BDLS
MCID: CST001
MIFTS: 71

Costello Syndrome (BDLS) malady

Neuronal, Skin, Fetal, Cancer categories

Summaries for Costello Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 noonan syndrome and mental retardation, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, low set ears/posteriorly rotated ears and short neck. 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 skin, tongue and spinal cord, 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:64 Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder... more...

Description from OMIM:47 218040

GeneReviews summary for costello

Aliases & Classifications for Costello Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
costello syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

costello syndrome 8 19 43 20 22 21 47 10 49 61
faciocutaneoskeletal syndrome 8 43 21 49
fcs syndrome 8 43 21 49
intellectual deficit - nasal papillomata 49
brachmann-de lange syndrome 19
de lange syndrome 19
cdls 19
bdls 19


External Ids:

Disease Ontology8 DOID:0050469
OMIM47 218040
MeSH35 D056685
MESH via Orphanet36 D056685
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 309776008
UMLS via Orphanet62 C0587248

Related Diseases for Costello Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 178)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome30.5BRAF, SOS1, SHOC2, IGFBP3, IGF1, MAP2K2
2mental retardation30.4BRAF, HRAS, PTPN11, ELN
3dwarfism30.4IL18R1, MAP2K1, IGF1, IGFBP3
4hypertrophic cardiomyopathy30.4PTPN11
5cardiofaciocutaneous syndrome30.2BRAF, MAP2K2, MAP2K1, KRAS
6silver-russell syndrome30.2IGF2
7adenocarcinoma30.2BRAF, PDGFB, MAP2K1, IL18R1, HRAS, KRAS
8neurofibromatosis30.0PTPN11, KRAS, HRAS
9turner syndrome30.0IGFBP3, IGF1
10short stature30.0PTPN11, HRAS, BRAF, SOS1, IGF2, IGFBP3
11cornelia de lange syndrome11.0
12n syndrome10.7
13cornelia de lange syndrome 110.6
14cornelia de lange syndrome 210.4
15cornelia de lange syndrome 510.4
16char syndrome10.4
17congenital diaphragmatic hernia10.4
18smc3-related cornelia de lange syndrome10.4
19cutis laxa10.3
20coats disease10.3
21micro syndrome10.3
22germinoma10.3
23kid syndrome10.3
24nipbl-related cornelia de lange syndrome10.3
25smc1a-related cornelia de lange syndrome10.3
26rad21-related cornelia de lange syndrome10.3
27hdac8-related cornelia de lange syndrome10.3
28cornelia de lange syndrome 410.3
29cornelia de lange syndrome 310.3
30adult syndrome10.3
31growth hormone deficiency10.3
32polyhydramnios10.2
33hypoglycemia10.2
34bladder carcinoma10.2
35rosacea10.1
36aniridia10.1
37leigh disease10.1
38panhypopituitarism10.1
39microcephaly10.1
40meningocele10.1
41barrett's esophagus10.1
42intestinal volvulus10.1
43cleft palate10.1
44ulcerative colitis10.1
45imperforate anus10.1
46down syndrome10.1
47arc syndrome10.1
48aortic disease10.1
49autism spectrum disorder10.1
50thrombocytopenia10.1

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



Diseases related to costello syndrome

Clinical Features for Costello Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

218040

Clinical synopsis from OMIM:

218040

Symptoms:

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

Drugs & Therapeutics for Costello Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Costello Syndrome:

id Genetic test Affiliating Genes
1 Costello Syndrome20 22 HRAS

Anatomical Context for Costello Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Costello Syndrome:

33
Skin, Tongue, Spinal cord, Brain, Heart, Skeletal muscle, T cells, Fetal brain, Pancreatic islet

Animal Models for Costello Syndrome or affiliated genes

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

MGI Mouse Phenotypes related to Costello Syndrome:

37 (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

Sources:
51PubMed
See all sources

Articles related to Costello Syndrome:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
2
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
3
Two new cases with Costello syndrome. (24021445)
2013
4
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome. (23335589)
2013
5
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
6
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history. (22528320)
2012
7
Normative growth charts for individuals with Costello syndrome. (22887473)
2012
8
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. (21834037)
2011
9
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome. (21850009)
2011
10
Costello syndrome community mourns New Zealand pediatrician. (21506258)
2011
11
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation). (21633259)
2011
12
Enhanced human brain associative plasticity in Costello syndrome. (20660566)
2010
13
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. (19382114)
2009
14
Anesthetic management of a child with Costello syndrome complicated by congenital absence of the portal vein--a case report. (19638128)
2009
15
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. (18386799)
2008
16
Mutation and phenotypic spectrum in patients with cardio-facio- cutaneous and Costello syndrome. (18042262)
2008
17
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. (18412122)
2008
18
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. (17704260)
2007
19
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. (17366577)
2007
20
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. (17054105)
2007
21
Obstructive sleep apnea in Costello syndrome. (16419102)
2006
22
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. (16443854)
2006
23
Paternal bias in parental origin of HRAS mutations in Costello syndrome. (16835863)
2006
24
Costello syndrome and hyperinsulinemic hypoglycemia. (16278907)
2005
25
Costello syndrome showing moyamoya-like vasculopathy. (15866441)
2005
26
Germline mutations in HRAS proto-oncogene cause Costello syndrome. (16170316)
2005
27
Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations. (15316966)
2004
28
Growth hormone deficiency in Costello syndrome. (15316968)
2004
29
Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients. (14695326)
2004
30
What syndrome is this? Costello syndrome. (14521568)
2003
31
Costello syndrome and Chiari I malformation: apropos of a case with a review of the literature regarding a potential association. (12940656)
2003
32
A case of Costello syndrome and glycogen storage disease type III. (11836377)
2002
33
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. (11857556)
2002
34
Costello syndrome: report of a new case with choanal atresia and fatal outcome. (11525956)
2001
35
Picture of the month. Costello syndrome. (10850515)
2000
36
Second case of bladder carcinoma in a patient with Costello syndrome. (10678668)
2000
37
Costello syndrome and rhabdomyosarcoma. (10424828)
1999
38
Hypercalciuria and urolithiasis in a case of Costello syndrome. (10100291)
1999
39
Costello syndrome in two Brazilian children. (9475096)
1998
40
Life-threatening cardiac involvement throughout life in a case of Costello syndrome. (9001809)
1996
41
Elastic fiber degeneration in Costello syndrome. (8834040)
1996
42
Costello syndrome: update on the original cases and commentary. (8882404)
1996
43
Genetics of the Costello syndrome. (7528974)
1994
44
Costello syndrome: natural history and differential diagnosis of cutis laxa. (7520945)
1994
45
What syndrome is this? Costello syndrome. (7971567)
1994
46
The Costello syndrome: report of a case and review of the literature. (7514457)
1993
47
The Costello syndrome: a boy with thick mitral valves and arrhythmias. (7505126)
1993
48
Costello syndrome and facio-cutaneous-skeletal syndrome. (8213902)
1993
49
Not a new MCA/MR syndrome but probably Costello syndrome? (8213900)
1993
50
Costello syndrome. (1951465)
1991

Genetic Variations for Costello Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Costello Syndrome:

63 (show all 16)
id Symbol AA change Variation 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

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

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

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
Hide members
8.4IGF1, HRAS, BRAF, SOS1, IGF2, MAP2K1
41
Hide members
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

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

Compounds related to Costello Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7ELN
2glutamate4510.5MB
3pge24510.2HRAS, MB
4cycloheximide4510.2ELN, MAP2K2, PDGFB
5dexamethasone45 50 29 1113.0PDGFB, IGF2, MAP2K1
6keratan sulfate459.9ELN, VCAN, GLB1
7gp 130459.7MAP2K1, IL18R1, HRAS, PTPN11
82,4-dinitrophenol459.6IGF2, IGF1, ELN
9ethylenediaminetetraacetate459.6IGF2, IGFBP3
10heparin45 29 11 2412.5ELN, VCAN, IL18R1, MB
11polyethylene glycol459.5MB, IGF2, IL18R1, ELN
12alginate459.5MB, IGF1, VCAN, ELN
13megestrol acetate459.4IGF2, IGFBP3, IGF1
14iplex459.4IGFBP3, IGF1
15dermatan45 2410.4CHST11, VCAN, ELN
16pegvisomant45 1110.4IGF1, IGFBP3, IGF2
17pyridinoline459.4ELN, IGF1, IGFBP3
18imatinib45 50 1111.3BRAF, PDGFB, IGF2, MAP2K1, KRAS, PTPN11
19phosphotyrosine459.3PDGFB, IGF2, MAP2K1, IL18R1, HRAS, PTPN11
20phosphoinositide459.3BRAF, MAP2K2, MAP2K1, IL18R1, HRAS, KRAS
21pd 98,059459.2BRAF, PDGFB, IGF1, MAP2K2, MAP2K1, HRAS
22chondroitin sulfate45 2410.2ELN, VCAN, GLB1, CHST11
23agar459.1BRAF, PDGFB, IGF2, MAP2K1, HRAS, PTPN11
24paclitaxel45 50 1111.1BRAF, IGF2, IGFBP3, MAP2K1, HRAS, KRAS
25wortmannin459.0BRAF, IGF1, MAP2K2, MAP2K1, HRAS, KRAS
26tgf beta1459.0PDGFB, IGF2, IGFBP3, MAP2K1, VCAN, ELN
27paraffin459.0BRAF, PDGFB, MB, IGF2, HRAS, KRAS
28h2o2459.0MB, IGF2, MAP2K1, HRAS, KRAS, PTPN11
29aprotinin45 119.9MB, IGF2, IGFBP3, IGF1, MAP2K1
30hyaluronic acid45 249.9MB, MFAP2, IGFBP3, VCAN, ELN
31valine458.8BRAF, MB, IGF2, IGFBP3, HRAS, KRAS
32etoposide45 50 60 1111.8IGF2, IGFBP3, IGF1, MAP2K1, PTPN11
33oligonucleotide458.8BRAF, PDGFB, IGF2, IL18R1, HRAS, KRAS
34vitamin d458.7ELN, KRAS, IGF1, IGFBP3, IGF2
35glutamine458.6MB, IGF2, IGFBP3, IGF1, IL18R1, HRAS
36cysteine458.5MB, IGF2, IGFBP3, MAP2K1, IL18R1, HRAS
37alanine458.4BRAF, MB, IGF2, IGFBP3, MAP2K1, IL18R1
38rapamycin458.4BRAF, IGF2, IGF1, MAP2K1, IL18R1, HRAS
39cisplatin45 50 60 1111.3BRAF, MB, IGF2, IGFBP3, MAP2K1, IL18R1
40progesterone45 60 29 11 2412.3BRAF, PDGFB, IGF2, IGFBP3, IGF1, MAP2K1
41glucose458.2BRAF, IGF2, IGFBP3, IGF1, MAP2K1, IL18R1
42thymidine45 249.2PDGFB, IGF2, IGFBP3, IGF1, MAP2K1, GLB1
43ly294002458.1BRAF, IGF2, IGFBP3, IGF1, MAP2K1, IL18R1
44retinoic acid45 249.1BRAF, IGF2, IGFBP3, IGF1, MAP2K1, IL18R1
45polysaccharide458.1CHST11, IGFBP3, IL18R1, VCAN, ELN
46phosphatidylinositol458.1IGF1, IGF2, SOS1, BRAF, MAP2K2, MAP2K1
47arginine457.8BRAF, MB, IGF2, IGFBP3, IGF1, MAP2K1
48tyrosine457.2BRAF, SOS1, PDGFB, MFAP2, IGF2, IGF1
49serine456.9IGFBP3, IGF2, MB, PDGFB, SOS1, BRAF
50vegf456.8ELN, BRAF, PDGFB, MB, FBLN5, IGF2

GO Terms for genes affiliated with Costello Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Costello 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