MCID: NNN003
MIFTS: 77

Noonan Syndrome malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Noonan Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 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 and myopathy. 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 heart, lung and bone, 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:42 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:63 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both... more...

Description from OMIM:46 613224, 163950, 609942, 611553, 610733 613706 more

GeneReviews summary for noonan

Aliases & Classifications for Noonan Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 46OMIM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

noonan syndrome 8 63 19 42 20 22 21 10 44 60
cardiomyopathy 63 20 22 44 33
turner's phenotype, karyotype normal 8 63 21
pseudo-ullrich-turner syndrome 63 42 21
female pseudo-turner syndrome 63 42 21
ullrich-noonan syndrome 63 42 21
male turner syndrome 63 42 21
turner syndrome in female with x chromosome 63 21
familial turner syndrome 63 21
noonan-ehmke syndrome 42 21
turner-like syndrome 63 21
cardiomyopathies 60


Related Diseases for Noonan Syndrome

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17GeneCards, 18GeneDecks
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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 893)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis31.0GHR, NF1, HRAS, RAF1, KRAS, PTPN11
2myopathy30.9IGF1
3hypertrophic cardiomyopathy30.9PTPN11
4leukemia30.8GHR, NRAS, NF1, MAP2K1, MAPK1, CBL
5hypertension30.8IGF1
6juvenile myelomonocytic leukemia30.7PTPN11, NF1
7noonan syndrome 530.6RAF1
8neurofibromatosis-noonan syndrome30.6NF1, PTPN11
9acute leukemia30.6NF1, CBL, HRAS, KRAS, ACP1, PTPN11
10leopard syndrome30.5PTPN11, ACP1, RAF1, HRAS, SHOC2, SOS1
11pheochromocytoma30.5NF1, MAPK1, RAF1, ACP1
12rhabdomyosarcoma30.4MAP2K1, PTPN11
13obesity30.3GHR, IGFBP3, IGF1, ACP1, PTPN11
14cardiofaciocutaneous syndrome30.3BRAF, MAP2K2, MAP2K1, KRAS
15costello syndrome30.3PTPN11, KRAS, HRAS, MAP2K1, MAP2K2, SHOC2
16turner syndrome30.2IGF1, IGFBP3, GHR
17hepatitis30.2HGF, SOS1, GHR, RAF1, KRAS
18diabetes mellitus30.2PTPN11, ACP1, IGF1, IGFBP3, GHR
19congenital heart defect30.1BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1
20myeloid leukemia30.1PTPN11, ACP1, RAF1, HRAS, CBL, MAPK1
21hypothyroidism30.1IGF1, IGFBP3, GHR
22hepatitis c30.0PTPN11, KRAS, RAF1, SOS1
23multiple myeloma29.9IGF1, HRAS
24hyperinsulinism29.9IGF1, IGFBP3, GHR
25acromegaly29.9IGF1, IGFBP3
26hypopituitarism29.9GHR, IGFBP3, IGF1
27hypoglycemia29.9GHR, IGFBP3, IGF1
28sarcoma29.9BRAF, NRAS, NF1, HRAS, RAF1, KRAS
29myeloma29.9HGF, IGF1, MAP2K1, MAPK1, HRAS, ACP1
30endometriosis29.9HGF
31hemangioma29.9NF1
32astrocytoma29.9MAPK1, NF1, GHR, ACP1, HRAS
33dwarfism29.9MAP2K1, IGF1, IGFBP3, GHR
34anorexia nervosa29.9IGF1, IGFBP3, GHR
35pulmonary valve stenosis29.8PTPN11, SOS1
36hyperglycemia29.8GHR, IGFBP3, IGF1, ACP1
37liver cirrhosis29.8RAF1, HRAS, IGFBP3, HGF
38adenocarcinoma29.8HGF, BRAF, GHR, MAP2K1, MAPK1, HRAS
39arthritis29.7PTPN11
40influenza29.7NF1, HRAS, PTPN11
41type 2 diabetes mellitus29.7IGFBP3, IGF1, HRAS, ACP1
42tuberous sclerosis29.5MAPK1, NF1
43insulinoma29.5GHR
44polycystic kidney disease29.5MAPK1, BRAF, HGF
45breast cancer29.5ACP1, KRAS, HRAS, GHR
46lung cancer29.5HGF, MAPK1, HRAS, RAF1, KRAS
47lung adenocarcinoma29.5KRAS, RAF1, HRAS, MAPK1, BRAF, HGF
48ovarian cancer29.5BRAF, MAP2K1, MAPK1, RAF1, KRAS
49burkitt's lymphoma29.5NF1, CBL, HRAS, RAF1, KRAS, ACP1
50colorectal cancer29.5BRAF, NF1, MAPK1, HRAS, RAF1, KRAS

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



Diseases related to noonan syndrome

Clinical Features for Noonan Syndrome

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46OMIM
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Clinical features from OMIM:

613224,163950,609942,611553,610733,613706

Drugs & Therapeutics for Noonan Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Noonan Syndrome:

32
Heart, Lung, Bone, Brain, Testes, Myeloid, Kidney, Small intestine, Breast, Cortex

Animal Models for Noonan Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Noonan Syndrome:

36 (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

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50PubMed
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Articles related to Noonan Syndrome:

(show top 50)    (show all 540)
idTitleAuthorsYear
1
Concurrence of anorexia nervosa and noonan syndrome. (24089313)
2014
2
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. (24225993)
2014
3
MAPK activation in mature cataract associated with Noonan syndrome. (24219368)
2013
4
Conservative management of severe open bite and feeding difficulties in patient with noonan syndrome. (22849635)
2013
5
Noonan syndrome and different morphologic expressions of hypertrophic cardiomyopathy. (22790361)
2013
6
Noonan syndrome. (23312968)
2013
7
Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation. (23877478)
2013
8
Noonan syndrome presenting with neurogenic intermittent claudication. (23807040)
2012
9
Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? (22551697)
2012
10
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. (22821648)
2012
11
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. (22826437)
2012
12
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). (22528600)
2012
13
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. (21263000)
2011
14
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. (21549079)
2011
15
Ectatic coronary arteries in Noonan syndrome. (21720486)
2011
16
Images in haematology. Noonan syndrome associated with bleeding disorders. (20738302)
2010
17
Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. (20110435)
2010
18
Pilocytic astrocytoma in a child with Noonan syndrome. (19621452)
2009
19
Coronary myocardial bridging in Noonan syndrome: definitive diagnosis with high-resolution CT. (19095812)
2009
20
Growth response, near-adult height, and patterns of growth and puberty in patients with noonan syndrome treated with growth hormone. (19401366)
2009
21
Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. (19706403)
2009
22
Visual function in Noonan and LEOPARD syndrome. (19568997)
2008
23
Impaired Sertoli cell function in males diagnosed with Noonan syndrome. (19189703)
2008
24
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. (18456719)
2008
25
Are ECG abnormalities in Noonan syndrome characteristic for the syndrome? (18270737)
2008
26
Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism. (18080325)
2008
27
Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization. (18203203)
2008
28
Noonan syndrome: psychological and psychiatric aspects. (18080322)
2008
29
Prevalence of migraine in Noonan syndrome. (17376109)
2007
30
Expanding the genetic spectrum of Noonan syndrome. (18174700)
2007
31
Epidural labour analgesia in a parturient with Noonan syndrome: a case report. (16527793)
2006
32
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. (16921267)
2006
33
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. (16399795)
2006
34
Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with noonan syndrome. (16088418)
2005
35
The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding. (15857538)
2005
36
Short rib polydactyly syndrome type I (Saldino-Noonan syndrome). (15876604)
2005
37
Psychological profile of children with Noonan syndrome. (15686287)
2005
38
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)
2004
39
Cerebral occlusive artery disease in Noonan syndrome. (12187019)
2002
40
Noonan syndrome: a case with recurrent keloid formation. (11324394)
2001
41
Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult. (11216824)
2001
42
Noonan syndrome: a case report. (11692827)
2001
43
Cardiopulmonary rehabilitation in a patient with Noonan syndrome. (10668781)
2000
44
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. (11185075)
2000
45
Growth hormone therapy in Noonan syndrome. (10064687)
1999
46
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. (10206464)
1999
47
Audiologic manifestations of Noonan syndrome. (9527110)
1998
48
Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. (1877625)
1991
49
The Noonan syndrome/cherubism association. (2740093)
1989
50
Noonan syndrome: partial factor XI deficiency. (3354599)
1988

Genetic Variations for Noonan Syndrome

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Expression for genes affiliated with Noonan Syndrome

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1BioGPS, 15Gene 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:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 4Cell Signaling Technology, 51QIAGEN, 52R&D Systems, 49PharmGKB
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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
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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
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9.8IGF1, CBL, RAF1, SOS1, PTPN11, MAP2K2
249.8KRAS, RAF1, HRAS, MAPK1, MAP2K1, MAP2K2
25
Development Prolactin receptor signaling
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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
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9.3RAF1, HGF, HRAS, CBL, MAPK1, MAP2K1

Compounds for genes affiliated with Noonan Syndrome

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44Novoseek, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB, 24HMDB
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Compounds related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8NF1
2glutamate4410.8CBL
3pge24410.6HRAS
4gw-50744410.6BRAF, MAPK1, RAF1
5zm 33637244 5911.6MAPK1, RAF1, BRAF
6cycloheximide4410.6MAP2K2, GHR, RAF1, HGF
7pd-1843524410.5RAF1, MAPK1, KRAS, MAP2K1
8manumycin4410.5RAF1, HRAS, MAPK1, MAP2K1
9butyrate4410.4ACP1
10dexamethasone44 49 28 1113.4ACP1, HGF, RAF1, MAPK1, MAP2K1
11geldanamycin44 49 59 1113.4MAPK1, CBL, RAF1, BRAF, HGF
12serine4410.3HRAS, CBL, MAP2K1, MAP2K2, SOS1, KRAS
13ag 14784410.3HGF, MAP2K1, IGF1, MAPK1, CBL, RAF1
14agar4410.3BRAF, RAF1, NRAS, HRAS, PTPN11, MAP2K1
15lactacystin4410.3RAF1, HGF, GHR, MAPK1, CBL
16herbimycin a44 5911.3HRAS, ACP1, HGF, RAF1, MAPK1, PTPN11
17imatinib44 49 1112.3CBL, HGF, BRAF, MAP2K1, MAPK1, RAF1
18gnrh4410.3IGF1, MAPK1, MAP2K1, RAF1, IGFBP3, GHR
1912-o-tetradecanoylphorbol 13-acetate4410.2ACP1, HRAS, RAF1, MAPK1, MAP2K1, BRAF
20suramin44 28 1112.2MAPK1, HGF, RAF1, IGF1, ACP1
21phosphotyrosine4410.2PTPN11, ACP1, RAF1, CBL, HRAS, MAP2K1
22cysteine4410.2NF1, MAP2K1, CBL, HRAS, RAF1, ACP1
23paclitaxel44 49 1112.2RAF1, HGF, BRAF, IGFBP3, MAP2K1, KRAS
24sb 20358044 5911.2PTPN11, ACP1, RAF1, MAPK1, MAP2K1, IGF1
25phorbol4410.2RAF1, ACP1, GHR, MAP2K1, MAPK1
26pd 98,0594410.2BRAF, IGF1, HGF, MAP2K2, MAPK1, HRAS
27gf 109203x44 5911.2MAP2K1, GHR, MAPK1, HRAS, RAF1
28genistein44 28 59 2 11 2415.2IGF1, HGF, MAP2K1, ACP1, RAF1, HRAS
29etoposide44 49 59 1113.2PTPN11, HGF, IGFBP3, MAP2K1, ACP1, IGF1
30sodium orthovanadate44 5911.1MAPK1, ACP1, PTPN11, RAF1
31oligonucleotide4410.1NF1, NRAS, GHR, KRAS, PTPN11, BRAF
32glutamine4410.1GHR, IGFBP3, IGF1, ACP1, RAF1, HRAS
33h2o24410.1ACP1, HGF, MAP2K1, MAPK1, RAF1, HRAS
34thymidine44 2411.1PTPN11, RAF1, HRAS, MAPK1, MAP2K1, HGF
35threonine4410.1ACP1, CBL, MAPK1, RAF1, HRAS, BRAF
36cisplatin44 49 59 1113.1HGF, ACP1, KRAS, RAF1, MAPK1, MAP2K1
37alanine4410.1BRAF, ACP1, RAF1, MAP2K1, IGFBP3, NF1
38phosphoinositide4410.0BRAF, PTPN11, ACP1, RAF1, KRAS, HGF
39rapamycin4410.0MAP2K1, MAPK1, KRAS, RAF1, HRAS, CBL
40arginine4410.0IGFBP3, HGF, BRAF, GHR, NF1, IGF1
41ly2940024410.0ACP1, MAP2K1, MAPK1, HRAS, RAF1, KRAS
42aspartate4410.0BRAF, ACP1, HRAS, RAF1, GHR, IGFBP3
43vegf4410.0HRAS, MAPK1, IGF1, IGFBP3, BRAF, HGF
44wortmannin4410.0CBL, MAPK1, MAP2K1, MAP2K2, IGF1, BRAF
45cytochalasin d44 5910.9IGF1, ACP1, RAF1, MAPK1, NF1
46progesterone44 59 28 11 2413.9MAP2K1, IGF1, IGFBP3, NF1, GHR, BRAF
47retinoic acid44 2410.8ACP1, KRAS, RAF1, CBL, MAPK1, MAP2K1
48phosphatidylinositol449.7SOS1, GHR, BRAF, HGF, IGF1, MAP2K2
49cyclic amp44 2410.6PTPN7, RAF1, HRAS, MAP2K1, NF1, GHR
50tyrosine449.5PTPN11, PTPN7, BRAF, ACP1, KRAS, RAF1

GO Terms for genes affiliated with Noonan Syndrome

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet