MCID: CST001
MIFTS: 65

Costello Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Costello Syndrome

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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 based summary: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to cardiofaciocutaneous syndrome and noonan syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, depressed nasal bridge and high vaulted/narrow palate. An important gene associated with Costello Syndrome is HRAS (Harvey rat sarcoma viral oncogene homolog), and among its related pathways are Chronic myeloid leukemia and G protein signaling Ras family GTPases in kinase cascades scheme . The compounds trifluoroethanol and vgvapg have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related mouse phenotypes are craniofacial and tumorigenesis.

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:65 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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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Costello Syndrome, Aliases & Descriptions:

Name: Costello Syndrome 8 19 42 20 22 21 46 10 48 62
Faciocutaneoskeletal Syndrome 8 42 21 48 62
 
Fcs Syndrome 8 42 21 48
Intellectual Disability - Nasal Papillomata 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050469
MeSH34 D056685
OMIM46 218040
MESH via Orphanet35 D056685
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0587248

Related Diseases for Costello Syndrome

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



Diseases related to costello syndrome

Symptoms for Costello Syndrome

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Symptoms by clinical synopsis from OMIM:

218040

Clinical features from OMIM:

218040

Symptoms:

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

HPO human phenotypes related to Costello Syndrome:

(show all 111)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 macrocephaly hallmark (90%) HP:0000256
3 short neck hallmark (90%) HP:0000470
4 abnormality of dental enamel hallmark (90%) HP:0000682
5 acanthosis nigricans hallmark (90%) HP:0000956
6 hyperkeratosis hallmark (90%) HP:0000962
7 cutis laxa hallmark (90%) HP:0000973
8 abnormality of the fingernails hallmark (90%) HP:0001231
9 ventricular septal defect hallmark (90%) HP:0001629
10 abnormality of the pulmonary valve hallmark (90%) HP:0001641
11 woolly hair hallmark (90%) HP:0002224
12 delayed skeletal maturation hallmark (90%) HP:0002750
13 short stature hallmark (90%) HP:0004322
14 depressed nasal bridge hallmark (90%) HP:0005280
15 lack of skin elasticity hallmark (90%) HP:0100679
16 cryptorchidism typical (50%) HP:0000028
17 abnormality of the tongue typical (50%) HP:0000157
18 thick lower lip vermilion typical (50%) HP:0000179
19 epicanthus typical (50%) HP:0000286
20 full cheeks typical (50%) HP:0000293
21 thickened nuchal skin fold typical (50%) HP:0000474
22 strabismus typical (50%) HP:0000486
23 joint hypermobility typical (50%) HP:0001382
24 polyhydramnios typical (50%) HP:0001561
25 abnormality of the mitral valve typical (50%) HP:0001633
26 hypertrophic cardiomyopathy typical (50%) HP:0001639
27 hypoplastic toenails typical (50%) HP:0001800
28 cerebral cortical atrophy typical (50%) HP:0002120
29 abnormal dermatoglyphics typical (50%) HP:0007477
30 ulnar deviation of finger typical (50%) HP:0009465
31 abnormal tendon morphology typical (50%) HP:0100261
32 cognitive impairment typical (50%) HP:0100543
33 decreased corneal thickness typical (50%) HP:0100689
34 verrucae typical (50%) HP:0200043
35 coarse facial features occasional (7.5%) HP:0000280
36 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
37 generalized hyperpigmentation occasional (7.5%) HP:0007440
38 feeding difficulties in infancy occasional (7.5%) HP:0008872
39 large earlobe occasional (7.5%) HP:0009748
40 large face occasional (7.5%) HP:0100729
41 renal insufficiency rare (5%) HP:0000083
42 autosomal dominant inheritance HP:0000006
43 macroglossia HP:0000158
44 thick lower lip vermilion HP:0000179
45 high palate HP:0000218
46 hydrocephalus HP:0000238
47 macrocephaly HP:0000256
48 wide anterior fontanel HP:0000260
49 coarse facial features HP:0000280
50 epicanthus HP:0000286
51 full cheeks HP:0000293
52 pointed chin HP:0000307
53 hypertelorism HP:0000316
54 micrognathia HP:0000347
55 posteriorly rotated ears HP:0000358
56 low-set ears HP:0000369
57 anteverted nares HP:0000463
58 webbed neck HP:0000465
59 short neck HP:0000470
60 strabismus HP:0000486
61 downslanted palpebral fissures HP:0000494
62 ptosis HP:0000508
63 pectus carinatum HP:0000768
64 hyperpigmentation of the skin HP:0000953
65 acanthosis nigricans HP:0000956
66 hyperextensibility of the finger joints HP:0001187
67 intellectual disability HP:0001249
68 global developmental delay HP:0001263
69 failure to thrive HP:0001508
70 overgrowth HP:0001548
71 barrel-shaped chest HP:0001552
72 polyhydramnios HP:0001561
73 concave nail HP:0001598
74 hoarse voice HP:0001609
75 premature birth HP:0001622
76 ventricular septal defect HP:0001629
77 defect in the atrial septum HP:0001631
78 mitral valve prolapse HP:0001634
79 hypertrophic cardiomyopathy HP:0001639
80 pulmonic stenosis HP:0001642
81 talipes equinovarus HP:0001762
82 achilles tendon contracture HP:0001771
83 fragile nails HP:0001808
84 deep-set nails HP:0001814
85 thin nail HP:0001816
86 deep plantar creases HP:0001869
87 hypoglycemia HP:0001943
88 pyloric stenosis HP:0002021
89 poor suck HP:0002033
90 cerebral atrophy HP:0002059
91 pneumothorax HP:0002107
92 ventriculomegaly HP:0002119
93 curly hair HP:0002212
94 tracheomalacia HP:0002779
95 bronchomalacia HP:0002780
96 rhabdomyosarcoma HP:0002859
97 bladder carcinoma HP:0002862
98 obstructive sleep apnea HP:0002870
99 respiratory failure HP:0002878
100 limited elbow movement HP:0002996
101 sporadic HP:0003745
102 nevus HP:0003764
103 short stature HP:0004322
104 depressed nasal bridge HP:0005280
105 redundant neck skin HP:0005989
106 deep palmar crease HP:0006191
107 arnold-chiari type i malformation HP:0007099
108 sparse hair HP:0008070
109 vestibular schwannoma HP:0009588
110 arrhythmia HP:0011675
111 enlarged cerebellum HP:0012081

Drugs & Therapeutics for Costello Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Costello Syndrome

Genetic Tests for Costello Syndrome

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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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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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MGI Mouse Phenotypes related to Costello Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9HRAS, MAP2K2, FBLN5
2MP:00020068.6HRAS, MAP2K2, FBLN5
3MP:00053908.0ELN, MAP2K2, GLB1, HRAS
4MP:00053767.5HRAS, GLB1, MAP2K2, ELN, FBLN5

Publications for Costello Syndrome

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Articles related to Costello Syndrome:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
2
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. (24057668)
2014
3
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
4
Decreased bone mineral density in Costello syndrome. (24246682)
2014
5
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
6
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
7
Two new cases with Costello syndrome. (24021445)
2013
8
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. (20425820)
2010
9
Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy. (20307337)
2010
10
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. (19382114)
2009
11
Germline expression of H-Ras(G12V) causes neurological deficits associated to Costello syndrome. (18823404)
2009
12
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. (19213030)
2009
13
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. (19919001)
2009
14
Medical and surgical perspectives of cardiac hypertrophy in Costello syndrome. (19825250)
2009
15
Clarification of previously reported Costello syndrome patients. (18302240)
2008
16
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. (18386799)
2008
17
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? (18247425)
2008
18
A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. (18483625)
2008
19
Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome. (18203173)
2008
20
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
21
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. (17551924)
2007
22
Costello syndrome. (18032860)
2007
23
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. (17164262)
2007
24
Somatic mosaicism for an HRAS mutation causes Costello syndrome. (16969868)
2006
25
Obstructive sleep apnea in Costello syndrome. (16419102)
2006
26
Costello syndrome and hyperinsulinemic hypoglycemia. (16278907)
2005
27
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. (15264285)
2004
28
Is growth hormone treatment beneficial or harmful in Costello syndrome? (12807973)
2003
29
What syndrome is this? Costello syndrome. (14521568)
2003
30
Studies on the pathogenesis of Costello syndrome. (12676910)
2003
31
Anaesthetic implications of Costello syndrome. (12641690)
2003
32
Concerning "Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol". (12698963)
2003
33
Costello syndrome: an overview. (12561057)
2003
34
Anaesthesiological considerations in Costello syndrome. (11982853)
2002
35
A case of Costello syndrome and glycogen storage disease type III. (11836377)
2002
36
Growth hormone deficiency in Costello syndrome: a possible explanation for the short stature. (11148542)
2001
37
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. (10712202)
2000
38
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (10664222)
2000
39
Picture of the month. Costello syndrome. (10850515)
2000
40
Second case of bladder carcinoma in a patient with Costello syndrome. (10678668)
2000
41
Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts. (11146354)
2000
42
Costello syndrome. (9541110)
1998
43
Life-threatening cardiac involvement throughout life in a case of Costello syndrome. (9001809)
1996
44
Costello syndrome. (7722055)
1995
45
Costello syndrome: the natural history of a true postnatal growth retardation syndrome. (7546454)
1995
46
Hungarian case with Costello syndrome and translocation t(1,22) (7677162)
1995
47
Genetics of the Costello syndrome. (7528974)
1994
48
Cutis laxa: a feature of Costello syndrome. (7512146)
1994
49
Cutis laxa and the Costello syndrome. (8411045)
1993
50
Report on two patients with Costello syndrome and sialuria. (8291534)
1993

Variations for Costello Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Costello Syndrome:

64 (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

Clinvar genetic disease variations for Costello Syndrome:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1HRASNM_005343.2(HRAS): c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp)duplicationPathogenicGRCh38Chr 11, 533849: 533869
2HRASNM_005343.2(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
3HRASNM_005343.2(HRAS): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
4HRASNM_005343.2(HRAS): c.35G> C (p.Gly12Ala)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
5HRASNM_005343.2(HRAS): c.38G> A (p.Gly13Asp)single nucleotide variantPathogenicrs104894226GRCh37Chr 11, 534285: 534285
6HRASNM_005343.2(HRAS): c.350A> G (p.Lys117Arg)single nucleotide variantPathogenicrs104894227GRCh37Chr 11, 533553: 533553
7HRASNM_005343.2(HRAS): c.37G> T (p.Gly13Cys)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
8HRASNM_005343.2(HRAS): c.436G> A (p.Ala146Thr)single nucleotide variantPathogenicrs104894231GRCh37Chr 11, 533467: 533467
9HRASNM_005343.2(HRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs121917758GRCh37Chr 11, 533883: 533883
10HRASNM_005343.2(HRAS): c.437C> T (p.Ala146Val)single nucleotide variantPathogenicrs121917759GRCh37Chr 11, 533466: 533466
11HRASNM_005343.2(HRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
12HRASNM_005343.2(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
13HRASNM_005343.2(HRAS): c.110_111+1dupAGGduplicationPathogenicrs398122808GRCh37Chr 11, 534211: 534213
14HRASNM_005343.2(HRAS): c.108_110dupAGA (p.Glu37_Asp38insGlu)duplicationPathogenicrs398122809GRCh37Chr 11, 534213: 534215

Expression for genes affiliated with Costello Syndrome

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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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Pathways related to Costello Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4HRAS, MAP2K2
2
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.4HRAS, MAP2K2
39.4MAP2K2, HRAS
4
Show member pathways
9.4MAP2K2, HRAS
59.4HRAS, MAP2K2
69.4MAP2K2, HRAS
7
Show member pathways
9.4HRAS, MAP2K2
8
Show member pathways
9.4HRAS, MAP2K2
9
Show member pathways
9.4HRAS, MAP2K2
10
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.4MAP2K2, HRAS
11
Show member pathways
Development A2B receptor action via G protein alpha s60
9.4MAP2K2, HRAS
12
Show member pathways
9.4MAP2K2, HRAS
13
Show member pathways
9.4HRAS, MAP2K2
14
Show member pathways
9.4MAP2K2, HRAS
15
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
9.4MAP2K2, HRAS
169.4HRAS, MAP2K2
17
Show member pathways
Signal transduction PTEN pathway60
9.4HRAS, MAP2K2
18
Show member pathways
9.4HRAS, MAP2K2
199.4MAP2K2, HRAS
20
Show member pathways
Development Beta adrenergic receptors regulation of ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
9.4MAP2K2, HRAS
21
Show member pathways
Development A1 receptor signaling60
G protein signaling G Protein alpha q signaling cascades60
9.4HRAS, MAP2K2
22
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.4MAP2K2, HRAS
23
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.4MAP2K2, HRAS
24
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
9.4HRAS, MAP2K2
25
Show member pathways
9.4HRAS, MAP2K2
26
Show member pathways
Development Flt3 signaling60
9.4MAP2K2, HRAS
279.4MAP2K2, HRAS
28
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.4MAP2K2, HRAS
29
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.4MAP2K2, HRAS
309.4HRAS, MAP2K2
319.4MAP2K2, HRAS
32
Show member pathways
9.4MAP2K2, HRAS
339.4HRAS, MAP2K2
349.4HRAS, MAP2K2
35
Show member pathways
9.4MAP2K2, HRAS
369.4HRAS, MAP2K2
37
Show member pathways
IL-2 Signaling pathway37
9.4MAP2K2, HRAS
38
Show member pathways
9.4MAP2K2, HRAS
399.4HRAS, MAP2K2
40
Show member pathways
9.4HRAS, MAP2K2
419.4MAP2K2, HRAS
42
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors60
9.4HRAS, MAP2K2
439.4HRAS, MAP2K2
449.4HRAS, MAP2K2
45
Show member pathways
Immune response IL 3 activation and signaling pathway60
9.4HRAS, MAP2K2
46
Show member pathways
9.4MAP2K2, HRAS
47
Show member pathways
9.4HRAS, MAP2K2
48
Show member pathways
9.1ELN, FBLN5
49
Show member pathways
8.6HRAS, MAP2K2, ELN
50
Show member pathways
8.6HRAS, MAP2K2, ELN

Compounds for genes affiliated with Costello Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Costello Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1trifluoroethanol44 1110.3HRAS, ELN
2vgvapg449.3GLB1, ELN
3keratan sulfate449.3GLB1, ELN
4tetrapeptide449.3HRAS, ELN
5valine449.2HRAS, ELN
6lactose44 1110.1ELN, GLB1
7chondroitin sulfate44 2410.0GLB1, ELN
8vegf448.4HRAS, ELN, FBLN5

GO Terms for genes affiliated with Costello Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1elastic fiberGO:0719539.0ELN, FBLN5
2Golgi apparatusGO:0057948.9HRAS, GLB1, MAP2K2
3perinuclear region of cytoplasmGO:0484718.6HRAS, GLB1, MAP2K2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1activation of MAPKK activityGO:0001869.5HRAS, MAP2K2
2MAPK cascadeGO:0001659.5HRAS, MAP2K2
3Ras protein signal transductionGO:0072659.5HRAS, MAP2K2
4Fc-epsilon receptor signaling pathwayGO:0380959.4HRAS, MAP2K2
5insulin receptor signaling pathwayGO:0082869.3HRAS, MAP2K2
6organ morphogenesisGO:0098879.2ELN, HRAS
7fibroblast growth factor receptor signaling pathwayGO:0085439.1HRAS, MAP2K2

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.5HRAS, FBLN5
2protein bindingGO:0055157.2HRAS, GLB1, MAP2K2, ELN, FBLN5

Products for genes affiliated with Costello Syndrome

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet