MCID: CST001
MIFTS: 79

Costello Syndrome malady

Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Costello Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Costello syndrome is characterized by delayed development and intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. heart abnormalities are common, including an unusually fast heartbeat (tachycardia), structural heart defects, and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). beginning in early childhood, people with costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. costello syndrome is caused by mutations in the hras gene. it is considered an autosomal dominant condition, but almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. the signs and symptoms of costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (cfc) syndrome and noonan syndrome. while the three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms, it can be difficult to tell them apart in infancy. last updated: 5/24/2011

MalaCards: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to rhabdomyosarcoma and noonan syndrome, and has symptoms including hyperextensible joints/articular hyperlaxity, intellectual deficit/mental/psychomotor retardation/learning disability and cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy. An important gene associated with Costello Syndrome is HRAS (Harvey rat sarcoma viral oncogene homolog), and among its related pathways are TGF-Beta Pathway and Tie2 Signaling. The compounds estrogen and glutamate have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

Genetics Home Reference:21 Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.

Wikipedia:63 Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder... more...

Description from OMIM:46 218040

GeneReviews summary for costello

Aliases & Classifications for Costello Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
costello syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

costello syndrome 8 19 42 20 22 21 46 10 48 60
faciocutaneoskeletal syndrome 8 42 21 48
fcs syndrome 8 42 21 48
intellectual deficit - nasal papillomata 48


External Ids:

Disease Ontology8 DOID:0050469
OMIM46 218040
MeSH34 D056685
MESH via Orphanet35 D056685
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 309776008
UMLS via Orphanet61 C0587248

Related Diseases for Costello Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Costello Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma30.6PDGFB, MB, IGF2, MAP2K1, PTPN11
2noonan syndrome30.5BRAF, SOS1, SHOC2, IGFBP3, IGF1, MAP2K2
3hypertrophic cardiomyopathy30.3PTPN11
4cardiofaciocutaneous syndrome30.2BRAF, MAP2K2, MAP2K1, KRAS
5hypertension30.2IGF1
6pancreatitis30.0KRAS, HRAS
7papilloma30.0HRAS, MAP2K1
8neurofibromatosis30.0PTPN11, KRAS, HRAS
9turner syndrome30.0IGFBP3, IGF1
10cutis laxa10.3
11adult syndrome10.2
12embryonal rhabdomyosarcoma10.2
13polyhydramnios10.2
14hypoglycemia10.2
15bladder carcinoma10.2
16glycogen storage disease iii10.0
17sialuria10.0
18acoustic neuroma10.0
19hyperinsulinemic hypoglycemia10.0
20verrucous papilloma10.0
21cataract10.0
22choanal atresia10.0
23glycogen storage disease10.0
24keratoconus10.0
25neuroma10.0
26transitional cell carcinoma10.0
27image syndrome10.0
28noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.0
29cutis laxa, ad10.0
30endometriosis10.0ELN
31eye disease10.0GLB1
32oral cancer10.0HRAS
33lichen sclerosus10.0ELN
34testicular cancer10.0KRAS
35mucopolysaccharidosis10.0GLB1
36goiter10.0BRAF
37retinal detachment10.0PDGFB
38fibrosarcoma10.0GLB1, MAP2K1
39granular cell tumor10.0MB
40pulmonary fibrosis10.0ELN, PDGFB
41thyroid cancer10.0BRAF, HRAS
42leiomyoma10.0IGF2
43astrocytoma10.0HRAS, GLB1, PDGFB
44cholangiocarcinoma10.0KRAS, BRAF
45endometrial carcinoma10.0BRAF, KRAS
46silver-russell syndrome10.0IGF2
47hemangiopericytoma10.0IGF2
48spitz nevus10.0BRAF, HRAS
49supravalvular aortic stenosis10.0ELN, FBLN5
50juvenile myelomonocytic leukemia10.0PTPN11, KRAS, HRAS

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



Diseases related to costello syndrome

Clinical Features for Costello Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

218040

Clinical synopsis from OMIM:

218040

Symptoms:

48 (show all 46)
  • hyperextensible joints/articular hyperlaxity
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • cardiomyopathy/hypertrophic/dilated
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • thin/hypoplastic toenails
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • polyhydramnios
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hair and scalp anomalies
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • thick/wide ear lobe
  • low set ears/posteriorly rotated ears
  • coarse face
  • large face
  • warts/papillomas
  • ulnar deviation of fingers
  • abnormal dermatoglyphics
  • pulmonary valve atresia/stenosis/narrowing
  • thin/hypoplastic/hyperconvex fingernails
  • woolly/frizzy hair
  • acanthosis nigricans
  • loose skin/skin relaxation/excess skin/creases
  • tight skin/lack of elasticity
  • anomalies of skin, subcutaneous tissue and mucosae
  • short neck
  • enamel anomaly
  • high vaulted/narrow palate
  • depressed nasal bridge
  • ventricular septal defect/interventricular communication
  • delayed bone age
  • excess nuchal skin without pterygium colli
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • thick lips
  • epicanthic folds
  • strabismus/squint
  • keratoconus/keratoglobus
  • broad cheeks/cherub-like/cherubin face
  • antenatal exposure : alcohol
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Costello Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Costello Syndrome

Drug clinical trials:

Search ClinicalTrials for Costello Syndrome

Search NIH Clinical Center for Costello Syndrome

Search CenterWatch for Costello Syndrome

Genetic Tests for Costello Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Costello Syndrome:

id Genetic test Affiliating Genes
1 Costello Syndrome20 22 HRAS

Anatomical Context for Costello Syndrome

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32MalaCards
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MalaCards organs/tissues related to Costello Syndrome:

32
Heart, Skin, Brain, Testes, Bone, Tongue, Spinal cord, Pancreatic islet

Animal Models for Costello Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Costello Syndrome:

36 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.1PDGFB, GLB1
2MP:00053799.9MAP2K1, HRAS, KRAS, PTPN11
3MP:00053809.8PDGFB, MB, SHOC2
4MP:00053919.7SOS1, PDGFB, MAP2K2, MAP2K1
5MP:00036319.3PDGFB, MAP2K1, GLB1, HRAS, PTPN11, VCAN
6MP:00053899.0BRAF, MAP2K1, GLB1, KRAS, PTPN11
7MP:00053719.0VCAN, PTPN11, CHST11
8MP:00053908.7VCAN, HRAS, GLB1, IGF1, CHST11
9MP:00020068.7BRAF, FBLN5, IGF1, MAP2K2, MAP2K1, HRAS
10MP:00053818.6BRAF, SOS1, IGF2, MAP2K2, MAP2K1, KRAS
11MP:00053708.6BRAF, PDGFB, IGF2, IGFBP3, GLB1, KRAS
12MP:00053888.5MB, SHOC2, IGF2, IGF1, KRAS, PTPN11
13MP:00107718.5SOS1, PDGFB, FBLN5, SHOC2, IGF2, MAP2K2
14MP:00028738.2BRAF, SHOC2, IGF1, MAP2K2, MAP2K1, HRAS
15MP:00053827.9BRAF, SOS1, FBLN5, CHST11, IGF2, MAP2K2
16MP:00053877.8SOS1, PDGFB, IGF2, IGF1, GLB1, IL18R1
17MP:00053697.6BRAF, SOS1, PDGFB, MB, FBLN5, IGF2
18MP:00053847.5BRAF, SOS1, MB, FBLN5, IGF2, IGF1
19MP:00053977.4BRAF, SOS1, PDGFB, MB, MFAP2, IGF2
20MP:00053857.0FBLN5, MB, PDGFB, SOS1, BRAF, SHOC2
21MP:00107686.1CHST11, SHOC2, MB, PDGFB, SOS1, BRAF
22MP:00053785.9CHST11, SHOC2, MB, PDGFB, SOS1, BRAF
23MP:00053765.6ELN, BRAF, SOS1, PDGFB, MB, MFAP2

Publications for Costello Syndrome

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50PubMed
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Articles related to Costello Syndrome:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. (24057668)
2014
2
Decreased bone mineral density in Costello syndrome. (24246682)
2014
3
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory. (23918324)
2013
4
A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways. (23528009)
2013
5
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. (22926243)
2012
6
Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy. (20307337)
2010
7
Costello syndrome and the importance of cancer screening. (20956753)
2010
8
Living with Costello syndrome: quality of life issues in older individuals. (20034064)
2010
9
Germline expression of H-Ras(G12V) causes neurological deficits associated to Costello syndrome. (18823404)
2009
10
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. (19919001)
2009
11
Medical and surgical perspectives of cardiac hypertrophy in Costello syndrome. (19825250)
2009
12
Costello syndrome H-Ras alleles regulate cortical development. (19371735)
2009
13
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. (18642361)
2009
14
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? (18247425)
2008
15
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. (17979197)
2008
16
Costello syndrome: clinical diagnosis in the first year of life. (17726614)
2008
17
Severe neonatal manifestations of Costello syndrome. (18039947)
2008
18
Tropoelastin regulates chemokine expression in fibroblasts in Costello syndrome. (18533107)
2008
19
Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report. (17690078)
2007
20
Longitudinal assessment of cognitive characteristics in Costello syndrome. (17963256)
2007
21
Cutaneous manifestations of Costello syndrome. (17214726)
2007
22
Verrucous papules and plaques in a pediatric patient: cutaneous papillomas associated with Costello syndrome. (17875889)
2007
23
HRAS and the Costello syndrome. (17250658)
2007
24
Somatic mosaicism for an HRAS mutation causes Costello syndrome. (16969868)
2006
25
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. (16329078)
2006
26
Severe scoliosis associated with Costello syndrome: a case report. (17200544)
2006
27
Costello syndrome with pancreatic islet cell hyperplasia. (15384101)
2004
28
Elevated catecholamine metabolites in patients with Costello syndrome. (15211656)
2004
29
Hand it to the skin in Costello syndrome. (14722534)
2004
30
Parameningeal rhabdomyosarcoma in a patient with Costello syndrome. (15167355)
2004
31
Is growth hormone treatment beneficial or harmful in Costello syndrome? (12807973)
2003
32
Anaesthetic implications of Costello syndrome. (12641690)
2003
33
Concerning "Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol". (12698963)
2003
34
Further delineation of the behavioral and neurologic features in Costello syndrome. (12605434)
2003
35
Costello syndrome and neurological abnormalities. (14608654)
2003
36
Osteofibrous dysplasia in a Japanese boy with Costello syndrome. (14564166)
2003
37
Anaesthesiological considerations in Costello syndrome. (11982853)
2002
38
Recurrent transitional cell carcinoma in a child with the Costello syndrome. (12187253)
2002
39
Prenatal findings in a monozygotic twin pregnancy with Costello syndrome. (12001198)
2002
40
Screening for cancer in children with Costello syndrome. (11857557)
2002
41
Further delineation of cardiac abnormalities in Costello syndrome. (12210337)
2002
42
Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts. (11146354)
2000
43
Costello syndrome with decreased glucose tolerance. (10523730)
1999
44
Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review. (10449656)
1999
45
Cardiac disease in Costello syndrome. (9521961)
1998
46
A case of Costello syndrome with endocrine features. (9833070)
1998
47
Costello syndrome. (9365976)
1997
48
Costello syndrome: report of an 8-month-old marasmic boy. (8652085)
1996
49
Hungarian case with Costello syndrome and translocation t(1,22) (7677162)
1995
50
A Japanese patient with the Costello syndrome. (8168845)
1994

Genetic Variations for Costello Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Costello Syndrome:

62 (show all 16)
id Symbol AA change Variation ID SNP ID
1HRASp.Gly12ValVAR_006836
2HRASp.Gly12ValVAR_006836
3HRASp.Gly12SerVAR_006837
4HRASp.Gly12SerVAR_006837
5HRASp.Gly12AlaVAR_026106
6HRASp.Gly13CysVAR_026107
7HRASp.Gly13AspVAR_026108
8HRASp.Gly12CysVAR_045975
9HRASp.Gly12GluVAR_045976
10HRASp.Gln22LysVAR_045977
11HRASp.Thr58IleVAR_045978
12HRASp.Glu63LysVAR_045980
13HRASp.Lys117ArgVAR_045981
14HRASp.Ala146ThrVAR_045982
15HRASp.Ala146ValVAR_045983
16HRASp.Gly12AspVAR_068816

Expression for genes affiliated with Costello Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Costello Syndrome

Search GEO for disease gene expression data for Costello Syndrome.

Pathways for genes affiliated with Costello Syndrome

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51QIAGEN, 53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 49PharmGKB, 4Cell Signaling Technology, 52R&D Systems
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Pathways related to Costello Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6IGF2, IL18R1, PDGFB
29.6HRAS, KRAS, SOS1, PTPN11
39.4MAP2K2, KRAS, BRAF, MAP2K1, HRAS
4
Hide members
9.4BRAF, KRAS, HRAS, MAP2K2, MAP2K1
59.4MAP2K2, SOS1, HRAS, MAP2K1, KRAS
6
Hide members
9.4SOS1, MAP2K1, HRAS, MAP2K2, KRAS
7
Immune response IL-6 signaling pathway
Hide members
9.3MAP2K2, MAP2K1, SOS1, PTPN11, HRAS
89.3SOS1, PTPN11, HRAS, MAP2K2, MAP2K1
9
Hide members
9.3SOS1, MAP2K2, HRAS, MAP2K1, PTPN11
10
Immune response IL-2 activation and signaling pathway
Hide members
9.3MAP2K1, HRAS, MAP2K2, SOS1, PTPN11
11
Development EPO-induced Jak-STAT pathway
Hide members
9.3SOS1, MAP2K1, PTPN11, MAP2K2, HRAS
12
Hide members
9.1MAP2K1, SOS1, MAP2K2, HRAS, KRAS, PTPN11
13
Development Prolactin receptor signaling
Hide members
9.1HRAS, MAP2K2, SOS1, MAP2K1, PTPN11, KRAS
14
Hide members
9.1PTPN11, SOS1, MAP2K2, KRAS, HRAS, MAP2K1
15
Hide members
9.1SOS1, KRAS, HRAS, MAP2K1, MAP2K2, BRAF
16
Hide members
9.1MAP2K1, HRAS, MAP2K2, SOS1, BRAF, KRAS
17
Hide members
9.1SOS1, BRAF, MAP2K2, KRAS, MAP2K1, HRAS
189.1MAP2K1, MAP2K2, BRAF, SOS1, PDGFB, KRAS
199.0PTPN11, KRAS, MAP2K1, MAP2K2, SOS1, BRAF
20
Hide members
8.9MAP2K2, PDGFB, MAP2K1, SOS1, HRAS, KRAS
21
Hide members
8.9PDGFB, MAP2K2, MAP2K1, HRAS, KRAS, PTPN11
22
Hide members
8.9MAP2K1, MAP2K2, KRAS, BRAF, PDGFB, SOS1
23
Hide members
8.9BRAF, SOS1, PDGFB, MAP2K2, HRAS, MAP2K1
248.9KRAS, MAP2K1, MAP2K2, HRAS, BRAF, IGF1
25
Hide members
8.9PDGFB, MAP2K1, HRAS, KRAS, MAP2K2, BRAF
26
Hide members
8.9PTPN11, KRAS, SOS1, MAP2K2, MAP2K1, BRAF
27
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.9MAP2K1, PTPN11, KRAS, MAP2K2, SOS1, HRAS
28
Hide members
8.9MAP2K1, KRAS, PTPN11, MAP2K2, HRAS, SOS1
29
Hide members
8.9KRAS, BRAF, SOS1, MAP2K2, MAP2K1, HRAS
30
Hide members
8.9MAP2K2, PTPN11, KRAS, HRAS, SOS1, MAP2K1
31
Development Dopamine D2 receptor transactivation of EGFR
Hide members
8.8SOS1, MAP2K2, HRAS, IGF1, MAP2K1, PTPN11
328.8SOS1, KRAS, HRAS, PTPN11, SHOC2, MAP2K1
338.6MAP2K2, IGF1, SOS1, PDGFB, KRAS, HRAS
34
Hide members
8.6HRAS, MAP2K1, MAP2K2, PDGFB, BRAF, KRAS
35
Hide members
8.6SOS1, PDGFB, BRAF, MAP2K1, KRAS, PTPN11
36
Hide members
8.6BRAF, IGF1, MAP2K1, HRAS, MAP2K2, SOS1
37
Hide members
8.5PDGFB, MAP2K2, MAP2K1, IGF1, SOS1, BRAF
38
Hide members
8.5HRAS, KRAS, MAP2K1, MAP2K2, IGF1, IGF2
39
Hide members
8.4PDGFB, MAP2K1, SOS1, IGF1, MAP2K2, HRAS
40
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8.4IGF1, HRAS, BRAF, SOS1, IGF2, MAP2K1
41
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8.4BRAF, HRAS, MAP2K1, MAP2K2, SOS1, IGF1
42
Hide members
8.2IGF1, MAP2K2, HRAS, KRAS, PTPN11, MAP2K1
438.2SOS1, IGF2, IGFBP3, IGF1, MAP2K2, MAP2K1
44
Hide members
8.1HRAS, MAP2K2, IGF1, IGF2, PDGFB, MAP2K1
458.1SOS1, HRAS, PDGFB, IGF1, MAP2K2, BRAF
467.9BRAF, SOS1, PTPN11, KRAS, HRAS, MAP2K1
47
Hide members
7.9IGF1, SOS1, PDGFB, IGF2, MAP2K2, MAP2K1
48
Translation Insulin regulation of translation
Hide members
7.9IGF1, SOS1, PTPN11, HRAS, KRAS, BRAF
497.9MAP2K2, PDGFB, CHST11, MAP2K1, GLB1, HRAS
50
Hide members
7.7ELN, PDGFB, HRAS, IL18R1, MAP2K1, MAP2K2

Compounds for genes affiliated with Costello Syndrome

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

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7ELN
2glutamate4410.5MB
3pge24410.2MB, HRAS
4cycloheximide4410.2MAP2K2, PDGFB, ELN
5dexamethasone44 49 28 1113.0IGF2, PDGFB, MAP2K1
6keratan sulfate449.9GLB1, VCAN, ELN
7gp 130449.7MAP2K1, HRAS, PTPN11, IL18R1
82,4-dinitrophenol449.6IGF1, ELN, IGF2
9ethylenediaminetetraacetate449.5IGFBP3, IGF2
10iplex449.5IGFBP3, IGF1
11heparin44 28 11 2412.5ELN, VCAN, MB, IL18R1
12polyethylene glycol449.5MB, IGF2, IL18R1, ELN
13alginate449.5MB, ELN, VCAN, IGF1
14megestrol acetate449.4IGF1, IGF2, IGFBP3
15dermatan44 2410.4VCAN, ELN, CHST11
16pegvisomant44 1110.4IGF1, IGFBP3, IGF2
17pyridinoline449.4ELN, IGFBP3, IGF1
18imatinib44 49 1111.3KRAS, MAP2K1, BRAF, PDGFB, IGF2, PTPN11
19phosphotyrosine449.3PTPN11, HRAS, PDGFB, MAP2K1, IL18R1, IGF2
20phosphoinositide449.3PTPN11, IL18R1, MAP2K1, MAP2K2, BRAF, HRAS
21pd 98,059449.2MAP2K2, IGF1, HRAS, BRAF, MAP2K1, PDGFB
22chondroitin sulfate44 2410.2GLB1, CHST11, ELN, VCAN
23agar449.1BRAF, PDGFB, IGF2, MAP2K1, HRAS, PTPN11
24paclitaxel44 49 1111.1BRAF, IGF2, MAP2K1, HRAS, KRAS, IGFBP3
25wortmannin449.0PTPN11, KRAS, HRAS, MAP2K1, MAP2K2, IGF1
26tgf beta1449.0ELN, VCAN, MAP2K1, IGFBP3, PDGFB, IGF2
27paraffin449.0ELN, KRAS, HRAS, IGF2, MB, PDGFB
28h2o2449.0ELN, PTPN11, MAP2K1, IGF2, HRAS, MB
29aprotinin44 119.9MAP2K1, IGFBP3, IGF2, MB, IGF1
30hyaluronic acid44 249.9VCAN, MFAP2, ELN, MB, IGFBP3
31valine448.8KRAS, ELN, BRAF, IGF2, MB, HRAS
32etoposide44 49 59 1111.8PTPN11, MAP2K1, IGF2, IGF1, IGFBP3
33oligonucleotide448.8VCAN, PTPN11, PDGFB, BRAF, KRAS, IL18R1
34vitamin d448.7IGF2, IGFBP3, IGF1, KRAS, ELN
35glutamine448.6IL18R1, IGF1, IGFBP3, HRAS, IGF2, MB
36cysteine448.5MB, IGF2, IGFBP3, MAP2K1, IL18R1, PTPN11
37alanine448.4IGF2, IGFBP3, MB, PTPN11, ELN, BRAF
38rapamycin448.4BRAF, PTPN11, IGF2, IGF1, MAP2K1, KRAS
39cisplatin44 49 59 1111.3KRAS, HRAS, MAP2K1, IGFBP3, IGF2, MB
40progesterone44 59 28 11 2412.3HRAS, IGF1, MAP2K1, IGFBP3, IGF2, IL18R1
41glucose448.2BRAF, IGF2, IGFBP3, IGF1, IL18R1, HRAS
42thymidine44 249.2PDGFB, PTPN11, IGF1, HRAS, IL18R1, GLB1
43ly294002448.1IGF2, IGFBP3, IGF1, MAP2K1, IL18R1, HRAS
44retinoic acid44 249.1IGFBP3, IGF2, HRAS, BRAF, MAP2K1, IL18R1
45polysaccharide448.1IL18R1, VCAN, ELN, IGFBP3, CHST11
46phosphatidylinositol448.1HRAS, KRAS, IGF2, PTPN11, MAP2K2, IL18R1
47arginine447.8IGF2, IGF1, MB, IGFBP3, MAP2K1, IL18R1
48tyrosine447.2KRAS, HRAS, IL18R1, MAP2K1, MAP2K2, IGF1
49serine446.9IL18R1, BRAF, SOS1, PDGFB, MB, IGF2
50vegf446.8HRAS, ELN, BRAF, PDGFB, MB, FBLN5

GO Terms for genes affiliated with Costello Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Costello Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1elastic fiberGO:07195310.0ELN, FBLN5
2insulin-like growth factor binding protein complexGO:0169429.4IGFBP3, IGF1
3platelet alpha granule lumenGO:0310939.0IGF1, IGF2, PDGFB
4extracellular spaceGO:0056158.3FBLN5, IGF2, IGFBP3, IGF1, VCAN, PDGFB
5extracellular regionGO:0055767.3ELN, PDGFB, MFAP2, FBLN5, IGF2, IGFBP3

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:03502210.4KRAS, HRAS
2regulation of Golgi inheritanceGO:09017010.4MAP2K1, MAP2K2
3regulation of early endosome to late endosome transportGO:200064110.3MAP2K1, MAP2K2
4regulation of synaptic transmission, GABAergicGO:03222810.3HRAS, KRAS
5striated muscle cell differentiationGO:05114610.3HRAS, KRAS
6regulation of stress-activated MAPK cascadeGO:03287210.3MAP2K2, MAP2K1
7positive regulation of protein phosphorylationGO:00193410.2KRAS, HRAS
8positive regulation of MAP kinase activityGO:04340610.2PDGFB, HRAS, KRAS
9MAPK cascadeGO:00016510.1MAP2K2, MAP2K1, HRAS, KRAS
10positive regulation of protein serine/threonine kinase activityGO:07190210.0IGF2, MAP2K2, MAP2K1
11leukocyte migrationGO:0509009.9SOS1, HRAS, KRAS, PTPN11
12positive regulation of DNA replicationGO:0457409.9PDGFB, IGF1, HRAS
13positive regulation of smooth muscle cell migrationGO:0149119.8IGF1, PDGFB
14organ morphogenesisGO:0098879.8BRAF, HRAS, ELN
15activation of MAPKK activityGO:0001869.8BRAF, MAP2K2, MAP2K1, HRAS, KRAS
16positive regulation of ERK1 and ERK2 cascadeGO:0703749.8HRAS, PDGFB, BRAF
17positive regulation of Ras protein signal transductionGO:0465799.7MAP2K1, IGF1, SHOC2
18heart developmentGO:0075079.7PDGFB, MB, PTPN11, VCAN
19positive regulation of mitosisGO:0458409.7IGF1, IGF2, PDGFB
20positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.6IGF1, IGF2, PDGFB
21axon guidanceGO:0074119.5SOS1, MAP2K2, MAP2K1, HRAS, KRAS, PTPN11
22activation of MAPK activityGO:0001879.5PTPN11, MAP2K1, MAP2K2
23small GTPase mediated signal transductionGO:0072649.5BRAF, SOS1, MAP2K2, MAP2K1, HRAS, KRAS
24platelet degranulationGO:0025769.5IGF1, IGF2, PDGFB
25positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.4IGF1, IGFBP3
26Fc-epsilon receptor signaling pathwayGO:0380959.3SOS1, PDGFB, MAP2K2, MAP2K1, HRAS, KRAS
27epidermal growth factor receptor signaling pathwayGO:0071739.3SOS1, PDGFB, MAP2K2, MAP2K1, HRAS, KRAS
28innate immune responseGO:0450879.3SOS1, PDGFB, MAP2K2, MAP2K1, HRAS, KRAS
29platelet activationGO:0301689.3SOS1, PDGFB, IGF2, IGF1
30positive regulation of cell proliferationGO:0082849.2KRAS, HRAS, IGF1, IGF2, PDGFB
31extracellular matrix organizationGO:0301989.2ELN, VCAN, FBLN5, MFAP2, PDGFB
32insulin receptor signaling pathwayGO:0082869.1SOS1, IGF2, MAP2K2, MAP2K1, HRAS, KRAS
33positive regulation of MAPK cascadeGO:0434109.1PDGFB, IGF2, IGFBP3, IGF1, HRAS
34neurotrophin TRK receptor signaling pathwayGO:0480119.0BRAF, SOS1, PDGFB, MAP2K2, MAP2K1, HRAS
35Ras protein signal transductionGO:0072658.9SOS1, SHOC2, IGF1, MAP2K2, MAP2K1, HRAS
36blood coagulationGO:0075968.8SOS1, PDGFB, IGF2, IGF1, HRAS, KRAS
37fibroblast growth factor receptor signaling pathwayGO:0085438.7PTPN11, BRAF, SOS1, PDGFB, SHOC2, MAP2K2

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:0435399.5MAP2K1, MAP2K2, IGF2
2insulin receptor bindingGO:0051589.3PTPN11, IGF1, IGF2
3protein bindingGO:0055156.0IGFBP3, IGF2, FBLN5, PDGFB, SOS1, BRAF

Products for genes affiliated with Costello Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Costello 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