MCID: NNN003
MIFTS: 73

Noonan Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Summaries for Noonan Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 Cardiomyopathy is the name for diseases of the heart muscle. these diseases enlarge your heart muscle or make it thicker and more rigid than normal. in rare cases, scar tissue replaces the muscle tissue. some people live long, healthy lives with cardiomyopathy. some people don't even realize they have it. in others, however, it can make the heart less able to pump blood through the body. this can cause serious complications, including heart failure abnormal heart rhythms heart valve problems sudden cardiac arrest heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. some types of cardiomyopathy run in families. in many people, however, the cause is unknown. treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. nih: national heart, lung, and blood institute

MalaCards: Noonan Syndrome, also known as cardiomyopathy, is related to neurofibromatosis-noonan syndrome and neurofibromatosis. An important gene associated with Noonan Syndrome is SOS1 (son of sevenless homolog 1 (Drosophila)), and among its related pathways are Development EPO induced Jak STAT pathway and Development FGFR signaling pathway. The compounds gdc 0879 and l-779,450 have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related mouse phenotypes are no phenotypic analysis and pigmentation.

Genetics Home Reference:22 Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

NIH Rare Diseases:44 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. noonan syndrome may be caused by mutations in any one of several genes including the ptpn11, kras, raf1, sos1, nras and braf genes. it is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. it is typically inherited in an autosomal dominant manner, although in many individuals with noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition. last updated: 9/28/2012

Wikipedia:66 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both... more...

Description from OMIM:48 611553, 613706, 163950, 613224, 609942 610733 more

GeneReviews summary for noonan

Aliases & Classifications for Noonan Syndrome

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 35MedlinePlus, 48OMIM, 36MeSH, 41NCIt, 59SNOMED-CT, 26ICD10
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Classifications:



Aliases & Descriptions:

noonan syndrome 9 66 20 44 21 23 22 11 46 63
cardiomyopathy 66 21 23 46 35
turner's phenotype, karyotype normal 9 66 22
pseudo-ullrich-turner syndrome 66 44 22
female pseudo-turner syndrome 66 44 22
ullrich-noonan syndrome 66 44 22
male turner syndrome 66 44 22
turner syndrome in female with x chromosome 66 22
familial turner syndrome 66 22
noonan-ehmke syndrome 44 22
turner-like syndrome 66 22
cardiomyopathies 63


Related Diseases for Noonan Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Noonan Syndrome 1 family:

noonan syndrome Noonan Syndrome 2
Noonan Syndrome 3 Noonan Syndrome 4
Noonan Syndrome 5 Noonan Syndrome 6
Ptpn11-Related Noonan Syndrome Kras-Related Noonan Syndrome
Sos1-Related Noonan Syndrome Raf1-Related Noonan Syndrome
Nras-Related Noonan Syndrome Braf-Related Noonan Syndrome
Map2k1-Related Noonan Syndrome Noonan Syndrome 8
Noonan Syndrome 7

Diseases related to Noonan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 918)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis-noonan syndrome31.2PTPN11
2neurofibromatosis31.1KRAS, PTPN11
3noonan syndrome 131.0PTPN11
4leukemia30.8PTPN11, CBL, NRAS, RAF1, KRAS
5juvenile myelomonocytic leukemia30.7PTPN11, NRAS, KRAS
6leopard syndrome30.5RAF1, SOS1, PTPN11
7short stature30.4PTPN11, SOS1, BRAF, MAP2K2
8cardiofaciocutaneous syndrome30.3BRAF, MAP2K2, KRAS
9hepatitis30.2KRAS, RAF1, SOS1
10costello syndrome30.2PTPN11, SOS1, BRAF, MAP2K2, KRAS
11myeloid leukemia30.2PTPN11, CBL, RAF1
12congenital heart disease30.1PTPN11, SOS1, BRAF, MAP2K2, RAF1
13hepatitis c30.0KRAS, RAF1, SOS1, PTPN11
14pulmonary valve stenosis29.9SOS1, PTPN11
15sarcoma29.9KRAS, RAF1, NRAS, BRAF
16leopard syndrome 129.7PTPN11
17factor vii deficiency29.5KRAS, RAF1
18lung adenocarcinoma29.5KRAS, RAF1, BRAF
19colorectal cancer29.5BRAF, RAF1, KRAS
20burkitt's lymphoma29.4KRAS, RAF1, CBL, PTPN11
21ovarian cancer29.4BRAF, RAF1, KRAS
22dilated cardiomyopathy11.3
23peripartum cardiomyopathy11.0
24restrictive cardiomyopathy10.9
25arrhythmogenic right ventricular dysplasia10.8
26stress cardiomyopathy10.8
27alcoholic cardiomyopathy10.8
28familial dilated cardiomyopathy10.8
29doxorubicin induced cardiomyopathy10.7
30myocarditis10.7
31myopathy10.7
32hypertension10.6
33mitochondrial cardiomyopathy10.6
34left ventricular outflow tract obstruction10.6
35hypertrophic cardiomyopathy10.6
36left ventricular noncompaction10.6
37myocardial infarction10.6
38cirrhotic cardiomyopathy10.5
39noonan syndrome 310.5
40chagas disease10.5
41congestive heart failure10.5
42noonan syndrome 210.4
43noonan syndrome 410.4
44noonan syndrome 510.4
45noonan syndrome 610.4
46amyloidosis10.4
47saldino-noonan syndrome10.4
48hypertensive heart disease10.4
49noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.4
50infantile histiocytoid cardiomyopathy10.4

