MCID: GRW024
MIFTS: 44

Growth Hormone Deficiency, Isolated, Type Ii

Categories: Genetic diseases, Rare diseases, Endocrine diseases

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

MalaCards integrated aliases 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 71 14
Ighd Ii 12 50 71 52
Ighd2 50 24 71
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant 50 71
Congenital Isolated Growth Hormone Deficiency Type Ii 12 56
Isolated Growth Hormone Deficiency, Type Ii 24 69
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 71
Isolated Growth Hormone Deficiency Type 2 50
Growth Hormone Deficiency, Isolated, 2 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant form


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
UMLS via Orphanet 70 C0271567
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 isolated klippel-feil syndrome, and has symptoms including growth hormone deficiency, pituitary dwarfism and severe short stature. An important gene associated with Growth Hormone Deficiency, Isolated, Type Ii is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Influenza A and Prolactin Signaling Pathway. The drugs Cladribine and Cytarabine 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

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on isolated growth hormone deficiency.

UniProtKB/Swiss-Prot : 71 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 38)
id Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 11.4
2 isolated klippel-feil syndrome 10.6 HESX1 POU1F1
3 complement receptor deficiency 10.6 HESX1 POU1F1
4 acyl-coa dehydrogenase, short-chain, deficiency of 10.6 GHR IGF1
5 hypothyroidism, congenital, nongoitrous 4 10.6 GH1 IGF1 POU1F1
6 simple cryoglobulinemia 10.6 GH1 GHR
7 intermittent squint 10.5 GH1 GHRH
8 psychogenic movement 10.5 GH1 IGF1 POU1F1
9 lipase deficiency, combined 10.5 GH1 IGF1
10 lymphohistiocytoid mesothelioma 10.5 GHRHR HESX1 POU1F1
11 acute myeloid leukemia, susceptibility, gata2-related 10.4 GH1 HESX1 POU1F1
12 bile duct signet ring cell carcinoma 10.4 GH1 GHR IGF1
13 usher syndrome, type 1f 10.3 GH1 GHRH IGF1 POU1F1
14 pityriasis rotunda 10.3 GH1 GHRHR HESX1 POU1F1
15 growth hormone deficiency 10.3
16 protein s deficiency 10.3 GH1 GHR GHRH IGF1
17 dwarfism familial with muscle spasms 10.3 GH1 GHR GHRH GHRHR
18 chromosome 11p13 deletion syndrome, distal 10.3 GH1 GHR GHRH IGF1
19 lung cancer susceptibility 2 10.2 GH1 GHR GHRH IGF1
20 growth hormone insensitivity, partial 10.2 GH1 GHR IGF1 STAT5B
21 glassy cell carcinoma of the cervix 10.1 GH1 GHRH
22 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.1 GH1 GHR GHRH GHRHR IGF1
23 uterine ligament clear cell adenocarcinoma 10.1 GH1 GHRH HESX1 IGF1 POU1F1
24 thrombophilia 10.0 GH1 GHR GHRH GHRHR IGF1
25 allergic asthma 10.0 GH1 GHRH HESX1 IGF1 POU1F1
26 grubben de cock borghgraef syndrome 10.0 GH1 GHRH GHRHR HESX1 IGF1
27 molybdenum cofactor deficiency b 10.0 GH1 GHR HESX1 IGF1 POU1F1
28 rolandic epilepsy, mental retardation, and speech dyspraxia 10.0 ESX1 HESX1
29 autoimmune disease of exocrine system 9.9 STAT5A STAT5B
30 pmm2-congenital disorder of glycosylation 9.7 STAT5A STAT5B
31 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 9.7 JAK2 STAT5A STAT5B
32 maxillary sinus schneiderian papilloma 9.6 STAT5A STAT5B
33 nelson syndrome 9.6 JAK2 STAT5A STAT5B
34 primary hypomagnesemia 9.6 GH1 GHR GHRH GHRHR HESX1 IGF1
35 myelofibrosis with myeloid metaplasia, somatic 9.5 JAK2 SRSF2 STAT5A STAT5B
36 peroxisome biogenesis disorder 7a 9.3 ANXA5 JAK2 STAT5A STAT5B
37 cranioectodermal dysplasia 1 9.1 ANXA5 JAK2 SRSF2 STAT5A STAT5B
38 kowarski syndrome 4.4 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 via clinical synopsis from OMIM:

54

Growth:
dwarfism

Lab:
insulin responses to glucose and to arginine usually greater than normal
no insulinopenia

Endocrine:
isolated growth hormone deficiency


Clinical features from OMIM:

173100

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

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

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 10.03 ELF3 GHR GHRH GHRHR HESX1 HSP90B1
2 endocrine/exocrine gland MP:0005379 10.02 GHR GHRH GHRHR HESX1 IGF1 JAK2
3 hematopoietic system MP:0005397 9.85 ANXA5 GHR GHRHR HSP90B1 IGF1 JAK2
4 immune system MP:0005387 9.7 STAT5B ANXA5 GHR GHRH GHRHR HSP90B1
5 mortality/aging MP:0010768 9.44 POU1F1 RAB3A SRSF1 SRSF2 STAT5A STAT5B

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 all 49)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
2
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
3
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
4
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
8
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
9
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
12 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
13 6-Mercaptopurine Phase 2, Phase 3
14 Analgesics Phase 2, Phase 3
15 Analgesics, Non-Narcotic Phase 2, Phase 3
16 Antibodies Phase 2, Phase 3
17 Anti-Infective Agents Phase 2, Phase 3
18 Anti-Inflammatory Agents Phase 2, Phase 3
19 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
20 Antimetabolites Phase 2, Phase 3
21 Antimetabolites, Antineoplastic Phase 2, Phase 3
22 Antimitotic Agents Phase 2, Phase 3
23 Antineoplastic Agents, Hormonal Phase 2, Phase 3
24 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
25 Antirheumatic Agents Phase 2, Phase 3
26 Antiviral Agents Phase 2, Phase 3
27 Cyclooxygenase Inhibitors Phase 2, Phase 3
28 Dermatologic Agents Phase 2, Phase 3
29 Folic Acid Antagonists Phase 2, Phase 3
30 gamma-Globulins Phase 2, Phase 3
31 glucocorticoids Phase 2, Phase 3
32 Hormone Antagonists Phase 2, Phase 3
33 Hormones Phase 2, Phase 3
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
35 Immunoglobulins Phase 2, Phase 3
36 Immunoglobulins, Intravenous Phase 2, Phase 3
37 Immunosuppressive Agents Phase 2, Phase 3
38 Methylprednisolone acetate Phase 2, Phase 3
39 Methylprednisolone Hemisuccinate Phase 2, Phase 3
40 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
41 Peripheral Nervous System Agents Phase 2, Phase 3
42 Prednisolone acetate Phase 2, Phase 3
43 Prednisolone hemisuccinate Phase 2, Phase 3
44 Prednisolone phosphate Phase 2, Phase 3
45 Rho(D) Immune Globulin Phase 2, Phase 3
46 Tocolytic Agents Phase 2, Phase 3
47 Vitamin B Complex Phase 2, Phase 3
48 Folate Nutraceutical Phase 2, Phase 3
49 Vitamin B9 Nutraceutical Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3 Prednisone;Vinblastine;mercaptopurine;INDOMETHACIN;Methotrexate;Cytosine Arabinoside;2-chlorodeoxyadenosine

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:

71
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 25)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 JAK2 SRSF1 SRSF2 STAT5A STAT5B
2
Show member pathways
12.25 ELF5 GH1 JAK2 STAT5A STAT5B
3
Show member pathways
12.15 HSP90B1 IGF1 JAK2 STAT5A STAT5B
4 11.98 JAK2 RAB3A STAT5A STAT5B
5 11.92 ESX1 HESX1 IGF1 JAK2
6 11.85 GH1 IGF1 STAT5A STAT5B
7
Show member pathways
11.83 JAK2 STAT5A STAT5B
8
Show member pathways
11.82 JAK2 STAT5A STAT5B
9
Show member pathways
11.79 GH1 GHR JAK2 STAT5A STAT5B
10 11.78 JAK2 STAT5A STAT5B
11
Show member pathways
11.78 JAK2 STAT5A STAT5B
12
Show member pathways
11.76 JAK2 STAT5A STAT5B
13 11.67 POU1F1 STAT5A STAT5B
14 11.62 JAK2 STAT5A STAT5B
15 11.55 JAK2 STAT5A STAT5B
16 11.52 JAK2 STAT5A STAT5B
17 11.41 JAK2 STAT5A STAT5B
18 11.3 HSP90B1 STAT5A STAT5B
19 11.28 JAK2 STAT5A STAT5B
20
Show member pathways
11.22 JAK2 STAT5A STAT5B
21 11.16 JAK2 STAT5A STAT5B
22 11.07 GH1 GHR IGF1 STAT5B
23
Show member pathways
10.96 JAK2 STAT5A STAT5B
24 10.71 JAK2 STAT5A STAT5B
25
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 32)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.88 GH1 GHR IGF1 JAK2
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.87 GH1 GHR IGF1 JAK2
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 GH1 IGF1 JAK2
4 lactation GO:0007595 9.78 GHRHR STAT5A STAT5B
5 2-oxoglutarate metabolic process GO:0006103 9.75 GHR STAT5A STAT5B
6 oxaloacetate metabolic process GO:0006107 9.73 GHR STAT5A STAT5B
7 regulation of multicellular organism growth GO:0040014 9.73 GHR IGF1 STAT5A STAT5B
8 creatine metabolic process GO:0006600 9.72 GHR STAT5A STAT5B
9 succinate metabolic process GO:0006105 9.71 GHR STAT5A STAT5B
10 adenohypophysis development GO:0021984 9.7 GHRH GHRHR POU1F1
11 growth hormone receptor signaling pathway GO:0060396 9.69 GH1 GHR JAK2
12 citrate metabolic process GO:0006101 9.67 GHR STAT5A STAT5B
13 positive regulation of JAK-STAT cascade GO:0046427 9.65 GH1 GHR
14 insulin-like growth factor receptor signaling pathway GO:0048009 9.65 GHR IGF1
15 determination of adult lifespan GO:0008340 9.65 GHRHR POU1F1
16 taurine metabolic process GO:0019530 9.65 GHR STAT5A STAT5B
17 positive regulation of protein import into nucleus, translocation GO:0033160 9.64 IGF1 JAK2
18 positive regulation of hormone secretion GO:0046887 9.64 GHRH GHRHR
19 positive regulation of growth hormone secretion GO:0060124 9.63 GHRH GHRHR
20 valine metabolic process GO:0006573 9.63 GHR STAT5A STAT5B
21 growth hormone secretion GO:0030252 9.62 GHRH GHRHR
22 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.62 GHRHR POU1F1
23 activation of Janus kinase activity GO:0042976 9.61 GHR JAK2
24 somatotropin secreting cell development GO:0060133 9.59 GHRHR POU1F1
25 creatinine metabolic process GO:0046449 9.58 GHR STAT5A STAT5B
26 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 GH1 GHRH GHRHR IGF1
27 JAK-STAT cascade GO:0007259 9.55 GH1 GHR JAK2 STAT5A STAT5B
28 isoleucine metabolic process GO:0006549 9.54 GHR STAT5A STAT5B
29 allantoin metabolic process GO:0000255 9.5 GHR STAT5A STAT5B
30 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.35 GH1 GHR JAK2 STAT5A STAT5B
31 positive regulation of multicellular organism growth GO:0040018 9.1 GH1 GHR GHRH GHRHR POU1F1 STAT5B
32 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 9.35 ELF3 ELF5 ESX1 HESX1 POU1F1
2 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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