MCID: NNN003
MIFTS: 73

Noonan Syndrome malady

Cardiovascular, Genetic categories

Summaries for Noonan Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 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 IL-3 Signaling Pathway and FGFR2c ligand binding and activation. The compounds estrogen and glutamate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and kidney, and related mouse phenotypes are embryogenesis and limbs/digits/tail.

Genetics Home Reference:21 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:43 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:64 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both... more...

Description from OMIM:47 613224, 163950, 609942, 611553, 610733 613706 more

GeneReviews summary for noonan

Aliases & Classifications for Noonan Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 34MedlinePlus, 40NCIt, 57SNOMED-CT, 35MeSH, 47OMIM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular


Aliases & Descriptions:

noonan syndrome 8 64 19 43 20 22 21 10 45 61
cardiomyopathy 64 20 22 45 34
turner's phenotype, karyotype normal 8 64 21
pseudo-ullrich-turner syndrome 64 43 21
female pseudo-turner syndrome 64 43 21
ullrich-noonan syndrome 64 43 21
male turner syndrome 64 43 21
turner syndrome in female with x chromosome 64 21
familial turner syndrome 64 21
noonan-ehmke syndrome 43 21
turner-like syndrome 64 21
cardiomyopathies 61


Related Diseases for Noonan Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the noonan syndrome 1 family:

noonan syndrome noonan syndrome 2
noonan syndrome 3 noonan syndrome 4
noonan syndrome 5 noonan syndrome 6
noonan-like syndrome with loose anagen hair noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia
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 910)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis-noonan syndrome31.1NF1, PTPN11
2neurofibromatosis31.0GHR, NF1, HRAS, RAF1, KRAS, PTPN11
3hypertrophic cardiomyopathy30.9PTPN11
4juvenile myelomonocytic leukemia30.7PTPN11, NF1
5noonan syndrome 530.6RAF1
6acute leukemia30.6NF1, CBL, HRAS, KRAS, ACP1, PTPN11
7leopard syndrome30.5PTPN11, ACP1, RAF1, HRAS, SHOC2, SOS1
8pheochromocytoma30.5NF1, MAPK1, RAF1, ACP1
9short stature30.4BRAF, SOS1, GHR, NF1, PTPN11, HRAS
10cardiofaciocutaneous syndrome30.3BRAF, MAP2K2, MAP2K1, KRAS
11costello syndrome30.3PTPN11, KRAS, HRAS, MAP2K1, MAP2K2, SHOC2
12turner syndrome30.3IGF1, IGFBP3, GHR
13myeloproliferative disorder30.3NF1, HRAS, PTPN11
14insulin resistance30.2GHR, IGFBP3, IGF1, MAP2K1, MAPK1, ACP1
15hepatitis c30.0PTPN11, KRAS, RAF1, SOS1
16hyperinsulinism30.0IGF1, IGFBP3, GHR
17hypoglycemia30.0GHR, IGFBP3, IGF1
18pilocytic astrocytoma29.9NF1
19mental retardation29.9BRAF, GHR, NF1, HRAS, PTPN11
20astrocytoma29.9MAPK1, NF1, GHR, ACP1, HRAS
21dwarfism29.9MAP2K1, IGF1, IGFBP3, GHR
22burkitt's lymphoma29.9NF1, CBL, HRAS, RAF1, KRAS, ACP1
23anorexia nervosa29.9IGF1, IGFBP3, GHR
24adenocarcinoma29.9HGF, BRAF, GHR, MAP2K1, MAPK1, HRAS
25arthritis29.7PTPN11
26hepatitis b29.7KRAS, RAF1, HRAS
27werner syndrome29.5IGFBP3
28tuberous sclerosis29.5MAPK1, NF1
29insulinoma29.5GHR
30polycystic kidney disease29.5MAPK1, BRAF, HGF
31colorectal cancer29.5BRAF, NF1, MAPK1, HRAS, RAF1, KRAS
32n syndrome11.3
33peripartum cardiomyopathy11.0
34tako-tsubo cardiomyopathy10.9
35stress cardiomyopathy10.9
36familial dilated cardiomyopathy10.8
37mitochondrial cardiomyopathy10.8
38alcoholic cardiomyopathy10.8
39doxorubicin induced cardiomyopathy10.7
40left ventricular outflow tract obstruction10.6
41left ventricular noncompaction10.6
42noonan syndrome 110.5
43cirrhotic cardiomyopathy10.5
44char syndrome10.5
45noonan syndrome 310.5
46adult syndrome10.5
47chagas disease10.5
48short syndrome10.4
49noonan syndrome 210.4
50noonan syndrome 410.4

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



Diseases related to noonan syndrome

Clinical Features for Noonan Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613224,163950,609942,611553,610733,613706

Drugs & Therapeutics for Noonan Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Noonan Syndrome:

id Genetic test Affiliating Genes
1 Noonan Syndrome20 SOS1
2 Cardiomyopathy (dilated) Multi-gene Panels20
3 Cardiomyopathy (general) Multi-gene Panels20
4 Cardiomyopathy (hypertrophic) Multi-gene Panels20
5 Noonan's Syndrome22
6 Cardiomyopathy22

Anatomical Context for Noonan Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Noonan Syndrome:

33
Spinal cord, Brain, Kidney, Lung, Cortex, Heart, Skeletal muscle, Small intestine, Thyroid, Breast, Myeloid, T cells, B lymphoblasts, B cells, Fetal brain, Fetal thyroid, Adrenal cortex

Animal Models for Noonan Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Noonan Syndrome:

37 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538010.6GHR, SHOC2
2MP:000537110.5PTPN11, CBL
3MP:000539110.4SOS1, MAP2K2, MAP2K1, RAF1
4MP:000118610.4NF1
5MP:000537510.3CBL, IGFBP3, GHR
6MP:000200610.3BRAF, NRAS, NF1, IGF1, MAP2K2, HRAS
7MP:000539010.3GHR, NF1, IGF1, CBL, HRAS
8MP:000537710.2NF1, MAP2K2, MAP2K1, CBL, PTPN11
9MP:000537910.2GHR, NF1, MAP2K1, CBL, HRAS, KRAS
10MP:000538810.2SHOC2, NF1, IGF1, MAPK1, RAF1, KRAS
11MP:001077110.2SOS1, SHOC2, NRAS, MAP2K2, MAP2K1, CBL
12MP:000536910.1BRAF, SOS1, NF1, IGFBP3, IGF1, MAPK1
13MP:000538210.1BRAF, SOS1, NF1, MAP2K2, MAP2K1, CBL
14MP:000363110.1GHR, NF1, MAP2K1, MAPK1, HRAS, RAF1
15MP:000537610.0SOS1, GHR, SHOC2, NRAS, NF1, IGFBP3
16MP:000537010.0NRAS, GHR, BRAF, HGF, NF1, IGFBP3
17MP:00053819.9BRAF, SOS1, NRAS, MAP2K2, MAP2K1, KRAS
18MP:00028739.9BRAF, SHOC2, NRAS, NF1, IGF1, MAP2K2
19MP:00053879.8NF1, NRAS, GHR, SOS1, BRAF, IGF1
20MP:00053979.8NRAS, GHR, SOS1, BRAF, HGF, NF1
21MP:00053869.8GHR, NF1, IGFBP3, MAPK1, CBL, HRAS
22MP:00053849.7IGF1, NF1, NRAS, SOS1, BRAF, HGF
23MP:00053859.7NRAS, SHOC2, GHR, SOS1, BRAF, HGF
24MP:00053899.6BRAF, GHR, MAP2K1, MAPK1, CBL, KRAS
25MP:00107689.6NF1, NRAS, SHOC2, GHR, SOS1, BRAF
26MP:00053789.4PTPN11, HGF, BRAF, SOS1, GHR, SHOC2

Publications for Noonan Syndrome

Sources:
51PubMed
See all sources

Articles related to Noonan Syndrome:

(show top 50)    (show all 560)
idTitleAuthorsYear
1
Coronary artery ectasia in an adult Noonan syndrome detected on coronary CT angiography. (23608065)
2013
2
Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation. (23877478)
2013
3
Noonan syndrome presenting with neurogenic intermittent claudication. (23807040)
2012
4
Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome. (22605701)
2012
5
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. (22965773)
2012
6
Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. (22786616)
2012
7
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. (21263000)
2011
8
Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications. (22011734)
2011
9
Noonan syndrome with occipito-atlantal dislocation and upper cervical cord compression due to C1 dysplasia and basilar invagination. (21701115)
2011
10
Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study. (21551165)
2011
11
Survival implications: hypertrophic cardiomyopathy in Noonan syndrome. (21269411)
2011
12
Multiple granular cell tumors in a child with Noonan syndrome. (20537083)
2010
13
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. (20882035)
2010
14
Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. (20305546)
2010
15
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. (19845691)
2009
16
GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism. (19282110)
2009
17
Noonan's syndrome and growth hormone treatment]. (18954855)
2008
18
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. (19017799)
2008
19
Orofacial aspects in Noonan syndrome: 2 case report. (18505655)
2008
20
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. (18378677)
2008
21
Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization. (18203203)
2008
22
Noonan syndrome: psychological and psychiatric aspects. (18080322)
2008
23
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. (18925667)
2008
24
Prevalence of migraine in Noonan syndrome. (17376109)
2007
25
Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation. (16078230)
2007
26
Pediatric topic: expanding the spectrum of Noonan syndrome. (18174699)
2007
27
Novel mitochondrial DNA mutations implicated in Noonan syndrome. (17092585)
2007
28
Epidural labour analgesia in a parturient with Noonan syndrome: a case report. (16527793)
2006
29
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. (17103458)
2006
30
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography. (16566035)
2006
31
Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with noonan syndrome. (16088418)
2005
32
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (16208280)
2005
33
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. (15604238)
2004
34
Neuropsychological developmental change in a case with Noonan syndrome: longitudinal assessment. (12767464)
2003
35
Oral findings in Noonan syndrome: report of a case. (12930136)
2003
36
Cardiopulmonary rehabilitation in a patient with Noonan syndrome. (10668781)
2000
37
Noonan syndrome: a cryptic condition in early gestation. (10817648)
2000
38
Acute rheumatic fever in Noonan syndrome. (10985006)
2000
39
Neurofibromatosis-Noonan syndrome. (9475594)
1998
40
Progressive hydrocephalus in Noonan syndrome. (9354850)
1997
41
Multiple-marker screen positive results in Noonan syndrome. (8650132)
1996
42
Noonan syndrome: coagulation and clinical aspects. (8922080)
1996
43
Clinical and molecular studies in a large Dutch family with Noonan syndrome. (7856646)
1994
44
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. (8317503)
1993
45
Myocardial disarray in Noonan syndrome. (1467053)
1992
46
Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. (1877625)
1991
47
Noonan syndrome: partial factor XI deficiency. (3354599)
1988
48
Vertical transmission of the neurofibromatosis/Noonan syndrome. (3105315)
1987
49
Short-rib polydactyly syndrome type 1 (Saldino-Noonan). (3692589)
1987
50
Testicular lymphangiectasis in Noonan's syndrome. (6708197)
1984

Genetic Variations for Noonan Syndrome

Expression for genes affiliated with Noonan Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG, 4Cell Signaling Technology, 52QIAGEN, 53R&D Systems, 50PharmGKB
See all sources