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



Diseases related to noonan syndrome

Symptoms for Noonan Syndrome

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48OMIM
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Clinical features from OMIM:

611553,613706,163950,613224,609942,610733

Drugs & Therapeutics for Noonan Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Noonan Syndrome

Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome

Search NIH Clinical Center for Noonan Syndrome

Search CenterWatch for Noonan Syndrome

Genetic Tests for Noonan Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Noonan Syndrome:

id Genetic test Affiliating Genes
1 Noonan Syndrome21 SOS1
2 Cardiomyopathy (dilated) Multi-Gene Panels21
3 Cardiomyopathy (general) Multi-Gene Panels21
4 Cardiomyopathy (hypertrophic) Multi-Gene Panels21
5 Noonan's Syndrome23
6 Cardiomyopathy23

Anatomical Context for Noonan Syndrome

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34MalaCards
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MalaCards organs/tissues related to Noonan Syndrome:

34
Heart, Lung, Bone, Brain, Testes, Myeloid, Kidney, Small intestine, Breast, Cortex

Animal Models for Noonan Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Noonan Syndrome:

38 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9RAF1, NRAS, SOS1, PTPN11
2MP:00011868.3PTPN11, BRAF, CBL, KRAS
3MP:00053718.0PTPN11, CBL, NRAS, KRAS
4MP:00053828.0PTPN11, SOS1, BRAF, CBL, MAP2K2, RAF1
5MP:00053907.9PTPN11, SOS1, BRAF, CBL, MAP2K2, RAF1
6MP:00053887.8KRAS, RAF1, CBL, BRAF, PTPN11
7MP:00053697.7PTPN11, SOS1, BRAF, CBL, RAF1, KRAS
8MP:00053807.7PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
9MP:00053707.7PTPN11, BRAF, CBL, NRAS, RAF1, KRAS
10MP:00020067.6PTPN11, BRAF, MAP2K2, NRAS, RAF1, KRAS
11MP:00053817.6PTPN11, SOS1, BRAF, MAP2K2, NRAS, KRAS
12MP:00053797.5PTPN11, BRAF, CBL, MAP2K2, KRAS
13MP:00028737.4PTPN11, BRAF, MAP2K2, NRAS, RAF1, KRAS
14MP:00053857.3PTPN11, SOS1, BRAF, CBL, NRAS, RAF1
15MP:00053917.3PTPN11, SOS1, BRAF, MAP2K2, NRAS, RAF1
16MP:00053977.2PTPN11, SOS1, BRAF, CBL, NRAS, RAF1
17MP:00053877.2PTPN11, SOS1, BRAF, CBL, NRAS, RAF1
18MP:00107716.8KRAS, PTPN11, SOS1, BRAF, CBL, MAP2K2
19MP:00053846.7PTPN11, SOS1, BRAF, CBL, MAP2K2, NRAS
20MP:00053786.7PTPN11, SOS1, BRAF, CBL, MAP2K2, NRAS
21MP:00053766.7PTPN11, SOS1, BRAF, CBL, MAP2K2, NRAS
22MP:00107686.7PTPN11, SOS1, BRAF, CBL, MAP2K2, NRAS

Publications for Noonan Syndrome

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53PubMed
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Articles related to Noonan Syndrome:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
MAPK activation in mature cataract associated with Noonan syndrome. (24219368)
2013
2
Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation. (24072241)
2013
3
Ulerythema ophryogenes and Noonan syndrome. (23473284)
2013
4
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. (23918763)
2013
5
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. (22848035)
2012
6
Ocular manifestations of Noonan syndrome. (21815719)
2012
7
Noonan syndrome presenting with neurogenic intermittent claudication. (23807040)
2012
8
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. (21263000)
2011
9
Noonan syndrome: an anesthesiologist's perspective. (21860196)
2011
10
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (19953625)
2010
11
Marathon of eponyms: 14 Noonan syndrome. (20946318)
2010
12
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. (19437094)
2009
13
Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature. (19125092)
2009
14
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. (19737548)
2009
15
Growth in Noonan syndrome. (20029234)
2009
16
Noonan syndrome associated with systemic lupus erythematosus. (19213867)
2009
17
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. (18253957)
2008
18
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. (17704260)
2007
19
Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (17497712)
2007
20
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. (17339163)
2007
21
The natural history of Noonan syndrome: a long-term follow-up study. (16990350)
2007
22
Noonan syndrome and correction of the webbed neck. (17293292)
2007
23
Prevalence of migraine in Noonan syndrome. (17376109)
2007
24
Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations. (16267621)
2006
25
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? (16804314)
2006
26
Noonan syndrome with giant cell lesions. (16364097)
2006
27
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. (17020470)
2006
28
Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with noonan syndrome. (16088418)
2005
29
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
30
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. (15211660)
2004
31
Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome. (15034699)
2004
32
Neuropsychological developmental change in a case with Noonan syndrome: longitudinal assessment. (12767464)
2003
33
Editorial: Noonan syndrome--certitude replaces conjecture. (12161468)
2002
34
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. (12161469)
2002
35
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype- phenotype correlation, and phenotypic heterogeneity. (11992261)
2002
36
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. (11167926)
2001
37
Spinal deformities in Noonan syndrome: a clinical review of sixty cases. (11679599)
2001
38
Cardiopulmonary rehabilitation in a patient with Noonan syndrome. (10668781)
2000
39
Noonan syndrome presented with cystic hygroma and chylothorax: case report. (10493040)
1999
40
Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family. (9741475)
1998
41
Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. (9149755)
1997
42
Progressive hydrocephalus in Noonan syndrome. (9354850)
1997
43
Cerebral infarction in Noonan syndrome. (9215779)
1997
44
Multiple-marker screen positive results in Noonan syndrome. (8650132)
1996
45
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (8985499)
1996
46
Noonan syndrome with cafAc-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. (7586657)
1995
47
Noonan syndrome and neuroblastoma. (7581766)
1995
48
Familial Noonan syndrome. (8613296)
1995
49
Noonan syndrome. (7640194)
1995
50
Classical Noonan syndrome is not associated with deletions of 22q11. (7747795)
1995

Variations for Noonan Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Noonan Syndrome:

1 (show all 20)
id Gene Name Type Significance SNP ID Assembly Location
1SOS1NM_005633.3(SOS1): c.797C> A (p.Thr266Lys)single nucleotide variantPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
2SOS1NM_005633.3(SOS1): c.806T> G (p.Met269Arg)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
3SOS1NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly)single nucleotide variantPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
4SOS1NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
5SOS1NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg)single nucleotide variantPathogenicrs267607080GRCh37Chr 2, 39250275: 39250275
6PTPN11NM_002834.3(PTPN11): c.214G> T (p.Ala72Ser)single nucleotide variantPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
7PTPN11NM_002834.3(PTPN11): c.922A> G (p.Asn308Asp)single nucleotide variantPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
8PTPN11NM_002834.3(PTPN11): c.923A> G (p.Asn308Ser)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
9PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
10PTPN11NM_002834.3(PTPN11): c.188A> G (p.Tyr63Cys)single nucleotide variantPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
11PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
12PTPN11NM_002834.3(PTPN11): c.854T> C (p.Phe285Ser)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
13PTPN11NM_002834.3(PTPN11): c.236A> G (p.Gln79Arg)single nucleotide variantPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
14PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
15PTPN11NM_002834.3(PTPN11): c.5C> T (p.Thr2Ile)single nucleotide variantPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
16NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)single nucleotide variantPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
17RAF1NM_002880.3(RAF1): c.781C> T (p.Pro261Ser)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
18RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
19BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
20SHOC2NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly)single nucleotide variantPathogenicrs267607048GRCh37Chr 10, 112724120: 112724120

