NS3
MCID: NNN010
MIFTS: 35

Noonan Syndrome 3 (NS3) malady

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

Aliases & Classifications for Noonan Syndrome 3

Aliases & Descriptions for Noonan Syndrome 3:

Name: Noonan Syndrome 3 54 12 50 66 29 13 69
Ns3 12 50 66
Kras Gene Related Noonan Syndrome 50

Characteristics:

HPO:

32
noonan syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 609942
Disease Ontology 12 DOID:0060581
MedGen 40 C1860991
MeSH 42 D009634

Summaries for Noonan Syndrome 3

UniProtKB/Swiss-Prot : 66 Noonan syndrome 3: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.

MalaCards based summary : Noonan Syndrome 3, also known as ns3, is related to kras-related noonan syndrome and leukemia, acute myelomonocytic, somatic, somatic, and has symptoms including hypertelorism, low-set ears and frontal bossing. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase). The drugs Ribavirin and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include heart and skin.

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the KRAS gene.

OMIM : 54 Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features,... (609942) more...

Related Diseases for Noonan Syndrome 3

Graphical network of the top 20 diseases related to Noonan Syndrome 3:



Diseases related to Noonan Syndrome 3

Symptoms & Phenotypes for Noonan Syndrome 3

Clinical features from OMIM:

609942

Human phenotypes related to Noonan Syndrome 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 frontal bossing 32 HP:0002007
4 global developmental delay 32 HP:0001263
5 short nose 32 HP:0003196
6 anteverted nares 32 HP:0000463
7 short stature 32 HP:0004322
8 webbed neck 32 HP:0000465
9 ventricular septal defect 32 HP:0001629
10 pulmonic stenosis 32 HP:0001642
11 sagittal craniosynostosis 32 HP:0004442
12 atrial septal aneurysm 32 HP:0011995
13 juvenile myelomonocytic leukemia 32 HP:0012209

Drugs & Therapeutics for Noonan Syndrome 3

Drugs for Noonan Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 80)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
2
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
3
Sofosbuvir Approved Phase 4,Phase 3,Phase 2 1190307-88-0 45375808
4 interferons Phase 4,Phase 3,Phase 2,Phase 1
5 Interferon-alpha Phase 4,Phase 2,Phase 3,Phase 1
6 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
8 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
9
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
10
Peginterferon alfa-2b Approved Phase 2, Phase 3,Phase 1 99210-65-8, 215647-85-1
11
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
12
Ledipasvir Approved Phase 2, Phase 3 1256388-51-8 67505836
13
Simvastatin Approved Phase 3 79902-63-9 54454
14
Ivermectin Approved, Vet_approved Phase 2, Phase 3 70288-86-7 6474909 46936176
15
Tenofovir Approved, Investigational Phase 2, Phase 3 147127-20-6 464205
16
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
17
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
18
protease inhibitors Phase 3,Phase 2,Phase 1
19 HIV Protease Inhibitors Phase 3,Phase 2,Phase 1
20 Cytochrome P-450 CYP3A Inhibitors Phase 2, Phase 3
21 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
22 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
23 Hormone Antagonists Phase 3
24 Hormones Phase 3
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
26 Anti-HIV Agents Phase 2, Phase 3
27 Interferon-beta Phase 3
28 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3
29 Liver Extracts Phase 3,Phase 2
30 Anti-Retroviral Agents Phase 2, Phase 3
31 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
33 Hypolipidemic Agents Phase 3
34 Immunoglobulins Phase 2, Phase 3
35 Anticholesteremic Agents Phase 3
36 Lipid Regulating Agents Phase 3
37 Reverse Transcriptase Inhibitors Phase 2, Phase 3
38 Antibodies Phase 2, Phase 3
39 Antiparasitic Agents Phase 2, Phase 3
40 Raltegravir Potassium Phase 3
41 Atazanavir Sulfate Phase 3
42
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
43
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
44
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
45
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
46
Lenograstim Approved Phase 2 135968-09-1
47
Zinc Approved Phase 2 7440-66-6 32051 23994
48
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
49 Vaccines Phase 2,Phase 1
50 Pharmaceutical Solutions Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 54)
id Name Status NCT ID Phase
1 A Study for G1b CHC Patients With CKD-3 Treated With Grazoprevir Plus Elbasvir Recruiting NCT03144635 Phase 4
2 A Clinical Trial of 16 Weeks of Duration to Evaluate Retreatment With Elbasvir/Grazoprevir Plus Sofosbuvir and Ribavirin in Patients With Chronic Hepatitis C Genotypes 1,4 Who Have Failed to Treat With a Regime Based on an Inhibitor of the NS5A Not yet recruiting NCT03105349 Phase 4
3 Telaprevir, Peg-IFN-alfa-2a, and RBV in Treatment-Experienced Black/African American and Non-Black/African American Subjects With Genotype 1 Chronic Hepatitis C Terminated NCT01467492 Phase 4
4 3-year Follow-up Study in Patients Previously Treated With TMC435-Containing Regimen for the Treatment of Hepatitis C Virus Infection Completed NCT01349465 Phase 3
5 Efficacy and Safety of MP-424, Interferon Beta (IFN Beta), and Ribavirin(RBV) in Treatment-Naïve or Having Received Interferon Based Therapy With Chronic Hepatitis C (CHC) Completed NCT01753570 Phase 3
6 Efficacy and Safety Study of Simeprevir in Combination With Sofosbuvir in Participants With Genotype 1 Chronic Hepatitis C Virus Infection and Cirrhosis Completed NCT02114151 Phase 3
7 Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Completed NCT01529840 Phase 3
8 Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Completed NCT00452725 Phase 3
9 Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Completed NCT01529944 Phase 3
10 Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Recruiting NCT02713945 Phase 3
11 DAAs Treatment for Chronic HCV/HBV Co-infection Patients(DASCO) Recruiting NCT02555943 Phase 2, Phase 3
12 Efficacy and Safety of Ivermectin Against Dengue Infection Recruiting NCT02045069 Phase 2, Phase 3
13 Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Active, not recruiting NCT01927861 Phase 3
14 Three-year Follow-up of Participants After Administration of Boceprevir or Narlaprevir for the Treatment of Chronic Hepatitis C (P05063) Terminated NCT00689390 Phase 2, Phase 3
15 A Study to Treat Subjects With Telaprevir, Ribavirin, and Peginterferon Who Are Coinfected With HIV and Hepatitis C Virus (HCV) Terminated NCT01467479 Phase 3
16 CHRONVAC-C Study Followed by Standard of Care in Chronic Hepatitis C Virus (HCV) Subjects Unknown status NCT01335711 Phase 2
17 Phase I-II Vaccination of Autologous Dendritic Cells Transduced With Adenoviral Vector Encoding NS3 in Hepatitis C Encoding NS3 in Hepatitis C Completed NCT02309086 Phase 1, Phase 2
18 Pilot Study to Assess Efficacy and Safety of Sofosbuvir/Ledipasvir Fixed-dose Combination in Treatment Experienced Subjects With Hepatitis C Virus (HCV) Genotype 1 - HIV Co-infection Completed NCT02125500 Phase 2
19 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Combined With Pegylated Interferon Plus Ribavirin Standard of Care Therapy Versus Standard of Care Alone in Patients With Genotype 1 Chronic Hepatitis C Infection Completed NCT00606086 Phase 2
20 A Pharmacokinetics/Pharmacodynamics Study of SCH 900518 in Previously Untreated Subjects With Genotype 1 Chronic Hepatitis C (Protocol No. P05104AM2)(COMPLETED) Completed NCT00797745 Phase 2
21 A Phase 2b, Safety and Efficacy Study of Boceprevir in Patients Coinfected With HIV and Hepatitis C (P05411 AM4) Completed NCT00959699 Phase 2
22 Safety, Tolerability and Efficacy of 12-weeks of Sovaprevir, ACH-3102 and Ribavirin in Treatment-naive GT-1 HCV Subjects Completed NCT01849562 Phase 2
23 Simeprevir in Combination With Sofosbuvir in Treatment-Naïve or -Experienced Adults With Chronic Genotype 4 Hepatitis C Virus Infection Completed NCT02253550 Phase 2
24 Safety Study of Pegylated Interferon Lambda Plus Single or 2 Direct Antiviral Agents With Ribavirin Completed NCT01309932 Phase 2
25 Study to Assess Efficacy, Safety, Tolerability and Pharmacokinetics of Simeprevir, Daclatasvir and Sofosbuvir in Treatment-naive Participants With Chronic Hepatitis C Virus Genotype 1 Infection Completed NCT02349048 Phase 2
26 A Study to Investigate the Pharmacokinetic Interactions Between Simeprevir and Ledipasvir in a Treatment Regimen Consisting of Simeprevir, Sofosbuvir, and Ledipasvir in Treatment-naive Participants With Chronic Hepatitis C Virus Genotype 1 Infection Completed NCT02421211 Phase 2
27 A Study of Pharmacokinetics, Efficacy, Safety, Tolerability, of the Combination of Simeprevir (TMC435), Daclatasvir (BMS-790052), and Ribavirin (RBV) in Patients With Recurrent Chronic Hepatitis C Genotype 1b Infection After Orthotopic Liver Transplantati Completed NCT01938625 Phase 2
28 A Randomized Study to Evaluate the Safety, Tolerability and Antiviral Activity of ABT-450, ABT-333 and ABT-072 Completed NCT01074008 Phase 2
29 G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical Response Completed NCT00397423 Phase 2
30 To Study GSP 301 in Patients With Seasonal Allergic Rhinitis Completed NCT02318303 Phase 2
31 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Recruiting NCT03119025 Phase 1, Phase 2
32 Efficacy and Safety of Combinations of AL-335, Odalasvir (ODV) and Simeprevir (SMV) in the Treatment of Chronic Hepatitis C Infection Active, not recruiting NCT02765490 Phase 2
33 An Efficacy, Safety and Pharmacokinetics Study of Simeprevir, Daclatasvir and Sofosbuvir in Participants With Chronic Hepatitis C Virus Genotype 1 or 4 Infection and Decompensated Liver Disease Active, not recruiting NCT02262728 Phase 2
34 Celgosivir or Modipafant as Treatment for Adult Participants With Uncomplicated Dengue Fever in Singapore Not yet recruiting NCT02569827 Phase 1, Phase 2
35 Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Terminated NCT00351221 Phase 2
36 GS-5885, GS-9451 With Peginterferon Alfa 2a (PEG) and Ribavirin in Treatment-Naïve Subjects With Chronic Genotype 1 Hep C Virus Infection and IL28B CC Genotype Terminated NCT01384383 Phase 2
37 An Open-Label Study of the Effect of Telaprevir in Combination With Peginterferon Alfa-2b and Ribavirin in Pediatric Subjects Infected With Hepatitis C Virus Terminated NCT01701063 Phase 1, Phase 2
38 An Open Label Study of the Effect of Telaprevir in Combination With Ribavirin and Peginterferon on HCV Infection in Stable Liver Transplant Patients Terminated NCT01467505 Phase 2
39 An Efficacy, Safety, Tolerability and Pharmacokinetics Study of 12 Weeks Treatment With Simeprevir and Daclatasvir in Participants With Chronic Hepatitis C Virus Genotype 1b or 4 Infection and Either Severe Renal Impairment or End-stage Renal Disease on H Withdrawn NCT02397395 Phase 2
40 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
41 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Versus Placebo for the Treatment of Chronic Hepatitis C Infection Completed NCT00124215 Phase 1
42 A Study to Evaluate the Effect of ACH-3102 and Simeprevir on AL-335 Pharmacokinetics in Healthy Volunteers Completed NCT02512562 Phase 1
43 A Drug Interaction Study of Boceprevir in Combination With Amlodipine or Diltiazem in Healthy Volunteers Withdrawn NCT01549496 Phase 1
44 TG4040 in Patients With Chronic HCV Withdrawn NCT00449124 Phase 1
45 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
46 Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, Taiwan Unknown status NCT01163123
47 An Observational/Non-interventional, Study of NS3/4a Protease and NS5A Protein of Hepatitis C Virus in Brazilian Participants With Chronic HCV Infection Completed NCT02597270
48 Evaluating the Role of Immune Responses in the Emergence of Protease Inhibitor Mutations Completed NCT01517529
49 Effect of Teleprevir in Triple Therapy on Intrahepatic Immunological Mechanisms Completed NCT01641094
50 Study the Usefulness of Bio-impedance Spectroscopy in the Early Assessment of Breast Cancer Related Lymphoedema Completed NCT01599039

Search NIH Clinical Center for Noonan Syndrome 3

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

id Genetic test Affiliating Genes
1 Noonan Syndrome 3 29

Anatomical Context for Noonan Syndrome 3

MalaCards organs/tissues related to Noonan Syndrome 3:

39
Heart, Skin

Publications for Noonan Syndrome 3

Variations for Noonan Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 3:

66
id Symbol AA change Variation ID SNP ID
1 KRAS p.Val14Ile VAR_026109 rs104894365
2 KRAS p.Thr58Ile VAR_026111 rs104894364
3 KRAS p.Gln22Arg VAR_064851 rs727503110
4 KRAS p.Pro34Leu VAR_064852 rs104894366
5 KRAS p.Pro34Gln VAR_064853
6 KRAS p.Ile36Met VAR_064854 rs727503109
7 KRAS p.Lys5Glu VAR_065144 rs193929331
8 KRAS p.Gly60Ser VAR_065146 rs104894359

ClinVar genetic disease variations for Noonan Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
2 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
3 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
4 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh37 Chromosome 12, 25362841: 25362841
5 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Pathogenic/Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
6 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280

Expression for Noonan Syndrome 3

Search GEO for disease gene expression data for Noonan Syndrome 3.

Pathways for Noonan Syndrome 3

GO Terms for Noonan Syndrome 3

Sources for Noonan Syndrome 3

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
Content
Loading form....