MCID: CST001
MIFTS: 64

Costello Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Costello Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 11diseasecard, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Costello Syndrome:

Name: Costello Syndrome 49 10 21 45 22 23 12 51 24 65 36 67
Faciocutaneoskeletal Syndrome 10 45 23 51 67
Fcs Syndrome 10 45 23 51 67
Congenital Myopathy with Excess of Muscle Spindles 49 11 67
Myopathy, Congenital, with Excess of Muscle Spindles 65
 
Intellectual Disability - Nasal Papillomata 51
Cstlo 67
Cmems 67
Fcss 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
costello syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Japan); Age of onset: Antenatal,Neonatal


External Ids:

OMIM49 218040
Disease Ontology10 DOID:0050469
MeSH36 D056685
Orphanet51 3071
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D056685
UMLS via Orphanet66 C0587248
ICD1027 G71.2

Summaries for Costello Syndrome

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NIH Rare Diseases:45 Costello syndrome is characterized by delayed development and intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. heart abnormalities are common, including an unusually fast heartbeat (tachycardia), structural heart defects, and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). beginning in early childhood, people with costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. costello syndrome is caused by mutations in the hras gene. it is considered an autosomal dominant condition, but almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. the signs and symptoms of costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (cfc) syndrome and noonan syndrome. while the three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms, it can be difficult to tell them apart in infancy. last updated: 5/24/2011

MalaCards based summary: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to cardiofaciocutaneous syndrome and rhabdomyosarcoma, and has symptoms including abnormality of the palate, macrocephaly and short neck. An important gene associated with Costello Syndrome is HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Development_TGF-beta receptor signaling. Affiliated tissues include skin, heart and brain, and related mouse phenotypes are craniofacial and normal.

Genetics Home Reference:23 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:49 Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse... (218040) more...

UniProtKB/Swiss-Prot:67 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:68 Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder... more...

GeneReviews summary for costello

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 95)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome29.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
2rhabdomyosarcoma10.5
3hypoglycemia10.4
4cutis laxa10.4
5embryonal rhabdomyosarcoma10.4
6pancreatitis10.4
7cardiomyopathy10.4
8hyperinsulinemic hypoglycemia10.3
9hypertrophic cardiomyopathy10.3
10growth hormone deficiency10.3
11beckwith-wiedemann syndrome10.2
12polyhydramnios10.2
13neurofibromatosis10.2
14papilloma10.2
15scoliosis10.2
16anus adenocarcinoma10.2MAP2K1, MAP2K2
17watson syndrome10.2MAP2K2, PTPN11
18c8 deficiency, type i10.2MAP2K1, MAP2K2
19tetrasomy 12p10.1HRAS, KRAS
20sinoatrial node disease10.1HRAS, KRAS
21mediastinum leiomyoma10.1HRAS, KRAS
22epidermal nevus, somatic10.1HRAS, KRAS
23adult central nervous system germinoma10.1HRAS, KRAS
24schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.1HRAS, KRAS
25sublingual gland adenoid cystic carcinoma10.1HRAS, KRAS
26hepatic flexure cancer10.1HRAS, KRAS
27bilateral hypoactive labyrinth10.1HRAS, KRAS
28kidney hemangiopericytoma10.1HRAS, KRAS
29ego-dystonic sexual orientation10.1HRAS, KRAS
30vulval paget's disease10.1HRAS, KRAS
31scrotum basal cell carcinoma10.1HRAS, KRAS
32ovarian cystadenoma10.1HRAS, KRAS
33toxic encephalopathy10.1HRAS, KRAS
34radiculopathy10.1HRAS, KRAS
35amyloidosis10.1HRAS, KRAS
36duodenum adenoma10.1HRAS, KRAS
37vaginal yolk sac tumor10.1HRAS, KRAS
38pneumonic plague10.1HRAS, KRAS
39nontoxic goiter10.1HRAS, KRAS
40idiopathic scoliosis10.1HRAS, KRAS
41corticosterone methyloxidase deficiency10.1HRAS, KRAS
42duodenal disease10.1HRAS, KRAS
43cutis laxa, ad10.1
44sialuria10.1
45neurofibromatosis, type 110.1
46neurofibromatosis, type 210.1
47fragile x syndrome10.1
48pulmonary hypertension10.1
49acne10.1
50cataract10.1

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



Diseases related to costello syndrome

Symptoms for Costello Syndrome

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Symptoms by clinical synopsis from OMIM:

218040

Clinical features from OMIM:

218040

Symptoms:

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

HPO human phenotypes related to Costello Syndrome:

(show all 111)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 macrocephaly hallmark (90%) HP:0000256
3 short neck hallmark (90%) HP:0000470
4 abnormality of dental enamel hallmark (90%) HP:0000682
5 acanthosis nigricans hallmark (90%) HP:0000956
6 hyperkeratosis hallmark (90%) HP:0000962
7 cutis laxa hallmark (90%) HP:0000973
8 abnormality of the fingernails hallmark (90%) HP:0001231
9 ventricular septal defect hallmark (90%) HP:0001629
10 abnormality of the pulmonary valve hallmark (90%) HP:0001641
11 woolly hair hallmark (90%) HP:0002224
12 delayed skeletal maturation hallmark (90%) HP:0002750
13 short stature hallmark (90%) HP:0004322
14 depressed nasal bridge hallmark (90%) HP:0005280
15 lack of skin elasticity hallmark (90%) HP:0100679
16 cryptorchidism typical (50%) HP:0000028
17 abnormality of the tongue typical (50%) HP:0000157
18 thick lower lip vermilion typical (50%) HP:0000179
19 epicanthus typical (50%) HP:0000286
20 full cheeks typical (50%) HP:0000293
21 thickened nuchal skin fold typical (50%) HP:0000474
22 strabismus typical (50%) HP:0000486
23 joint hypermobility typical (50%) HP:0001382
24 polyhydramnios typical (50%) HP:0001561
25 abnormality of the mitral valve typical (50%) HP:0001633
26 hypertrophic cardiomyopathy typical (50%) HP:0001639
27 hypoplastic toenails typical (50%) HP:0001800
28 cerebral cortical atrophy typical (50%) HP:0002120
29 abnormal dermatoglyphics typical (50%) HP:0007477
30 ulnar deviation of finger typical (50%) HP:0009465
31 abnormal tendon morphology typical (50%) HP:0100261
32 cognitive impairment typical (50%) HP:0100543
33 decreased corneal thickness typical (50%) HP:0100689
34 verrucae typical (50%) HP:0200043
35 coarse facial features occasional (7.5%) HP:0000280
36 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
37 generalized hyperpigmentation occasional (7.5%) HP:0007440
38 feeding difficulties in infancy occasional (7.5%) HP:0008872
39 large earlobe occasional (7.5%) HP:0009748
40 large face occasional (7.5%) HP:0100729
41 renal insufficiency rare (5%) HP:0000083
42 autosomal dominant inheritance HP:0000006
43 macroglossia HP:0000158
44 thick lower lip vermilion HP:0000179
45 high palate HP:0000218
46 hydrocephalus HP:0000238
47 wide anterior fontanel HP:0000260
48 coarse facial features HP:0000280
49 epicanthus HP:0000286
50 full cheeks HP:0000293
51 pointed chin HP:0000307
52 hypertelorism HP:0000316
53 micrognathia HP:0000347
54 posteriorly rotated ears HP:0000358
55 low-set ears HP:0000369
56 anteverted nares HP:0000463
57 webbed neck HP:0000465
58 short neck HP:0000470
59 strabismus HP:0000486
60 downslanted palpebral fissures HP:0000494
61 ptosis HP:0000508
62 pectus carinatum HP:0000768
63 hyperpigmentation of the skin HP:0000953
64 acanthosis nigricans HP:0000956
65 hyperextensibility of the finger joints HP:0001187
66 intellectual disability HP:0001249
67 global developmental delay HP:0001263
68 failure to thrive HP:0001508
69 overgrowth HP:0001548
70 barrel-shaped chest HP:0001552
71 polyhydramnios HP:0001561
72 concave nail HP:0001598
73 hoarse voice HP:0001609
74 premature birth HP:0001622
75 ventricular septal defect HP:0001629
76 atria septal defect HP:0001631
77 mitral valve prolapse HP:0001634
78 hypertrophic cardiomyopathy HP:0001639
79 pulmonic stenosis HP:0001642
80 sudden death HP:0001699
81 talipes equinovarus HP:0001762
82 achilles tendon contracture HP:0001771
83 fragile nails HP:0001808
84 deep-set nails HP:0001814
85 thin nail HP:0001816
86 deep plantar creases HP:0001869
87 hypoglycemia HP:0001943
88 pyloric stenosis HP:0002021
89 poor suck HP:0002033
90 cerebral atrophy HP:0002059
91 pneumothorax HP:0002107
92 ventriculomegaly HP:0002119
93 curly hair HP:0002212
94 tracheomalacia HP:0002779
95 bronchomalacia HP:0002780
96 rhabdomyosarcoma HP:0002859
97 bladder carcinoma HP:0002862
98 obstructive sleep apnea HP:0002870
99 respiratory failure HP:0002878
100 limited elbow movement HP:0002996
101 sporadic HP:0003745
102 nevus HP:0003764
103 short stature HP:0004322
104 depressed nasal bridge HP:0005280
105 redundant neck skin HP:0005989
106 deep palmar crease HP:0006191
107 arnold-chiari type i malformation HP:0007099
108 sparse hair HP:0008070
109 vestibular schwannoma HP:0009588
110 arrhythmia HP:0011675
111 enlarged cerebellum HP:0012081

Drugs & Therapeutics for Costello Syndrome

About this section

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dexamethasoneapproved, investigationalPhase 3180650-02-25743
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
Baycadron
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 acetate
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone sodium phosphate
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamethsone
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
Ozurdex
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
2
LenalidomideapprovedPhase 3652191732-72-6216326
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
3
PrednisoneapprovedPhase 3120853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
4
Bortezomibapproved, investigational, experimentalPhase 3758179324-69-7387447, 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
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-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
5Dexamethasone acetatePhase 318061177-87-3
6beta-endorphinPhase 389
7BB 1101Phase 31848
8Dexamethasone 21-phosphatePhase 31806
9EndorphinsPhase 347
10Adrenocorticotropic HormonePhase 3121
11
Azacitidineapproved, investigational344320-67-29444
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic SyndromeRecruitingNCT02132195Phase 3
2Randomized Trial of Lenalidomide, Bortezomib, Dexamethasone vs High-Dose Treatment With SCT in MM Patients up to Age 65RecruitingNCT01208662Phase 3
3Ipilimumab or Nivolumab in Treating Patients With Relapsed Hematologic Malignancies After Donor Stem Cell TransplantRecruitingNCT01822509Phase 1
4Evaluation 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 Syndrome22 24 HRAS

Anatomical Context for Costello Syndrome

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MalaCards organs/tissues related to Costello Syndrome:

33
Skin, Heart, Brain, Tongue, Testes, Bone, Cerebellum

Animal Models for Costello Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Costello Syndrome:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
2MP:00028738.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
3MP:00020068.3HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
4MP:00053818.2KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
5MP:00053918.2KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
6MP:00053798.1HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
7MP:00107717.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
8MP:00053907.6ELN, HRAS, MAP2K1, MAP2K2, MFAP2, PTPN11
9MP:00107687.2ELN, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
10MP:00053857.2ELN, HRAS, KRAS, MAP2K1, MFAP2, PTPN11
11MP:00053766.4ELN, HRAS, KRAS, MAP2K1, MAP2K2, MFAP2

Publications for Costello Syndrome

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Articles related to Costello Syndrome:

(show top 50)    (show all 204)
idTitleAuthorsYear
1
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. (26138095)
2015
2
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding. (26246091)
2015
3
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. (26190969)
2015
4
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
5
Syndrome in question. Costello syndrome. (25387514)
2014
6
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. (24057668)
2014
7
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
8
Decreased bone mineral density in Costello syndrome. (24246682)
2014
9
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
10
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
11
Two new cases with Costello syndrome. (24021445)
2013
12
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
13
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. (19382114)
2009
14
Germline expression of H-Ras(G12V) causes neurological deficits associated to Costello syndrome. (18823404)
2009
15
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. (19213030)
2009
16
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. (19919001)
2009
17
Clarification of previously reported Costello syndrome patients. (18302240)
2008
18
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. (18386799)
2008
19
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? (18247425)
2008
20
A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. (18483625)
2008
21
Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome. (18203173)
2008
22
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. (17704260)
2007
23
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. (17551924)
2007
24
Costello syndrome. (18032860)
2007
25
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. (17164262)
2007
26
Somatic mosaicism for an HRAS mutation causes Costello syndrome. (16969868)
2006
27
Obstructive sleep apnea in Costello syndrome. (16419102)
2006
28
Costello syndrome and hyperinsulinemic hypoglycemia. (16278907)
2005
29
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. (15264285)
2004
30
Is growth hormone treatment beneficial or harmful in Costello syndrome? (12807973)
2003
31
What syndrome is this? Costello syndrome. (14521568)
2003
32
Studies on the pathogenesis of Costello syndrome. (12676910)
2003
33
Anaesthetic implications of Costello syndrome. (12641690)
2003
34
Anaesthesiological considerations in Costello syndrome. (11982853)
2002
35
A case of Costello syndrome and glycogen storage disease type III. (11836377)
2002
36
Growth hormone deficiency in Costello syndrome: a possible explanation for the short stature. (11148542)
2001
37
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. (10712202)
2000
38
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (10664222)
2000
39
Picture of the month. Costello syndrome. (10850515)
2000
40
Second case of bladder carcinoma in a patient with Costello syndrome. (10678668)
2000
41
Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts. (11146354)
2000
42
Costello syndrome. (9541110)
1998
43
Life-threatening cardiac involvement throughout life in a case of Costello syndrome. (9001809)
1996
44
Costello syndrome. (7722055)
1995
45
Costello syndrome: the natural history of a true postnatal growth retardation syndrome. (7546454)
1995
46
Genetics of the Costello syndrome. (7528974)
1994
47
A Japanese patient with the Costello syndrome. (8168845)
1994
48
Cutis laxa: a feature of Costello syndrome. (7512146)
1994
49
Cutis laxa and the Costello syndrome. (8411045)
1993
50
Report on two patients with Costello syndrome and sialuria. (8291534)
1993

Variations for Costello Syndrome

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

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1HRASp.Gly12ValVAR_006836
2HRASp.Gly12SerVAR_006837
3HRASp.Gly12AlaVAR_026106
4HRASp.Gly13CysVAR_026107
5HRASp.Gly13AspVAR_026108
6HRASp.Gly12CysVAR_045975
7HRASp.Gly12GluVAR_045976
8HRASp.Gln22LysVAR_045977
9HRASp.Thr58IleVAR_045978
10HRASp.Glu63LysVAR_045980
11HRASp.Lys117ArgVAR_045981
12HRASp.Ala146ThrVAR_045982
13HRASp.Ala146ValVAR_045983
14HRASp.Gly12AspVAR_068816

Clinvar genetic disease variations for Costello Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005343.2(HRAS): c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp)duplicationPathogenicrs587777239GRCh38Chr 11, 533849: 533869
2TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121964857GRCh37Chr 1, 201328373: 201328373
3NM_005343.2(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4NM_005343.2(HRAS): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5NM_005343.2(HRAS): c.35G> C (p.Gly12Ala)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
6NM_005343.2(HRAS): c.38G> A (p.Gly13Asp)single nucleotide variantPathogenicrs104894226GRCh37Chr 11, 534285: 534285
7NM_005343.2(HRAS): c.350A> G (p.Lys117Arg)single nucleotide variantPathogenicrs104894227GRCh37Chr 11, 533553: 533553
8NM_005343.2(HRAS): c.37G> T (p.Gly13Cys)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
9NM_005343.2(HRAS): c.436G> A (p.Ala146Thr)single nucleotide variantPathogenicrs104894231GRCh37Chr 11, 533467: 533467
10NM_005343.2(HRAS): c.64C> A (p.Gln22Lys)single nucleotide variantLikely pathogenic, Pathogenicrs121917757GRCh37Chr 11, 534259: 534259
11NM_176795.3(HRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs121917758GRCh37Chr 11, 533883: 533883
12NM_005343.2(HRAS): c.437C> T (p.Ala146Val)single nucleotide variantLikely pathogenic, Pathogenicrs121917759GRCh37Chr 11, 533466: 533466
13NM_005343.2(HRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
14NM_005343.2(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
15NM_005343.2(HRAS): c.35_36delGCinsAA (p.Gly12Glu)indelLikely pathogenicrs727503094GRCh37Chr 11, 534287: 534288
16NM_005343.2(HRAS): c.175_176delGCinsCT (p.Ala59Leu)indelLikely pathogenicrs727504747GRCh37Chr 11, 533880: 533881
17NM_005343.2(HRAS): c.110_111+1dupAGGduplicationPathogenicrs398122808GRCh37Chr 11, 534211: 534213
18NM_005343.2(HRAS): c.108_110dupAGA (p.Glu37_Asp38insGlu)duplicationPathogenicrs398122809GRCh37Chr 11, 534213: 534215
19NM_005343.2(HRAS): c.175G> A (p.Ala59Thr)single nucleotide variantLikely pathogenic, Pathogenicrs727503093GRCh37Chr 11, 533881: 533881

Cosmic variations for Costello Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1483HRASskin,hand,other,wart3
2484HRASskin,hand,other,wart3

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 147)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8HRAS, MAP2K1, PTPN11, SOS1
28.7HRAS, MAP2K1, MAP2K2, SOS1
38.5HRAS, KRAS, MAP2K2, PTPN11
48.4HRAS, KRAS, MAP2K1, MAP2K2
5
VEGF Pathway (Tocris)
Show member pathways
8.4HRAS, KRAS, MAP2K1, MAP2K2
68.4HRAS, KRAS, MAP2K1, MAP2K2
7
Show member pathways
8.4HRAS, KRAS, MAP2K1, MAP2K2
88.4HRAS, KRAS, MAP2K1, MAP2K2
98.4HRAS, KRAS, MAP2K1, MAP2K2
108.4HRAS, KRAS, MAP2K1, MAP2K2
11
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
12
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
13
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
148.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
158.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
16
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
178.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
18
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
198.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
208.3KRAS, MAP2K1, MAP2K2, SOS1
218.0HRAS, KRAS, MAP2K1, PTPN11, SOS1
22
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
23
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
247.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
25
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
26
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
27
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
28
VEGF Pathway (Qiagen)
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
297.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
30
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
317.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
327.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
33
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
34
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
35
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
36
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
37
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
387.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
397.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
40
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
41
B cell receptor signaling pathway (KEGG)
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
42
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
43
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
447.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
45
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
46
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
47
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
48
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
49
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
50
Show member pathways
7.5HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, 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:00057397.8ELN, KRAS, MAP2K1, MAP2K2, PTPN11
2intracellularGO:00056227.6HRAS, KRAS, MAP2K1, MAP2K2, SOS1

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1trachea formationGO:006044010.3MAP2K1, MAP2K2
2epithelial cell proliferation involved in lung morphogenesisGO:006050210.3MAP2K1, MAP2K2
3regulation of Golgi inheritanceGO:009017010.3MAP2K1, MAP2K2
4regulation of stress-activated MAPK cascadeGO:003287210.3MAP2K1, MAP2K2
5cellular senescenceGO:009039810.3HRAS, MAP2K1
6platelet formationGO:003022010.3MFAP2, PTPN11
7regulation of axon regenerationGO:004867910.3MAP2K1, MAP2K2
8positive regulation of axonogenesisGO:005077210.3MAP2K1, MAP2K2
9regulation of early endosome to late endosome transportGO:200064110.3MAP2K1, MAP2K2
10positive regulation of Ras protein signal transductionGO:004657910.3HRAS, MAP2K1
11lung morphogenesisGO:006042510.3MAP2K1, MAP2K2
12ERK1 and ERK2 cascadeGO:007037110.2MAP2K1, MAP2K2
13positive regulation of protein serine/threonine kinase activityGO:007190210.1MAP2K1, MAP2K2
14social behaviorGO:00351769.8HRAS, KRAS
15negative regulation of gene expressionGO:00106299.8HRAS, MAP2K1, MAP2K2
16activation of MAPK activityGO:00001879.6MAP2K1, MAP2K2, PTPN11
17positive regulation of gene expressionGO:00106289.2HRAS, KRAS, MAP2K1
18leukocyte migrationGO:00509008.9HRAS, KRAS, PTPN11, SOS1
19MAPK cascadeGO:00001658.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
20activation of MAPKK activityGO:00001868.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
21Ras protein signal transductionGO:00072658.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
22blood coagulationGO:00075968.1HRAS, KRAS, PTPN11, SOS1
23vascular endothelial growth factor receptor signaling pathwayGO:00480108.0HRAS, KRAS, MAP2K1, MAP2K2, SOS1
24insulin receptor signaling pathwayGO:00082867.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
25small GTPase mediated signal transductionGO:00072647.9HRAS, KRAS, MAP2K1, MAP2K2, SOS1
26fibroblast growth factor receptor signaling pathwayGO:00085437.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
27Fc-epsilon receptor signaling pathwayGO:00380957.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
28neurotrophin TRK receptor signaling pathwayGO:00480117.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
29epidermal growth factor receptor signaling pathwayGO:00071737.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
30axon guidanceGO:00074117.7HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
31innate immune responseGO:00450877.7HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1

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

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase activityGO:00047089.9MAP2K1, MAP2K2
2protein serine/threonine kinase activator activityGO:00435399.7MAP2K1, MAP2K2
3protein serine/threonine/tyrosine kinase activityGO:00047129.6MAP2K1, MAP2K2

Sources for Costello Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet