MCID: CST001
MIFTS: 69

Costello Syndrome malady

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

Aliases & Classifications for Costello Syndrome

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Aliases & Descriptions for Costello Syndrome:

Name: Costello Syndrome 49 10 21 45 22 23 12 51 67 36 24 65
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
Cmems 67
Cstlo 67
Fcss 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
costello syndrome:
Inheritance: sporadic, autosomal dominant inheritance
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM49 218040
Disease Ontology10 DOID:0050469
MeSH36 D056685
NCIt42 C84652
Orphanet51 3071
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D056685
UMLS via Orphanet66 C0587248
ICD1027 G71.2
UMLS65 C0587248, C1968782

Summaries for Costello Syndrome

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NIH Rare Diseases:45 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 are at an increased risk of developing certain cancerous and noncancerous tumors. costello syndrome is caused by changes (mutations) in the hras gene. it is considered an autosomal dominant condition; however, almost all reported 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. the signs and symptoms of costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (cfc) syndrome and noonan syndrome. last updated: 3/9/2016

MalaCards based summary: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to cardiofaciocutaneous syndrome and pineal region germinoma, and has symptoms including lack of skin elasticity, depressed nasal bridge and short stature. An important gene associated with Costello Syndrome is HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog), and among its related pathways are Development_TGF-beta receptor signaling and Bladder cancer. Affiliated tissues include skin, heart and brain, and related mouse phenotypes are tumorigenesis and hearing/vestibular/ear.

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.

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...

Wikipedia:68 Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder... more...

GeneReviews summary 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome10.6
2pineal region germinoma10.4MAP2K1, MAP2K2
3tetrasomy 12p10.4HRAS, KRAS
4sigmoid disease10.4HRAS, KRAS
5diabetic encephalopathy10.4HRAS, KRAS
6epidermal nevus, somatic10.4HRAS, KRAS
7chronic inflammatory demyelinating polyradiculoneuropathy10.4HRAS, KRAS
8schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.4HRAS, KRAS
9mucosal melanoma10.4HRAS, KRAS
10intracystic papillary adenoma10.4HRAS, KRAS
11eccrine papillary adenocarcinoma10.4HRAS, KRAS
12erythrasma10.4HRAS, KRAS
13precursor lymphoblastic lymphoma/leukemia10.4HRAS, KRAS
14ovarian serous cystadenocarcinoma10.4HRAS, KRAS
15c8 deficiency, type i10.4MAP2K1, MAP2K2
16sweat gland cancer10.4HRAS, KRAS
17anterior horn cell disease10.4HRAS, KRAS
18ovarian mucinous adenocarcinoma10.4HRAS, KRAS
19apocrine adenocarcinoma10.4HRAS, KRAS
20migraine with aura10.4HRAS, KRAS
21malignant giant cell tumor of soft parts10.4HRAS, KRAS
22pneumonic plague10.4HRAS, KRAS
23small intestine leiomyoma10.4HRAS, KRAS
24malignant fibroxanthoma10.3HRAS, KRAS
25serous surface papilloma10.3HRAS, KRAS
26corticosterone methyloxidase deficiency10.3HRAS, KRAS
27osteoclast-like giant cell neoplasm of the pancreas10.3HRAS, KRAS
28mucinous stomach adenocarcinoma10.3HRAS, KRAS
29biliary tract intraductal papillary mucinous neoplasm10.3HRAS, KRAS
30watson syndrome10.3MAP2K2, PTPN11
31head and neck carcinoma10.3HRAS, KRAS
32congenital structural myopathy10.3HRAS, KRAS
33gallbladder leiomyosarcoma10.3HRAS, KRAS
34cavernous hemangioma10.3HRAS, KRAS
35bile duct carcinoma10.2HRAS, KRAS
36bacterial exanthem10.2HRAS, KRAS
37biliary tract neoplasm10.2HRAS, KRAS
38rhabdomyosarcoma10.2
39melas syndrome10.2HRAS, KRAS
40ulnar neuropathy10.1HRAS, KRAS
41separation anxiety disorder10.1ELN, HRAS
42cardiomyopathy10.1
43neuromuscular disease10.0HRAS, KRAS, MAP2K1
44stork bite10.0ELN, PTPN11
45hypertrophic cardiomyopathy10.0
46cutis laxa10.0
47embryonal rhabdomyosarcoma10.0
48pancreatitis10.0
49hypoglycemia10.0
50connective tissue benign neoplasm10.0HRAS, KRAS