Pathways related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 205)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1PTPN11, HRAS, CBL, MAP2K1, SOS1
2
Hide members
10.0SOS1, BRAF, NRAS, MAP2K1, CBL, MAPK1
310.0MAP2K2, SOS1, MAP2K1, MAPK1, RAF1, PTPN11
4
Immune response IL-6 signaling pathway
Hide members
10.0HRAS, MAPK1, SOS1, MAP2K2, MAP2K1, PTPN11
5
Hide members
10.0SOS1, BRAF, NF1, MAP2K2, MAP2K1, RAF1
69.9BRAF, NRAS, KRAS, HRAS, MAPK1, MAP2K1
79.9MAP2K2, SOS1, PTPN11, KRAS, RAF1, MAPK1
8
Development EPO-induced Jak-STAT pathway
Hide members
9.9PTPN11, RAF1, HRAS, CBL, MAPK1, MAP2K1
9
Hide members
9.9PTPN11, RAF1, HRAS, CBL, MAPK1, MAP2K1
10
Hide members
9.9MAPK1, HRAS, SOS1, MAP2K2, PTPN11, RAF1
11
Hide members
9.9HRAS, MAPK1, MAP2K1, MAP2K2, NRAS, SOS1
129.9KRAS, HRAS, MAPK1, MAP2K1, MAP2K2, NRAS
13
Hide members
9.9SOS1, RAF1, BRAF, MAPK1, HRAS, MAP2K1
14
Hide members
9.9MAP2K1, BRAF, SOS1, NRAS, MAP2K2, HRAS
15
Hide members
9.9KRAS, RAF1, HRAS, MAPK1, MAP2K1, MAP2K2
169.8HRAS, IGF1, MAP2K1, IGFBP3, SOS1, RAF1
17
Development FGF-family signaling
Hide members
9.8PTPN11, RAF1, HRAS, CBL, MAPK1, MAP2K1
189.8MAP2K1, MAP2K2, NRAS, SOS1, BRAF, MAPK1
19
Hide members
9.8MAP2K1, MAP2K2, NRAS, SOS1, MAPK1, CBL
20
Hide members
9.8CBL, MAPK1, BRAF, MAP2K2, NRAS, SOS1
21
Hide members
9.8KRAS, RAF1, HRAS, MAPK1, MAP2K1, MAP2K2
22
Hide members
9.8BRAF, SOS1, NRAS, KRAS, HRAS, RAF1
23
Development Dopamine D2 receptor transactivation of EGFR
Hide members
9.8IGF1, CBL, RAF1, SOS1, PTPN11, MAP2K2
249.8KRAS, RAF1, HRAS, MAPK1, MAP2K1, MAP2K2
25
Development Prolactin receptor signaling
Hide members
9.7PTPN11, KRAS, RAF1, HRAS, CBL, MAPK1
26
Hide members
9.7HRAS, CBL, MAPK1, MAP2K1, MAP2K2, NRAS
27
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.7BRAF, KRAS, MAP2K1, RAF1, PTPN11, MAP2K2
28
Hide members
9.7PTPN11, KRAS, RAF1, HRAS, CBL, MAPK1
29
Hide members
9.7HRAS, CBL, MAPK1, MAP2K1, MAP2K2, NRAS
30
Hide members
9.7BRAF, SOS1, NRAS, MAP2K2, MAP2K1, MAPK1
31
Hide members
9.7BRAF, PTPN11, KRAS, RAF1, HRAS, MAPK1
32
Hide members
9.7SOS1, NRAS, PTPN11, KRAS, RAF1, HRAS
33
Hide members
9.7NRAS, SOS1, IGF1, MAP2K2, MAP2K1, KRAS
349.7NF1, SOS1, BRAF, IGF1, RAF1, HRAS
35
Hide members
9.7NRAS, IGF1, BRAF, HGF, SOS1, RAF1
36
Hide members
9.7PTPN11, KRAS, RAF1, HRAS, CBL, MAPK1
37
Hide members
9.7HRAS, CBL, MAPK1, SOS1, MAP2K1, MAP2K2
38
Hide members
9.7MAP2K2, PTPN11, BRAF, SOS1, NRAS, MAP2K1
399.7PTPN11, KRAS, RAF1, HRAS, CBL, MAPK1
40
Hide members
9.7HGF, SOS1, NRAS, MAP2K2, PTPN11, KRAS
41
Hide members
9.7MAP2K1, MAP2K2, NRAS, GHR, SOS1, MAPK1
42
Hide members
9.6KRAS, RAF1, HRAS, CBL, MAPK1, MAP2K1
43
Hide members
9.6BRAF, SOS1, NRAS, PTPN7, KRAS, RAF1
44
Hide members
9.6HRAS, CBL, MAPK1, MAP2K1, MAP2K2, IGF1
459.6MAPK1, HRAS, RAF1, KRAS, HGF, MAP2K1
46
Hide members
9.6NRAS, SOS1, BRAF, HGF, MAP2K2, MAP2K1
47
Hide members
9.6PTPN11, KRAS, RAF1, HRAS, CBL, MAPK1
48
Hide members
9.6KRAS, RAF1, HRAS, CBL, MAPK1, MAP2K1
499.5PTPN11, RAF1, HRAS, CBL, MAPK1, MAP2K1
50
Translation Insulin regulation of translation
Hide members
9.3RAF1, HGF, HRAS, CBL, MAPK1, MAP2K1

Compounds for genes affiliated with Noonan Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR, 11DrugBank, 2BitterDB, 24HMDB
See all sources

Compounds related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8NF1
2glutamate4510.8CBL
3pge24510.6HRAS
4gw-50744510.6BRAF, MAPK1, RAF1
5zm 33637245 6011.6RAF1, MAPK1, BRAF
6cycloheximide4510.6HGF, GHR, MAP2K2, RAF1
7pd-1843524510.5MAP2K1, MAPK1, RAF1, KRAS
8manumycin4510.5MAP2K1, MAPK1, HRAS, RAF1
9butyrate4510.4ACP1
10dexamethasone45 50 29 1113.4HGF, MAP2K1, MAPK1, RAF1, ACP1
11geldanamycin45 50 60 1113.4HGF, BRAF, MAPK1, CBL, RAF1
12ag 14784510.3HGF, IGF1, MAP2K1, MAPK1, CBL, RAF1
13serine4510.3PTPN11, KRAS, HRAS, CBL, MAP2K1, MAP2K2
14agar4510.3HGF, BRAF, NRAS, MAP2K1, HRAS, RAF1
15lactacystin4510.3CBL, MAPK1, GHR, HGF, RAF1
16herbimycin a45 6011.3HGF, MAP2K1, MAPK1, HRAS, RAF1, ACP1
17imatinib45 50 1112.3HGF, BRAF, MAP2K1, MAPK1, CBL, RAF1
18gnrh4510.3GHR, IGFBP3, IGF1, MAP2K1, MAPK1, RAF1
1912-o-tetradecanoylphorbol 13-acetate4510.2HGF, BRAF, MAP2K1, MAPK1, HRAS, RAF1
20suramin45 29 1112.2HGF, IGF1, MAPK1, RAF1, ACP1
21phosphotyrosine4510.2GHR, MAP2K1, MAPK1, CBL, HRAS, RAF1
22cysteine4510.2NF1, MAP2K1, CBL, HRAS, RAF1, ACP1
23paclitaxel45 50 1112.2HGF, BRAF, IGFBP3, MAP2K1, MAPK1, HRAS
24sb 20358045 6011.2HGF, BRAF, IGF1, MAP2K1, MAPK1, RAF1
25phorbol4510.2GHR, MAP2K1, MAPK1, RAF1, ACP1
26pd 98,0594510.2HGF, BRAF, IGF1, MAP2K2, MAP2K1, MAPK1
27gf 109203x45 6011.2GHR, MAP2K1, MAPK1, HRAS, RAF1
28genistein45 29 60 2 11 2415.2HGF, IGF1, MAP2K1, MAPK1, HRAS, RAF1
29etoposide45 50 60 1113.2HGF, IGFBP3, IGF1, MAP2K1, ACP1, PTPN11
30sodium orthovanadate45 6011.1MAPK1, RAF1, ACP1, PTPN11
31oligonucleotide4510.1BRAF, GHR, NRAS, NF1, HRAS, RAF1
32glutamine4510.1HGF, GHR, IGFBP3, IGF1, HRAS, RAF1
33h2o24510.1HGF, MAP2K1, MAPK1, CBL, HRAS, RAF1
34thymidine45 2411.1HGF, GHR, IGFBP3, IGF1, MAP2K1, MAPK1
35threonine4510.1BRAF, MAP2K2, MAP2K1, MAPK1, CBL, HRAS
36cisplatin45 50 60 1113.1HGF, BRAF, IGFBP3, MAP2K1, MAPK1, HRAS
37alanine4510.1HGF, BRAF, GHR, NF1, IGFBP3, MAP2K1
38phosphoinositide4510.0HGF, BRAF, MAP2K2, MAP2K1, MAPK1, CBL
39rapamycin4510.0BRAF, NF1, IGF1, MAP2K1, MAPK1, CBL
40arginine4510.0HGF, BRAF, GHR, NF1, IGFBP3, IGF1
41ly2940024510.0ACP1, PTPN11, KRAS, RAF1, HRAS, HGF
42aspartate4510.0HGF, BRAF, GHR, IGFBP3, HRAS, RAF1
43vegf4510.0HGF, BRAF, IGFBP3, IGF1, MAP2K1, MAPK1
44wortmannin4510.0HGF, BRAF, IGF1, MAP2K2, MAP2K1, MAPK1
45cytochalasin d45 6010.9NF1, IGF1, MAPK1, RAF1, ACP1
46progesterone45 60 29 11 2413.9GHR, NF1, IGFBP3, IGF1, MAP2K1, HRAS
47retinoic acid45 2410.8IGFBP3, NF1, GHR, BRAF, HGF, IGF1
48phosphatidylinositol459.7HGF, BRAF, SOS1, GHR, NF1, IGF1
49cyclic amp45 2410.6BRAF, GHR, NF1, MAP2K1, HRAS, RAF1
50tyrosine459.5PTPN11, HGF, BRAF, SOS1, GHR, NRAS

GO Terms for genes affiliated with Noonan Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1dendrite cytoplasmGO:03283910.3MAPK1, MAP2K1
2insulin-like growth factor binding protein complexGO:01694210.3IGFBP3, IGF1
3internal side of plasma membraneGO:00989810.3MAP2K2, ACP1, PTPN7
4late endosomeGO:00577010.1MAP2K2, MAP2K1, MAPK1
5cytosolGO:0058299.9PTPN11, BRAF, SOS1, MAP2K2, MAP2K1, MAPK1
6nucleusGO:0056349.5IGFBP3, NF1, SHOC2, GHR, BRAF, MAP2K2
7plasma membraneGO:0058869.4BRAF, SOS1, GHR, NRAS, IGF1, MAP2K1

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

(show top 50)    (show all 54)
idNameGO IDScoreTop Affiliating Genes
1ERBB signaling pathwayGO:03812710.7MAPK1, PTPN11
2positive regulation of Rac protein signal transductionGO:03502210.7NRAS, HRAS, KRAS
3regulation of early endosome to late endosome transportGO:200064110.6MAP2K2, MAP2K1, MAPK1
4myoblast proliferationGO:05145010.6HGF, IGF1
5striated muscle cell differentiationGO:05114610.6KRAS, HRAS, NRAS
6regulation of Golgi inheritanceGO:09017010.6MAP2K2, MAP2K1, MAPK1
7response to epidermal growth factor stimulusGO:07084910.6MAPK1, BRAF
8regulation of stress-activated MAPK cascadeGO:03287210.6MAPK1, MAP2K1, MAP2K2
9regulation of synaptic transmission, GABAergicGO:03222810.6NRAS, NF1, HRAS, KRAS
10positive regulation of Ras protein signal transductionGO:04657910.6SHOC2, IGF1, MAP2K1
11regulation of multicellular organism growthGO:04001410.6GHR, IGF1, PTPN11
12regulation of long-term neuronal synaptic plasticityGO:04816910.6NRAS, NF1, HRAS, KRAS
13visual learningGO:00854210.6NRAS, NF1, HRAS, KRAS
14positive regulation of phosphatidylinositol 3-kinase cascadeGO:01406810.6CBL, IGF1, HGF
15actin cytoskeleton organizationGO:03003610.5NRAS, NF1, HRAS, KRAS
16stress-activated MAPK cascadeGO:05140310.5MAP2K2, MAP2K1, MAPK1
17leukocyte migrationGO:05090010.5SOS1, NRAS, HRAS, KRAS, PTPN11
18response to glucocorticoid stimulusGO:05138410.5GHR, MAP2K1, KRAS
19toll-like receptor 10 signaling pathwayGO:03416610.5MAP2K2, MAP2K1, MAPK1
20positive regulation of cell migrationGO:03033510.5HRAS, MAPK1, MAP2K1, HGF
21positive regulation of MAPK cascadeGO:04341010.5HRAS, IGF1, IGFBP3
22toll-like receptor 5 signaling pathwayGO:03414610.5MAP2K2, MAP2K1, MAPK1
23toll-like receptor TLR6:TLR2 signaling pathwayGO:03812410.5MAP2K2, MAP2K1, MAPK1
24platelet activationGO:03016810.4RAF1, MAPK1, IGF1, SOS1, HGF
25positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.4HGF, GHR, IGF1
26toll-like receptor TLR1:TLR2 signaling pathwayGO:03812310.4MAP2K2, MAP2K1, MAPK1
27negative regulation of cell proliferationGO:00828510.4RAF1, HRAS, MAP2K1, IGF1, IGFBP3
28toll-like receptor 9 signaling pathwayGO:03416210.4MAP2K2, MAP2K1, MAPK1
29activation of MAPK activityGO:00018710.4HGF, GHR, MAP2K2, MAP2K1, MAPK1, PTPN11
30synaptic transmissionGO:00726810.4BRAF, MAPK1, HRAS, RAF1, ACP1
31toll-like receptor 2 signaling pathwayGO:03413410.4MAPK1, MAP2K1, MAP2K2
32positive regulation of cell proliferationGO:00828410.4NRAS, IGF1, MAPK1, HRAS, KRAS
33TRIF-dependent toll-like receptor signaling pathwayGO:03566610.3MAP2K2, MAP2K1, MAPK1
34activation of MAPKK activityGO:00018610.3BRAF, NRAS, MAP2K2, MAP2K1, MAPK1, HRAS
35MAPK cascadeGO:00016510.3HRAS, RAF1, KRAS, MAPK1, MAP2K1, NRAS
36MyD88-independent toll-like receptor signaling pathwayGO:00275610.3MAPK1, MAP2K1, MAP2K2
37insulin receptor signaling pathwayGO:00828610.3SOS1, NRAS, MAP2K2, MAP2K1, MAPK1, HRAS
38Fc-epsilon receptor signaling pathwayGO:03809510.3SOS1, NRAS, MAP2K2, MAP2K1, MAPK1, HRAS
39axon guidanceGO:00741110.2SOS1, NRAS, MAP2K2, MAP2K1, MAPK1, HRAS
40innate immune responseGO:04508710.2SOS1, NRAS, MAP2K2, MAP2K1, MAPK1, HRAS
41small GTPase mediated signal transductionGO:00726410.2BRAF, SOS1, NRAS, MAP2K2, MAP2K1, MAPK1
42toll-like receptor 3 signaling pathwayGO:03413810.2MAP2K2, MAP2K1, MAPK1
43organ morphogenesisGO:00988710.2HRAS, MAPK1, BRAF
44blood coagulationGO:00759610.2HGF, SOS1, NRAS, IGF1, MAPK1, HRAS
45epidermal growth factor receptor signaling pathwayGO:00717310.2SOS1, NRAS, MAP2K2, MAP2K1, MAPK1, CBL
46neurotrophin TRK receptor signaling pathwayGO:04801110.2BRAF, SOS1, NRAS, MAP2K2, MAP2K1, MAPK1
47MyD88-dependent toll-like receptor signaling pathwayGO:00275510.1MAP2K2, MAP2K1, MAPK1
48Ras protein signal transductionGO:00726510.1KRAS, SOS1, SHOC2, NRAS, NF1, IGF1
49fibroblast growth factor receptor signaling pathwayGO:00854310.0SHOC2, NRAS, MAP2K2, MAP2K1, MAPK1, CBL
50signal transductionGO:0071659.7SOS1, IGF1, MAP2K1, MAPK1, HRAS, RAF1

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

idNameGO IDScoreTop Affiliating Genes
1Ras GTPase bindingGO:01701610.3RAF1, MAP2K1
2non-membrane spanning protein tyrosine phosphatase activityGO:00472610.3PTPN11, ACP1
3protein serine/threonine kinase activator activityGO:04353910.2MAP2K2, MAP2K1
4protein serine/threonine kinase activityGO:00467410.2BRAF, MAP2K2, MAP2K1, MAPK1, RAF1
5phosphotyrosine bindingGO:00178410.0CBL, MAPK1
6protein bindingGO:0055159.3PTPN11, HGF, BRAF, SOS1, GHR, NF1

Products for genes affiliated with Noonan Syndrome

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Sources for Noonan Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet