MCID: CST001
MIFTS: 69

Costello Syndrome malady

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

Aliases & Classifications for Costello Syndrome

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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

Summaries for Costello Syndrome

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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 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 Interleukin-11 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 hearing/vestibular/ear.

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

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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 & Phenotypes for Costello Syndrome

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Symptoms by clinical synopsis from OMIM:

218040

Clinical features from OMIM:

218040

Human phenotypes related to Costello Syndrome:

 64 54 (show all 107)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate64 hallmark (90%) HP:0000174
2 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
3 short neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000470
4 abnormality of dental enamel64 54 hallmark (90%) Frequent (79-30%) HP:0000682
5 acanthosis nigricans64 54 hallmark (90%) Very frequent (99-80%) HP:0000956
6 hyperkeratosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000962
7 cutis laxa64 hallmark (90%) HP:0000973
8 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
9 ventricular septal defect64 54 hallmark (90%) Very frequent (99-80%) HP:0001629
10 abnormality of the pulmonary valve64 hallmark (90%) HP:0001641
11 woolly hair64 54 hallmark (90%) Very frequent (99-80%) HP:0002224
12 delayed skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0002750
13 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
14 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
15 lack of skin elasticity64 54 hallmark (90%) Very frequent (99-80%) HP:0100679
16 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
17 abnormality of the tongue64 typical (50%) HP:0000157
18 thick lower lip vermilion64 54 typical (50%) Frequent (79-30%) HP:0000179
19 epicanthus64 54 typical (50%) Frequent (79-30%) HP:0000286
20 full cheeks64 54 typical (50%) Frequent (79-30%) HP:0000293
21 thickened nuchal skin fold64 54 typical (50%) Frequent (79-30%) HP:0000474
22 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
23 joint hypermobility64 typical (50%) HP:0001382
24 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
25 abnormality of the mitral valve64 typical (50%) HP:0001633
26 hypertrophic cardiomyopathy64 54 typical (50%) Frequent (79-30%) HP:0001639
27 hypoplastic toenails64 54 typical (50%) Frequent (79-30%) HP:0001800
28 cerebral cortical atrophy64 54 typical (50%) Frequent (79-30%) HP:0002120
29 abnormal dermatoglyphics64 54 typical (50%) Frequent (79-30%) HP:0007477
30 ulnar deviation of finger64 54 typical (50%) Frequent (79-30%) HP:0009465
31 abnormal tendon morphology64 typical (50%) HP:0100261
32 cognitive impairment64 typical (50%) HP:0100543
33 decreased corneal thickness64 typical (50%) HP:0100689
34 verrucae64 typical (50%) HP:0200043
35 coarse facial features64 54 occasional (7.5%) Occasional (29-5%) HP:0000280
36 low-set, posteriorly rotated ears64 54 occasional (7.5%) Occasional (29-5%) HP:0000368
37 generalized hyperpigmentation64 54 occasional (7.5%) Occasional (29-5%) HP:0007440
38 feeding difficulties in infancy64 54 occasional (7.5%) Very frequent (99-80%) HP:0008872
39 large earlobe64 54 occasional (7.5%) Occasional (29-5%) HP:0009748
40 large face64 54 occasional (7.5%) Occasional (29-5%) HP:0100729
41 renal insufficiency64 rare (5%) HP:0000083
42 macroglossia64 54 Frequent (79-30%) HP:0000158
43 high palate64 HP:0000218
44 hydrocephalus64 HP:0000238
45 wide anterior fontanel64 HP:0000260
46 pointed chin64 HP:0000307
47 hypertelorism64 HP:0000316
48 micrognathia64 HP:0000347
49 posteriorly rotated ears64 HP:0000358
50 low-set ears64 HP:0000369
51 anteverted nares64 HP:0000463
52 webbed neck64 HP:0000465
53 downslanted palpebral fissures64 HP:0000494
54 ptosis64 HP:0000508
55 pectus carinatum64 HP:0000768
56 hyperpigmentation of the skin64 HP:0000953
57 hyperextensibility of the finger joints64 HP:0001187
58 intellectual disability64 54 Frequent (79-30%) HP:0001249
59 global developmental delay64 HP:0001263
60 failure to thrive64 HP:0001508
61 overgrowth64 HP:0001548
62 barrel-shaped chest64 HP:0001552
63 concave nail64 54 Very frequent (99-80%) HP:0001598
64 hoarse voice64 HP:0001609
65 premature birth64 HP:0001622
66 atria septal defect64 HP:0001631
67 mitral valve prolapse64 54 Frequent (79-30%) HP:0001634
68 pulmonic stenosis64 54 Very frequent (99-80%) HP:0001642
69 talipes equinovarus64 HP:0001762
70 achilles tendon contracture64 HP:0001771
71 fragile nails64 HP:0001808
72 deep-set nails64 54 Very frequent (99-80%) HP:0001814
73 thin nail64 HP:0001816
74 deep plantar creases64 HP:0001869
75 hypoglycemia64 HP:0001943
76 pyloric stenosis64 HP:0002021
77 poor suck64 54 Occasional (29-5%) HP:0002033
78 cerebral atrophy64 HP:0002059
79 pneumothorax64 HP:0002107
80 ventriculomegaly64 HP:0002119
81 curly hair64 HP:0002212
82 tracheomalacia64 HP:0002779
83 bronchomalacia64 HP:0002780
84 rhabdomyosarcoma64 HP:0002859
85 bladder carcinoma64 HP:0002862
86 obstructive sleep apnea64 HP:0002870
87 respiratory failure64 HP:0002878
88 limited elbow movement64 HP:0002996
89 nevus64 HP:0003764
90 redundant neck skin64 HP:0005989
91 deep palmar crease64 HP:0006191
92 arnold-chiari type i malformation64 HP:0007099
93 sparse hair64 HP:0008070
94 vestibular schwannoma64 HP:0009588
95 arrhythmia64 HP:0011675
96 enlarged cerebellum64 HP:0012081
97 abnormality of the teeth54 Frequent (79-30%)
98 narrow palate54 Very frequent (99-80%)
99 keratoconus54 Frequent (79-30%)
100 abnormality of the skin54 Very frequent (99-80%)
101 failure to thrive in infancy54 Very frequent (99-80%)
102 redundant skin54 Very frequent (99-80%)
103 abnormality of the hair54 Occasional (29-5%)
104 gastroesophageal reflux54 Frequent (79-30%)
105 thickened achilles tendon54 Frequent (79-30%)
106 joint hyperflexibility54 Frequent (79-30%)
107 papilloma54 Frequent (79-30%)

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: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

Drugs & Therapeutics for Costello Syndrome

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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

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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

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MalaCards organs/tissues related to Costello Syndrome:

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

Publications for Costello Syndrome

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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
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure. (26778095)
2016
4
Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome. (26916728)
2016
5
Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. (26740656)
2016
6
Respiratory system involvement in Costello syndrome. (27102959)
2016
7
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. (27195699)
2016
8
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. (28027064)
2016
9
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. (28008647)
2016
10
EP05.10: Doppler assessment of hypertrophic cardiomyopathy in a case of Costello syndrome. (27647476)
2016
11
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding. (26246091)
2015
12
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. (26190969)
2015
13
Human papilloma virus-infected genital warts in a girl with Costello syndrome. (25787333)
2015
14
Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient. (25677562)
2015
15
Costello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment. (25815234)
2015
16
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
17
Anaesthetic Management in Costello Syndrome. (27366541)
2015
18
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. (26138095)
2015
19
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
20
Dysregulation of astrocyte extracellular signaling in Costello syndrome. (25947161)
2015
21
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
22
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
23
Syndrome in question. Costello syndrome. (25387514)
2014
24
Decreased bone mineral density in Costello syndrome. (24246682)
2014
25
Craniofacial and dental development in Costello syndrome. (24668879)
2014
26
Cardiac events in Costello syndrome: One case and a review of the literature. (24719541)
2014
27
Behavioral phenotype in Costello syndrome with atypical mutation: A case report. (25367099)
2014
28
Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease. (25133308)
2014
29
Anesthetic management of Costello syndrome: a case report. (24902452)
2014
30
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. (24057668)
2014
31
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
32
Growth hormone replacement therapy in Costello syndrome. (25459872)
2014
33
Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome. (24637993)
2014
34
Early Postnatal Diagnosis of Costello Syndrome. (25062109)
2014
35
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
36
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
37
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory. (23918324)
2013
38
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
39
Assessing genotype-phenotype correlation in Costello syndrome using a severity score. (23429430)
2013
40
'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome. (23106483)
2013
41
Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography. (23751039)
2013
42
Keratoconus in Costello syndrome. (23494969)
2013
43
Two new cases with Costello syndrome. (24021445)
2013
44
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome. (24169525)
2013
45
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. (24224811)
2013
46
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history. (22528320)
2012
47
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. (22261753)
2012
48
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. (22926243)
2012
49
Normative growth charts for individuals with Costello syndrome. (22887473)
2012
50
Dystonia in Costello syndrome. (22510203)
2012

Variations for Costello Syndrome

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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 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

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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 Suite gene sharing:

(show top 50)    (show all 138)
idSuper pathwaysScoreTop Affiliating Genes
19.8HRAS, PTPN11
29.7HRAS, SOS1
39.7MAP2K1, MAP2K2
49.7MAP2K1, MAP2K2
59.7MAP2K1, MAP2K2
6
Show member pathways
9.7MAP2K1, MAP2K2
79.7MAP2K1, MAP2K2
89.7MAP2K1, MAP2K2
99.7MAP2K1, MAP2K2
109.7MAP2K1, MAP2K2
119.7PTPN11, SOS1
129.7PTPN11, SOS1
13
Show member pathways
9.5HRAS, KRAS
149.5HRAS, KRAS
159.5HRAS, KRAS
169.5HRAS, KRAS
179.4KRAS, SOS1
189.4HRAS, MAP2K1, MAP2K2
199.4HRAS, MAP2K1, MAP2K2
20
Show member pathways
9.4HRAS, 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
9.3MAP2K1, MAP2K2, PTPN11
279.3MAP2K1, MAP2K2, PTPN11
28
Show member pathways
9.3HRAS, MAP2K1, SOS1
29
Show member pathways
9.3MAP2K1, PTPN11, SOS1
309.2MAP2K1, MAP2K2, SOS1
319.2MAP2K1, MAP2K2, SOS1
329.2HRAS, KRAS, PTPN11
33
Show member pathways
9.1HRAS, KRAS, SOS1
34
Show member pathways
9.1HRAS, KRAS, SOS1
35
Show member pathways
9.1HRAS, KRAS, SOS1
36
Show member pathways
9.1HRAS, KRAS, SOS1
379.1HRAS, KRAS, SOS1
38
Show member pathways
9.1HRAS, KRAS, SOS1
39
Show member pathways
9.1KRAS, MAP2K1, MAP2K2
409.1KRAS, MAP2K1, MAP2K2
419.0HRAS, MAP2K1, MAP2K2, PTPN11
429.0KRAS, MAP2K1, SOS1
439.0KRAS, MAP2K1, SOS1
44
Show member pathways
9.0HRAS, MAP2K1, PTPN11, SOS1
45
Show member pathways
8.9HRAS, MAP2K1, MAP2K2, SOS1
46
Show member pathways
8.9HRAS, MAP2K1, MAP2K2, SOS1
47
Show member pathways
8.9HRAS, MAP2K1, MAP2K2, SOS1
48
Show member pathways
8.9HRAS, MAP2K1, MAP2K2, SOS1
49
Show member pathways
8.9HRAS, MAP2K1, MAP2K2, SOS1
50
Show member pathways
8.9HRAS, MAP2K1, MAP2K2, SOS1

GO Terms for genes affiliated with Costello Syndrome

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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
1cellular senescenceGO:009039810.5HRAS, MAP2K1
2Bergmann glial cell differentiationGO:006002010.5MAP2K1, PTPN11
3cerebellar cortex formationGO:002169710.5MAP2K1, PTPN11
4epithelial cell proliferation involved in lung morphogenesisGO:006050210.4MAP2K1, MAP2K2
5ERK1 and ERK2 cascadeGO:007037110.4MAP2K1, MAP2K2
6face developmentGO:006032410.4MAP2K1, MAP2K2
7positive regulation of axonogenesisGO:005077210.3MAP2K1, MAP2K2
8neurotrophin TRK receptor signaling pathwayGO:004801110.3PTPN11, SOS1
9positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.3MAP2K1, MAP2K2
10positive regulation of protein serine/threonine kinase activityGO:007190210.3MAP2K1, MAP2K2
11proteolysis in other organismGO:003589710.3MAP2K1, MAP2K2
12regulation of axon regenerationGO:004867910.2MAP2K1, MAP2K2
13regulation of early endosome to late endosome transportGO:200064110.2MAP2K1, MAP2K2
14regulation of Golgi inheritanceGO:009017010.2MAP2K1, MAP2K2
15homeostasis of number of cells within a tissueGO:004887310.2KRAS, PTPN11
16regulation of stress-activated MAPK cascadeGO:003287210.2MAP2K1, MAP2K2
17activation of MAPK activityGO:000018710.1MAP2K1, MAP2K2, PTPN11
18heart developmentGO:000750710.0MAP2K1, MAP2K2, PTPN11
19regulation of long-term neuronal synaptic plasticityGO:004816910.0HRAS, KRAS
20negative regulation of gene expressionGO:001062910.0HRAS, MAP2K1, MAP2K2
21thyroid gland developmentGO:00308789.8MAP2K1, MAP2K2
22axon guidanceGO:00074119.8HRAS, KRAS, SOS1
23ERBB2 signaling pathwayGO:00381289.8HRAS, KRAS, SOS1
24Fc-epsilon receptor signaling pathwayGO:00380959.8HRAS, KRAS, SOS1
25trachea formationGO:00604409.7MAP2K1, MAP2K2
26positive regulation of ERK1 and ERK2 cascadeGO:00703749.6HRAS, MAP2K1, MAP2K2, PTPN11
27Ras protein signal transductionGO:00072659.6HRAS, KRAS, SOS1
28respiratory gaseous exchangeGO:00075859.5CHST11, ELN
29epidermal growth factor receptor signaling pathwayGO:00071739.5HRAS, KRAS, PTPN11, SOS1
30leukocyte migrationGO:00509009.4HRAS, KRAS, PTPN11, SOS1
31MAPK 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:000470810.1MAP2K1, MAP2K2
2protein serine/threonine kinase activator activityGO:004353910.1MAP2K1, MAP2K2
3protein serine/threonine/tyrosine kinase activityGO:00047129.7MAP2K1, 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