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, 60UMLS, 33MedlinePlus, 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, Myeloid, Testes, Kidney, Breast, Small intestine, 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
Multiple granular cell tumors in a child with Noonan syndrome. (22915371)
2013
2
Noonan syndrome with complete atrioventricular canal defect with pulmonary stenosis. (24055746)
2013
3
Association between Noonan syndrome and Chiari I malformation: a case-based update. (23239255)
2013
4
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study. (24382853)
2013
5
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. (21339642)
2011
6
The benefits of growth hormone therapy in patients with Turner syndrome, Noonan syndrome and children born small for gestational age. (22019012)
2011
7
Bleeding from the small intestine and aortic regurgitation in Noonan syndrome. (22041367)
2011
8
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (19953625)
2010
9
Marathon of eponyms: 14 Noonan syndrome. (20946318)
2010
10
A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma. (20607846)
2010
11
Arrhythmogenic cardiomyopathy in a patient with Noonan syndrome. (20450268)
2010
12
Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling. (20679480)
2010
13
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. (20052757)
2010
14
Noonan syndrome: clinical features, diagnosis, and management guidelines. (20876176)
2010
15
Growth hormone therapy in Noonan syndrome: growth response and characteristics. (20029236)
2009
16
Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome. (19927903)
2009
17
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
18
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. (19845691)
2009
19
Genetic and pathogenetic aspects of Noonan syndrome and related disorders. (20029240)
2009
20
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. (19017799)
2008
21
Clinical and molecular characterization of 40 patients with Noonan syndrome. (18678287)
2008
22
Noonan syndrome. A review. (18487980)
2008
23
The natural history of Noonan syndrome: a long-term follow-up study. (16990350)
2007
24
Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome. (17414570)
2007
25
Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations. (16267621)
2006
26
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (15928039)
2005
27
Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy. (16035579)
2005
28
Noonan syndrome with giant cell lesions. (15790374)
2005
29
Cutis verticis gyrata in a patient with Noonan syndrome. (15804304)
2005
30
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. (16388177)
2005
31
Noonan syndrome and systemic lupus erythematosus: presentation in childhood. (15194952)
2004
32
Ocular manifestations of Noonan syndrome in the pediatric patient. (15226733)
2004
33
PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa. (12872825)
2003
34
Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? (14564218)
2003
35
Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features. (12940461)
2003
36
Transient abnormal myelopoiesis in Noonan syndrome. (12468921)
2002
37
Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. (11167973)
2000
38
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene. (11153911)
2000
39
Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family. (9741475)
1998
40
Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. (8677117)
1996
41
Noonan syndrome with double-chambered right ventricle. (8662049)
1996
42
Growth hormone treatment in Noonan syndrome. (8992871)
1996
43
Noonan syndrome: a clinical description emphasizing the cardiac findings. (8992867)
1996
44
Normal pregnancy in a case of Noonan syndrome with hypertrophic cardiomyopathy. (9282616)
1996
45
Noonan syndrome. (7640194)
1995
46
Noonan syndrome. An update and review for the primary pediatrician. (8001324)
1994
47
Genetic counselling in Noonan syndrome. (8465845)
1993
48
Acute lymphoblastic leukemia in Noonan syndrome: report of two cases. (8515728)
1993
49
Myocardial disarray in Noonan syndrome. (1467053)
1992
50
Pulmonary lymphangiectasis in Noonan syndrome. (6766041)
1980

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

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:03502210.7NRAS, 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

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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