase 3
21 Aromatase Inhibitors Phase 3
22 Natriuretic Peptide, C-Type Phase 3
23 Chelating Agents Phase 2, Phase 3
24 Hypoglycemic Agents Phase 3
25 Immunoglobulins Phase 3
26 Antibodies Phase 3
27
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
28
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
29
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
30
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
32
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
33
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
34 Anabolic Agents Phase 2
35 Androgens Phase 2
36 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
37 Prolactin Release-Inhibiting Factors Phase 2
38 Estrogens Phase 2
39 Vitamins Phase 1, Phase 2
40 Nutrients Phase 1, Phase 2
41 Micronutrients Phase 1, Phase 2
42 Trace Elements Phase 1, Phase 2
43 Vitamin B Complex Phase 1, Phase 2
44 Hypolipidemic Agents Phase 1, Phase 2
45 Vitamin B3 Phase 1, Phase 2
46 Nicotinic Acids Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Vasodilator Agents Phase 1, Phase 2
49 Folate Phase 1, Phase 2
50 Vitamin B9 Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 224)
# 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 Randomization to Letrozole vs. Anastrozole in Short Pubertal Males Unknown status NCT02137538 Phase 4 Letrozole;Anastrozole
4 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
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 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
7 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
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 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
10 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)
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 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
13 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
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;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 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
17 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
18 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
19 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
20 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
21 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
22 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
23 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® )
24 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
25 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 Recruiting NCT04082676 Phase 4 Hyperbaric bupivacaine spinal;Hyperbaric bupivacaine spinal
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 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
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 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
30 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]
31 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
32 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
33 Treatment With Recombinant Human Growth Hormone (Genotonorm®) In Children With Short Stature Secondary To A Long Term Corticoid Therapy. A Study of Efficacy and Safety. Completed NCT00174278 Phase 3 Somatropin
34 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
35 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
36 Phase III Clinical Trial for Assessment of Efficacy and Safety of DA-3002 (Recombinant Human Growth Hormone) in Patients With Turner's Syndrome Completed NCT01813630 Phase 3 DA-3002;Genotropin®
37 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
38 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
39 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
40 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
41 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
42 Open, Multi-Center, Controlled, Randomized Phase III Clinical Trial to Evaluate the Efficacy and Safety of DA-3002(Recombinant Humn Growth Hormone)Treatment in Children With Idiopathic Short Stature Completed NCT01786902 Phase 3 DA-3002
43 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
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 Phase III Study of Humatrope in Non-Growth Hormone Deficient Children With Short Stature Completed NCT00191074 Phase 3 somatropin, rDNA origin, for injection
46 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)
47 Multicenter, Open-Label Study Assessing Dyad (Subject And Caregiver) Perception Of Convenience And Preference Of The Newly Developed Mark VII Injection Pen Completed NCT00965484 Phase 3
48 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
49 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
50 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

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

Genetic tests related to Isolated Growth Hormone Deficiency, Type Ia:

# Genetic test Affiliating Genes
1 Primordial Dwarfism 29

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ia

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

40
Pituitary, Testes, Bone, Brain, Heart, Endothelial, Kidney

Publications for Isolated Growth Hormone Deficiency, Type Ia

Articles related to Isolated Growth Hormone Deficiency, Type Ia:

(show top 50) (show all 309)
# Title Authors PMID Year
1
Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. 61 56
1603635 1992
2
Primordial dwarfism and ectopia lentis. 56 61
14388006 1955
3
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. 56
24450934 2014
4
Genetic screening of a Dutch population with isolated GH deficiency (IGHD). 6
18785993 2009
5
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. 6
18554279 2008
6
Growth hormone replacement therapy in adults with growth hormone deficiency improves maximal oxygen consumption independently of dosing regimen or physical activity. 56
17956953 2008
7
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. 6
17785368 2007
8
Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. 6
17726075 2007
9
Isolated growth hormone deficiency. 56
17965963 2007
10
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 6
16368751 2006
11
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? 56
16060904 2005
12
Common carotid intima-media thickness in growth hormone (GH)-deficient adolescents: a prospective study after GH withdrawal and restarting GH replacement. 56
15713715 2005
13
Effects of one year of recombinant human growth hormone (GH) therapy on cardiac mass and function in children with classical GH deficiency. 56
12970269 2003
14
Reduced longevity in untreated patients with isolated growth hormone deficiency. 56
12915652 2003
15
A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. 6
12574219 2003
16
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. 56
12414875 2002
17
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. 6
12000366 2002
18
An exon splice enhancer mutation causes autosomal dominant GH deficiency. 6
11836331 2002
19
Linear growth characteristics of congenitally GH-deficient infants from birth to one year of age. 56
11739421 2001
20
Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency. 56
11095449 2000
21
A simple test for growth hormone deficiency in adults. 56
10770184 2000
22
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. 6
10689634 2000
23
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. 6
10678654 2000
24
Four decades of growth hormone therapy for short children: what have we achieved? 56
10599680 1999
25
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. 56
10566659 1999
26
Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. 6
10469016 1999
27
A Japanese family with autosomal dominant growth hormone deficiency. 6
10445339 1999
28
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. 56
10404812 1999
29
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. 56
10372694 1999
30
Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. 6
10372722 1999
31
Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults. 56
10199773 1999
32
Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. 6
9700205 1998
33
Effects of eight months treatment with graded doses of a growth hormone (GH)-releasing peptide in GH-deficient children. 56
9661608 1998
34
De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency? 6
9578959 1998
35
Genetic defects in the control of growth hormone secretion. 6
9554464 1998
36
The Australian Multicenter Trial of Growth Hormone (GH) Treatment in GH-Deficient Adults. 56
9435425 1998
37
Effects of luteinizing hormone-releasing hormone analog-induced pubertal delay in growth hormone (GH)-deficient children treated with GH: preliminary results. 56
9398701 1997
38
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. 56
9329385 1997
39
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. 56
9329386 1997
40
Why retest young adults with childhood-onset growth hormone deficiency? 56
9215268 1997
41
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. 56
9215272 1997
42
A novel mechanism of aberrant pre-mRNA splicing in humans. 6
9175738 1997
43
Is growth hormone deficiency a viable diagnosis? 56
9024216 1997
44
Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth Study Group. 56
9024229 1997
45
A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. French Serono Study Group. 56
9024235 1997
46
Biochemical tests in the diagnosis of childhood growth hormone deficiency. 56
9024249 1997
47
Mechanisms responsible for dominant expression of human growth hormone gene mutations. 6
8923859 1996
48
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study. 6
8530604 1995
49
An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA. 6
7567462 1995
50
Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. 6
7714096 1995

Variations for Isolated Growth Hormone Deficiency, Type Ia

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

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GH1 GH1, 1-BP DEL, 371Cdeletion Pathogenic 15965
2 GH1 GH1, 6.7-KB DELdeletion Pathogenic 15964
3 GH1 GH1, 2-BP DEL, FS132TERdeletion Pathogenic 15962
4 GH1 NM_000515.5(GH1):c.59G>A (p.Trp20Ter)SNV Pathogenic 15963 rs137853219 17:61995818-61995818 17:63918458-63918458
5 POC1A NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)SNV Pathogenic 37062 rs397514487 3:52183866-52183866 3:52149850-52149850
6 BRCA2 NM_000059.3(BRCA2):c.9152del (p.Pro3051fs)deletion Pathogenic 127241 rs587779349 13:32954177-32954177 13:32380040-32380040
7 XRCC4 NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)SNV Pathogenic 127246 rs587779351 5:82400865-82400865 5:83105046-83105046
8 CRIPT NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)insertion Pathogenic 127249 rs587779356 2:46846815-46846816 2:46619676-46619677
9 CRIPT NM_014171.6(CRIPT):c.141del (p.Phe47fs)deletion Pathogenic 127250 rs587779348 2:46850904-46850904 2:46623765-46623765
10 DNA2 NM_001080449.3(DNA2):c.3114+6deldeletion Pathogenic 143932 rs587777614 10:70176460-70176460 10:68416703-68416703
11 GHRHR NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile)SNV Uncertain significance 360030 rs746565662 7:31011598-31011598 7:30971983-30971983
12 GH1 NM_000515.5(GH1):c.309C>T (p.Arg103=)SNV Uncertain significance 324453 rs886053236 17:61995267-61995267 17:63917907-63917907
13 BTK NM_001287344.1(BTK):c.*334_*335TG[4]short repeat Likely benign 367690 rs200445244 X:100604530-100604531 X:101349542-101349543
14 BTK NM_000061.2(BTK):c.*342T>GSNV Likely benign 367691 rs781937023 X:100604531-100604531 X:101349543-101349543
15 GH1 NM_000515.5(GH1):c.-63A>TSNV Likely benign 369218 rs695 17:61996199-61996199 17:63918839-63918839
16 GH1 NM_000515.5(GH1):c.-63A>CSNV Likely benign 369219 rs695 17:61996199-61996199 17:63918839-63918839
17 GH1 NM_000515.4(GH1):c.-68A>GSNV Likely benign 369220 rs6171 17:61996204-61996204 17:63918844-63918844
18 GH1 NM_000515.5(GH1):c.-4T>GSNV Benign/Likely benign 324460 rs6173 17:61996140-61996140 17:63918780-63918780
19 GH1 NM_000515.5(GH1):c.7A>G (p.Thr3Ala)SNV Benign/Likely benign 289503 rs2001345 17:61996130-61996130 17:63918770-63918770

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
Show member pathways
12.39 PCNT ORC6 ORC4 H2AC18 DNA2 CEP152

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 nucleoplasm GO:0005654 10.11 XRCC4 U2AF1 RNPC3 ORC6 ORC4 LARP7
2 microtubule organizing center GO:0005815 9.65 POC1A PCNT CEP152 CDK5RAP2 BRCA2
3 nuclear chromosome, telomeric region GO:0000784 9.58 ORC4 DNA2 BRCA2
4 pericentriolar material GO:0000242 9.43 CEP152 CDK5RAP2
5 nuclear origin of replication recognition complex GO:0005664 9.32 ORC6 ORC4
6 centriole GO:0005814 9.26 POC1A PCNT CNTLN CEP152
7 origin recognition complex GO:0000808 9.16 ORC6 ORC4
8 centrosome GO:0005813 9.1 POC1A PCNT CNTLN CEP152 CDK5RAP2 BRCA2

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

# Name GO ID Score Top Affiliating Genes
1 response to X-ray GO:0010165 9.32 XRCC4 BRCA2
2 centriole replication GO:0007099 9.26 CEP152 CDK5RAP2
3 centrosome duplication GO:0051298 9.16 CEP152 BRCA2
4 ciliary basal body-plasma membrane docking GO:0097711 9.13 PCNT CEP152 CDK5RAP2
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.8 PCNT CEP152 CDK5RAP2

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

# Name GO ID Score Top Affiliating Genes
1 pre-mRNA 5'-splice site binding GO:0030627 8.62 RNU6ATAC RNU4ATAC

Sources for Isolated Growth Hormone Deficiency, Type Ia

3 CDC
7 CNVD
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11 DGIdb
17 EFO
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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