NS2
MCID: NNN009
MIFTS: 51

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 58 12 54 30 6 15 74
Ns2 58 12 54
Noonan Syndrome, Autosomal Recessive 58
Autosomal Recessive Noonan Syndrome 54
Noonan Syndrome Autosomal Recessive 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

Disease Ontology 12 DOID:0060580
OMIM 58 605275
ICD10 34 Q87.1
MedGen 43 C1854469
UMLS 74 C1854469

Summaries for Noonan Syndrome 2

OMIM : 58 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 influenza. An important gene associated with Noonan Syndrome 2 is LZTR1 (Leucine Zipper Like Transcription Regulator 1), and among its related pathways/superpathways are NF-kappaB Signaling and Interferon gamma signaling. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include heart, breast and t cells, and related phenotypes are Decreased interferon-beta reporter expression and Upregulation of RLR pathway after Sendai virus (SeV) infection

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

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cardiomyopathy
pulmonary valve stenosis
septal defects
coarctation of the aorta
mitral valve stenosis

Head And Neck Ears:
posteriorly rotated ears

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism (in some patients)
ptosis (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Chest Breasts:
widely spaced nipples (in some patients)

Head And Neck Head:
normal to increased occipitofrontal circumference (ofc)

Chest External Features:
broad chest (in some patients)

Skeletal:
arthrogryposis (in some patients)

Neoplasia:
leukemia (in 2 families)

Skin Nails Hair Hair:
curly hair

Neurologic Central Nervous System:
developmental delay
impaired intellectual development

Growth Height:
short stature (in some patients)
normal to increased birth length

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)

Growth Weight:
normal to increased birth weight

Head And Neck Neck:
broad, short neck

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Hematology:
coagulation defects (in some patients)

Clinical features from OMIM:

605275

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased interferon-beta reporter expression GR00307-A 9.26 IRF3 LZTR1 MAVS XPO1
2 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
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
2
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
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 Prednisolone acetate Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Anti-Inflammatory Agents Phase 2
10 Hormones Phase 2
11 Autonomic Agents Phase 2
12 Ophthalmic Solutions Phase 2
13 Antineoplastic Agents, Hormonal Phase 2
14 Hormone Antagonists Phase 2
15 Antiemetics Phase 2
16 Methylprednisolone Acetate Phase 2
17 Neuroprotective Agents Phase 2
18 Gastrointestinal Agents Phase 2
19 glucocorticoids Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
21 Pharmaceutical Solutions Phase 2
22 Protective Agents 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 30

Anatomical Context for Noonan Syndrome 2

MalaCards organs/tissues related to Noonan Syndrome 2:

42
Heart, Breast, T Cells, Liver, B Cells

Publications for Noonan Syndrome 2

Articles related to Noonan Syndrome 2:

(show top 50) (show all 187)
# 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
Gelatin nanoparticles enhance delivery of hepatitis C virus recombinant NS2 gene. ( 28746382 )
2017
5
Loss of Drosophila nucleostemin 2 (NS2) blocks nucleolar release of the 60S subunit leading to ribosome stress. ( 27150106 )
2017
6
Lineage A Betacoronavirus NS2 Proteins and the Homologous Torovirus Berne pp1a Carboxy-Terminal Domain Are Phosphodiesterases That Antagonize Activation of RNase L. ( 28003490 )
2017
7
Feline Panleucopenia Virus NS2 Suppresses the Host IFN-β Induction by Disrupting the Interaction between TBK1 and STING. ( 28125002 )
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
Inhibition of hepatitis C virus infection by DNA aptamer against NS2 protein. ( 24587329 )
2014
22
Determinants for membrane association of the hepatitis C virus NS2 protease domain. ( 24648458 )
2014
23
RSV-encoded NS2 promotes epithelial cell shedding and distal airway obstruction. ( 24713657 )
2014
24
NS2 proteins of GB virus B and hepatitis C virus share common protease activities and membrane topologies. ( 24741107 )
2014
25
Visual quality assessment after network transmission incorporating NS2 and Evalvid. ( 24883370 )
2014
26
Murine AKAP7 has a 2',5'-phosphodiesterase domain that can complement an inactive murine coronavirus ns2 gene. ( 24987090 )
2014
27
NS2 is dispensable for efficient assembly of hepatitis C virus-like particles in a bipartite trans-encapsidation system. ( 25024280 )
2014
28
Nuclear export of the influenza virus ribonucleoprotein complex: Interaction of Hsc70 with viral proteins M1 and NS2. ( 25161876 )
2014
29
The Minute Virus of Mice NS2 proteins are not essential for productive infection of embryonic murine cells in utero. ( 25310499 )
2014
30
Effects of hepatitis C virus gene NS2 on the expressions of Bcl-2 and Bax in HepG2 cells. ( 25823150 )
2014
31
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
32
Genetic and functional characterization of the N-terminal region of the hepatitis C virus NS2 protein. ( 23408609 )
2013
33
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
34
Hepatitis C virus NS2 protein inhibits DNA damage pathway by sequestering p53 to the cytoplasm. ( 23638118 )
2013
35
Identification of a linear B-cell epitope within the Bluetongue virus serotype 8 NS2 protein using a phage-displayed random peptide library. ( 23747319 )
2013
36
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
37
An adaptive mutation in NS2 is essential for efficient production of infectious 1b/2a chimeric hepatitis C virus in cell culture. ( 22099378 )
2012
38
Identification of residues involved in NS2 homodimerization and elucidation of their impact on the HCV life cycle. ( 22329373 )
2012
39
Antagonism of the interferon-induced OAS-RNase L pathway by murine coronavirus ns2 protein is required for virus replication and liver pathology. ( 22704621 )
2012
40
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
41
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
42
Classical swine fever virus NS2 protein promotes interleukin-8 expression and inhibits MG132-induced apoptosis. ( 21318239 )
2011
43
NS2 protein of hepatitis C virus interacts with structural and non-structural proteins towards virus assembly. ( 21347350 )
2011
44
Development and application of hepatitis C reporter viruses with genotype 1 to 7 core-nonstructural protein 2 (NS2) expressing fluorescent proteins or luciferase in modified JFH1 NS5A. ( 21697486 )
2011
45
Corrigendum to: Hepatitis C virus NS2 protein triggers endoplasmic reticulum stress and suppresses its own viral replication [J Hepatol. 2010 Nov;53(5):797–804] ( 28463552 )
2011
46
Peptide vaccine candidates against classical swine fever virus: T cell and neutralizing antibody responses of dendrimers displaying E2 and NS2-3 epitopes. ( 20812373 )
2011
47
Hepatitis C virus NS2 protein serves as a scaffold for virus assembly by interacting with both structural and nonstructural proteins. ( 20962101 )
2011
48
Structure-based design of NS2 mutants for attenuated influenza A virus vaccines. ( 20970464 )
2011
49
Crucial role of the influenza virus NS2 (NEP) C-terminal domain in M1 binding and nuclear export of vRNP. ( 21081124 )
2011
50
Hepatitis C virus NS2 coordinates virus particle assembly through physical interactions with the E1-E2 glycoprotein and NS3-NS4A enzyme complexes. ( 21147927 )
2011

Variations for Noonan Syndrome 2

ClinVar genetic disease variations for Noonan Syndrome 2:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 LZTR1 NM_006767.4(LZTR1): c.1943-256C> T single nucleotide variant Conflicting interpretations of pathogenicity rs761685529 GRCh37 Chromosome 22, 21349779: 21349779
2 LZTR1 NM_006767.4(LZTR1): c.1943-256C> T single nucleotide variant Conflicting interpretations of pathogenicity rs761685529 GRCh38 Chromosome 22, 20995490: 20995490
3 LZTR1 NM_006767.3(LZTR1): c.-38T> A single nucleotide variant Pathogenic GRCh37 Chromosome 22, 21336623: 21336623
4 LZTR1 NM_006767.3(LZTR1): c.-38T> A single nucleotide variant Pathogenic GRCh38 Chromosome 22, 20982334: 20982334
5 LZTR1 NM_006767.3(LZTR1): c.1311G> A (p.Trp437Ter) single nucleotide variant Pathogenic rs770933647 GRCh38 Chromosome 22, 20993712: 20993712
6 LZTR1 NM_006767.3(LZTR1): c.1311G> A (p.Trp437Ter) single nucleotide variant Pathogenic rs770933647 GRCh37 Chromosome 22, 21348001: 21348001
7 LZTR1 NM_006767.3(LZTR1): c.1382C> A (p.Ala461Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 21348241: 21348241
8 LZTR1 NM_006767.3(LZTR1): c.1382C> A (p.Ala461Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 20993952: 20993952
9 LZTR1 NM_006767.3(LZTR1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs147684991 GRCh37 Chromosome 22, 21348244: 21348244
10 LZTR1 NM_006767.3(LZTR1): c.1385T> C (p.Ile462Thr) single nucleotide variant Uncertain significance rs147684991 GRCh38 Chromosome 22, 20993955: 20993955
11 LZTR1 NM_006767.3(LZTR1): c.1407G> A (p.Trp469Ter) single nucleotide variant Pathogenic rs777243508 GRCh37 Chromosome 22, 21348266: 21348266
12 LZTR1 NM_006767.3(LZTR1): c.1407G> A (p.Trp469Ter) single nucleotide variant Pathogenic rs777243508 GRCh38 Chromosome 22, 20993977: 20993977
13 LZTR1 NM_006767.3(LZTR1): c.2246A> G (p.Tyr749Cys) single nucleotide variant Uncertain significance rs755260815 GRCh38 Chromosome 22, 20996722: 20996722
14 LZTR1 NM_006767.3(LZTR1): c.2246A> G (p.Tyr749Cys) single nucleotide variant Uncertain significance rs755260815 GRCh37 Chromosome 22, 21351011: 21351011
15 LZTR1 NM_006767.4(LZTR1): c.2220-17C> A single nucleotide variant Pathogenic GRCh38 Chromosome 22, 20996679: 20996679
16 LZTR1 NM_006767.4(LZTR1): c.2220-17C> A single nucleotide variant Pathogenic GRCh37 Chromosome 22, 21350968: 21350968
17 LZTR1 NM_006767.4(LZTR1): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 21343948: 21343948
18 LZTR1 NM_006767.4(LZTR1): c.628C> T (p.Arg210Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 20989659: 20989659
19 LZTR1 NM_006767.4(LZTR1): c.2264G> A (p.Arg755Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 21351029: 21351029
20 LZTR1 NM_006767.4(LZTR1): c.2264G> A (p.Arg755Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 20996740: 20996740
21 LZTR1 NM_006767.4(LZTR1): c.361C> G (p.His121Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 22, 21341833: 21341833
22 LZTR1 NM_006767.4(LZTR1): c.361C> G (p.His121Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 20987544: 20987544

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 12.07 DDX58 IRF3 MAVS RNASEL STAT2
2
Show member pathways
12.05 DDX58 IRF3 RNASEL STAT2
3
Show member pathways
11.91 DDX58 IRF3 MAVS RNASEL STAT2 XPO1
4 10.89 DDX58 MAVS
5
Show member pathways
10.29 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 9.98 CD81 DDX58 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 9.57 DDX58 IRF3
6 positive regulation of interleukin-8 production GO:0032757 9.56 DDX58 MAVS
7 positive regulation of defense response to virus by host GO:0002230 9.55 DDX58 MAVS
8 positive regulation of interleukin-6 secretion GO:2000778 9.54 DDX58 MAVS
9 cellular response to exogenous dsRNA GO:0071360 9.52 DDX58 MAVS
10 positive regulation of tumor necrosis factor secretion GO:1904469 9.51 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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