MCID: ISL014
MIFTS: 57

Isolated Growth Hormone Deficiency, Type Ia

Categories: Genetic diseases, Rare diseases, Endocrine 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 57
Primordial Dwarfism 57 12 53 75 29 6
Isolated Growth Hormone Deficiency Type Ia 12 53 59 75 15
Sexual Ateleiotic Dwarfism 57 12 53 75
Pituitary Dwarfism I 57 12 75 73
Ighd Ia 57 12 53 75
Growth Hormone Deficiency, Isolated, Type Ia 57 13 40
Illig-Type Growth Hormone Deficiency 57 12 75
Ighd1a 57 53 75
Congenital Isolated Growth Hormone Deficiency Type Ia 53 59
Congenital Isolated Gh Deficiency Type Ia 53 59
Congenital Ighd Type Ia 53 59
Pituitary Dwarfism 1 76 53
Growth Hormone Deficiency, Isolated, Autosomal Recessive 57
Growth Hormone Deficiency, Isolated Autosomal Recessive 53
Autosomal Recessive Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency Isolated Autosomal Recessive 75
Non-Acquired Isolated Growth Hormone Deficiency 53
Congenital Isolated Growth Hormone Deficiency 53
Isolated Growth Hormone Deficiency Type 1a 53
Growth Hormone Deficiency, Isolated, 1a 75
Illig Type Growth Hormone Deficiency 53
Congenital Isolated Gh Deficiency 53
Dwarfism, Primordial 40
Congenital Ighd 53
Dwarfism 73

Characteristics:

Orphanet epidemiological data:

59
isolated growth hormone deficiency type ia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
isolated growth hormone deficiency, type ia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 262400
Disease Ontology 12 DOID:0060873
ICD10 33 E23.0
Orphanet 59 ORPHA231662
ICD10 via Orphanet 34 E23.0
MedGen 42 C0342573
MeSH 44 D004393

Summaries for Isolated Growth Hormone Deficiency, Type Ia

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.

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, muscle cramp and sciatica. An important gene associated with Isolated Growth Hormone Deficiency, Type Ia is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cell Cycle Checkpoints. The drugs Anastrozole and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and testes, and related phenotypes are abnormality of the face and pituitary dwarfism

UniProtKB/Swiss-Prot : 75 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 : 76 Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH). Generally... more...

Description from OMIM: 262400

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 all 50)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type i 34.2 PCNT RNPC3 RNU4ATAC
2 microcephalic osteodysplastic primordial dwarfism, type ii 34.1 CNTLN PCNT
3 dwarfism 31.2 CRIPT DNA2 GH1 PCNT RNU4ATAC
4 seckel syndrome 30.9 CNTLN DNA2 ORC4 PCNT RNU4ATAC RTTN
5 meier-gorlin syndrome 1 30.7 CDC6 CDT1 ORC4 ORC6 PCNT RNU4ATAC
6 microcephaly 27.6 CDT1 CRIPT KATNB1 ORC4 ORC6 RTTN
7 microcephalic primordial dwarfism, toriello type 12.5
8 microcephalic osteodysplastic primordial dwarfism, type iii 12.4
9 microcephalic primordial dwarfism, montreal type 12.2
10 microcephalic primordial dwarfism-insulin resistance syndrome 12.1
11 alazami syndrome 11.8
12 seckel syndrome 1 11.6
13 isolated growth hormone deficiency 11.6
14 seckel syndrome 2 11.3
15 laron syndrome 11.3
16 isolated growth hormone deficiency, type ib 11.3
17 microcephaly 10, primary, autosomal recessive 11.2
18 microcephaly, short stature, and polymicrogyria with or without seizures 11.0
19 seckel syndrome 7 11.0
20 silver-russell syndrome 11.0
21 meier-gorlin syndrome 2 11.0
22 meier-gorlin syndrome 3 11.0
23 meier-gorlin syndrome 4 11.0
24 meier-gorlin syndrome 5 11.0
25 meier-gorlin syndrome 6 11.0
26 meier-gorlin syndrome 7 11.0
27 meier-gorlin syndrome 8 11.0
28 type i 10.5
29 growth hormone deficiency 10.2
30 moyamoya disease 1 10.1
31 intracranial aneurysm 10.1
32 cerebritis 10.1
33 skeletal dysplasias 10.1
34 aneurysm 10.1
35 insulin-like growth factor i 9.9
36 diabetes mellitus, noninsulin-dependent 9.9
37 dubowitz syndrome 9.9
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 cataract 9.9
40 craniosynostosis 9.9
41 hepatitis 9.9
42 osteopoikilosis 9.9
43 cholestasis 9.9
44 cerebrovascular disease 9.9
45 neuronitis 9.9
46 12q14 microdeletion syndrome 9.9
47 neuronal migration disorders 9.9
48 microlissencephaly 9.9
49 microtia 9.8 CDT1 ORC6
50 genitourinary tract anomalies 9.4 CDC6 CDT1 ORC4 ORC6

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

Symptoms via clinical synopsis from OMIM:

57
Growth:
sexual ateleiotic dwarfism

Facies:
puppet (baby doll) facies

Lab:
isolated growth hormone deficiency

Metabolic:
hypoglycemia

Immunol:
antibodies to administered growth hormone


Clinical features from OMIM:

262400

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the face 32 HP:0000271
2 pituitary dwarfism 32 HP:0000839
3 hypoglycemia 32 HP:0001943
4 abnormality of the immune system 32 HP:0002715
5 severe short stature 32 HP:0003510

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


back pain, muscle cramp, sciatica

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 CDT1 DNA2 WDR4 XRCC4 BRCA2

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 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 120511-73-1 2187
2
Letrozole Approved, Investigational Phase 4,Phase 3 112809-51-5 3902
3 Deslorelin Investigational, Vet_approved Phase 4,Phase 2 57773-65-6
4 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
5 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
7 Imatinib Mesylate Phase 4 220127-57-1 123596
8 insulin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
9 Insulin, Globin Zinc Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
10 Mitogens Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
11 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
13 Aromatase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14 Estrogen Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
15 Estrogens Phase 4,Phase 3,Phase 2,Not Applicable
16 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
17 Growth Hormone-Releasing Hormone Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Contraceptive Agents Phase 4,Phase 3
19 Luteolytic Agents Phase 4
20 Triptorelin Pamoate Phase 4
21
Zinc Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 7440-66-6 23994
22
Benzocaine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
23
Clonidine Approved Phase 3 4205-90-7 2803
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
25 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
26
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
27
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
28
Polyestradiol phosphate Approved Phase 3 28014-46-2
29
Gefitinib Approved, Investigational Phase 2, Phase 3 184475-35-2 123631
30 tannic acid Approved, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable
31
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 9860744
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
33
Niacin Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1 59-67-6 938
34
Nicotinamide Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1 98-92-0 936
35 Hypoglycemic Agents Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1
36 Chelating Agents Phase 2, Phase 3
37 Micronutrients Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
38 Trace Elements Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
39 Adjuvants, Immunologic Phase 3
40 Adrenergic Agents Phase 3,Phase 2
41 Adrenergic Agonists Phase 3
42 Adrenergic alpha-2 Receptor Agonists Phase 3
43 Adrenergic alpha-Agonists Phase 3
44 Analgesics Phase 3,Phase 2,Not Applicable
45 Antihypertensive Agents Phase 3
46 Autonomic Agents Phase 3,Phase 2
47 Neurotransmitter Agents Phase 3,Phase 2
48 Peripheral Nervous System Agents Phase 3,Phase 2,Not Applicable
49 Sympatholytics Phase 3
50 Antibodies Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 356)
# Name Status NCT ID Phase Drugs
1 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
2 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
3 Short Stature Related Distress Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
4 Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
5 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
6 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
7 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
8 Long Term Study of Genotropin (Somatropin) for Short Children Born Small for Gestational Age (SGA) Completed NCT01859949 Phase 4 Genotropin (somatropin)
9 Long Term Effect of Somatropin in Subjects With Intrauterine Growth Retardation Completed NCT01734447 Phase 4 somatropin;somatropin;somatropin
10 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
11 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
12 Safety and Efficacy of SR-hGH (Sustained-release Human Growth Hormone, Declage Inj.) Completed NCT01605331 Phase 4 sustained-release recombinant human GH (SR-rhGH)
13 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
14 Easypod United States User Trial Completed NCT00689260 Phase 4
15 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Completed NCT02311894 Phase 4 Somatropin
16 An Open-label Phase 4 Study to Explore 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®)
17 Comparison of Two Growth Hormone Dosing Methods in Adults With Growth Hormone Deficiency Completed NCT00490191 Phase 4 Somatropin
18 Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Completed NCT00990340 Phase 4
19 Growth Hormone and Glucose Metabolism Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
20 Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT00567385 Phase 4 somatropin
21 IGF1 Generation Test Completed NCT00145457 Phase 4
22 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
23 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
24 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
25 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
26 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
27 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
28 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
29 Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole Recruiting NCT02137538 Phase 4 Letrozole;Anastrozole
30 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
31 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
32 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
33 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
34 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
35 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Recruiting NCT02380235 Phase 4
36 Body Composition and Adipose Tissue in HIV Recruiting NCT03226821 Phase 4 Tesamorelin
37 A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Active, not recruiting NCT00840944 Phase 4 somatropin;triptorelin
38 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
39 Cardiovascular Effects on Growth Hormone Therapy in Adults With Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
40 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury Terminated NCT00555009 Phase 4 Genotropin;Placebo
41 Predictive Value of the Insulin-like Growth Factor-1 (IGF-1) Generation Test for the Growth Response to Growth Hormone Treatment (PRED-IGF) Withdrawn NCT01438801 Phase 4 Nutropin [Somatropin (rDNA origin) for injection]
42 Treatment Of Adult Growth Hormone Deficiency After Traumatic Brain Injury. Withdrawn NCT00432263 Phase 4 Genotropin (PN-180,307) Somatropin
43 The Role of Igf-1 Generation Test in Diagnosis and Treatment of Short Stature Unknown status NCT01970800 Phase 2, Phase 3 Growth Hormone
44 Treatment of Children With Insufficient Secretion of Growth Hormone Unknown status NCT00271518 Phase 3 growth hormone (somatropin)
45 Individualized, Target-Driven Treatment Of Children With Idiopathic Short Stature Completed NCT00396097 Phase 3 Genotropin;Genotropin
46 Aromatase Inhibitors, Alone And In Combination With Growth Hormone In Adolescent Boys With Idiopathic Short Stature Completed NCT01248416 Phase 3 Aromatase Inhibitor;Growth Hormone;Aromatase Inhibitor and Growth Hormone
47 Somatropin + Leuprorelin vs Somatropin Alone in Pubertal Children With Idiopathic Short Stature Completed NCT00355030 Phase 3 somatropin;leuprorelin
48 Efficacy and Safety of Recombinant Human Growth Hormone on Height Velocity in Subjects With Idiopathic Short Stature Completed NCT01778023 Phase 3 somatropin
49 A Phase 3 Study to Evaluate the Safety and Efficacy of Saizen® in Children With Idiopathic Short Stature (ISS) Completed NCT01746862 Phase 3 Saizen®;Saizen®
50 Efficacy and Safety of DA-3002 in Children With Idiopathic Short Stature Completed NCT01786902 Phase 3 DA-3002

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Pituitary, Bone, Testes, Brain, Heart, Kidney, Thyroid

Publications for Isolated Growth Hormone Deficiency, Type Ia

Articles related to Isolated Growth Hormone Deficiency, Type Ia:

(show top 50) (show all 105)
# Title Authors Year
1
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. ( 29961235 )
2018
2
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
3
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
4
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. ( 27169690 )
2016
5
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )
2016
6
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. ( 27611897 )
2016
7
Microcephalic osteodysplastic primordial dwarfism type 1. ( 27312855 )
2016
8
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. ( 27232581 )
2016
9
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). ( 27591150 )
2016
10
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. ( 26641461 )
2016
11
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
12
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. ( 26608784 )
2015
13
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. ( 25728776 )
2015
14
A novel cause for primordial dwarfism revealed: defective tRNA modification. ( 26429597 )
2015
15
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. ( 26059803 )
2015
16
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. ( 26637980 )
2015
17
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. ( 26231886 )
2015
18
Primordial dwarfism: overview of clinical and genetic aspects. ( 26323792 )
2015
19
Primordial dwarfism: an update. ( 25490023 )
2015
20
Two novel POC1A mutations in the Primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. ( 26374189 )
2015
21
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. ( 25735804 )
2015
22
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. ( 26416026 )
2015
23
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. ( 26162852 )
2015
24
Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. ( 26419500 )
2015
25
Genomic analysis of primordial dwarfism reveals novel disease genes. ( 24389050 )
2014
26
Hip pathology in Majewski osteodysplastic primordial dwarfism type II. ( 24705347 )
2014
27
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. ( 24741545 )
2014
28
Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. ( 25320347 )
2014
29
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. ( 24748105 )
2014
30
Primordial dwarfism gene maintains Lin28 expression to safeguard embryonic stem cells from premature differentiation. ( 24768001 )
2014
31
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. ( 24928221 )
2014
32
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. ( 25105364 )
2014
33
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
34
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. ( 24106199 )
2014
35
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency. ( 23612698 )
2013
36
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. ( 22773355 )
2013
37
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. ( 23498563 )
2013
38
"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. ( 23337351 )
2013
39
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. ( 23794361 )
2013
40
Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami". ( 24551984 )
2013
41
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities. ( 24027040 )
2013
42
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. ( 22581640 )
2012
43
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). ( 22527565 )
2012
44
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. ( 21815888 )
2012
45
Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome. ( 22786707 )
2012
46
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. ( 22821869 )
2012
47
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. ( 22933543 )
2012
48
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. ( 23023959 )
2012
49
Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. ( 22948629 )
2012
50
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. ( 22840364 )
2012

Variations for Isolated Growth Hormone Deficiency, Type Ia

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

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 GH1 GH1, 2-BP DEL, FS132TER deletion Pathogenic
2 GH1 NM_000515.4(GH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs137853219 GRCh37 Chromosome 17, 61995818: 61995818
3 GH1 NM_000515.4(GH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs137853219 GRCh38 Chromosome 17, 63918458: 63918458
4 GH1 GH1, 6.7-KB DEL deletion Pathogenic
5 GH1 GH1, 1-BP DEL, 371C deletion Pathogenic
6 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514487 GRCh37 Chromosome 3, 52183866: 52183866
7 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514487 GRCh38 Chromosome 3, 52149850: 52149850
8 BRCA2 NM_000059.3(BRCA2): c.9152delC (p.Pro3051Hisfs) deletion Pathogenic rs587779349 GRCh37 Chromosome 13, 32954178: 32954178
9 BRCA2 NM_000059.3(BRCA2): c.9152delC (p.Pro3051Hisfs) deletion Pathogenic rs587779349 GRCh38 Chromosome 13, 32380041: 32380041
10 XRCC4 NM_003401.4(XRCC4): c.127T> C (p.Trp43Arg) single nucleotide variant Pathogenic rs587779351 GRCh38 Chromosome 5, 83105046: 83105046
11 XRCC4 NM_003401.4(XRCC4): c.127T> C (p.Trp43Arg) single nucleotide variant Pathogenic rs587779351 GRCh37 Chromosome 5, 82400865: 82400865
12 CRIPT NM_014171.5(CRIPT): c.133_134insGG (p.Ala45Glyfs) insertion Pathogenic rs587779356 GRCh37 Chromosome 2, 46846816: 46846817
13 CRIPT NM_014171.5(CRIPT): c.133_134insGG (p.Ala45Glyfs) insertion Pathogenic rs587779356 GRCh38 Chromosome 2, 46619677: 46619678
14 CRIPT NM_014171.5(CRIPT): c.141delT (p.Phe47Leufs) deletion Pathogenic rs587779348 GRCh37 Chromosome 2, 46850906: 46850906
15 CRIPT NM_014171.5(CRIPT): c.141delT (p.Phe47Leufs) deletion Pathogenic rs587779348 GRCh38 Chromosome 2, 46623767: 46623767
16 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic rs587777614 GRCh37 Chromosome 10, 70176460: 70176460
17 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic rs587777614 GRCh38 Chromosome 10, 68416703: 68416703
18 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh37 Chromosome 17, 61996130: 61996130
19 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh38 Chromosome 17, 63918770: 63918770
20 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh38 Chromosome 17, 63918780: 63918780
21 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh37 Chromosome 17, 61996140: 61996140

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

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 9.7 BRCA2 CDC6 CDT1 CNTLN DNA2 LARP7
2 centriole GO:0005814 9.61 CNTLN PCNT POC1A
3 spindle pole GO:0000922 9.58 CDC6 KATNB1 POC1A
4 nuclear chromosome, telomeric region GO:0000784 9.54 BRCA2 DNA2 ORC4
5 endosome lumen GO:0031904 9.32 CSH1 GH1
6 nuclear origin of replication recognition complex GO:0005664 9.26 ORC4 ORC6
7 origin recognition complex GO:0000808 9.16 ORC4 ORC6
8 centrosome GO:0005813 9.1 BRCA2 CNTLN KATNB1 PCNT POC1A RTTN
9 nucleus GO:0005634 10.27 BRCA2 CDC6 CDT1 CRIPT DNA2 KATNB1

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

# Name GO ID Score Top Affiliating Genes
1 DNA synthesis involved in DNA repair GO:0000731 9.46 BRCA2 DNA2
2 G1/S transition of mitotic cell cycle GO:0000082 9.46 CDC6 CDT1 ORC4 ORC6
3 strand displacement GO:0000732 9.43 BRCA2 DNA2
4 DNA replication initiation GO:0006270 9.43 CDC6 ORC4 ORC6
5 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.4 CDC6 CDT1
6 response to X-ray GO:0010165 9.37 BRCA2 XRCC4
7 DNA replication GO:0006260 9.35 CDC6 CDT1 DNA2 ORC4 ORC6
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.32 CSH1 GH1
9 DNA replication checkpoint GO:0000076 8.8 CDC6 CDT1 DNA2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 BRCA2 CDC6 CDT1 CRIPT CSH1 DNA2
2 DNA replication origin binding GO:0003688 8.62 ORC4 ORC6

Sources for Isolated Growth Hormone Deficiency, Type Ia

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