Isolated Growth Hormone Deficiency, Type Ia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IGHD1A MCID: ISL014 MIFTS: 58	Isolated Growth Hormone Deficiency, Type Ia (IGHD1A) Categories: Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

Hypofunction and other disorders of pituitary gland

Hypopituitarism

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

SNOMED-CT via HPO ⁶⁹ 237630007 237836003 237837007 more

UMLS ⁷¹ C0013336 C0342573

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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...

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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:

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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	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

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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

Letrozole

Approved, Investigational

Phase 4

112809-51-5

3902

Anastrozole

Approved, Investigational

Phase 4

120511-73-1

2187

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

Arginine

Approved, Investigational, Nutraceutical

Phase 4

74-79-3

6322

Imatinib Mesylate

Phase 4

220127-57-1

Anesthetics

Phase 4

Estrogen Receptor Antagonists

Phase 4

Estrogen Antagonists

Phase 4

Aromatase Inhibitors

Phase 4

Anesthetics, Local

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Contraceptive Agents

Phase 4

Triptorelin Pamoate

Phase 4

Hormone Antagonists

Phase 4

Growth Hormone-Releasing Hormone

Phase 4

Zinc cation

Approved, Experimental, Investigational

Phase 2, Phase 3

7440-66-6, 23713-49-7

32051

Sorbitol

Approved, Investigational

Phase 3

69-65-8, 50-70-4

453 6251 5780

Leuprolide

Approved, Investigational

Phase 3

53714-56-0

657181

Clonidine

Approved

Phase 3

4205-91-8, 4205-90-7

2803 20179

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 3

1401-55-4

16129878 16129778

Glycine

Approved, Nutraceutical, Vet_approved

Phase 3

56-40-6

750

Estrogens

Phase 3

Chelating Agents

Phase 2, Phase 3

Hypoglycemic Agents

Phase 3

Neurotransmitter Agents

Phase 3

Adrenergic alpha-Agonists

Phase 3

Adrenergic Agonists

Phase 3

Adrenergic Agents

Phase 3

Antihypertensive Agents

Phase 3

Analgesics

Phase 3

Sympatholytics

Phase 3

Immunoglobulins

Phase 3

Antibodies

Phase 3

Oxandrolone

Approved, Investigational

Phase 2

53-39-4

5878

Nicotinamide

Approved, Investigational

Phase 1, Phase 2

98-92-0

936

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 1, Phase 2

59-30-3

6037

Niacin

Approved, Investigational, Nutraceutical

Phase 1, Phase 2

59-67-6

938

Deslorelin

Investigational, Vet_approved

Phase 2

57773-65-6

25077495

Anabolic Agents

Phase 2

Androgens

Phase 2

Prolactin Release-Inhibiting Factors

Phase 2

N-(2-aminoethyl)-5-isoquinolinesulfonamide

Phase 2

Secretagogues

Phase 2

Natriuretic Peptide, C-Type

Phase 2

Vitamins

Phase 1, Phase 2

Folate

Phase 1, Phase 2

Vitamin B9

Phase 1, Phase 2

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)

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Genetic Tests for Isolated Growth Hormone Deficiency, Type Ia

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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

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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	Shaheen R...Alkuraya FS	24389050	2014
2	Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. ⁶² ⁵⁷	Mullis PE...Brook CG	1603635	1992
3	Use of polymerase chain reaction in detection of growth hormone gene deletions. ⁶² ⁵	Vnencak-Jones CL...Wang DF	2347891	1990
4	Primordial dwarfism and ectopia lentis. ⁶² ⁵⁷	McKUSICK VA	14388006	1955
5	Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. ⁵⁷	Alatzoglou KS...Dattani MT	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	Hartman ML...Merriam GR	17956953	2008
7	Isolated growth hormone deficiency. ⁵⁷	Hernandez LM...Camacho-Hubner C	17965963	2007
8	Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? ⁵⁷	Dattani MT	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	Colao A...Lombardi G	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	Shulman DI...Boucek RJ	12970269	2003
11	Reduced longevity in untreated patients with isolated growth hormone deficiency. ⁵⁷	Besson A...Mullis PE	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	Osorio MG...Arnhold IJ	12414875	2002
13	Linear growth characteristics of congenitally GH-deficient infants from birth to one year of age. ⁵⁷	Pena-Almazan S...MacGillivray M	11739421	2001
14	Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency. ⁵⁷	Martinez AS...Heinrich JJ	11095449	2000
15	A simple test for growth hormone deficiency in adults. ⁵⁷	Mahajan T...Lightman SL	10770184	2000
16	Four decades of growth hormone therapy for short children: what have we achieved? ⁵⁷	Guyda HJ	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	Aguiar-Oliveira MH...Clayton PE	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	Chen S...Czernichow P	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	Nishi Y...Watanabe S	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	Maghnie M...Severi F	10199773	1999
21	Effects of eight months treatment with graded doses of a growth hormone (GH)-releasing peptide in GH-deficient children. ⁵⁷	Mericq V...Merriam GR	9661608	1998
22	The Australian Multicenter Trial of Growth Hormone (GH) Treatment in GH-Deficient Adults. ⁵⁷	Cuneo RC...Hurley D	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	Cassorla F...Cutler GB	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	Chapman IM...Thorner MO	9329386	1997
25	Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. ⁵⁷	Pinto G...Brauner R	9329385	1997
26	Why retest young adults with childhood-onset growth hormone deficiency? ⁵⁷	de Boer H...van der Veen EA	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	Tobiume H...Seino Y	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	Rappaport R...Soskin S	9024235	1997
29	Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth Study Group. ⁵⁷	Blethen SL...Johanson A	9024229	1997
30	Is growth hormone deficiency a viable diagnosis? ⁵⁷	Rosenfeld RG	9024216	1997
31	Biochemical tests in the diagnosis of childhood growth hormone deficiency. ⁵⁷	Tillmann V...Clayton PE	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	Archer JS...Bremel RD	8041706	1994
33	Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. ⁵⁷	Phillips JA...Cogan JD	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	Igarashi Y...Koga J	8364549	1993
35	Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. ⁵	Cogan JD...Milner RD	8496314	1993
36	Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity? ⁵⁷	Laron Z...Parks JS	3005192	1985
37	Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. ⁵⁷	Palmiter RD...Evans RM	6958982	1982
38	Molecular basis for familial isolated growth hormone deficiency. ⁵⁷	Phillips JA...Zachmann M	6273867	1981
39	Recessively inherited growth hormone deficiency in a family from Iraq. ⁵⁷	Donaldson MD...Grant DB	7205905	1980
40	Anthropometric measurements in patients with growth hormone deficiency before treatment with human growth hormone. ⁵⁷	Zachmann M...Prader A	7389741	1980
41	Aetiology of idiopathic growth hormone deficiency in England and Wales. ⁵⁷	Rona RJ...Tanner JM	848998	1977
42	Clinical and pathological studies in a growth hormone-deficient dwarf. ⁵⁷	Merimee TJ...Aisner SC	1117599	1975
43	Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. ⁵⁷	Leisti J...Aula P	4705937	1973
44	Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). ⁵⁷	Illig R	5483099	1970
45	Hypopituitary dwarfism. The importance of early therapy. ⁵⁷	Moe PJ	4974043	1968
46	Hereditary pituitary dwarfism with spontaneous puberty. ⁵⁷	Seip M...Trygstad O	5642983	1968
47	Growth-hormone deficiency in man: an isolated, recessively inherited defect. ⁵⁷	Rimoin DL...Mc Kusick VA	4287048	1966
48	Primary site of gene action in anterior pituitary dwarf mice. ⁵⁷	CARSNER RL...RENNELS EG	13807990	1960
49	Insulin-like growth factor-I treatment of children with Laron syndrome (primary growth hormone insensitivity). ⁵³ ⁶²	Laron Z	18367997	2008
50	Molecular basis of familial growth hormone deficiency. ⁵³ ⁶²	Perez Jurado LA...Argente J	7868072	1994

Sources

Genes for Isolated Growth Hormone Deficiency, Type Ia

Genes related to Isolated Growth Hormone Deficiency, Type Ia (6 elite genes):

(show top 50) (show all 70)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GH1	Growth Hormone 1	Protein Coding	1263.27	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	2347891 8364549 8496314 (more) 19762173 22139958 9002989 8670892 1360909 1853675 1824501 1524552 7678425 10822217 1999489 9030971 18757483 8840279 2018424 2128202 18404972 8875435 17410470 7868072 19755405 8514622 10417975 8853444
2	CRIPT	CXXC Repeat Containing Interactor Of PDZ3 Domain	Protein Coding	406.49	Pathogenic ⁵ DISEASES inferred ¹⁴
3	XRCC4	X-Ray Repair Cross Complementing 4	Protein Coding	405.73	Pathogenic ⁵ DISEASES inferred ¹⁴	24389050
4	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	403.93	Pathogenic ⁵ DISEASES inferred ¹⁴	24389050
5	GH-LCR	Growth Hormone Locus Control Region	Functional Element	400	Pathogenic ⁵	8364549 8496314
6	RNPC3	RNA Binding Region (RNP1, RRM) Containing 3	Protein Coding	356.43	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	24480542
7	POC1A	POC1 Centriolar Protein A	Protein Coding	32.55	Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	DNA2	DNA Replication Helicase/Nuclease 2	Protein Coding	30.68	Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	RNU4ATAC	RNA, U4atac Small Nuclear	RNA Gene	16.23	DISEASES inferred ¹⁴ ¹⁴
10	GHRHR	Growth Hormone Releasing Hormone Receptor	Protein Coding	14.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10549302 10084571 19733620 (more) 11145605 9814493 11025190 9554464 8875435 12788864 9401536
11	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	14.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12354143 10587515 11181569 (more) 12929929 17561467 8949408 11114733 12816345 15946934 15843401 16912704 18093889 20053668 10425034 14671399 12687892 9151669 15194433 14871928 12424440 12009017 9887329 15748888 12378581 11518810 10571691 16634636 14606518 12821644 10890199 10200283 19838370 12461689 11406607 10932008 10611230 17375526 16950849 16463380 7913883 8640234 10607835 14702637 17154237 19802676 9784595
12	GHR	Growth Hormone Receptor	Protein Coding	12.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	2307733 8496320 9371826 (more) 1752341 1740488 1281121 7680834 10670759 7939185 8137822 1557221 2018424 2147483 18404972 9030971 7509216 1999489 2233903 16121806 8361502 11025190 9258809 1955503 1699961 8853444 1719554 2074091 1373347 1524552 16129095
13	SHOX	Short Stature Homeobox	Protein Coding	12.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9590292 18228171 11260213 (more) 15214013
14	IGF1	Insulin Like Growth Factor 1	Protein Coding	12.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1349669 1934530 1659764 (more) 1373347 1490658 1806240 1740488 8853447 8514622 15562823 2133621 18404972 2233903 17410470 18367997 11964019 7678425 8300045 1362849 2023608 18757483 17320443 15094866 9371826 8374676 2004558 2239085 9714752 18359741 9207075 7680834 19117781 1934534
15	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	11.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16291870 16716628 18945719
16	GHRH	Growth Hormone Releasing Hormone	Protein Coding	10.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	2239085 9002989 10084578 (more) 1296432
17	RNU6ATAC	RNA, U6atac Small Nuclear	RNA Gene	10.61	DISEASES inferred ¹⁴ ¹⁴
18	NPPC	Natriuretic Peptide C	Protein Coding	10.07	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17681481 14702637 17116261
19	SOX9	SRY-Box Transcription Factor 9	Protein Coding	9.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8782821 11430871
20	DYM	Dymeclin	Protein Coding	9.42	Novoseek inferred ⁵³	18996921
21	ACAN	Aggrecan	Protein Coding	8.82	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12975605
22	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	8.73	Novoseek inferred ⁵³	15531542 10773688 19524124 (more) 16909451 10549300
23	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	8.41	Novoseek inferred ⁵³	8579896 9832466 11297619 (more) 19061984
24	PCNT	Pericentrin	Protein Coding	8.3	DISEASES inferred ¹⁴
25	ORC4	Origin Recognition Complex Subunit 4	Protein Coding	7.96	DISEASES inferred ¹⁴
26	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	7.89	DISEASES inferred ¹⁴ ¹⁴
27	ORC6	Origin Recognition Complex Subunit 6	Protein Coding	7.82	DISEASES inferred ¹⁴
28	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	7.73	Novoseek inferred ⁵³	12792737 17307347
29	CEP152	Centrosomal Protein 152	Protein Coding	7.52	DISEASES inferred ¹⁴
30	SMPD3	Sphingomyelin Phosphodiesterase 3	Protein Coding	7.51	Novoseek inferred ⁵³	17591962
31	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	7.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1373347 10670759
32	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	7.49	Novoseek inferred ⁵³	8579896 10487664 11021773 (more) 8703170 12929929
33	CENPJ	Centromere Protein J	Protein Coding	7.26	DISEASES inferred ¹⁴
34	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	7.26	Novoseek inferred ⁵³	10745044
35	H2AC18	H2A Clustered Histone 18	Protein Coding	7.23	DISEASES inferred ¹⁴ ¹⁴
36	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	7.23	DISEASES inferred ¹⁴
37	CNTLN	Centlein	Protein Coding	7.16	DISEASES inferred ¹⁴
38	RTTN	Rotatin	Protein Coding	7.14	DISEASES inferred ¹⁴
39	CRYAA	Crystallin Alpha A	Protein Coding	7.14	DISEASES inferred ¹⁴ ¹⁴
40	RNU12-2P	RNA, U12 Small Nuclear 2, Pseudogene	Pseudogene	7.09	DISEASES inferred ¹⁴
41	WDR4	WD Repeat Domain 4	Protein Coding	7.08	DISEASES inferred ¹⁴
42	CDT1	Chromatin Licensing And DNA Replication Factor 1	Protein Coding	7.06	DISEASES inferred ¹⁴
43	LARP7	La Ribonucleoprotein 7, Transcriptional Regulator	Protein Coding	7.04	DISEASES inferred ¹⁴
44	TRAIP	TRAF Interacting Protein	Protein Coding	6.92	DISEASES inferred ¹⁴
45	CDC6	Cell Division Cycle 6	Protein Coding	6.89	DISEASES inferred ¹⁴
46	NSMCE2	NSE2 (MMS21) Homolog, SMC5-SMC6 Complex SUMO Ligase	Protein Coding	6.86	DISEASES inferred ¹⁴
47	RNU11	RNA, U11 Small Nuclear	RNA Gene	6.75	DISEASES inferred ¹⁴
48	CEP63	Centrosomal Protein 63	Protein Coding	6.66	DISEASES inferred ¹⁴
49	CDC45	Cell Division Cycle 45	Protein Coding	6.56	DISEASES inferred ¹⁴
50	PLK4	Polo Like Kinase 4	Protein Coding	6.56	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Isolated Growth Hormone Deficiency, Type Ia

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

Sources

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	G-protein signaling_RhoA regulation pathway ²²	11.25	IGF1 GHRH GH1 FGFR3
2	Neural Stem Cells and Lineage-specific Markers ⁶⁵	11.23	SOX9 IGF1 FGFR3
3	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.12	SOX9 IGF1 GHR GH1 FGFR3
4	FGFR3 signaling in chondrocyte proliferation and terminal differentiation ⁷⁴	10.56	SOX9 NPR2 FGFR3

Sources

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