MCID: CST001
MIFTS: 69

Costello Syndrome 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 51 11 23 47 24 25 53 69 26 38 13 67
Faciocutaneoskeletal Syndrome 11 47 25 53 69
Fcs Syndrome 11 47 25 53 69
Congenital Myopathy with Excess of Muscle Spindles 51 69 26 12
 
Myopathy, Congenital, with Excess of Muscle Spindles 67
Cmems 69
Cstlo 69
Fcss 69

Characteristics:

Orphanet epidemiological data:

53
costello syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Japan); Age of onset: Antenatal,Neonatal

HPO:

63
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:

OMIM51 218040
Disease Ontology11 DOID:0050469
MeSH38 D056685
NCIt44 C84652
Orphanet53 ORPHA3071
MESH via Orphanet39 D056685
UMLS via Orphanet68 C0587248
ICD10 via Orphanet30 Q87.8

Summaries for Costello Syndrome

About this section
NIH Rare Diseases:47 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 papilloma and cardiofaciocutaneous syndrome, and has symptoms including abnormality of the palate, macrocephaly and short neck. An important gene associated with Costello Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways are Nongenotropic Androgen signaling and Development_Leptin signaling via JAK/STAT and MAPK cascades. Affiliated tissues include heart, skin and brain, and related mouse phenotypes are hearing/vestibular/ear 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:51 Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse... (218040) more...

UniProtKB/Swiss-Prot:69 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:70 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1papilloma30.1HRAS, KRAS
2cardiofaciocutaneous syndrome11.3
3cutis laxa, ad10.8
4noonan syndrome 110.8
5neonatal stroke10.4HRAS, PTPN11
6vagina sarcoma10.4HRAS, KRAS
7glomerulosclerosis10.4HRAS, KRAS
8gonococcal spondylitis10.4HRAS, KRAS
9epidermal nevus, somatic10.4HRAS, KRAS
10schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.4HRAS, KRAS
11myxosarcoma10.4HRAS, KRAS
12growth hormone insensitivity with immunodeficiency10.4MAP2K2, PTPN11
13seminal vesicle chronic gonorrhea10.4HRAS, KRAS
14ureter adenocarcinoma10.4HRAS, KRAS
15trachea adenoid cystic carcinoma10.4HRAS, KRAS
16breast papillary carcinoma10.4HRAS, KRAS
17spindle epithelial tumor with thymus-like differentiation tumor10.4HRAS, KRAS
18uterine ligament serous adenocarcinoma10.4HRAS, KRAS
19appendix mucinous cystadenocarcinoma10.4HRAS, KRAS
20tabes dorsalis10.4HRAS, KRAS
21acanthoma10.3HRAS, KRAS
22adenofibroma10.3HRAS, KRAS
23migraine with aura10.3HRAS, KRAS
24ovarian serous adenofibroma10.3HRAS, KRAS
25advanced sleep phase syndrome10.3HRAS, KRAS
26rete testis neoplasm10.3HRAS, KRAS
27vibratory urticaria10.3HRAS, KRAS
28gastric adenocarcinoma10.3HRAS, KRAS
29epilepsy with generalized tonic-clonic seizures10.3HRAS, KRAS
30c8 deficiency, type ii10.3MAP2K1, MAP2K2
31critical congenital heart disease10.3HRAS, KRAS
32pyoderma10.2HRAS, KRAS
33adenosquamous carcinoma10.2HRAS, KRAS
34follicular mucinosis10.2PTPN11, SOS1
35intrahepatic cholangiocarcinoma10.2HRAS, KRAS
36cervical adenoid basal carcinoma10.2PTPN11, SOS1
37breast scirrhous carcinoma10.2HRAS, KRAS
38pancreatic serous cystadenocarcinoma10.2PTPN11, SOS1
39hemangioma of lung10.2HRAS, KRAS
40dermatosis papulosa nigra10.1HRAS, KRAS, MAP2K1
41early congenital syphilis10.1HRAS, KRAS
42pericarditis10.1HRAS, KRAS, MAP2K1
43rhabdomyosarcoma10.1
44gastrointestinal neuroendocrine tumor10.0HRAS, KRAS
45childhood parosteal osteogenic sarcoma10.0ELN, PTPN11
46cardiomyopathy10.0
47lactocele10.0ELN, HRAS
48periapical granuloma10.0HRAS, KRAS
49cutis laxa9.9
50embryonal rhabdomyosarcoma9.9

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



Diseases related to costello syndrome

Symptoms for Costello Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

218040

Clinical features from OMIM:

218040

Human phenotypes related to Costello Syndrome:

 63 53 (show all 107)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate63 hallmark (90%) HP:0000174
2 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
3 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
4 abnormality of dental enamel63 53 hallmark (90%) Frequent (79-30%) HP:0000682
5 acanthosis nigricans63 53 hallmark (90%) Very frequent (99-80%) HP:0000956
6 hyperkeratosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000962
7 cutis laxa63 hallmark (90%) HP:0000973
8 abnormality of the fingernails63 53 hallmark (90%) Very frequent (99-80%) HP:0001231
9 ventricular septal defect63 53 hallmark (90%) Very frequent (99-80%) HP:0001629
10 abnormality of the pulmonary valve63 hallmark (90%) HP:0001641
11 woolly hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002224
12 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
13 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
14 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
15 lack of skin elasticity63 53 hallmark (90%) Very frequent (99-80%) HP:0100679
16 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
17 abnormality of the tongue63 typical (50%) HP:0000157
18 thick lower lip vermilion63 53 typical (50%) Frequent (79-30%) HP:0000179
19 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
20 full cheeks63 53 typical (50%) Frequent (79-30%) HP:0000293
21 thickened nuchal skin fold63 53 typical (50%) Frequent (79-30%) HP:0000474
22 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
23 joint hypermobility63 typical (50%) HP:0001382
24 polyhydramnios63 53 typical (50%) Frequent (79-30%) HP:0001561
25 abnormality of the mitral valve63 typical (50%) HP:0001633
26 hypertrophic cardiomyopathy63 53 typical (50%) Frequent (79-30%) HP:0001639
27 hypoplastic toenails63 53 typical (50%) Frequent (79-30%) HP:0001800
28 cerebral cortical atrophy63 53 typical (50%) Frequent (79-30%) HP:0002120
29 abnormal dermatoglyphics63 53 typical (50%) Frequent (79-30%) HP:0007477
30 ulnar deviation of finger63 53 typical (50%) Frequent (79-30%) HP:0009465
31 abnormal tendon morphology63 typical (50%) HP:0100261
32 cognitive impairment63 typical (50%) HP:0100543
33 decreased corneal thickness63 typical (50%) HP:0100689
34 verrucae63 typical (50%) HP:0200043
35 coarse facial features63 53 occasional (7.5%) Occasional (29-5%) HP:0000280
36 low-set, posteriorly rotated ears63 53 occasional (7.5%) Occasional (29-5%) HP:0000368
37 generalized hyperpigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007440
38 feeding difficulties in infancy63 53 occasional (7.5%) Very frequent (99-80%) HP:0008872
39 large earlobe63 53 occasional (7.5%) Occasional (29-5%) HP:0009748
40 large face63 53 occasional (7.5%) Occasional (29-5%) HP:0100729
41 renal insufficiency63 rare (5%) HP:0000083
42 macroglossia63 53 Frequent (79-30%) HP:0000158
43 high palate63 HP:0000218
44 hydrocephalus63 HP:0000238
45 wide anterior fontanel63 HP:0000260
46 pointed chin63 HP:0000307
47 hypertelorism63 HP:0000316
48 micrognathia63 HP:0000347
49 posteriorly rotated ears63 HP:0000358
50 low-set ears63 HP:0000369
51 anteverted nares63 HP:0000463
52 webbed neck63 HP:0000465
53 downslanted palpebral fissures63 HP:0000494
54 ptosis63 HP:0000508
55 pectus carinatum63 HP:0000768
56 hyperpigmentation of the skin63 HP:0000953
57 hyperextensibility of the finger joints63 HP:0001187
58 intellectual disability63 53 Frequent (79-30%) HP:0001249
59 global developmental delay63 HP:0001263
60 failure to thrive63 HP:0001508
61 overgrowth63 HP:0001548
62 barrel-shaped chest63 HP:0001552
63 concave nail63 53 Very frequent (99-80%) HP:0001598
64 hoarse voice63 HP:0001609
65 premature birth63 HP:0001622
66 atria septal defect63 HP:0001631
67 mitral valve prolapse63 53 Frequent (79-30%) HP:0001634
68 pulmonic stenosis63 53 Very frequent (99-80%) HP:0001642
69 talipes equinovarus63 HP:0001762
70 achilles tendon contracture63 HP:0001771
71 fragile nails63 HP:0001808
72 deep-set nails63 53 Very frequent (99-80%) HP:0001814
73 thin nail63 HP:0001816
74 deep plantar creases63 HP:0001869
75 hypoglycemia63 HP:0001943
76 pyloric stenosis63 HP:0002021
77 poor suck63 53 Occasional (29-5%) HP:0002033
78 cerebral atrophy63 HP:0002059
79 pneumothorax63 HP:0002107
80 ventriculomegaly63 HP:0002119
81 curly hair63 HP:0002212
82 tracheomalacia63 HP:0002779
83 bronchomalacia63 HP:0002780
84 rhabdomyosarcoma63 HP:0002859
85 bladder carcinoma63 HP:0002862
86 obstructive sleep apnea63 HP:0002870
87 respiratory failure63 HP:0002878
88 limited elbow movement63 HP:0002996
89 nevus63 HP:0003764
90 redundant neck skin63 HP:0005989
91 deep palmar crease63 HP:0006191
92 arnold-chiari type i malformation63 HP:0007099
93 sparse hair63 HP:0008070
94 vestibular schwannoma63 HP:0009588
95 arrhythmia63 HP:0011675
96 enlarged cerebellum63 HP:0012081
97 abnormality of the teeth53 Frequent (79-30%)
98 narrow palate53 Very frequent (99-80%)
99 keratoconus53 Frequent (79-30%)
100 abnormality of the skin53 Very frequent (99-80%)
101 failure to thrive in infancy53 Very frequent (99-80%)
102 redundant skin53 Very frequent (99-80%)
103 abnormality of the hair53 Occasional (29-5%)
104 gastroesophageal reflux53 Frequent (79-30%)
105 thickened achilles tendon53 Frequent (79-30%)
106 joint hyperflexibility53 Frequent (79-30%)
107 papilloma53 Frequent (79-30%)

UMLS symptoms related to Costello Syndrome:


hoarseness, koilonychia

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 3794179324-69-7387447, 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 3718191732-72-6216326
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 3208450-02-25743
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 34143
5glucocorticoidsPhase 34920
6Hormone AntagonistsPhase 312778
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
8
protease inhibitorsPhase 35320
Synonyms:
 
protease inhibitors
9Peripheral Nervous System AgentsPhase 322776
10Immunosuppressive AgentsPhase 312770
11Gastrointestinal AgentsPhase 38109
12HormonesPhase 313979
13HIV Protease InhibitorsPhase 35319
14Anti-Infective AgentsPhase 321402
15AntiemeticsPhase 33888
16Dexamethasone acetatePhase 320841177-87-3
17Angiogenesis Modulating AgentsPhase 34072
18Anti-Inflammatory AgentsPhase 310355
19Anti-Bacterial AgentsPhase 310884
20Antineoplastic Agents, HormonalPhase 35407
21Dexamethasone 21-phosphatePhase 32084
22BB 1101Phase 32084
23Autonomic AgentsPhase 39774
24
nivolumabapprovedPhase 1326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
25ImmunoglobulinsPhase 16045
26Antibodies, MonoclonalPhase 13795
27AntibodiesPhase 16045
28
Azacitidineapproved, investigational506320-67-29444
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
29Anesthetics9001
30Antimetabolites11774
31Antimetabolites, Antineoplastic7171

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 Syndrome26 24 HRAS
2 Myopathy, Congenital, with Excess of Muscle Spindles26

Anatomical Context for Costello Syndrome

About this section

MalaCards organs/tissues related to Costello Syndrome:

35
Heart, Skin, Brain, Tongue, Cerebellum, Pancreatic islet, Spinal cord

Animal Models for Costello Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Costello Syndrome:

40 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5KRAS, MAP2K1, MAP2K2, PTPN11
2MP:00020069.2HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
3MP:00053819.1KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
4MP:00053798.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
5MP:00107718.7HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
6MP:00053858.3HRAS, KRAS, MAP2K1, MAP2K2, MFAP2, PTPN11
7MP:00053918.3KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
8MP:00053828.0CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
9MP:00053787.9CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
10MP:00053907.3CHST11, HRAS, KRAS, MAP2K1, MAP2K2, MFAP2

Publications for Costello Syndrome

About this section

Articles related to Costello Syndrome:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome. (27705751)
2016
2
Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation. (26812928)
2016
3
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding. (26246091)
2015
4
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. (26190969)
2015
5
Human papilloma virus-infected genital warts in a girl with Costello syndrome. (25787333)
2015
6
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
7
Syndrome in question. Costello syndrome. (25387514)
2014
8
Decreased bone mineral density in Costello syndrome. (24246682)
2014
9
Craniofacial and dental development in Costello syndrome. (24668879)
2014
10
Cardiac events in Costello syndrome: One case and a review of the literature. (24719541)
2014
11
Behavioral phenotype in Costello syndrome with atypical mutation: A case report. (25367099)
2014
12
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
13
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
14
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory. (23918324)
2013
15
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
16
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history. (22528320)
2012
17
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. (22261753)
2012
18
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. (20658932)
2011
19
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
20
Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy. (20307337)
2010
21
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. (20979192)
2010
22
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. (19213030)
2009
23
Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome. (19288554)
2009
24
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. (18386799)
2008
25
Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome. (18203173)
2008
26
Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report. (17690078)
2007
27
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. (17366577)
2007
28
Rhythmic tongue movements during sleep: a peculiar parasomnia in Costello syndrome. (16250029)
2006
29
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. (16329078)
2006
30
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. (16372351)
2006
31
Tumor predisposition in Costello syndrome. (16010679)
2005
32
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. (15264285)
2004
33
Studies on the pathogenesis of Costello syndrome. (12676910)
2003
34
Concerning "Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol". (12698963)
2003
35
Costello syndrome: an overview. (12561057)
2003
36
Further delineation of the behavioral and neurologic features in Costello syndrome. (12605434)
2003
37
Costello syndrome and neurological abnormalities. (14608654)
2003
38
Recurrent transitional cell carcinoma in a child with the Costello syndrome. (12187253)
2002
39
Growth hormone deficiency in Costello syndrome: a possible explanation for the short stature. (11148542)
2001
40
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
41
Picture of the month. Costello syndrome. (10850515)
2000
42
Costello syndrome and rhabdomyosarcoma. (10424828)
1999
43
Costello syndrome with decreased glucose tolerance. (10523730)
1999
44
Costello syndrome. (9541110)
1998
45
Costello syndrome in two Brazilian children. (9475096)
1998
46
Life-threatening cardiac involvement throughout life in a case of Costello syndrome. (9001809)
1996
47
Elastic fiber degeneration in Costello syndrome. (8834040)
1996
48
Costello syndrome. (7722055)
1995
49
Hungarian case with Costello syndrome and translocation t(1,22) (7677162)
1995
50
Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. (7888135)
1994

Variations for Costello Syndrome

About this section

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

69 (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 19)
id Gene Variation Type Significance SNP ID Assembly Location
1HRASNM_005343.3(HRAS): c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp)duplicationPathogenicrs587777239GRCh38Chr 11, 533849: 533869
2TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)SNVLikely pathogenic, Pathogenicrs121964857GRCh37Chr 1, 201328373: 201328373
3HRASNM_005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4HRASNM_005343.3(HRAS): c.34G> A (p.Gly12Ser)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5HRASNM_005343.3(HRAS): c.35G> C (p.Gly12Ala)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
6HRASNM_005343.3(HRAS): c.38G> A (p.Gly13Asp)SNVPathogenicrs104894226GRCh37Chr 11, 534285: 534285
7HRASNM_005343.3(HRAS): c.350A> G (p.Lys117Arg)SNVPathogenicrs104894227GRCh37Chr 11, 533553: 533553
8HRASNM_005343.3(HRAS): c.37G> T (p.Gly13Cys)SNVPathogenicrs104894228GRCh37Chr 11, 534286: 534286
9HRASNM_005343.3(HRAS): c.436G> A (p.Ala146Thr)SNVPathogenicrs104894231GRCh37Chr 11, 533467: 533467
10HRASNM_005343.3(HRAS): c.64C> A (p.Gln22Lys)SNVLikely pathogenic, Pathogenicrs121917757GRCh37Chr 11, 534259: 534259
11HRASNM_176795.4(HRAS): c.173C> T (p.Thr58Ile)SNVPathogenicrs121917758GRCh37Chr 11, 533883: 533883
12HRASNM_005343.3(HRAS): c.437C> T (p.Ala146Val)SNVLikely pathogenic, Pathogenicrs121917759GRCh37Chr 11, 533466: 533466
13HRASNM_005343.3(HRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
14HRASNM_005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
15HRASNM_005343.3(HRAS): c.35_36delGCinsAA (p.Gly12Glu)indelLikely pathogenic, Pathogenicrs727503094GRCh37Chr 11, 534287: 534288
16HRASNM_005343.3(HRAS): c.175_176delGCinsCT (p.Ala59Leu)indelLikely pathogenicrs727504747GRCh37Chr 11, 533880: 533881
17HRASNM_005343.3(HRAS): c.110_111+1dupAGGduplicationPathogenicrs398122808GRCh37Chr 11, 534211: 534213
18HRASNM_005343.3(HRAS): c.108_110dupAGA (p.Glu37_Asp38insGlu)duplicationPathogenicrs398122809GRCh37Chr 11, 534213: 534215
19HRASNM_005343.3(HRAS): c.175G> A (p.Ala59Thr)SNVLikely pathogenic, 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 all 43)
idSuper pathwaysScoreTop Affiliating Genes
19.4HRAS, MAP2K1, MAP2K2
2
Show member pathways
9.0HRAS, MAP2K1, PTPN11, SOS1
38.9HRAS, MAP2K1, MAP2K2, SOS1
48.7HRAS, KRAS, MAP2K1, MAP2K2
58.7HRAS, KRAS, MAP2K1, MAP2K2
68.7HRAS, KRAS, MAP2K1, MAP2K2
78.7HRAS, KRAS, MAP2K1, MAP2K2
8
Show member pathways
8.7HRAS, KRAS, MAP2K1, MAP2K2
98.7HRAS, KRAS, MAP2K1, MAP2K2
10
Show member pathways
8.7HRAS, KRAS, MAP2K1, MAP2K2
11
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
128.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
138.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
14
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
158.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
16
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
17
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
18
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
19
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
20
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
218.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
22
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
238.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
24
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
25
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
26
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
27
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
28
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
29
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
30
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
317.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
32
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
337.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
34
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
35
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
36
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
37
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
387.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
39
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
40
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
41
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
42
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
43
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1

GO Terms for genes affiliated with Costello Syndrome

About this section

Cellular components related to Costello Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.2ELN, KRAS, MAP2K1, MAP2K2, PTPN11

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.4MAP2K1, MAP2K2
2proteolysis in other organismGO:003589710.4MAP2K1, MAP2K2
3regulation of Golgi inheritanceGO:009017010.4MAP2K1, MAP2K2
4regulation of stress-activated MAPK cascadeGO:003287210.4MAP2K1, MAP2K2
5Bergmann glial cell differentiationGO:006002010.4MAP2K1, PTPN11
6cellular senescenceGO:009039810.3HRAS, MAP2K1
7cerebellar cortex formationGO:002169710.3MAP2K1, PTPN11
8epithelial cell proliferation involved in lung morphogenesisGO:006050210.3MAP2K1, MAP2K2
9positive regulation of axonogenesisGO:005077210.3MAP2K1, MAP2K2
10regulation of axon regenerationGO:004867910.3MAP2K1, MAP2K2
11thyroid gland developmentGO:003087810.2MAP2K1, MAP2K2
12face developmentGO:006032410.2MAP2K1, MAP2K2
13positive regulation of protein serine/threonine kinase activityGO:007190210.1MAP2K1, MAP2K2
14ERK1 and ERK2 cascadeGO:007037110.1MAP2K1, MAP2K2
15trachea formationGO:006044010.1MAP2K1, MAP2K2
16neurotrophin TRK receptor signaling pathwayGO:004801110.1PTPN11, SOS1
17regulation of early endosome to late endosome transportGO:200064110.0MAP2K1, MAP2K2
18homeostasis of number of cells within a tissueGO:004887310.0KRAS, PTPN11
19negative regulation of gene expressionGO:00106299.7HRAS, MAP2K1, MAP2K2
20respiratory gaseous exchangeGO:00075859.6CHST11, ELN
21Fc-epsilon receptor signaling pathwayGO:00380959.5HRAS, KRAS, SOS1
22activation of MAPK activityGO:00001879.5MAP2K1, MAP2K2, PTPN11
23ERBB2 signaling pathwayGO:00381289.5HRAS, KRAS, SOS1
24heart developmentGO:00075079.4MAP2K1, MAP2K2, PTPN11
25regulation of long-term neuronal synaptic plasticityGO:00481699.2HRAS, KRAS
26Ras protein signal transductionGO:00072659.2HRAS, KRAS, SOS1
27epidermal growth factor receptor signaling pathwayGO:00071739.1HRAS, KRAS, PTPN11, SOS1
28positive regulation of ERK1 and ERK2 cascadeGO:00703749.0HRAS, MAP2K1, MAP2K2, PTPN11
29leukocyte migrationGO:00509009.0HRAS, KRAS, PTPN11, SOS1
30axon guidanceGO:00074119.0HRAS, KRAS, SOS1
31MAPK cascadeGO:00001658.5HRAS, KRAS, MAP2K1, MAP2K2, SOS1

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

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase activityGO:000470810.0MAP2K1, MAP2K2
2protein serine/threonine kinase activator activityGO:00435399.8MAP2K1, MAP2K2
3protein serine/threonine/tyrosine kinase activityGO:00047129.7MAP2K1, MAP2K2

Sources for Costello Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet