IGHD2
MCID: GRW024
MIFTS: 45

Growth Hormone Deficiency, Isolated, Type Ii (IGHD2) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Growth Hormone Deficiency, Isolated, Type Ii

Aliases & Descriptions for Growth Hormone Deficiency, Isolated, Type Ii:

Name: Growth Hormone Deficiency, Isolated, Type Ii 54 13
Isolated Growth Hormone Deficiency Type Ii 12 50 56 66 14
Ighd Ii 12 50 66 52
Isolated Growth Hormone Deficiency, Type Ii 54 24 69
Ighd2 50 24 66
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant 50 66
Congenital Isolated Growth Hormone Deficiency Type Ii 12 56
Congenital Isolated Gh Deficiency Type Ii 12 56
Congenital Ighd Type Ii 12 56
Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency, Isolated Autosomal Dominant 50
Autosomal Dominant Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency Isolated Autosomal Dominant 66
Isolated Growth Hormone Deficiency Type 2 50
Growth Hormone Deficiency, Isolated, 2 66

Characteristics:

Orphanet epidemiological data:

56
isolated growth hormone deficiency type ii
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
growth hormone deficiency, isolated, type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 173100
Disease Ontology 12 DOID:0060872
ICD10 33 E23.0
Orphanet 56 ORPHA231679
ICD10 via Orphanet 34 E23.0
MedGen 40 C0271567
MeSH 42 D004393

Summaries for Growth Hormone Deficiency, Isolated, Type Ii

Disease Ontology : 12 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.

MalaCards based summary : Growth Hormone Deficiency, Isolated, Type Ii, also known as isolated growth hormone deficiency type ii, is related to isolated growth hormone deficiency and juvenile myelomonocytic leukemia, somatic nf1-related, and has symptoms including severe short stature, growth hormone deficiency and pituitary dwarfism. An important gene associated with Growth Hormone Deficiency, Isolated, Type Ii is GH1 (Growth Hormone 1), and among its related pathways/superpathways are IL-2 Pathway and Influenza A. The drugs Vinblastine and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related phenotypes are growth/size/body region and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 66 Growth hormone deficiency, isolated, 2: An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy.

Description from OMIM: 173100

Related Diseases for Growth Hormone Deficiency, Isolated, Type Ii

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 11.4
2 juvenile myelomonocytic leukemia, somatic nf1-related 10.3 GH1 GHRHR
3 growth hormone deficiency 10.3
4 caudal regression syndrome 10.2 GH1 IGF1 POU1F1
5 deafness, autosomal dominant 25 10.2 GHR IGF1
6 rheumatic encephalitis 10.2 GH1 IGF1 POU1F1
7 shaver's disease 10.2 GH1 HESX1 POU1F1
8 idiopathic hypersomnia without long sleep time 10.2 HESX1 POU1F1
9 pemphigus vegetans 10.2 GH1 GHR
10 l-cell glucagon-like peptide producing tumor 10.2 GHRHR HESX1 POU1F1
11 critical congenital heart disease 10.2 GH1 IGF1
12 adult i blood group with or without congenital cataract 10.2 GH1 HESX1 POU1F1
13 capillary lymphangioma 10.2 GH1 GHR IGF1
14 extrahepatic bile duct adenocarcinoma 10.1 GH1 GHR IGF1
15 plasmalogens synthesis deficiency isolated 10.1 GH1 GHRHR HESX1 POU1F1
16 protein s deficiency 10.1 GH1 GHR GHRH IGF1
17 congenital amputation 10.1 HESX1 POU1F1
18 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.1 GH1 GHR GHRH IGF1
19 epileptic encephalopathy, early infantile, 24 10.1 GH1 GHR IGF1 STAT5B
20 edict syndrome 10.1 GH1 GHR GHRH IGF1
21 microtia, hearing impairment, and cleft palate 10.1 GH1 GHR GHRH GHRHR IGF1
22 dykes markes harper syndrome 10.1 GH1 GHR GHRH GHRHR IGF1
23 adamantinous craniopharyngioma 10.1 GH1 GHR GHRH IGF1 POU1F1
24 urethra clear cell adenocarcinoma 10.0 GH1 GHRH HESX1 IGF1 POU1F1
25 cervix squamous papilloma 10.0 GH1 GHRH HESX1 IGF1 POU1F1
26 thrombophilia 10.0 GH1 GHR GHRH GHRHR IGF1
27 mucopolysaccharidosis type vi 10.0 GH1 GHR HESX1 IGF1 POU1F1
28 rolandic epilepsy, mental retardation, and speech dyspraxia 9.9 ESX1 HESX1
29 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 9.9 JAK2 STAT5A STAT5B
30 ossification of the posterior longitudinal ligament of spine 9.9 GH1 GHR GHRH GHRHR HESX1 IGF1
31 gynandroblastoma 9.8 GH1 GHR GHRH GHRHR HESX1 IGF1
32 actinobacillosis 9.8 JAK2 STAT5A STAT5B
33 peroxisome biogenesis disorder 7a 9.7 ANXA5 JAK2 STAT5A STAT5B
34 cranioectodermal dysplasia 1 9.6 ANXA5 JAK2 SRSF2 STAT5A STAT5B
35 microvascular complications of diabetes 3 7.9 ANXA5 ELF3 ELF5 ESX1 GH1 GHR

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



Diseases related to Growth Hormone Deficiency, Isolated, Type Ii

Symptoms & Phenotypes for Growth Hormone Deficiency, Isolated, Type Ii

Symptoms by clinical synopsis from OMIM:

173100

Clinical features from OMIM:

173100

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

32
id Description HPO Frequency HPO Source Accession
1 severe short stature 32 HP:0003510
2 growth hormone deficiency 32 HP:0000824
3 pituitary dwarfism 32 HP:0000839

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 GHRHR HESX1 HSP90B1 IGF1 JAK2 POU1F1
2 endocrine/exocrine gland MP:0005379 10.07 GHR GHRH GHRHR HESX1 IGF1 JAK2
3 hematopoietic system MP:0005397 9.96 POU1F1 SRSF2 STAT5A STAT5B ANXA5 GHR
4 immune system MP:0005387 9.9 ANXA5 GHR GHRH GHRHR HSP90B1 IGF1
5 mortality/aging MP:0010768 9.77 ELF3 GHR GOSR2 HESX1 HSP90B1 IGF1
6 reproductive system MP:0005389 9.23 GHR GHRH GHRHR IGF1 JAK2 POU1F1

Drugs & Therapeutics for Growth Hormone Deficiency, Isolated, Type Ii

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

(show top 50) (show all 75)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
2
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
3
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
4
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
5
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
8
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
9
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
10
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
12 Prednisolone acetate Phase 2, Phase 3
13 Analgesics Phase 2, Phase 3
14 glucocorticoids Phase 2, Phase 3
15 Folic Acid Antagonists Phase 2, Phase 3
16 Cyclooxygenase Inhibitors Phase 2, Phase 3
17 Tocolytic Agents Phase 2, Phase 3
18 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
19 Analgesics, Non-Narcotic Phase 2, Phase 3
20 Dermatologic Agents Phase 2, Phase 3
21 Hormone Antagonists Phase 2, Phase 3
22 Hormones Phase 2, Phase 3
23 Peripheral Nervous System Agents Phase 2, Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
25 Vitamin B Complex Phase 2, Phase 3
26 Immunoglobulins Phase 2, Phase 3
27 gamma-Globulins Phase 2, Phase 3
28 Prednisolone hemisuccinate Phase 2, Phase 3
29 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
30 6-Mercaptopurine Phase 2, Phase 3
31 Prednisolone phosphate Phase 2, Phase 3
32 Anti-Infective Agents Phase 2, Phase 3
33 Immunoglobulins, Intravenous Phase 2, Phase 3
34 Immunosuppressive Agents Phase 2, Phase 3
35 Anti-Inflammatory Agents Phase 2, Phase 3
36 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
37 Antimetabolites Phase 2, Phase 3
38 Antimetabolites, Antineoplastic Phase 2, Phase 3
39 Rho(D) Immune Globulin Phase 2, Phase 3
40 Methylprednisolone acetate Phase 2, Phase 3
41 Methylprednisolone Hemisuccinate Phase 2, Phase 3
42 Antibodies Phase 2, Phase 3
43 Antimitotic Agents Phase 2, Phase 3
44 Antirheumatic Agents Phase 2, Phase 3
45 Antineoplastic Agents, Hormonal Phase 2, Phase 3
46 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
47 Antiviral Agents Phase 2, Phase 3
48 Folate Nutraceutical Phase 2, Phase 3
49 Vitamin B9 Nutraceutical Phase 2, Phase 3
50
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743

Interventional clinical trials:


id Name Status NCT ID Phase
1 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
2 Autologous Stem Cell Transplant Followed By Maintenance Therapy in Treating Elderly Patients With Multiple Myeloma Recruiting NCT01849783 Phase 2

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

Genetic Tests for Growth Hormone Deficiency, Isolated, Type Ii

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

id Genetic test Affiliating Genes
1 Isolated Growth Hormone Deficiency, Type Ii 24 GH1

Anatomical Context for Growth Hormone Deficiency, Isolated, Type Ii

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

39
Pituitary

Publications for Growth Hormone Deficiency, Isolated, Type Ii

Variations for Growth Hormone Deficiency, Isolated, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Deficiency, Isolated, Type Ii:

66
id Symbol AA change Variation ID SNP ID
1 GH1 p.Arg209His VAR_015815 rs137853223

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 GH1 NM_000515.4(GH1): c.291+6T> C single nucleotide variant Pathogenic rs797044450 GRCh37 Chromosome 17, 61995371: 61995371
2 GH1 NM_000515.4(GH1): c.291+1G> A single nucleotide variant Pathogenic rs71640277 GRCh38 Chromosome 17, 63918016: 63918016
3 GH1 NM_000515.4(GH1): c.291+1G> C single nucleotide variant Pathogenic rs71640277 GRCh37 Chromosome 17, 61995376: 61995376
4 GH1 NM_000515.4(GH1): c.291+28G> A single nucleotide variant Pathogenic rs863223306 GRCh37 Chromosome 17, 61995349: 61995349
5 GH1 GH1, IVS3, 18-BP DEL, +28-45 deletion Pathogenic
6 GH1 NM_000515.4(GH1): c.291+5G> A single nucleotide variant Pathogenic rs863223307 GRCh38 Chromosome 17, 63918012: 63918012
7 GH1 GH1, EX3, A-G, +5 single nucleotide variant Pathogenic
8 GH1 GH1, EX3DEL deletion Pathogenic
9 GH1 NM_000515.4(GH1): c.172-2A> T single nucleotide variant Pathogenic rs863223309 GRCh37 Chromosome 17, 61995498: 61995498
10 GH1 NM_000515.4(GH1): c.291+2T> C single nucleotide variant Pathogenic rs863223310 GRCh37 Chromosome 17, 61995375: 61995375
11 GH1 GH1, IVS3, 22-BP DEL deletion Pathogenic
12 GH1 NM_000515.4(GH1): c.626G> A (p.Arg209His) single nucleotide variant Pathogenic rs137853223 GRCh37 Chromosome 17, 61994697: 61994697
13 GH1 GH1, EX3, A-C, +2 single nucleotide variant Pathogenic
14 GH1 GH1, EX3, G-A, +1 single nucleotide variant Pathogenic

Expression for Growth Hormone Deficiency, Isolated, Type Ii

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

Pathways for Growth Hormone Deficiency, Isolated, Type Ii

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

(show all 30)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 GH1 GHR IGF1 JAK2 STAT5A STAT5B
2
Show member pathways
12.69 JAK2 SRSF1 SRSF2 STAT5A STAT5B
3 12.48 GH1 GHR HSP90B1 IGF1 JAK2
4
Show member pathways
12.25 ELF5 GH1 JAK2 STAT5A STAT5B
5
Show member pathways
12.1 HSP90B1 IGF1 JAK2 STAT5A STAT5B
6 12 JAK2 RAB3A STAT5A STAT5B
7 11.92 ESX1 HESX1 IGF1 JAK2
8
Show member pathways
11.85 JAK2 STAT5A STAT5B
9 11.85 GH1 IGF1 STAT5A STAT5B
10
Show member pathways
11.84 JAK2 STAT5A STAT5B
11
Show member pathways
11.81 JAK2 STAT5A STAT5B
12 11.79 JAK2 STAT5A STAT5B
13
Show member pathways
11.79 GH1 GHR JAK2 STAT5A STAT5B
14
Show member pathways
11.78 JAK2 STAT5A STAT5B
15 11.73 JAK2 STAT5A STAT5B
16
Show member pathways
11.71 JAK2 STAT5A STAT5B
17 11.69 POU1F1 STAT5A STAT5B
18 11.65 JAK2 STAT5A STAT5B
19 11.59 JAK2 STAT5A STAT5B
20 11.57 JAK2 STAT5A STAT5B
21 11.54 JAK2 STAT5A STAT5B
22 11.43 JAK2 STAT5A STAT5B
23 11.31 HSP90B1 STAT5A STAT5B
24 11.28 JAK2 STAT5A STAT5B
25
Show member pathways
11.22 JAK2 STAT5A STAT5B
26 11.18 JAK2 STAT5A STAT5B
27 11.07 GH1 GHR IGF1 STAT5B
28
Show member pathways
11.01 JAK2 STAT5A STAT5B
29 10.71 JAK2 STAT5A STAT5B
30
Show member pathways
10.63 GH1 GHR JAK2 STAT5A STAT5B

GO Terms for Growth Hormone Deficiency, Isolated, Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.96 GH1 JAK2
2 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.89 GH1 GHR IGF1 JAK2
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.86 GH1 GHR IGF1 JAK2
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.82 GH1 IGF1 JAK2
4 lactation GO:0007595 9.8 GHRHR STAT5A STAT5B
5 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.8 GH1 GHR JAK2
6 2-oxoglutarate metabolic process GO:0006103 9.76 GHR STAT5A STAT5B
7 regulation of multicellular organism growth GO:0040014 9.76 GHR IGF1 STAT5A STAT5B
8 oxaloacetate metabolic process GO:0006107 9.75 GHR STAT5A STAT5B
9 creatine metabolic process GO:0006600 9.74 GHR STAT5A STAT5B
10 succinate metabolic process GO:0006105 9.72 GHR STAT5A STAT5B
11 adenohypophysis development GO:0021984 9.71 GHRH GHRHR POU1F1
12 growth hormone receptor signaling pathway GO:0060396 9.7 GH1 GHR JAK2
13 citrate metabolic process GO:0006101 9.69 GHR STAT5A STAT5B
14 positive regulation of JAK-STAT cascade GO:0046427 9.67 GH1 GHR
15 insulin-like growth factor receptor signaling pathway GO:0048009 9.67 GHR IGF1
16 valine metabolic process GO:0006573 9.67 GHR STAT5A STAT5B
17 determination of adult lifespan GO:0008340 9.66 GHRHR POU1F1
18 positive regulation of protein import into nucleus, translocation GO:0033160 9.66 IGF1 JAK2
19 positive regulation of hormone secretion GO:0046887 9.65 GHRH GHRHR
20 positive regulation of growth hormone secretion GO:0060124 9.65 GHRH GHRHR
21 taurine metabolic process GO:0019530 9.65 GHR STAT5A STAT5B
22 growth hormone secretion GO:0030252 9.64 GHRH GHRHR
23 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.64 GHRHR POU1F1
24 activation of Janus kinase activity GO:0042976 9.63 GHR JAK2
25 activation of JAK2 kinase activity GO:0042977 9.62 GHR JAK2
26 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.62 GH1 GHR IGF1 JAK2
27 prolactin signaling pathway GO:0038161 9.61 STAT5A STAT5B
28 creatinine metabolic process GO:0046449 9.61 GHR STAT5A STAT5B
29 somatotropin secreting cell development GO:0060133 9.6 GHRHR POU1F1
30 isoleucine metabolic process GO:0006549 9.58 GHR STAT5A STAT5B
31 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 GH1 GHRH GHRHR IGF1
32 JAK-STAT cascade GO:0007259 9.55 GH1 GHR JAK2 STAT5A STAT5B
33 allantoin metabolic process GO:0000255 9.54 GHR STAT5A STAT5B
34 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.35 GH1 GHR JAK2 STAT5A STAT5B
35 positive regulation of multicellular organism growth GO:0040018 9.1 GH1 GHR GHRH GHRHR POU1F1 STAT5B
36 positive regulation of cell proliferation GO:0008284 10.08 GHRH GHRHR IGF1 JAK2 POU1F1 STAT5B

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 ELF3 ELF5 ESX1 HESX1 POU1F1
2 protein phosphatase binding GO:0019903 9.13 GHR HSP90B1 STAT5B
3 growth hormone receptor binding GO:0005131 8.62 GH1 JAK2

Sources for Growth Hormone Deficiency, Isolated, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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