NS2
MCID: NNN009
MIFTS: 44

Noonan Syndrome 2 (NS2)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome 2

MalaCards integrated aliases for Noonan Syndrome 2:

Name: Noonan Syndrome 2 57 12 53 29 15 73
Ns2 57 12 53
Noonan Syndrome 2, Autosomal Recessive 57
Noonan Syndrome, Autosomal Recessive 57
Autosomal Recessive Noonan Syndrome 53
Noonan Syndrome Autosomal Recessive 53

Classifications:



External Ids:

OMIM 57 605275
Disease Ontology 12 DOID:0060580
ICD10 33 Q87.1
UMLS 73 C1854469

Summaries for Noonan Syndrome 2

OMIM : 57 Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typical face, congenital heart disease, and short stature (summary by van der Burgt and Brunner, 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (605275)

MalaCards based summary : Noonan Syndrome 2, also known as ns2, is related to hepatitis c virus and hepatitis. An important gene associated with Noonan Syndrome 2 is NS2 (Noonan Syndrome 2), and among its related pathways/superpathways are Influenza A and NF-kappaB Signaling. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and eye, and related phenotypes are Decreased HIV-LTR-beta-galactosidase protein expression and Decreased interferon-beta reporter expression

Disease Ontology : 12 A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has material basis in an autosomal recessive inheritance.

Related Diseases for Noonan Syndrome 2

Graphical network of the top 20 diseases related to Noonan Syndrome 2:



Diseases related to Noonan Syndrome 2

Symptoms & Phenotypes for Noonan Syndrome 2

Clinical features from OMIM:

605275

GenomeRNAi Phenotypes related to Noonan Syndrome 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-LTR-beta-galactosidase protein expression GR00224-A-1 9.33 ISG20L2 RNASEL XPO1
2 Decreased interferon-beta reporter expression GR00307-A 9.13 IRF3 MAVS XPO1
3 Upregulation of RLR pathway after Sendai virus (SeV) infection GR00302-A 8.92 DDX58 IRF3 MAVS XPO1

Drugs & Therapeutics for Noonan Syndrome 2

Drugs for Noonan Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
3
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
5
Ethanol Approved Phase 2 64-17-5 702
6
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10 Hormone Antagonists Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12 Antiemetics Phase 2
13 Neuroprotective Agents Phase 2
14 Prednisolone acetate Phase 2
15 Anti-Inflammatory Agents Phase 2
16 glucocorticoids Phase 2
17 Hormones Phase 2
18 Gastrointestinal Agents Phase 2
19 Ophthalmic Solutions Phase 2
20 Protective Agents Phase 2
21 Autonomic Agents Phase 2
22 Methylprednisolone acetate Phase 2
23 Vaccines Phase 1
24 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Short Term Effectiveness Study of Juxta-Fit Versus Trico Bandages in the Treatment of Leg Lymphedema Completed NCT01068431 Phase 4
2 A Safety and Efficacy Study of NS2 in Patients With Anterior Uveitis Completed NCT02406209 Phase 2 NS2;Prednisolone acetate ophthalmic suspension (1%)
3 A Safety and Activity Study of NS2 in Subjects With Allergic Conjunctivitis Completed NCT02578914 Phase 2 NS2 Ophthalmic Drops (0.5%);NS2 Ophthalmic Drops Vehicle (0.0%)
4 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
5 Evaluating the Infectivity, Safety, and Immunogenicity of a Respiratory Syncytial Virus Vaccine (RSV 6120/∆NS2/1030s) in RSV-Seropositive Children and RSV-Seronegative Infants and Children Recruiting NCT03387137 Phase 1
6 Evaluating the Infectivity, Safety, and Immunogenicity of a Single Dose of a Recombinant Live-Attenuated Respiratory Syncytial Virus Vaccine (D46/NS2/N/ΔM2-2-HindIII) in RSV-Seronegative Infants 6 to 24 Months of Age Completed NCT03102034 Phase 1
7 Infectivity, Safety and Immunogenicity of a Recombinant Live-Attenuated Respiratory Syncytial Virus Vaccine (D46/NS2/N/ΔM2-2-HindIII) in RSV-Seronegative Infants and Children 6 to 24 Months of Age Completed NCT03099291 Phase 1
8 Effect of Coccinia Cordifolia Extract on Blood Sugar of Newly Diagnosed Diabetics Completed NCT00502008 Not Applicable Coccinia Cordifolia (herbal extract)
9 Study of Human Epidermal Growth Receptor (HER2) Status Evaluation in Breast Cancer Pathology Samples Completed NCT02580799

Search NIH Clinical Center for Noonan Syndrome 2

Genetic Tests for Noonan Syndrome 2

Genetic tests related to Noonan Syndrome 2:

# Genetic test Affiliating Genes
1 Noonan Syndrome 2 29

Anatomical Context for Noonan Syndrome 2

MalaCards organs/tissues related to Noonan Syndrome 2:

41
Heart, Skin, Eye, T Cells, Liver, B Cells

Publications for Noonan Syndrome 2

Articles related to Noonan Syndrome 2:

(show top 50) (show all 189)
# Title Authors Year
1
Dengue virus NS2 and NS4: Minor proteins, mammoth roles. ( 29674002 )
2018
2
NS2 proteases from hepatitis C virus and related hepaciviruses share composite active sites and previously unrecognized intrinsic proteolytic activities. ( 29415072 )
2018
3
Easily reduced bis-pincer (NS2)2molybdenum(iv) to (NHS2)2Mo(ii) by alcohols vs. redox-inert (NS2)(NHS2)iron(iii) complexes. ( 29951680 )
2018
4
Loss of Drosophila nucleostemin 2 (NS2) blocks nucleolar release of the 60S subunit leading to ribosome stress. ( 27150106 )
2017
5
Lineage A Betacoronavirus NS2 Proteins and the Homologous Torovirus Berne pp1a Carboxy-Terminal Domain Are Phosphodiesterases That Antagonize Activation of RNase L. ( 28003490 )
2017
6
Feline Panleucopenia Virus NS2 Suppresses the Host IFN-β Induction by Disrupting the Interaction between TBK1 and STING. ( 28125002 )
2017
7
Gelatin nanoparticles enhance delivery of hepatitis C virus recombinant NS2 gene. ( 28746382 )
2017
8
Toward the laboratory identification of the not-so-simple NS2 neutral and anion isomers. ( 28830189 )
2017
9
Naringenin and quercetin--potential anti-HCV agents for NS2 protease targets. ( 25774442 )
2016
10
Crystal structure of the mouse hepatitis virus ns2 phosphodiesterase domain that antagonizes RNase L activation. ( 26757803 )
2016
11
Infection of Common Marmosets with GB Virus B Chimeric Virus Encoding the Major Nonstructural Proteins NS2 to NS4A of Hepatitis C Virus. ( 27384651 )
2016
12
Multiscale simulations on conformational dynamics and membrane interactions of the non-structural 2 (NS2) transmembrane domain. ( 27444387 )
2016
13
Theoretical study of the interactions between the first transmembrane segment of NS2 protein and a POPC lipid bilayer. ( 27455027 )
2016
14
Beyond methylammonium lead iodide: prospects for the emergent field of ns2 containing solar absorbers. ( 27722664 )
2016
15
Electrocatalytic proton reduction by dimeric nickel complex of a sterically demanding pincer-type NS2 aminobis(thiophenolate) ligand. ( 25539022 )
2015
16
Detergent-resistant membrane association of NS2 and E2 during hepatitis C virus replication. ( 25673706 )
2015
17
A conserved NS3 surface patch orchestrates NS2 protease stimulation, NS5A hyperphosphorylation and HCV genome replication. ( 25774920 )
2015
18
A single NS2 mutation of K86R promotes PR8 vaccine donor virus growth in Vero cells. ( 25817403 )
2015
19
Adaptive Mutations Enhance Assembly and Cell-to-Cell Transmission of a High-Titer Hepatitis C Virus Genotype 5a Core-NS2 JFH1-Based Recombinant. ( 25995244 )
2015
20
Characterization of the Determinants of NS2-3-Independent Virion Morphogenesis of Pestiviruses. ( 26355097 )
2015
21
NS2 is dispensable for efficient assembly of hepatitis C virus-like particles in a bipartite trans-encapsidation system. ( 25024280 )
2014
22
Nuclear export of the influenza virus ribonucleoprotein complex: Interaction of Hsc70 with viral proteins M1 and NS2. ( 25161876 )
2014
23
The Minute Virus of Mice NS2 proteins are not essential for productive infection of embryonic murine cells in utero. ( 25310499 )
2014
24
Effects of hepatitis C virus gene NS2 on the expressions of Bcl-2 and Bax in HepG2 cells. ( 25823150 )
2014
25
Inhibition of hepatitis C virus infection by DNA aptamer against NS2 protein. ( 24587329 )
2014
26
Determinants for membrane association of the hepatitis C virus NS2 protease domain. ( 24648458 )
2014
27
RSV-encoded NS2 promotes epithelial cell shedding and distal airway obstruction. ( 24713657 )
2014
28
NS2 proteins of GB virus B and hepatitis C virus share common protease activities and membrane topologies. ( 24741107 )
2014
29
Visual quality assessment after network transmission incorporating NS2 and Evalvid. ( 24883370 )
2014
30
Murine AKAP7 has a 2',5'-phosphodiesterase domain that can complement an inactive murine coronavirus ns2 gene. ( 24987090 )
2014
31
A second CRM1-dependent nuclear export signal in the influenza A virus NS2 protein contributes to the nuclear export of viral ribonucleoproteins. ( 23115280 )
2013
32
Respiratory syncytial virus modified by deletions of the NS2 gene and amino acid S1313 of the L polymerase protein is a temperature-sensitive, live-attenuated vaccine candidate that is phenotypically stable at physiological temperature. ( 23236065 )
2013
33
Genetic and functional characterization of the N-terminal region of the hepatitis C virus NS2 protein. ( 23408609 )
2013
34
Identification of specific regions in hepatitis C virus core, NS2 and NS5A that genetically interact with p7 and co-ordinate infectious virus production. ( 23490391 )
2013
35
Hepatitis C virus NS2 protein inhibits DNA damage pathway by sequestering p53 to the cytoplasm. ( 23638118 )
2013
36
Identification of a linear B-cell epitope within the Bluetongue virus serotype 8 NS2 protein using a phage-displayed random peptide library. ( 23747319 )
2013
37
Analysis of hepatitis C virus core/NS5A protein co-localization using novel cell culture systems expressing core-NS2 and NS5A of genotypes 1-7. ( 23907394 )
2013
38
An adaptive mutation in NS2 is essential for efficient production of infectious 1b/2a chimeric hepatitis C virus in cell culture. ( 22099378 )
2012
39
Identification of residues involved in NS2 homodimerization and elucidation of their impact on the HCV life cycle. ( 22329373 )
2012
40
Antagonism of the interferon-induced OAS-RNase L pathway by murine coronavirus ns2 protein is required for virus replication and liver pathology. ( 22704621 )
2012
41
Peptide vaccine candidates against classical swine fever virus: T cell and neutralizing antibody responses of dendrimers displaying E2 and NS2-3 epitopes. ( 20812373 )
2011
42
Hepatitis C virus NS2 protein serves as a scaffold for virus assembly by interacting with both structural and nonstructural proteins. ( 20962101 )
2011
43
Structure-based design of NS2 mutants for attenuated influenza A virus vaccines. ( 20970464 )
2011
44
Crucial role of the influenza virus NS2 (NEP) C-terminal domain in M1 binding and nuclear export of vRNP. ( 21081124 )
2011
45
Hepatitis C virus NS2 coordinates virus particle assembly through physical interactions with the E1-E2 glycoprotein and NS3-NS4A enzyme complexes. ( 21147927 )
2011
46
Efficient culture adaptation of hepatitis C virus recombinants with genotype-specific core-NS2 by using previously identified mutations. ( 21177811 )
2011
47
The subcellular localization of the hepatitis C virus non-structural protein NS2 is regulated by an ion channel-independent function of the p7 protein. ( 21177929 )
2011
48
Recruitment of DNA replication and damage response proteins to viral replication centers during infection with NS2 mutants of Minute Virus of Mice (MVM). ( 21193212 )
2011
49
Classical swine fever virus NS2 protein promotes interleukin-8 expression and inhibits MG132-induced apoptosis. ( 21318239 )
2011
50
NS2 protein of hepatitis C virus interacts with structural and non-structural proteins towards virus assembly. ( 21347350 )
2011

Variations for Noonan Syndrome 2

Expression for Noonan Syndrome 2

Search GEO for disease gene expression data for Noonan Syndrome 2.

Pathways for Noonan Syndrome 2

Pathways related to Noonan Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 DDX58 IRF3 MAVS RNASEL STAT2 XPO1
2 12.17 DDX58 IRF3 MAVS RNASEL STAT2
3
Show member pathways
12.16 DDX58 IRF3 RNASEL STAT2
4 11.93 DDX58 IRF3 MAVS STAT2
5 11.22 CD81 DDX58 IRF3 MAVS RNASEL STAT2
6 10.97 DDX58 MAVS
7
Show member pathways
10.62 DDX58 IRF3 MAVS STAT2

GO Terms for Noonan Syndrome 2

Biological processes related to Noonan Syndrome 2 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 CD81 DDX58 HAND1 IRF3 MAVS RNASEL
2 type I interferon signaling pathway GO:0060337 9.63 IRF3 RNASEL STAT2
3 viral process GO:0016032 9.63 CD81 DDX58 IRF3 MAVS STAT2 XPO1
4 negative regulation of viral genome replication GO:0045071 9.58 MAVS RNASEL
5 response to exogenous dsRNA GO:0043330 9.58 DDX58 IRF3
6 positive regulation of interleukin-8 production GO:0032757 9.57 DDX58 MAVS
7 positive regulation of defense response to virus by host GO:0002230 9.56 DDX58 MAVS
8 positive regulation of interleukin-6 secretion GO:2000778 9.55 DDX58 MAVS
9 cellular response to exogenous dsRNA GO:0071360 9.54 DDX58 MAVS
10 positive regulation of tumor necrosis factor secretion GO:1904469 9.52 DDX58 MAVS
11 negative regulation of type I interferon production GO:0032480 9.5 DDX58 IRF3 MAVS
12 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.49 IRF3 MAVS
13 positive regulation of interferon-alpha secretion GO:1902741 9.48 DDX58 MAVS
14 positive regulation of myeloid dendritic cell cytokine production GO:0002735 9.43 DDX58 MAVS
15 positive regulation of interferon-beta production GO:0032728 9.43 DDX58 IRF3 MAVS
16 positive regulation of response to cytokine stimulus GO:0060760 9.4 DDX58 MAVS
17 positive regulation of interferon-beta secretion GO:0035549 9.37 DDX58 MAVS
18 defense response to virus GO:0051607 9.35 DDX58 IRF3 MAVS RNASEL STAT2
19 positive regulation of interferon-alpha production GO:0032727 8.8 DDX58 IRF3 MAVS

Sources for Noonan Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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