Expression for genes affiliated with Noonan Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Noonan Syndrome

Search GEO for disease gene expression data for Noonan Syndrome.

Pathways for genes affiliated with Noonan Syndrome

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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome, 55R&D Systems, 31KEGG, 52PharmGKB, 62Tocris Bioscience, 5Cell Signaling Technology
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Pathways related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 164)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
EPO Receptor Signaling39
EPO signaling pathway39
8.2CBL, PTPN11, SOS1, MAP2K2, RAF1
2
Show member pathways
Development Flt3 signaling61
8.2RAF1, MAP2K2, SOS1, CBL, PTPN11
38.2RAF1, MAP2K2, CBL, SOS1, PTPN11
4
Show member pathways
IL-2 Signaling pathway39
8.2MAP2K2, RAF1, CBL, SOS1, PTPN11
5
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
8.2PTPN11, RAF1, MAP2K2, CBL, SOS1
68.1RAF1, NRAS, MAP2K2, BRAF, SOS1
7
Show member pathways
8.1NRAS, MAP2K2, BRAF, SOS1, RAF1
8
Show member pathways
7.8KRAS, MAP2K2, NRAS, SOS1, RAF1
97.8KRAS, MAP2K2, BRAF, RAF1, SOS1
107.7MAP2K2, CBL, RAF1, KRAS, PTPN11
117.7SOS1, BRAF, PTPN11, RAF1, MAP2K2, CBL
12
Show member pathways
7.6RAF1, KRAS, NRAS, MAP2K2, BRAF
13
Show member pathways
7.6RAF1, NRAS, MAP2K2, KRAS, BRAF
147.6KRAS, MAP2K2, RAF1, NRAS, BRAF
15
Show member pathways
7.6CBL, RAF1, SOS1, NRAS, BRAF, MAP2K2
16
Show member pathways
7.6RAF1, NRAS, MAP2K2, CBL, BRAF, SOS1
17
Show member pathways
Development ERBB family signaling61
Development GDNF family signaling61
7.6SOS1, BRAF, CBL, MAP2K2, NRAS, RAF1
18
Show member pathways
7.4RAF1, KRAS, PTPN11, NRAS, SOS1, MAP2K2
19
Show member pathways
7.4PTPN11, SOS1, MAP2K2, NRAS, RAF1, KRAS
20
Show member pathways
7.4KRAS, MAP2K2, SOS1, RAF1, PTPN11, BRAF
21
Show member pathways
7.3MAP2K2, KRAS, SOS1, CBL, NRAS, RAF1
22
Show member pathways
7.3RAF1, KRAS, MAP2K2, SOS1, BRAF, NRAS
23
Show member pathways
MAPK signaling pathway39
7.3KRAS, RAF1, BRAF, SOS1, NRAS, MAP2K2
24
Show member pathways
7.3KRAS, RAF1, NRAS, BRAF, SOS1, MAP2K2
25
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
7.3SOS1, MAP2K2, NRAS, KRAS, RAF1, BRAF
26
Show member pathways
7.3SOS1, MAP2K2, NRAS, RAF1, KRAS, BRAF
27
Show member pathways
6.9CBL, SOS1, PTPN11, KRAS, MAP2K2, NRAS
286.9SOS1, CBL, MAP2K2, RAF1, NRAS, KRAS
29
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
6.9KRAS, RAF1, NRAS, MAP2K2, CBL, SOS1
30
Show member pathways
6.9RAF1, NRAS, MAP2K2, CBL, SOS1, PTPN11
31
Show member pathways
6.9PTPN11, SOS1, NRAS, RAF1, KRAS, CBL
32
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
6.9MAP2K2, KRAS, PTPN11, CBL, RAF1, NRAS
336.9SOS1, KRAS, PTPN11, BRAF, MAP2K2, NRAS
34
Show member pathways
6.9RAF1, KRAS, NRAS, MAP2K2, SOS1, BRAF
35
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
6.9PTPN11, SOS1, BRAF, MAP2K2, NRAS, RAF1
36
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
6.9KRAS, MAP2K2, CBL, BRAF, SOS1, PTPN11
37
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
6.8CBL, RAF1, NRAS, MAP2K2, KRAS, BRAF
38
Show member pathways
Signal transduction PTEN pathway61
6.8KRAS, RAF1, NRAS, MAP2K2, CBL, SOS1
39
Show member pathways
Signaling Pathways in Glioblastoma39
6.8BRAF, SOS1, MAP2K2, NRAS, RAF1, KRAS
406.8SOS1, BRAF, CBL, MAP2K2, NRAS, KRAS
41
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
6.8MAP2K2, BRAF, SOS1, NRAS, CBL, KRAS
42
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
6.4CBL, PTPN11, SOS1, BRAF, NRAS, MAP2K2
43
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
6.4RAF1, NRAS, MAP2K2, CBL, BRAF, SOS1
44
Show member pathways
Immune response CD16 signaling in NK cells61
6.4PTPN11, SOS1, BRAF, CBL, MAP2K2, NRAS
45
Show member pathways
6.4NRAS, RAF1, MAP2K2, PTPN11, SOS1, BRAF
46
Show member pathways
6.4KRAS, RAF1, NRAS, MAP2K2, CBL, BRAF
47
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
6.4CBL, MAP2K2, NRAS, RAF1, KRAS, BRAF
486.4KRAS, BRAF, PTPN11, RAF1, NRAS, MAP2K2
496.4KRAS, RAF1, NRAS, MAP2K2, CBL, BRAF
50
Show member pathways
6.4KRAS, PTPN11, BRAF, MAP2K2, CBL, NRAS

Compounds for genes affiliated with Noonan Syndrome

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Sources:
62Tocris Bioscience, 46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB
See all sources

Compounds related to Noonan Syndrome according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1gdc 08796210.0BRAF, RAF1
2l-779,4506210.0BRAF, RAF1
3gw 5074629.9BRAF, RAF1
4sb 590885629.9BRAF, RAF1
5gw-5074469.9RAF1, BRAF
6zm 33637262 4610.9RAF1, BRAF
7dabrafenib52 1210.9RAF1, BRAF
8trametinib52 1210.7MAP2K2, BRAF
9sodium orthovanadate46 6210.6RAF1, PTPN11
10pd-184352469.6RAF1, KRAS
11ag 1478469.5PTPN11, CBL, RAF1
1217-(allylamino)-17-demethoxygeldanamycin469.5RAF1, BRAF
13panitumumab46 52 1211.5BRAF, KRAS
14phosphotyrosine469.4PTPN11, CBL, RAF1
15sb 20358046 6210.4RAF1, BRAF, PTPN11
16geldanamycin46 52 62 1212.4RAF1, CBL, BRAF
17phenylalanine469.4CBL, BRAF, PTPN11
18o6-methylguanine469.4KRAS, BRAF
19cetuximab46 52 1211.3BRAF, KRAS
20depsipeptide469.2BRAF, RAF1
21crcs469.2KRAS, BRAF
22forskolin46 52 1211.2RAF1, BRAF, PTPN11
23regorafenib52 1210.1KRAS, RAF1, BRAF
24agar469.1PTPN11, BRAF, NRAS, RAF1
25valine469.0KRAS, RAF1, BRAF
26pd 98,059469.0BRAF, MAP2K2, RAF1
27alanine468.9PTPN11, BRAF, CBL, RAF1
28paclitaxel46 52 1210.9KRAS, RAF1, BRAF
29adp46 30 2510.8PTPN11, BRAF, MAP2K2, RAF1
30gtp46 309.7KRAS, RAF1, BRAF, SOS1
31ly294002468.7PTPN11, BRAF, RAF1, KRAS
32cisplatin46 52 62 1211.7PTPN11, BRAF, RAF1, KRAS
33h2o2468.7PTPN11, CBL, RAF1, KRAS
34Adenosine triphosphate25 129.7RAF1, MAP2K2, CBL, BRAF
35vegf468.7PTPN11, BRAF, RAF1, KRAS
36threonine468.4PTPN11, BRAF, CBL, MAP2K2, RAF1
37retinoic acid46 259.4BRAF, CBL, RAF1, KRAS
38oligonucleotide468.3PTPN11, BRAF, NRAS, RAF1, KRAS
39imatinib46 52 1210.3PTPN11, BRAF, CBL, RAF1, KRAS
40rapamycin468.3PTPN11, BRAF, CBL, RAF1, KRAS
41lipid468.2KRAS, CBL, BRAF, SOS1, PTPN11
42wortmannin467.6PTPN11, BRAF, CBL, MAP2K2, RAF1, KRAS
43phosphoinositide467.6PTPN11, BRAF, CBL, MAP2K2, RAF1, KRAS
44phosphatidylinositol467.3KRAS, PTPN11, SOS1, BRAF, CBL, MAP2K2
45serine467.3PTPN11, SOS1, BRAF, CBL, MAP2K2, RAF1
46tyrosine466.8PTPN11, SOS1, BRAF, CBL, MAP2K2, NRAS

GO Terms for genes affiliated with Noonan Syndrome

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Sources:
17Gene Ontology
See all sources

Cellular components related to Noonan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.4BRAF, CBL, NRAS, RAF1, KRAS, SOS1
2cytosolGO:0058297.4RAF1, MAP2K2, CBL, BRAF, SOS1, PTPN11

Biological processes related to Noonan Syndrome according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.3KRAS, NRAS
2regulation of synaptic transmission, GABAergicGO:0322289.2KRAS, NRAS
3visual learningGO:0085429.2KRAS, NRAS
4striated muscle cell differentiationGO:0511469.1KRAS, NRAS
5regulation of long-term neuronal synaptic plasticityGO:0481698.9KRAS, NRAS
6negative regulation of neuron apoptotic processGO:0435248.7BRAF, NRAS, KRAS
7leukocyte migrationGO:0509008.7PTPN11, SOS1, NRAS, KRAS
8MAPK cascadeGO:0001658.4KRAS, RAF1, NRAS, MAP2K2
9blood coagulationGO:0075968.2PTPN11, SOS1, NRAS, RAF1, KRAS
10Ras protein signal transductionGO:0072658.1SOS1, MAP2K2, NRAS, RAF1, KRAS
11activation of MAPKK activityGO:0001867.9BRAF, MAP2K2, NRAS, RAF1, KRAS
12insulin receptor signaling pathwayGO:0082867.7PTPN11, SOS1, MAP2K2, NRAS, RAF1, KRAS
13Fc-epsilon receptor signaling pathwayGO:0380957.7PTPN11, SOS1, MAP2K2, NRAS, RAF1, KRAS
14axon guidanceGO:0074117.7PTPN11, SOS1, MAP2K2, NRAS, RAF1, KRAS
15innate immune responseGO:0450877.7PTPN11, SOS1, MAP2K2, NRAS, RAF1, KRAS
16small GTPase mediated signal transductionGO:0072647.6SOS1, BRAF, MAP2K2, NRAS, RAF1, KRAS
17epidermal growth factor receptor signaling pathwayGO:0071737.2PTPN11, SOS1, CBL, MAP2K2, NRAS, RAF1
18neurotrophin TRK receptor signaling pathwayGO:0480117.2PTPN11, SOS1, BRAF, MAP2K2, NRAS, RAF1
19fibroblast growth factor receptor signaling pathwayGO:0085436.7KRAS, PTPN11, SOS1, BRAF, CBL, MAP2K2

Molecular functions related to Noonan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:0312679.6RAF1, BRAF
2mitogen-activated protein kinase kinase bindingGO:0314349.5RAF1, BRAF
3MAP kinase kinase kinase activityGO:0047099.2RAF1, BRAF
4protein serine/threonine kinase activityGO:0046748.9RAF1, MAP2K2, BRAF
5protein bindingGO:0055156.8PTPN11, SOS1, BRAF, CBL, MAP2K2, RAF1

Products for genes affiliated with Noonan Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Noonan Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet