CMEMS
MCID: CST001
MIFTS: 68

Costello Syndrome (CMEMS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Costello Syndrome

About this section

Aliases & Descriptions for Costello Syndrome:

Name: Costello Syndrome 52 11 23 48 24 25 54 70 27 39 13 68
Faciocutaneoskeletal Syndrome 11 48 25 54 70
Fcs Syndrome 11 48 25 54 70
Congenital Myopathy with Excess of Muscle Spindles 52 70 27 12
 
Myopathy, Congenital, with Excess of Muscle Spindles 68
Cmems 70
Cstlo 70
Fcss 70

Characteristics:

Orphanet epidemiological data:

54
costello syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Japan); Age of onset: Antenatal,Neonatal

HPO:

64
costello syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Mortality/Aging: sudden death

GeneReviews:

23
Penetrance: penetrance is complete [aoki et al 2005, estep et al 2006, gripp et al 2006a, kerr et al 2006]...


Classifications:



External Ids:

OMIM52 218040
Disease Ontology11 DOID:0050469
MeSH39 D056685
NCIt45 C84652
Orphanet54 ORPHA3071
MESH via Orphanet40 D056685
UMLS via Orphanet69 C0587248
ICD10 via Orphanet31 Q87.8
ICD1030 G71.2

Summaries for Costello Syndrome

About this section
NIH Rare Diseases:48 Costello syndrome is a rare condition that affects many different parts of the body. signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. beginning in early childhood, people with costello syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. costello syndrome is caused by changes (mutations) in the hras gene. it is considered an autosomal dominant condition, but almost all cases are the result of de novo gene mutations and occur in people with no family history of the condition. treatment is based on the signs and symptoms present in each person. costello syndrome belongs to a group of related conditions called the rasopathies. these conditions have some overlapping features and are all caused by genetic changes that disrupt the body's ras pathway, affecting growth and development. the features of costello syndrome overlap significantly with two of the rasopathies, cardiofaciocutaneous (cfc) syndrome and noonan syndrome. last updated: 3/9/2016

MalaCards based summary: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to cardiofaciocutaneous syndrome and cutis laxa, ad, and has symptoms including hoarseness, hoarseness and koilonychia. An important gene associated with Costello Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways are Immune response IFN gamma signaling pathway and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include heart, skin and brain, and related mouse phenotypes are Decreased cell migration and neoplasm.

Disease Ontology:11 A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

Genetics Home Reference:25 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.

OMIM:52 Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse... (218040) more...

UniProtKB/Swiss-Prot:70 Congenital myopathy with excess of muscle spindles: Variant of Costello syndrome. Costello syndrome: A rare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities.

Wikipedia:71 Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder... more...