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

UMLS symptoms related to Costello Syndrome:


koilonychia, hoarseness

Drugs & Therapeutics for Costello Syndrome

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

(show all 36)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dexamethasoneapproved, investigationalPhase 3190950-02-25743
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 3674191732-72-6216326
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
PrednisoneapprovedPhase 3126753-03-25865
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 3769179324-69-7387447, 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
5Gastrointestinal AgentsPhase 36401
6glucocorticoidsPhase 33896
7Dexamethasone acetatePhase 319091177-87-3
8HormonesPhase 311748
9EndorphinsPhase 347
10HIV Protease InhibitorsPhase 34558
11Immunologic FactorsPhase 3, Phase 118483
12Protease InhibitorsPhase 34558
13Peripheral Nervous System AgentsPhase 318510
14beta-endorphinPhase 399
15Immunosuppressive AgentsPhase 310422
16Adrenocorticotropic HormonePhase 3133
17Dexamethasone 21-phosphatePhase 31909
18Hormone AntagonistsPhase 310002
19Angiogenesis InhibitorsPhase 33688
20BB 1101Phase 31909
21Melanocyte-Stimulating HormonesPhase 398
22Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
23Angiogenesis Modulating AgentsPhase 33611
24Neurotransmitter AgentsPhase 314795
25Anti-Bacterial AgentsPhase 39140
26Antineoplastic Agents, HormonalPhase 34256
27Anti-Inflammatory AgentsPhase 38478
28AntiemeticsPhase 33213
29Anti-Infective AgentsPhase 317220
30
NivolumabapprovedPhase 1198946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
31ImmunoglobulinsPhase 14477
32AntibodiesPhase 14477
33Antibodies, MonoclonalPhase 12413
34
Azacitidineapproved, investigational360320-67-29444
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
35Antimetabolites9454
36Antimetabolites, Antineoplastic5770

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 HRAS

Anatomical Context for Costello Syndrome

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MalaCards organs/tissues related to Costello Syndrome:

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

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:00020068.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
2MP:00053778.7KRAS, MAP2K1, MAP2K2, PTPN11
3MP:00053918.5KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
4MP:00053818.5KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
5MP:00053798.3HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
6MP:00107718.2HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
7MP:00053857.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
8MP:00053827.2CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
9MP:00107687.2CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
10MP:00053787.1CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
11MP:00053907.0CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11

Publications for Costello Syndrome

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Articles related to Costello Syndrome:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation. (26812928)
2016
2
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. (26138095)
2015
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
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
6
Syndrome in question. Costello syndrome. (25387514)
2014
7
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. (24057668)
2014
8
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
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_005343.3(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_005343.3(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4NM_005343.3(HRAS): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5NM_005343.3(HRAS): c.35G> C (p.Gly12Ala)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
6NM_005343.3(HRAS): c.38G> A (p.Gly13Asp)single nucleotide variantPathogenicrs104894226GRCh37Chr 11, 534285: 534285
7NM_005343.3(HRAS): c.350A> G (p.Lys117Arg)single nucleotide variantPathogenicrs104894227GRCh37Chr 11, 533553: 533553
8NM_005343.3(HRAS): c.37G> T (p.Gly13Cys)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
9NM_005343.3(HRAS): c.436G> A (p.Ala146Thr)single nucleotide variantPathogenicrs104894231GRCh37Chr 11, 533467: 533467
10NM_005343.3(HRAS): c.64C> A (p.Gln22Lys)single nucleotide variantLikely pathogenic, Pathogenicrs121917757GRCh37Chr 11, 534259: 534259
11NM_176795.4(HRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs121917758GRCh37Chr 11, 533883: 533883
12NM_005343.3(HRAS): c.437C> T (p.Ala146Val)single nucleotide variantLikely pathogenic, Pathogenicrs121917759GRCh37Chr 11, 533466: 533466
13NM_005343.3(HRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
14NM_005343.3(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
15NM_005343.3(HRAS): c.35_36delGCinsAA (p.Gly12Glu)indelLikely pathogenicrs727503094GRCh37Chr 11, 534287: 534288
16NM_005343.3(HRAS): c.175_176delGCinsCT (p.Ala59Leu)indelLikely pathogenicrs727504747GRCh37Chr 11, 533880: 533881
17NM_005343.3(HRAS): c.110_111+1dupAGGduplicationPathogenicrs398122808GRCh37Chr 11, 534211: 534213
18NM_005343.3(HRAS): c.108_110dupAGA (p.Glu37_Asp38insGlu)duplicationPathogenicrs398122809GRCh37Chr 11, 534213: 534215
19NM_005343.3(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
1COSM580NRASskin,hand,benign melanocytic nevus,congenital12
2COSM584NRASskin,hand,benign melanocytic nevus,congenital12
3COSM484HRASskin,hand,other,wart9
4COSM483HRASskin,hand,other,wart9

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 152)
idSuper pathwaysScoreTop Affiliating Genes
18.8HRAS, MAP2K1, MAP2K2, SOS1
28.8HRAS, KRAS, MAP2K1, MAP2K2
38.8HRAS, KRAS, MAP2K1, MAP2K2
4
Show member pathways
8.8HRAS, KRAS, MAP2K1, MAP2K2
58.8HRAS, KRAS, MAP2K1, MAP2K2
68.8HRAS, KRAS, MAP2K1, MAP2K2
78.8HRAS, KRAS, MAP2K1, MAP2K2
8
Show member pathways
8.8HRAS, KRAS, MAP2K1, MAP2K2
9
Show member pathways
8.8HRAS, KRAS, MAP2K1, MAP2K2
10
Show member pathways
8.8HRAS, MAP2K1, PTPN11, SOS1
118.7HRAS, KRAS, MAP2K2, PTPN11
128.6KRAS, MAP2K1, MAP2K2, SOS1
13
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
14
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
158.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
168.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
178.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
18
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
19
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
208.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
21
Show member pathways
8.4HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
22
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
23
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
24
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
258.3HRAS, 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
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
29
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
30
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
31
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
328.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
338.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
34
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
358.3HRAS, KRAS, MAP2K1, PTPN11, SOS1
36
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
37
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
387.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
39
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
40
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
417.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
42
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
43
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
44
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
45
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
46
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
47
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
48
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
49
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
50
Show member pathways
7.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1

GO Terms for genes affiliated with Costello Syndrome

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1regulation of axon regenerationGO:004867910.4MAP2K1, MAP2K2
2epithelial cell proliferation involved in lung morphogenesisGO:006050210.4MAP2K1, MAP2K2
3cerebellar cortex formationGO:002169710.3MAP2K1, PTPN11
4cellular senescenceGO:009039810.3HRAS, MAP2K1
5thymus developmentGO:004853810.2MAP2K1, MAP2K2
6positive regulation of protein serine/threonine kinase activityGO:007190210.0MAP2K1, MAP2K2
7activation of MAPK activityGO:00001879.7MAP2K1, MAP2K2, PTPN11
8negative regulation of gene expressionGO:00106299.7HRAS, MAP2K1, MAP2K2
9ERBB2 signaling pathwayGO:00381289.6HRAS, KRAS, SOS1
10regulation of long-term neuronal synaptic plasticityGO:00481699.5HRAS, KRAS
11MAPK cascadeGO:00001659.4HRAS, KRAS, SOS1
12social behaviorGO:00351769.3HRAS, KRAS
13leukocyte migrationGO:00509009.3HRAS, KRAS, PTPN11
14neurotrophin TRK receptor signaling pathwayGO:00480119.2HRAS, KRAS, MAP2K1
15epidermal growth factor receptor signaling pathwayGO:00071738.7HRAS, KRAS, MAP2K1, PTPN11, SOS1
16activation of MAPKK activityGO:00001868.6HRAS, KRAS, MAP2K1, MAP2K2, SOS1
17vascular endothelial growth factor receptor signaling pathwayGO:00480108.6HRAS, KRAS, MAP2K1, MAP2K2, SOS1
18fibroblast growth factor receptor signaling pathwayGO:00085438.3HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
19insulin receptor signaling pathwayGO:00082868.1HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
20innate immune responseGO:00450877.8HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1

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