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MCID: NNN010
MIFTS: 49

Noonan Syndrome 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Noonan Syndrome 3

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MalaCards integrated aliases for Noonan Syndrome 3:

Name: Noonan Syndrome 3 57 12 53 75 29 13 6 73
Ns3 57 12 53 75
Kras Gene Related Noonan Syndrome 53
Noonan Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features present


HPO:

32
noonan syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Noonan Syndrome 3

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UniProtKB/Swiss-Prot : 75 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 hepatitis c and hepatitis. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The drugs Ribavirin and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and liver, and related phenotypes are hypertelorism and low-set ears

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

OMIM : 57 Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11. (609942)

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Related Diseases for Noonan Syndrome 3

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Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10

Diseases related to Noonan Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 hepatitis c 10.7
2 hepatitis 10.7
3 hepatitis c virus 10.7
4 dengue virus 10.3
5 encephalitis 10.3
6 japanese encephalitis 10.2
7 diarrhea 10.0
8 yellow fever 10.0
9 west nile virus 10.0
10 tick-borne encephalitis 10.0
11 type i 10.0
12 hepatocellular carcinoma 9.9
13 liver cirrhosis 9.9
14 murray valley encephalitis 9.9
15 autoimmune disease 9.7
16 cryoglobulinemia, familial mixed 9.7
17 autoimmune disease 1 9.7
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
19 glomerulonephritis 9.7
20 zika fever 9.7
21 cryoglobulinemia 9.7
22 membranoproliferative glomerulonephritis 9.7
23 zika virus infection 9.7
24 villonodular synovitis 9.4 PTPN11 SOS1
25 pulmonary valve stenosis 9.4 PTPN11 SOS1
26 pulmonary valve disease 9.3 PTPN11 SOS1
27 cryptorchidism, unilateral or bilateral 9.2 PTPN11 SHOC2
28 pilocytic astrocytoma 9.0 KRAS PTPN11
29 pulmonic stenosis 8.9 KRAS PTPN11 SOS1
30 costello syndrome 8.9 KRAS PTPN11 SOS1
31 juvenile myelomonocytic leukemia 8.8 KRAS PTPN11 SOS1
32 hypertrophic cardiomyopathy 8.6 KRAS PTPN11 SOS1
33 cardiofaciocutaneous syndrome 1 8.3 KRAS PTPN11 SHOC2 SOS1
34 noonan syndrome 1 8.3 KRAS PTPN11 SHOC2 SOS1
35 trehalase deficiency 8.2 KRAS PTPN11 SHOC2 SOS1

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



Diseases related to Noonan Syndrome 3
Sources

Symptoms & Phenotypes for Noonan Syndrome 3

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
dolichocephaly
scaphocephaly

Head And Neck Face:
frontal bossing

Head And Neck Nose:
short nose
anteverted nares
hypoplastic nasal bridge

Cardiovascular Heart:
hypertrophic cardiomyopathy
patent ductus arteriosus
atrial septal defect
mitral valve prolapse
ventricular septal defect
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

Head And Neck Neck:
webbed neck (in some patients)
cystic hygroma (in some patients)

Chest External Features:
broad thorax
thorax deformities

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
high palate

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
delayed bone age

Skeletal Skull:
craniosynostosis (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Neurologic Central Nervous System:
developmental delay, mild to severe (in some patients)


Clinical features from OMIM:

609942

Human phenotypes related to Noonan Syndrome 3:

32 (show all 13)
# 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 juvenile myelomonocytic leukemia 32 HP:0012209
13 atrial septal dilatation 32 HP:0011995

GenomeRNAi Phenotypes related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 KRAS PTPN11 SHOC2 SOS1

MGI Mouse Phenotypes related to Noonan Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.46 KRAS PTPN11 SHOC2 SOS1
2 embryo MP:0005380 9.26 KRAS PTPN11 SHOC2 SOS1
3 integument MP:0010771 8.92 KRAS PTPN11 SHOC2 SOS1
Sources

Drugs & Therapeutics for Noonan Syndrome 3

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

(show top 50) (show all 51)
# 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
Sofosbuvir Approved Phase 4,Phase 3,Phase 2 1190307-88-0 45375808
3
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
4 Interferon-alpha Phase 4,Phase 2,Phase 3,Phase 1
5 interferons Phase 4,Phase 3,Phase 2,Phase 1
6 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Liver Extracts Phase 4,Phase 3,Phase 2
9 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
10 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
11
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
12 Iron-Dextran Complex Phase 4
13
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
14
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
15
Ledipasvir Approved Phase 2, Phase 3,Phase 3 1256388-51-8 67505836
16
Peginterferon alfa-2b Approved Phase 2, Phase 3,Phase 1 99210-65-8, 215647-85-1
17
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
18
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
19 Anti-HIV Agents Phase 3,Phase 2
20 Anti-Retroviral Agents Phase 3,Phase 2
21 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2
22 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
23 Interferon-beta Phase 3
24 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
25 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3,Phase 3
26 Antibodies Phase 2, Phase 3
27 Immunoglobulins Phase 2, Phase 3
28 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
29 Reverse Transcriptase Inhibitors Phase 2, Phase 3
30
Tenofovir Phase 2, Phase 3 147127-20-6 464205
31 Atazanavir Sulfate Phase 3
32 Raltegravir Potassium Phase 3
33
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
34
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
36
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
37 tannic acid Approved, Nutraceutical Phase 2
38 Pharmaceutical Solutions Phase 2,Phase 1
39 Vaccines Phase 2,Phase 1
40 Antifungal Agents Phase 2
41 Antirheumatic Agents Phase 2
42 Calcineurin Inhibitors Phase 2
43 Cyclosporins Phase 2
44 Dermatologic Agents Phase 2
45 Immunosuppressive Agents Phase 2
46 triamcinolone acetonide Phase 2
47 Triamcinolone diacetate Phase 2
48 Triamcinolone hexacetonide Phase 2
49 Brewer's Yeast Nutraceutical Phase 2,Phase 1
50
Imidacloprid Vet_approved 105827-78-9 86418

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 A Study for G1b CHC Patients With CKD-3 Treated With Grazoprevir Plus Elbasvir Recruiting NCT03144635 Phase 4 Grazoprevir plus Elbasvir
2 deLIVER: Direct Acting Antiviral Effects on the Liver Active, not recruiting NCT02938013 Phase 4 Sofosbuvir/Velpatasvir/Voxilaprevir [SOF/VEL/VOX];Sofosbuvir/Velpatasvir (SOF/VEL)
3 Administration of Zepatier (Grazoprevir Plus Elbasvir) in Chronic Hemodialysis (HD) Patients With Hepatitis C Not yet recruiting NCT03365635 Phase 4 Elbasvir 50 MG / Grazoprevir 100 MG [Zepatier]
4 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 Telaprevir;Ribavirin
5 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 Withdrawn NCT03105349 Phase 4 elbasvir/grazoprevir;Sofosbuvir;Ribavirin
6 A Follow up Study Designed to Obtain Long Term Data on Participants Who Either Achieved a Sustained Virologic Response or Did Not Achieve a Sustained Virologic Response in an AbbVie Sponsored Hepatitis C Study Completed NCT01773070 Phase 3 ABT-450/ritonavir;ABT-333;ABT-267
7 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 No treatment
8 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 Simeprevir;Sofosbuvir
9 A Study to Evaluate Ombitasvir/Paritaprevir/Ritonavir and Dasabuvir in Treatment-Naïve Hepatitis C Virus Genotype 1b-Infected Adults Completed NCT02582632 Phase 3 ombitasvir/paritaprevir/ritonavir;dasabuvir
10 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 MP-424;RBV;IFN beta
11 8 Weeks Versus 12 Weeks of Elbasvir/Grazoprevir in Treatment-naïve CHC With Mild Fibrosis Recruiting NCT03186365 Phase 3 Zepatier Oral Product
12 DAAs Treatment for Chronic HCV/HBV Co-infection Patients(DASCO) Recruiting NCT02555943 Phase 2, Phase 3 Ledipasvir/Sofosbuvir;Sofosbuvir and Daclatasvir;Ombitasvir, Paritaprevir, Ritonavir, Dasabuvir;Entecavir;Tenofovir disoproxil
13 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 Ribavirin
14 A Study to Treat Subjects With Telaprevir, Ribavirin, and Peginterferon Who Are Coinfected With HIV and Hepatitis C Virus (HCV) Terminated NCT01467479 Phase 3 Telaprevir;Ribavirin;Highly Active Antiretroviral Therapy (HAART)
15 Efficacy and Safety of Ledipasvir/Sofosbuvir, With or Without Ribavirin, in HCV Infected Participants Who Have Failed Prior Treatment With Sofosbuvir-based Therapies Terminated NCT02600351 Phase 3 LDV/SOF;RBV
16 CHRONVAC-C Study Followed by Standard of Care in Chronic Hepatitis C Virus (HCV) Subjects Unknown status NCT01335711 Phase 2 ChronVac-C + SOC;SOC
17 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 Sofosbuvir/Ledipasvir fixed dose
18 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 GI-5005;Pegylated Interferon and Ribavirin
19 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 ribavirin;SCH 900518;ritonavir
20 A Phase 2b, Safety and Efficacy Study of Boceprevir in Patients Coinfected With HIV and Hepatitis C (P05411 AM4) Completed NCT00959699 Phase 2 PegIFN-2b;RBV;Placebo to Boceprevir;Boceprevir
21 Safety, Tolerability and Efficacy of 12-weeks of Sovaprevir, ACH-3102 and Ribavirin in Treatment-naive GT-1 HCV Subjects Completed NCT01849562 Phase 2 Sovaprevir;ACH-3102;RBV;Placebo
22 Simeprevir in Combination With Sofosbuvir in Treatment-Naïve or -Experienced Adults With Chronic Genotype 4 Hepatitis C Virus Infection Completed NCT02253550 Phase 2 Simeprevir;Sofosbuvir
23 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 Simeprevir 150 mg;Daclatasvir 60 mg;Sofosbuvir 400 mg
24 Safety Study of Pegylated Interferon Lambda Plus Single or 2 Direct Antiviral Agents With Ribavirin Completed NCT01309932 Phase 2 BMS-790052 (NS5A Inhibitor);Ribavirin (RBV);BMS-650032 (NS3 Protease Inhibitor);Ribavirin (RBV);Ribavirin (RBV);BMS-790052 (NS5A Inhibitor);BMS-650032 (NS3 Protease Inhibitor);Placebo (PBO) for BMS-650032 (Placebo for NS3 Protease Inhibitor);Placebo (PBO) for BMS-790052 (Placebo for NS5A Inhibitor);Placebo for Ribavirin (RBV);Placebo for Ribavirin (RBV)
25 Efficacy and Safety of Combinations of AL-335, Odalasvir (ODV) and Simeprevir (SMV) in the Treatment of Chronic Hepatitis C Infection Completed NCT02765490 Phase 2 AL-335;Odalasvir;Simeprevir
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 Simeprevir (SMV);Ledipasvir (LDV);Sofosbuvir (SOF)
27 A Study of Different Doses of Grazoprevir (MK-5172) Given With Pegylated Interferon Alfa-2b and Ribavirin to Treatment-Naïve Participants With Chronic Hepatitis C (MK-5172-038) Completed NCT01710501 Phase 2 Grazoprevir;Ribavirin;Placebo
28 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 Simeprevir;Daclatasvir;Ribavirin;Cyclosporine;Tacrolimus
29 Efficacy and Safety of Oral Regimens for the Treatment of Chronic HCV Infection Completed NCT02202980 Phase 2 LDV/SOF;RBV;SOF/VEL;VOX
30 A Randomized Study to Evaluate the Safety, Tolerability and Antiviral Activity of ABT-450, ABT-333 and ABT-072 Completed NCT01074008 Phase 2 ABT-450;ABT-072;ABT-333;Ritonavir;Peginterferon alpha-2a;Ribavirin
31 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Recruiting NCT03119025 Phase 1, Phase 2
32 A Direct obserVed therApy vs fortNightly CollEction Study for HCV Treatment - ADVANCE HCV Study Recruiting NCT03236506 Phase 2 Zepatier Pill;Sofosbuvir Pill
33 Short Duration Therapy of Acute Hepatitis C Genotypes 1 or 4 Recruiting NCT02886624 Phase 2 Grazoprevir/Elbasvir
34 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 Simeprevir;Daclatasvir;Sofosbuvir
35 Phase I-II Vaccination of Autologous Dendritic Cells Transduced With Adenoviral Vector Encoding NS3 in Hepatitis C Encoding NS3 in Hepatitis C Terminated NCT02309086 Phase 1, Phase 2
36 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 Telaprevir;Peginterferon alfa-2b;Ribavirin
37 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 Telaprevir;Ribavirin;Pegylated Interferon Alfa-2a;Immunosuppressant Regimen
38 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 GS-5885;GS-9451;RBV;PEG
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 Simeprevir (SMV) 150 mg;Daclatasvir (DCV) 60 mg
40 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Versus Placebo for the Treatment of Chronic Hepatitis C Infection Completed NCT00124215 Phase 1
41 A Study to Evaluate the Effect of ACH-3102 and Simeprevir on AL-335 Pharmacokinetics in Healthy Volunteers Completed NCT02512562 Phase 1 AL-335;ACH-3102;Simeprevir
42 A Drug Interaction Study of Boceprevir in Combination With Amlodipine or Diltiazem in Healthy Volunteers Withdrawn NCT01549496 Phase 1 Amlodipine;Diltiazem
43 TG4040 in Patients With Chronic HCV Withdrawn NCT00449124 Phase 1 Placebo
44 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
45 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
46 Evaluating the Role of Immune Responses in the Emergence of Protease Inhibitor Mutations Completed NCT01517529
47 Effect of Teleprevir in Triple Therapy on Intrahepatic Immunological Mechanisms Completed NCT01641094
48 Study the Usefulness of Bio-impedance Spectroscopy in the Early Assessment of Breast Cancer Related Lymphoedema Completed NCT01599039
49 Study of Human Epidermal Growth Receptor (HER2) Status Evaluation in Breast Cancer Pathology Samples Completed NCT02580799
50 Eliminating Hepatitis C Transmission by Enhancing Care and Treatment Among HIV Co-infected Individuals Recruiting NCT02786758

Search NIH Clinical Center for Noonan Syndrome 3

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Genetic Tests for Noonan Syndrome 3

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Genetic tests related to Noonan Syndrome 3:

# Genetic test Affiliating Genes
1 Noonan Syndrome 3 29 KRAS
Sources

Anatomical Context for Noonan Syndrome 3

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MalaCards organs/tissues related to Noonan Syndrome 3:

41
Heart, Skin, Liver, Bone
Sources

Publications for Noonan Syndrome 3

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Sources

Variations for Noonan Syndrome 3

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

75
# 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
(show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
2 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh38 Chromosome 10, 110964362: 110964362
3 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
4 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
5 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
6 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh38 Chromosome 12, 25227351: 25227351
7 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
8 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh38 Chromosome 12, 25245345: 25245345
9 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh37 Chromosome 12, 25362841: 25362841
10 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh38 Chromosome 12, 25209907: 25209907
11 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
12 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh38 Chromosome 12, 25245372: 25245372
13 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
14 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh38 Chromosome 12, 25227346: 25227346
15 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Likely pathogenic rs28933406 GRCh37 Chromosome 11, 533875: 533875
16 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Likely pathogenic rs28933406 GRCh38 Chromosome 11, 533875: 533875
17 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
18 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
19 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
20 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
21 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
22 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
23 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
24 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416
25 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
26 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
27 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
28 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh38 Chromosome 12, 112489105: 112489105
29 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254
30 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh38 Chromosome 12, 25245320: 25245320
31 PTPN11 NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys) single nucleotide variant Pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
32 PTPN11 NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys) single nucleotide variant Pathogenic rs397507506 GRCh38 Chromosome 12, 112450354: 112450354
33 PTPN11 NM_002834.4(PTPN11): c.181G> C (p.Asp61His) single nucleotide variant Pathogenic rs397507510 GRCh37 Chromosome 12, 112888165: 112888165
34 PTPN11 NM_002834.4(PTPN11): c.181G> C (p.Asp61His) single nucleotide variant Pathogenic rs397507510 GRCh38 Chromosome 12, 112450361: 112450361
35 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh37 Chromosome 12, 112888165: 112888165
36 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh38 Chromosome 12, 112450361: 112450361
37 PTPN11 NM_002834.4(PTPN11): c.211T> C (p.Phe71Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507512 GRCh37 Chromosome 12, 112888195: 112888195
38 PTPN11 NM_002834.4(PTPN11): c.211T> C (p.Phe71Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507512 GRCh38 Chromosome 12, 112450391: 112450391
39 PTPN11 NM_002834.4(PTPN11): c.214G> C (p.Ala72Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
40 PTPN11 NM_002834.4(PTPN11): c.214G> C (p.Ala72Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
41 PTPN11 NM_002834.4(PTPN11): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507518 GRCh37 Chromosome 12, 112888312: 112888312
42 PTPN11 NM_002834.4(PTPN11): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507518 GRCh38 Chromosome 12, 112450508: 112450508
43 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
44 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh38 Chromosome 12, 112453279: 112453279
45 PTPN11 NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507531 GRCh37 Chromosome 12, 112910844: 112910844
46 PTPN11 NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507531 GRCh38 Chromosome 12, 112473040: 112473040
47 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh37 Chromosome 12, 112926908: 112926908
48 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh38 Chromosome 12, 112489104: 112489104
49 SOS1 NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys) single nucleotide variant Pathogenic rs397517154 GRCh37 Chromosome 2, 39249914: 39249914
50 SOS1 NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys) single nucleotide variant Pathogenic rs397517154 GRCh38 Chromosome 2, 39022773: 39022773
Sources

Expression for Noonan Syndrome 3

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

Pathways for Noonan Syndrome 3

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Pathways related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.64 KRAS PTPN11 SOS1
2
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.64 KRAS PTPN11 SOS1
3
Endometrial cancer 37
Show member pathways
 12.61 KRAS PTPN11 SOS1
4
Downstream signaling of activated FGFR2 66
Show member pathways
 12.6 KRAS PTPN11 SOS1
5
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.48 KRAS PTPN11 SOS1
6
Development HGF signaling pathway 22
Show member pathways
 12.47 KRAS PTPN11 SOS1
7
Immune response IL-23 signaling pathway 22
Show member pathways
 12.34 KRAS PTPN11 SOS1
8
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.33 KRAS PTPN11 SOS1
9
Negative regulation of FGFR3 signaling 66
Show member pathways
 12.31 KRAS PTPN11 SOS1
10
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.24 KRAS PTPN11 SOS1
11
Prolactin Signaling Pathway 1 37
Show member pathways
 12.19 KRAS PTPN11 SOS1
12
ErbB signaling pathway 1 37
Show member pathways
 12.17 KRAS PTPN11 SOS1
13
Development FGFR signaling pathway 22
Show member pathways
 12.15 KRAS PTPN11 SOS1
14
T cell receptor signaling pathway 37
Show member pathways
 12.12 KRAS PTPN11 SOS1
15
Phospholipase D signaling pathway 37
Show member pathways
 12.09 KRAS PTPN11 SOS1
16
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.07 KRAS PTPN11 SOS1
17
B cell receptor signaling pathway (KEGG) 37
Show member pathways
 12.04 KRAS PTPN11 SOS1
18
MET promotes cell motility 66
Show member pathways
 12 KRAS PTPN11 SOS1
19
Proteoglycans in cancer 37
11.94 KRAS PTPN11 SOS1
20
Signaling by FGFR2 in disease 66
Show member pathways
 11.93 KRAS SOS1
21
NGF Pathway 64
Show member pathways
 11.91 KRAS SOS1
22
Signaling by FGFR2 66
Show member pathways
 11.9 KRAS PTPN11 SOS1
23
Ras signaling pathway 37
Show member pathways
 11.9 KRAS PTPN11 SHOC2 SOS1
24
FoxO signaling pathway 37
Show member pathways
 11.87 KRAS SOS1
25
Hepatitis C 37
11.84 KRAS SOS1
26
Fc-GammaR Pathway 64
Show member pathways
 11.84 KRAS SOS1
27
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.84 KRAS PTPN11 SOS1
28
Cell surface interactions at the vascular wall 66
Show member pathways
 11.83 KRAS PTPN11 SOS1
29
GDNF-Family Ligands and Receptor Interactions 64
Show member pathways
 11.8 KRAS SOS1
30
DNA Damage Response (only ATM dependent) 1
11.78 KRAS SOS1
31
Glioblastoma Multiforme 64
11.76 KRAS SOS1
32
EGF/EGFR Signaling Pathway 1
11.76 KRAS PTPN11 SOS1
33
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.75 PTPN11 SOS1
34
Signaling by ERBB4 66
Show member pathways
 11.75 KRAS SOS1
35
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.75 PTPN11 SOS1
36
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.7 PTPN11 SOS1
37
TGF-beta Signaling Pathways 65
11.69 KRAS SOS1
38
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 11.69 KRAS PTPN11 SOS1
39
Development EGFR signaling via small GTPases 22
Show member pathways
 11.68 KRAS PTPN11 SOS1
40
Jak-Stat Signaling Pathway 67
11.67 KRAS PTPN11
41
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants 66
Show member pathways
 11.67 KRAS SOS1
42
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.67 PTPN11 SOS1
43
FGFR1 mutant receptor activation 66
Show member pathways
 11.65 KRAS SOS1
44
Gap junction 37
11.64 KRAS SOS1
45
IL6-mediated signaling events 1
Show member pathways
 11.63 PTPN11 SOS1
46
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.51 PTPN11 SOS1
47
Neurotrophic factor-mediated Trk receptor signaling 1
Show member pathways
 11.46 PTPN11 SOS1
48
IL-2 Signaling Pathway 1
Show member pathways
 11.46 KRAS PTPN11 SOS1
49
PDGFR-beta signaling pathway 1
11.41 PTPN11 SOS1
50
Hepatitis C and Hepatocellular Carcinoma 1
11.38 PTPN11 SOS1
Sources

GO Terms for Noonan Syndrome 3

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Biological processes related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.58 KRAS PTPN11 SOS1
2 leukocyte migration GO:0050900 9.5 KRAS PTPN11 SOS1
3 multicellular organism growth GO:0035264 9.48 PTPN11 SOS1
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.46 PTPN11 SHOC2
5 ERBB2 signaling pathway GO:0038128 9.43 KRAS SOS1
6 homeostasis of number of cells within a tissue GO:0048873 9.37 KRAS PTPN11
7 axon guidance GO:0007411 9.33 KRAS PTPN11 SOS1
8 neurotrophin TRK receptor signaling pathway GO:0048011 9.26 PTPN11 SOS1
9 Ras protein signal transduction GO:0007265 9.13 KRAS SHOC2 SOS1
10 epidermal growth factor receptor signaling pathway GO:0007173 8.8 KRAS PTPN11 SOS1
Sources

Sources for Noonan Syndrome 3

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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