GeneReviews for NBK1507

Related Diseases for Costello Syndrome

About this section

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome11.3
2cutis laxa, ad10.8
3noonan syndrome 110.8
4parotid gland adenoid cystic carcinoma10.2HRAS, MAP2K1
5malignant skin fibrous histiocytoma10.2HRAS, KRAS
6chronic venous insufficiency10.2HRAS, KRAS
7growth hormone insensitivity with immunodeficiency10.2MAP2K2, PTPN11
8severe pre-eclampsia10.2HRAS, KRAS
9nephrolithiasis10.2HRAS, PTPN11
10erythrocyte lactate transporter defect10.2HRAS, KRAS
11melanocytic nevus syndrome, congenital, somatic10.2HRAS, KRAS
12bile duct disease10.2HRAS, KRAS
13postpoliomyelitis syndrome10.2HRAS, KRAS
14precursor t-lymphoblastic lymphoma/leukemia10.2HRAS, KRAS
15gonococcal seminal vesiculitis10.2HRAS, KRAS
16pelvic inflammatory disease10.2HRAS, KRAS
17kidney clear cell sarcoma10.2HRAS, KRAS
18polyp of middle ear10.1MAP2K1, MAP2K2
19cervical serous adenocarcinoma10.1HRAS, KRAS
20breast mucinous cystadenocarcinoma10.1HRAS, KRAS
21uterine corpus endometrial stromal sarcoma10.1HRAS, KRAS
22rhabdomyosarcoma10.1
23skin epithelioid hemangioma10.1HRAS, MAP2K1, PTPN11
24striated muscle rhabdoid tumor10.1HRAS, KRAS
25vulvar apocrine adenocarcinoma10.1PTPN11, SOS1
26papillary adenofibroma10.1HRAS, KRAS
27vulvar sebaceous carcinoma10.1PTPN11, SOS1
28spongiotic dermatitis10.1HRAS, KRAS, MAP2K1
29medullary cystic kidney disease 110.1HRAS, KRAS, PTPN11
30bilateral hypoactive labyrinth10.1HRAS, KRAS
31aicardi-goutieres syndrome10.1HRAS, KRAS
32glomeruloid hemangioma10.1HRAS, KRAS, PTPN11
33tabes dorsalis10.0HRAS, KRAS
34cardiomyopathy10.0
35embryonal rhabdomyosarcoma10.0
36pseudomonas stutzeri infections10.0KRAS, PTPN11, SOS1
37rdh12-related leber congenital amaurosis9.9KRAS, PTPN11, SOS1
38ossifying fibromyxoid tumor9.9HRAS, KRAS
39cutis laxa9.9
40pancreatitis9.9
41hypoglycemia9.9
42chromosome 15q11-q13 duplication syndrome9.9HRAS, MAP2K1, PTPN11, SOS1
43hyperinsulinemic hypoglycemia9.8
44growth hormone deficiency9.8
45syndactyly-polydactyly-earlobe syndrome9.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
46beckwith-wiedemann syndrome9.8
47scoliosis9.8
48papilloma9.8
49polyhydramnios9.8
50neurofibromatosis9.8

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



Diseases related to costello syndrome

Symptoms & Phenotypes for Costello Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

218040

Clinical features from OMIM:

218040

Human phenotypes related to Costello Syndrome:

 54 64 (show all 97)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 macroglossia64 54 Frequent (79-30%) HP:0000158
3 abnormality of the teeth54 Frequent (79-30%)
4 thick lower lip vermilion64 54 Frequent (79-30%) HP:0000179
5 narrow palate64 54 Very frequent (99-80%) HP:0000189
6 macrocephaly64 54 Very frequent (99-80%) HP:0000256
7 coarse facial features64 54 Occasional (29-5%) HP:0000280
8 epicanthus64 54 Frequent (79-30%) HP:0000286
9 full cheeks64 54 Frequent (79-30%) HP:0000293
10 low-set, posteriorly rotated ears64 54 Occasional (29-5%) HP:0000368
11 short neck64 54 Very frequent (99-80%) HP:0000470
12 thickened nuchal skin fold64 54 Frequent (79-30%) HP:0000474
13 strabismus64 54 Frequent (79-30%) HP:0000486
14 keratoconus64 54 Frequent (79-30%) HP:0000563
15 abnormality of dental enamel64 54 Frequent (79-30%) HP:0000682
16 abnormality of the skin54 Very frequent (99-80%)
17 acanthosis nigricans64 54 Very frequent (99-80%) HP:0000956
18 hyperkeratosis64 54 Very frequent (99-80%) HP:0000962
19 abnormality of the fingernails64 54 Very frequent (99-80%) HP:0001231
20 intellectual disability64 54 Frequent (79-30%) HP:0001249
21 failure to thrive in infancy64 54 Very frequent (99-80%) HP:0001531
22 polyhydramnios64 54 Frequent (79-30%) HP:0001561
23 redundant skin64 54 Very frequent (99-80%) HP:0001582
24 abnormality of the hair54 Occasional (29-5%)
25 concave nail64 54 Very frequent (99-80%) HP:0001598
26 ventricular septal defect64 54 Very frequent (99-80%) HP:0001629
27 mitral valve prolapse64 54 Frequent (79-30%) HP:0001634
28 hypertrophic cardiomyopathy64 54 Frequent (79-30%) HP:0001639
29 pulmonic stenosis64 54 Very frequent (99-80%) HP:0001642
30 hypoplastic toenails64 54 Frequent (79-30%) HP:0001800
31 deep-set nails64 54 Very frequent (99-80%) HP:0001814
32 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
33 poor suck64 54 Occasional (29-5%) HP:0002033
34 cerebral cortical atrophy64 54 Frequent (79-30%) HP:0002120
35 woolly hair64 54 Very frequent (99-80%) HP:0002224
36 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
37 short stature64 54 Very frequent (99-80%) HP:0004322
38 thickened achilles tendon64 54 Frequent (79-30%) HP:0004690
39 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
40 joint hyperflexibility64 54 Frequent (79-30%) HP:0005692
41 generalized hyperpigmentation64 54 Occasional (29-5%) HP:0007440
42 abnormal dermatoglyphics64 54 Frequent (79-30%) HP:0007477
43 feeding difficulties in infancy54 Very frequent (99-80%)
44 ulnar deviation of finger64 54 Frequent (79-30%) HP:0009465
45 large earlobe64 54 Occasional (29-5%) HP:0009748
46 papilloma64 54 Frequent (79-30%) HP:0012740
47 lack of skin elasticity64 54 Very frequent (99-80%) HP:0100679
48 large face64 54 Occasional (29-5%) HP:0100729
49 renal insufficiency64 HP:0000083
50 high palate64 HP:0000218
51 hydrocephalus64 HP:0000238
52 wide anterior fontanel64 HP:0000260
53 pointed chin64 HP:0000307
54 hypertelorism64 HP:0000316
55 micrognathia64 HP:0000347
56 posteriorly rotated ears64 HP:0000358
57 low-set ears64 HP:0000369
58 anteverted nares64 HP:0000463
59 webbed neck64 HP:0000465
60 downslanted palpebral fissures64 HP:0000494
61 ptosis64 HP:0000508
62 pectus carinatum64 HP:0000768
63 hyperpigmentation of the skin64 HP:0000953
64 hyperextensibility of the finger joints64 HP:0001187
65 global developmental delay64 HP:0001263
66 failure to thrive64 HP:0001508
67 overgrowth64 HP:0001548
68 barrel-shaped chest64 HP:0001552
69 hoarse voice64 HP:0001609
70 premature birth64 HP:0001622
71 atrial septal defect64 HP:0001631
72 talipes equinovarus64 HP:0001762
73 achilles tendon contracture64 HP:0001771
74 fragile nails64 HP:0001808
75 thin nail64 HP:0001816
76 deep plantar creases64 HP:0001869
77 hypoglycemia64 HP:0001943
78 pyloric stenosis64 HP:0002021
79 cerebral atrophy64 HP:0002059
80 pneumothorax64 HP:0002107
81 ventriculomegaly64 HP:0002119
82 curly hair64 HP:0002212
83 tracheomalacia64 HP:0002779
84 bronchomalacia64 HP:0002780
85 rhabdomyosarcoma64 HP:0002859
86 bladder carcinoma64 HP:0002862
87 obstructive sleep apnea64 HP:0002870
88 respiratory failure64 HP:0002878
89 limited elbow movement64 HP:0002996
90 nevus64 HP:0003764
91 redundant neck skin64 HP:0005989
92 deep palmar crease64 HP:0006191
93 arnold-chiari type i malformation64 HP:0007099
94 sparse hair64 HP:0008070
95 vestibular schwannoma64 HP:0009588
96 arrhythmia64 HP:0011675
97 enlarged cerebellum64 HP:0012081

UMLS symptoms related to Costello Syndrome:


hoarseness, koilonychia

GenomeRNAi Phenotypes related to Costello Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-19.5HRAS, KRAS, MAP2K2, SOS1

MGI Mouse Phenotypes related to Costello Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
2MP:00053819.1KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
3MP:00053798.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
4MP:00107718.7HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
5MP:00053858.3HRAS, KRAS, MAP2K1, MAP2K2, MFAP2, PTPN11
6MP:00053828.0CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
7MP:00053787.4CHST11, HRAS, KRAS, MAP2K1, MAP2K2, MFAP2
8MP:00053906.6CHST11, HRAS, KRAS, MAP2K1, MAP2K2, MFAP2

Drugs & Therapeutics for Costello Syndrome

About this section

Drugs for Costello Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bortezomibapproved, investigationalPhase 3807179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
2
LenalidomideapprovedPhase 3736191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
3
Dexamethasoneapproved, investigational, vet_approvedPhase 3217150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
4Angiogenesis InhibitorsPhase 34257
5glucocorticoidsPhase 35103
6Hormone AntagonistsPhase 313180
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
8
protease inhibitorsPhase 35471
Synonyms:
 
protease inhibitors
9Peripheral Nervous System AgentsPhase 323689
10Immunosuppressive AgentsPhase 313086
11Gastrointestinal AgentsPhase 38402
12HormonesPhase 314415
13HIV Protease InhibitorsPhase 35470
14Anti-Infective AgentsPhase 322062
15AntiemeticsPhase 34022
16Dexamethasone acetatePhase 321711177-87-3
17Angiogenesis Modulating AgentsPhase 34185
18Anti-Inflammatory AgentsPhase 310729
19Anti-Bacterial AgentsPhase 311226
20Antineoplastic Agents, HormonalPhase 35592
21Dexamethasone 21-phosphatePhase 32171
22BB 1101Phase 32171
23Autonomic AgentsPhase 310150
24
nivolumabapprovedPhase 1424946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
25ImmunoglobulinsPhase 16394
26Antibodies, MonoclonalPhase 14039
27AntibodiesPhase 16394
28
Azacitidineapproved, investigational529320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027
29Anesthetics9596
30Antimetabolites12054
31Antimetabolites, Antineoplastic7361

Interventional clinical trials:

idNameStatusNCT IDPhase
1Randomized Trial of Lenalidomide, Bortezomib, Dexamethasone vs High-Dose Treatment With SCT in MM Patients up to Age 65RecruitingNCT01208662Phase 3
2Ipilimumab or Nivolumab in Treating Patients With Relapsed Hematologic Malignancies After Donor Stem Cell TransplantRecruitingNCT01822509Phase 1
3Pathophysiology Analysis of "Costello Syndrome" on Cellular ModelsCompletedNCT02812511
4Cohort of HIV Associated LymphomasActive, not recruitingNCT01164436
5Evaluation of Cytidine Deaminase for Patient Suffering of a Myelodysplastic Syndrom or an AML Treated by AzacytidineNot yet recruitingNCT02489929

Search NIH Clinical Center for Costello Syndrome


Cochrane evidence based reviews: costello syndrome

Genetic Tests for Costello Syndrome

About this section

Genetic tests related to Costello Syndrome:

id Genetic test Affiliating Genes
1 Costello Syndrome27 24 HRAS
2 Myopathy, Congenital, with Excess of Muscle Spindles27

Anatomical Context for Costello Syndrome

About this section

MalaCards organs/tissues related to Costello Syndrome:

36
Heart, Skin, Brain, Cerebellum, Tongue, Pancreatic islet, Spinal cord

Publications for Costello Syndrome

About this section

Articles related to Costello Syndrome:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser. (28141901)
2017
2
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. (28337834)
2017
3
A comparison of the functional health of children with Costello syndrome in 1999 and in 2015. (28488342)
2017
4
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update. (28328122)
2017
5
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature. (28203467)
2017
6
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. (28371260)
2017
7
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. (28421158)
2017
8
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. (28139825)
2017
9
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. (28374929)
2017
10
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. (28455154)
2017
11
Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. (28455524)
2017
12
Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. (26740656)
2016
13
Respiratory system involvement in Costello syndrome. (27102959)
2016
14
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure. (26778095)
2016
15
EP05.10: Doppler assessment of hypertrophic cardiomyopathy in a case of Costello syndrome. (27647476)
2016
16
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. (28008647)
2016
17
Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation. (26812928)
2016
18
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. (28027064)
2016
19
Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome. (27705751)
2016
20
Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome. (26916728)
2016
21
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. (27195699)
2016
22
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. (26190969)
2015
23
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. (26138095)
2015
24
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with Costello syndrome: Case report and review of the literature. (25668678)
2015
25
Anaesthetic Management in Costello Syndrome. (27366541)
2015
26
Costello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment. (25815234)
2015
27
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. (26572961)
2015
28
Human papilloma virus-infected genital warts in a girl with Costello syndrome. (25787333)
2015
29
Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient. (25677562)
2015
30
Dysregulation of astrocyte extracellular signaling in Costello syndrome. (25947161)
2015
31
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. (25914166)
2015
32
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding. (26246091)
2015
33
Decreased bone mineral density in Costello syndrome. (24246682)
2014
34
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
35
Cardiac events in Costello syndrome: One case and a review of the literature. (24719541)
2014
36
Craniofacial and dental development in Costello syndrome. (24668879)
2014
37
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
38
Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease. (25133308)
2014
39
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. (24057668)
2014
40
Behavioral phenotype in Costello syndrome with atypical mutation: A case report. (25367099)
2014
41
Syndrome in question. Costello syndrome. (25387514)
2014
42
Growth hormone replacement therapy in Costello syndrome. (25459872)
2014
43
Anesthetic management of Costello syndrome: a case report. (24902452)
2014
44
Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome. (24637993)
2014
45
Early Postnatal Diagnosis of Costello Syndrome. (25062109)
2014
46
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
47
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
48
'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome. (23106483)
2013
49
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. (24224811)
2013
50
Keratoconus in Costello syndrome. (23494969)
2013

Variations for Costello Syndrome

About this section

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

70 (show all 14)
id Symbol AA change Variation ID SNP ID
1HRASp.Gly12ValVAR_006836rs104894230
2HRASp.Gly12SerVAR_006837rs104894229
3HRASp.Gly12AlaVAR_026106rs104894230
4HRASp.Gly13CysVAR_026107rs104894228
5HRASp.Gly13AspVAR_026108rs104894226
6HRASp.Gly12CysVAR_045975rs104894229
7HRASp.Gly12GluVAR_045976
8HRASp.Gln22LysVAR_045977rs121917757
9HRASp.Thr58IleVAR_045978rs121917758
10HRASp.Glu63LysVAR_045980rs121917756
11HRASp.Lys117ArgVAR_045981rs104894227
12HRASp.Ala146ThrVAR_045982rs104894231
13HRASp.Ala146ValVAR_045983rs121917759
14HRASp.Gly12AspVAR_068816rs104894230

Clinvar genetic disease variations for Costello Syndrome:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1HRASNM_ 005343.3(HRAS): c.187_ 207dup21 (p.Asp69_ Gln70insGluTyrSerAlaMetArgAsp)duplicationPathogenicrs587777239GRCh38Chr 11, 533849: 533869
2HRASNM_ 005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
3HRASNM_ 005343.3(HRAS): c.34G> A (p.Gly12Ser)SNVPathogenic/ Likely pathogenicrs104894229GRCh37Chr 11, 534289: 534289
4HRASNM_ 005343.3(HRAS): c.35G> C (p.Gly12Ala)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
5HRASNM_ 005343.3(HRAS): c.38G> A (p.Gly13Asp)SNVPathogenicrs104894226GRCh37Chr 11, 534285: 534285
6HRASNM_ 005343.3(HRAS): c.350A> G (p.Lys117Arg)SNVPathogenicrs104894227GRCh38Chr 11, 533553: 533553
7HRASNM_ 005343.3(HRAS): c.37G> T (p.Gly13Cys)SNVPathogenic/ Likely pathogenicrs104894228GRCh37Chr 11, 534286: 534286
8HRASNM_ 005343.3(HRAS): c.436G> A (p.Ala146Thr)SNVPathogenic/ Likely pathogenicrs104894231GRCh37Chr 11, 533467: 533467
9HRASNM_ 005343.3(HRAS): c.64C> A (p.Gln22Lys)SNVPathogenic/ Likely pathogenicrs121917757GRCh37Chr 11, 534259: 534259
10HRASNM_ 176795.4(HRAS): c.173C> T (p.Thr58Ile)SNVPathogenicrs121917758GRCh37Chr 11, 533883: 533883
11HRASNM_ 005343.3(HRAS): c.437C> T (p.Ala146Val)SNVPathogenic/ Likely pathogenicrs121917759GRCh37Chr 11, 533466: 533466
12HRASNM_ 005343.3(HRAS): c.35G> A (p.Gly12Asp)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
13HRASNM_ 005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenic/ Likely pathogenicrs104894229GRCh37Chr 11, 534289: 534289
14HRASNM_ 005343.3(HRAS): c.35_ 36delGCinsAA (p.Gly12Glu)indelPathogenic/ Likely pathogenicrs727503094GRCh37Chr 11, 534287: 534288
15HRASNM_ 005343.3(HRAS): c.175_ 176delGCinsCT (p.Ala59Leu)indelLikely pathogenicrs727504747GRCh38Chr 11, 533880: 533881
16HRASNM_ 005343.3(HRAS): c.110_ 111+1dupAGGduplicationPathogenicrs398122808GRCh37Chr 11, 534211: 534213
17HRASNM_ 005343.3(HRAS): c.108_ 110dupAGA (p.Glu37_ Asp38insGlu)duplicationPathogenicrs398122809GRCh37Chr 11, 534213: 534215
18HRASNM_ 005343.3(HRAS): c.175G> A (p.Ala59Thr)SNVLikely pathogenicrs727503093GRCh37Chr 11, 533881: 533881

Copy number variations for Costello Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1483381112800000Genomic rearrangemen tHRASCostello syndrome

Expression for genes affiliated with Costello Syndrome

About this section
Search GEO for disease gene expression data for Costello Syndrome.

Pathways for genes affiliated with Costello Syndrome

About this section

Pathways related to Costello Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 169)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8MAP2K1, PTPN11
29.7HRAS, SOS1
39.7MAP2K1, MAP2K2
49.7MAP2K1, MAP2K2
59.7MAP2K1, MAP2K2
69.7MAP2K1, MAP2K2
79.7MAP2K1, MAP2K2
89.7MAP2K1, MAP2K2
99.7MAP2K1, MAP2K2
109.7PTPN11, SOS1
119.5HRAS, KRAS
129.5HRAS, KRAS
139.5HRAS, KRAS
149.5HRAS, KRAS
15
Show member pathways
9.5HRAS, KRAS
169.5HRAS, KRAS
179.4KRAS, SOS1
18
Show member pathways
9.4HRAS, MAP2K1, MAP2K2
199.4HRAS, MAP2K1, MAP2K2
209.4HRAS, MAP2K1, MAP2K2
219.4HRAS, PTPN11, SOS1
229.4HRAS, PTPN11, SOS1
239.4HRAS, PTPN11, SOS1
24
Show member pathways
9.4HRAS, PTPN11, SOS1
259.4HRAS, PTPN11, SOS1
26
Show member pathways
9.4HRAS, PTPN11, SOS1
27
Show member pathways
9.3MAP2K1, MAP2K2, PTPN11
28
Show member pathways
9.3MAP2K1, MAP2K2, PTPN11
29
Show member pathways
9.3HRAS, MAP2K1, SOS1
30
Show member pathways
9.3MAP2K1, PTPN11, SOS1
31
Show member pathways
9.2MAP2K1, MAP2K2, SOS1
329.2MAP2K1, MAP2K2, SOS1
33
Show member pathways
9.2MAP2K1, MAP2K2, SOS1
349.2HRAS, KRAS, PTPN11
359.2HRAS, KRAS, MAP2K1
369.2HRAS, KRAS, MAP2K1
37
Show member pathways
9.1HRAS, KRAS, SOS1
38
Show member pathways
9.1HRAS, KRAS, SOS1
399.1HRAS, KRAS, SOS1
40
Show member pathways
9.1HRAS, KRAS, SOS1
419.1HRAS, KRAS, SOS1
42
Show member pathways
9.1HRAS, KRAS, SOS1
43
Show member pathways
9.1HRAS, KRAS, SOS1
44
Show member pathways
9.1HRAS, KRAS, SOS1
45
Show member pathways
9.1HRAS, KRAS, SOS1
469.1KRAS, MAP2K1, MAP2K2
47
Show member pathways
9.1KRAS, MAP2K1, MAP2K2
489.0HRAS, MAP2K1, MAP2K2, PTPN11
499.0HRAS, MAP2K1, MAP2K2, PTPN11
509.0KRAS, MAP2K1, SOS1

GO Terms for genes affiliated with Costello Syndrome

About this section

Biological processes related to Costello Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1cellular senescenceGO:009039810.5HRAS, MAP2K1
2Bergmann glial cell differentiationGO:006002010.5MAP2K1, PTPN11
3cerebellar cortex formationGO:002169710.5MAP2K1, PTPN11
4ERK1 and ERK2 cascadeGO:007037110.4MAP2K1, MAP2K2
5neurotrophin TRK receptor signaling pathwayGO:004801110.3PTPN11, SOS1
6positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.3MAP2K1, MAP2K2
7positive regulation of protein serine/threonine kinase activityGO:007190210.3MAP2K1, MAP2K2
8proteolysis in other organismGO:003589710.3MAP2K1, MAP2K2
9regulation of early endosome to late endosome transportGO:200064110.3MAP2K1, MAP2K2
10regulation of Golgi inheritanceGO:009017010.3MAP2K1, MAP2K2
11regulation of stress-activated MAPK cascadeGO:003287210.3MAP2K1, MAP2K2
12homeostasis of number of cells within a tissueGO:004887310.2KRAS, PTPN11
13regulation of long-term neuronal synaptic plasticityGO:004816910.2HRAS, KRAS
14response to isolation stressGO:003590010.1HRAS, KRAS
15activation of MAPK activityGO:000018710.1MAP2K1, MAP2K2, PTPN11
16negative regulation of gene expressionGO:001062910.0HRAS, MAP2K1, MAP2K2
17ERBB2 signaling pathwayGO:00381289.8HRAS, KRAS, SOS1
18Fc-epsilon receptor signaling pathwayGO:00380959.8HRAS, KRAS, SOS1
19respiratory gaseous exchangeGO:00075859.7CHST11, ELN
20Ras protein signal transductionGO:00072659.7HRAS, KRAS, SOS1
21positive regulation of ERK1 and ERK2 cascadeGO:00703749.7HRAS, MAP2K1, MAP2K2, PTPN11
22axon guidanceGO:00074119.5HRAS, KRAS, PTPN11, SOS1
23epidermal growth factor receptor signaling pathwayGO:00071739.5HRAS, KRAS, PTPN11, SOS1
24leukocyte migrationGO:00509009.4HRAS, KRAS, PTPN11, SOS1
25small GTPase mediated signal transductionGO:00072649.1HRAS, KRAS, SOS1
26MAPK cascadeGO:00001659.0HRAS, KRAS, MAP2K1, MAP2K2, SOS1

Molecular functions related to Costello Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase activityGO:000470810.3MAP2K1, MAP2K2
2protein serine/threonine kinase activator activityGO:004353910.1MAP2K1, MAP2K2
3protein serine/threonine/tyrosine kinase activityGO:00047129.7MAP2K1, MAP2K2
4nucleotide bindingGO:00001669.2HRAS, KRAS, MAP2K1, MAP2K2

Sources for Costello Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet