MCID: CST001
MIFTS: 68

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 50 11 22 46 23 24 13 52 68 25 37 66
Faciocutaneoskeletal Syndrome 11 46 24 52 68
Fcs Syndrome 11 46 24 52 68
Congenital Myopathy with Excess of Muscle Spindles 50 68 25 12
 
Cmems 68
Cstlo 68
Fcss 68

Characteristics:

Orphanet epidemiological data:

52
costello syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Japan); Age of onset: Antenatal,Neonatal

HPO:

62
costello syndrome:
Inheritance: autosomal dominant inheritance, sporadic
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM50 218040
Disease Ontology11 DOID:0050469
MeSH37 D056685
NCIt43 C84652
Orphanet52 ORPHA3071
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 D056685
UMLS via Orphanet67 C0587248

Summaries for Costello Syndrome

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NIH Rare Diseases:46 Costello syndrome is a rare condition that affects many different parts of the body. signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. beginning in early childhood, people with costello syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. costello syndrome is caused by changes (mutations) in the hras gene. it is considered an autosomal dominant condition, but almost all cases are the result of de novo gene mutations and occur in people with no family history of the condition. treatment is based on the signs and symptoms present in each person. costello syndrome belongs to a group of related conditions called the rasopathies. these conditions have some overlapping features and are all caused by genetic changes that disrupt the body's ras pathway, affecting growth and development. the features of costello syndrome overlap significantly with two of the rasopathies, cardiofaciocutaneous (cfc) syndrome and noonan syndrome. last updated: 3/9/2016

MalaCards based summary: Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to papilloma and cardiofaciocutaneous syndrome, and has symptoms including abnormality of the palate, macrocephaly and short neck. An important gene associated with Costello Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways are Nongenotropic Androgen signaling and Development_Leptin signaling via JAK/STAT and MAPK cascades. Affiliated tissues include heart, skin and brain, and related mouse phenotypes are hearing/vestibular/ear and neoplasm.

Genetics Home Reference:24 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:50 Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse... (218040) more...

UniProtKB/Swiss-Prot:68 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:69 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 93)
idRelated DiseaseScoreTop Affiliating Genes
1papilloma30.5HRAS, KRAS
2cardiofaciocutaneous syndrome10.6
3vagina sarcoma10.5HRAS, KRAS
4glomerulosclerosis10.5HRAS, KRAS
5gonococcal spondylitis10.5HRAS, KRAS
6epidermal nevus, somatic10.5HRAS, KRAS
7schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.5HRAS, KRAS
8myxosarcoma10.5HRAS, KRAS
9seminal vesicle chronic gonorrhea10.5HRAS, KRAS
10ureter adenocarcinoma10.5HRAS, KRAS
11trachea adenoid cystic carcinoma10.5HRAS, KRAS
12breast papillary carcinoma10.5HRAS, KRAS
13spindle epithelial tumor with thymus-like differentiation tumor10.5HRAS, KRAS
14uterine ligament serous adenocarcinoma10.5HRAS, KRAS
15appendix mucinous cystadenocarcinoma10.5HRAS, KRAS
16tabes dorsalis10.5HRAS, KRAS
17acanthoma10.5HRAS, KRAS
18adenofibroma10.5HRAS, KRAS
19growth hormone insensitivity with immunodeficiency10.5MAP2K2, PTPN11
20migraine with aura10.4HRAS, KRAS
21neonatal stroke10.4HRAS, PTPN11
22ovarian serous adenofibroma10.4HRAS, KRAS
23advanced sleep phase syndrome10.4HRAS, KRAS
24rete testis neoplasm10.4HRAS, KRAS
25vibratory urticaria10.4HRAS, KRAS
26gastric adenocarcinoma10.4HRAS, KRAS
27epilepsy with generalized tonic-clonic seizures10.4HRAS, KRAS
28critical congenital heart disease10.4HRAS, KRAS
29c8 deficiency, type ii10.4MAP2K1, MAP2K2
30pyoderma10.3HRAS, KRAS
31adenosquamous carcinoma10.3HRAS, KRAS
32intrahepatic cholangiocarcinoma10.3HRAS, KRAS
33breast scirrhous carcinoma10.3HRAS, KRAS
34hemangioma of lung10.3HRAS, KRAS
35follicular mucinosis10.2PTPN11, SOS1
36early congenital syphilis10.2HRAS, KRAS
37rhabdomyosarcoma10.2
38dermatosis papulosa nigra10.2HRAS, KRAS, MAP2K1
39cervical adenoid basal carcinoma10.2PTPN11, SOS1
40pericarditis10.1HRAS, KRAS, MAP2K1
41pancreatic serous cystadenocarcinoma10.1PTPN11, SOS1
42gastrointestinal neuroendocrine tumor10.1HRAS, KRAS
43cardiomyopathy10.1
44hypertrophic cardiomyopathy10.1
45cutis laxa10.0
46embryonal rhabdomyosarcoma10.0
47pancreatitis10.0
48hypoglycemia10.0
49periapical granuloma10.0HRAS, KRAS
50lactocele10.0ELN, HRAS

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:

 52 (show all 48)
  • cryptorchidism
  • macroglossia
  • abnormality of the teeth
  • thick lower lip vermilion
  • narrow palate
  • macrocephaly
  • coarse facial features
  • epicanthus
  • full cheeks
  • low-set, posteriorly rotated ears
  • short neck
  • thickened nuchal skin fold
  • strabismus
  • keratoconus
  • abnormality of dental enamel
  • abnormality of the skin
  • acanthosis nigricans
  • hyperkeratosis
  • abnormality of the fingernails
  • intellectual disability
  • failure to thrive in infancy
  • polyhydramnios
  • redundant skin
  • abnormality of the hair
  • concave nail
  • ventricular septal defect
  • mitral valve prolapse
  • hypertrophic cardiomyopathy
  • pulmonic stenosis
  • hypoplastic toenails
  • deep-set nails
  • gastroesophageal reflux
  • poor suck
  • cerebral cortical atrophy
  • woolly hair
  • delayed skeletal maturation
  • short stature
  • thickened achilles tendon
  • depressed nasal bridge
  • joint hyperflexibility
  • generalized hyperpigmentation
  • abnormal dermatoglyphics
  • feeding difficulties in infancy
  • ulnar deviation of finger
  • large earlobe
  • papilloma
  • lack of skin elasticity
  • large face

HPO human phenotypes related to Costello Syndrome:

(show all 108)
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 macroglossia HP:0000158
43 thick lower lip vermilion HP:0000179
44 high palate HP:0000218
45 hydrocephalus HP:0000238
46 wide anterior fontanel HP:0000260
47 coarse facial features HP:0000280
48 epicanthus HP:0000286
49 full cheeks HP:0000293
50 pointed chin HP:0000307
51 hypertelorism HP:0000316
52 micrognathia HP:0000347
53 posteriorly rotated ears HP:0000358
54 low-set ears HP:0000369
55 anteverted nares HP:0000463
56 webbed neck HP:0000465
57 short neck HP:0000470
58 strabismus HP:0000486
59 downslanted palpebral fissures HP:0000494
60 ptosis HP:0000508
61 pectus carinatum HP:0000768
62 hyperpigmentation of the skin HP:0000953
63 acanthosis nigricans HP:0000956
64 hyperextensibility of the finger joints HP:0001187
65 intellectual disability HP:0001249
66 global developmental delay HP:0001263
67 failure to thrive HP:0001508
68 overgrowth HP:0001548
69 barrel-shaped chest HP:0001552
70 polyhydramnios HP:0001561
71 concave nail HP:0001598
72 hoarse voice HP:0001609
73 premature birth HP:0001622
74 ventricular septal defect HP:0001629
75 atria septal defect HP:0001631
76 mitral valve prolapse HP:0001634
77 hypertrophic cardiomyopathy HP:0001639
78 pulmonic stenosis HP:0001642
79 talipes equinovarus HP:0001762
80 achilles tendon contracture HP:0001771
81 fragile nails HP:0001808
82 deep-set nails HP:0001814
83 thin nail HP:0001816
84 deep plantar creases HP:0001869
85 hypoglycemia HP:0001943
86 pyloric stenosis HP:0002021
87 poor suck HP:0002033
88 cerebral atrophy HP:0002059
89 pneumothorax HP:0002107
90 ventriculomegaly HP:0002119
91 curly hair HP:0002212
92 tracheomalacia HP:0002779
93 bronchomalacia HP:0002780
94 rhabdomyosarcoma HP:0002859
95 bladder carcinoma HP:0002862
96 obstructive sleep apnea HP:0002870
97 respiratory failure HP:0002878
98 limited elbow movement HP:0002996
99 nevus HP:0003764
100 short stature HP:0004322
101 depressed nasal bridge HP:0005280
102 redundant neck skin HP:0005989
103 deep palmar crease HP:0006191
104 arnold-chiari type i malformation HP:0007099
105 sparse hair HP:0008070
106 vestibular schwannoma HP:0009588
107 arrhythmia HP:0011675
108 enlarged cerebellum HP:0012081

UMLS symptoms related to Costello Syndrome:


hoarseness, koilonychia

Drugs & Therapeutics for Costello Syndrome

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 35157
Synonyms:
 
protease inhibitors
2
ThalidomidePhase 3106050-35-15426
Synonyms:
( inverted question mark)-Thalidomide
(+)-Thalidomide
(+-)-N-(2,6-dioxo-3-Piperidyl)phthalimide
(+-)-Thalidomide
(+/-)-THALIDOMIDE
(?)-Thalidomide
(±)-N-(2,6-dioxo-3-piperidyl)phthalimide
(±)-thalidomide
.alpha.-(N-Phthalimido)glutarimide
.alpha.-N-Phthalylglutaramide
.alpha.-Phthalimidoglutarimide
1,3-dioxo-2-(2,6-dioxopiperidin-3-yl)isoindoline
14088-68-7
2,6-Dioxo-3-phthalimidopiperidine
2,6-dioxo-3-phthalimidopiperidine
3-Phthalimidoglutarimide
50-35-1
731-40-8
AB00052362
AC-917
AC1L1KBZ
AC1Q6FJA
AI3-50606
Algosediv
Asidon 3
Asmadion
Asmaval
BPBio1_000159
BRD-A93255169-001-06-9
BRN 0030233
BSPBio_000143
BSPBio_001156
BSPBio_003330
Bio1_000387
Bio1_000876
Bio1_001365
Bio2_000418
Bio2_000898
Bonbrain
Bonbrrin
C07910
C13H10N2O4
CCRIS 8148
CHEBI:105028
CHEMBL468
CID5426
CPD000058524
Calmore
Calmorex
Celgene Brand of Thalidomide
Contergan
Corronarobetin
D00754
D013792
DB01041
Distaval
Distaxal
Distoval
DivK1c_000051
E-217
EINECS 200-031-1
ENMD 0995
EU-0101224
Ectiluran
Enterosediv
Gastrinide
Glupan
Glutanon
Grippex
HMS1362J17
HMS1568H05
HMS1792J17
HMS1922E12
HMS1990J17
HMS2090O05
HMS2093G15
HMS500C13
HSDB 3586
Hippuzon
I06-0197
IDI1_000051
IDI1_002173
IN1061
Imida-Lab
Imida-lab
Imidan
Imidan (peyta)
Imidene
Isomin
K 17
K-17
KBio1_000051
KBio2_000496
KBio2_002322
KBio2_003064
KBio2_004890
KBio2_005632
KBio2_007458
KBio3_000911
KBio3_000912
KBio3_002550
KBio3_002802
KBioGR_000496
KBioGR_001474
KBioGR_002322
KBioSS_000496
KBioSS_002324
Kedavon
Kevadon
LS-109463
LS-140
Lopac0_001224
Lulamin
MLS000069353
MolPort-003-665-582
N-(2,6-Dioxo-3-piperidyl)phthalimide
N-(2,6-dioxo-3-piperidyl)phthalimide
N-Phthalimidoglutamic acid imide
N-Phthaloylglutamimide
N-Phthalyl-glutaminsaeure-imid
N-Phthalyl-glutaminsaeure-imid [German]
N-Phthalylglutamic acid imide
NCGC00015989-03
NCGC00015989-13
NCGC00024708-02
 
NCGC00024708-03
NCGC00024708-04
NCGC00024708-05
NCGC00024708-06
NCGC00024708-07
NCGC00024708-08
NCGC00024708-09
NCI60_023904
NCIOpen2_003188
NINDS_000051
NSC 527179
NSC-66847
NSC527179
NSC66847
NSC91729
NSC91730
Neaufatin
Neo
Neosedyn
Neosydyn
Nerosedyn
Neufatin
Neurodyn
Neurosedin
Neurosedym
Neurosedyn
Nevrodyn
Nibrol
Noctosediv
Noxodyn
Pangul
Pantosediv
Poly-Giron
Polygripan
Predni-Sediv
Prestwick0_000192
Prestwick1_000192
Prestwick2_000192
Prestwick3_000192
Prestwick_463
Pro-Bam M
Pro-ban M
Profarmil
Psycholiquid
Psychotablets
Quetimid
Quietoplex
S1193_Selleck
SAM002564245
SMR000058524
SPBio_000893
SPBio_002064
SPECTRUM1503607
ST51039042
Sandormin
Sedalis
Sedalis sedi-lab
Sedimide
Sedin
Sedisperil
Sedoval
Shin-naito S
Shinnibrol
Sleepan
Slipro
Softenil
Softenon
Spectrum2_000707
Spectrum3_001715
Spectrum4_001087
Spectrum5_001791
Synovir
T144_SIGMA
T150_SIGMA
T151_SIGMA
THALIDOMIDE (AIDS INITIATIVE)
Talargan
Talidomida
Talidomida [INN-Spanish]
Talidomide
Talidomide [DCIT]
Talimol
Talismol
Talizer
Telagan
Telargan
Telargean
Tensival
Thaled
Thaled (TN)
Thalidomide
Thalidomide (+ and -)
Thalidomide (JAN/USP/INN)
Thalidomide (soluble form)
Thalidomide Celgene
Thalidomide Pharmion
Thalidomide [USAN:INN:BAN]
Thalidomidum
Thalidomidum [INN-Latin]
Thalidomine USP26
Thalin
Thalinette
Thalomid
Thalomid (TM)
Thalomid (TN)
Thalomid, Thalidomide
Thalomide
Theophilcholine
UNII-4Z8R6ORS6L
UPCMLD-DP139
UPCMLD-DP139:001
Valgis
Valgraine
WLN: T56 BVNVJ C- DT6VMVTJ
WLN: T56 BVNVJ C- DT6VMVTJ -D
WLN: T56 BVNVJ C- DT6VMVTJ -L
Yodomin
alpha-(N-Phthalimido)glutarimide
alpha-N-Phthalylglutaramide
alpha-Phthalimidoglutarimide
alpha-phthalimidoglutarimide
cMAP_000022
thalidomide
α-(N-phthalimido)glutarimide
α-N-phthalylglutaramide
α-phthalimidoglutarimide
3
BortezomibPhase 3783179324-69-7387447, 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
4
LenalidomidePhase 3691191732-72-6216326
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
5glucocorticoidsPhase 34756
6
DexamethasonePhase 3200150-02-25743
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
7Dexamethasone acetatePhase 320011177-87-3
8
nivolumabPhase 1254946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
9
Azacitidine482320-67-29444
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
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 Syndrome25 23 HRAS
2 Myopathy, Congenital, with Excess of Muscle Spindles25

Anatomical Context for Costello Syndrome

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MalaCards organs/tissues related to Costello Syndrome:

34
Heart, Skin, Brain, Tongue, Cerebellum, Pancreatic islet, Spinal cord

Animal Models for Costello Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Costello Syndrome:

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2KRAS, MAP2K1, MAP2K2, PTPN11
2MP:00020068.6HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
3MP:00053818.4KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
4MP:00107718.4HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
5MP:00053918.2KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
6MP:00053797.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
7MP:00053827.5CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
8MP:00053857.5HRAS, KRAS, MAP2K1, MAP2K2, MFAP2, PTPN11
9MP:00053786.8CHST11, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
10MP:00053906.6CHST11, HRAS, KRAS, MAP2K1, MAP2K2, MFAP2

Publications for Costello Syndrome

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Articles related to Costello Syndrome:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation. (26812928)
2016
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
Human papilloma virus-infected genital warts in a girl with Costello syndrome. (25787333)
2015
5
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
6
Syndrome in question. Costello syndrome. (25387514)
2014
7
Decreased bone mineral density in Costello syndrome. (24246682)
2014
8
Craniofacial and dental development in Costello syndrome. (24668879)
2014
9
Cardiac events in Costello syndrome: One case and a review of the literature. (24719541)
2014
10
Behavioral phenotype in Costello syndrome with atypical mutation: A case report. (25367099)
2014
11
Orthopedic manifestations and implications for individuals with Costello syndrome. (23813656)
2013
12
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. (23393369)
2013
13
Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory. (23918324)
2013
14
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
15
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history. (22528320)
2012
16
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. (22261753)
2012
17
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. (20658932)
2011
18
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
19
Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy. (20307337)
2010
20
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. (20979192)
2010
21
A premature infant with Costello syndrome due to a rare G13C HRAS mutation. (19213030)
2009
22
Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome. (19288554)
2009
23
Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells. (19132118)
2009
24
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. (18386799)
2008
25
Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome. (18203173)
2008
26
Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report. (17690078)
2007
27
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. (17366577)
2007
28
Rhythmic tongue movements during sleep: a peculiar parasomnia in Costello syndrome. (16250029)
2006
29
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. (16329078)
2006
30
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. (16372351)
2006
31
Tumor predisposition in Costello syndrome. (16010679)
2005
32
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. (15264285)
2004
33
Studies on the pathogenesis of Costello syndrome. (12676910)
2003
34
Concerning &quot;Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol&quot;. (12698963)
2003
35
Costello syndrome: an overview. (12561057)
2003
36
Further delineation of the behavioral and neurologic features in Costello syndrome. (12605434)
2003
37
Costello syndrome and neurological abnormalities. (14608654)
2003
38
Recurrent transitional cell carcinoma in a child with the Costello syndrome. (12187253)
2002
39
Growth hormone deficiency in Costello syndrome: a possible explanation for the short stature. (11148542)
2001
40
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. (10712202)
2000
41
Picture of the month. Costello syndrome. (10850515)
2000
42
Costello syndrome and rhabdomyosarcoma. (10424828)
1999
43
Costello syndrome with decreased glucose tolerance. (10523730)
1999
44
Costello syndrome. (9541110)
1998
45
Costello syndrome in two Brazilian children. (9475096)
1998
46
Life-threatening cardiac involvement throughout life in a case of Costello syndrome. (9001809)
1996
47
Elastic fiber degeneration in Costello syndrome. (8834040)
1996
48
Costello syndrome. (7722055)
1995
49
Hungarian case with Costello syndrome and translocation t(1,22) (7677162)
1995
50
Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. (7888135)
1994

Variations for Costello Syndrome

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

68 (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
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 pathogenicrs727504747GRCh38Chr 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

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 156)
idSuper pathwaysScoreTop Affiliating Genes
19.4HRAS, MAP2K1, MAP2K2
2
Show member pathways
9.0HRAS, MAP2K1, PTPN11, SOS1
38.9HRAS, MAP2K1, MAP2K2, SOS1
48.8HRAS, KRAS, MAP2K1, MAP2K2
5
Show member pathways
8.8HRAS, KRAS, MAP2K1, MAP2K2
68.8HRAS, KRAS, MAP2K1, MAP2K2
78.8HRAS, KRAS, MAP2K1, MAP2K2
88.8HRAS, KRAS, MAP2K1, MAP2K2
98.8HRAS, KRAS, MAP2K1, MAP2K2
10
Show member pathways
8.8HRAS, KRAS, MAP2K1, MAP2K2
118.7HRAS, KRAS, MAP2K2, PTPN11
12
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
13
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
14
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
158.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
168.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
178.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
18
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
198.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
20
Show member pathways
8.6HRAS, MAP2K1, MAP2K2, PTPN11, SOS1
218.4HRAS, KRAS, MAP2K1, 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
25
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
26
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
278.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
28
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
29
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
308.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
31
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
32
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
33
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, SOS1
34
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
35
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
36
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
37
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
387.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
39
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
407.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
41
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
42
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
43
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
44
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
457.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
46
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
47
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
48
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
49
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
50
Show member pathways
7.9HRAS, 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:00057398.2ELN, KRAS, MAP2K1, MAP2K2, PTPN11

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.4MAP2K1, MAP2K2
2proteolysis in other organismGO:003589710.4MAP2K1, MAP2K2
3regulation of Golgi inheritanceGO:009017010.4MAP2K1, MAP2K2
4regulation of stress-activated MAPK cascadeGO:003287210.4MAP2K1, MAP2K2
5Bergmann glial cell differentiationGO:006002010.4MAP2K1, PTPN11
6cellular senescenceGO:009039810.3HRAS, MAP2K1
7epithelial cell proliferation involved in lung morphogenesisGO:006050210.3MAP2K1, MAP2K2
8positive regulation of axonogenesisGO:005077210.3MAP2K1, MAP2K2
9regulation of axon regenerationGO:004867910.3MAP2K1, MAP2K2
10cerebellar cortex formationGO:002169710.3MAP2K1, PTPN11
11thyroid gland developmentGO:003087810.2MAP2K1, MAP2K2
12face developmentGO:006032410.2MAP2K1, MAP2K2
13ERK1 and ERK2 cascadeGO:007037110.2MAP2K1, MAP2K2
14trachea formationGO:006044010.1MAP2K1, MAP2K2
15positive regulation of protein serine/threonine kinase activityGO:007190210.1MAP2K1, MAP2K2
16regulation of early endosome to late endosome transportGO:200064110.1MAP2K1, MAP2K2
17neurotrophin TRK receptor signaling pathwayGO:004801110.0PTPN11, SOS1
18homeostasis of number of cells within a tissueGO:004887310.0KRAS, PTPN11
19negative regulation of gene expressionGO:00106299.7HRAS, MAP2K1, MAP2K2
20heart developmentGO:00075079.6MAP2K1, MAP2K2, PTPN11
21Fc-epsilon receptor signaling pathwayGO:00380959.5HRAS, KRAS, SOS1
22regulation of long-term neuronal synaptic plasticityGO:00481699.5HRAS, KRAS
23respiratory gaseous exchangeGO:00075859.5CHST11, ELN
24ERBB2 signaling pathwayGO:00381289.5HRAS, KRAS, SOS1
25Ras protein signal transductionGO:00072659.2HRAS, KRAS, SOS1
26epidermal growth factor receptor signaling pathwayGO:00071739.1HRAS, KRAS, PTPN11, SOS1
27axon guidanceGO:00074119.1HRAS, KRAS, SOS1
28activation of MAPK activityGO:00001879.0MAP2K1, MAP2K2, PTPN11
29positive regulation of ERK1 and ERK2 cascadeGO:00703748.9HRAS, MAP2K1, MAP2K2, PTPN11
30leukocyte migrationGO:00509008.9HRAS, KRAS, PTPN11, SOS1
31MAPK cascadeGO:00001658.6HRAS, 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:00435399.8MAP2K1, MAP2K2
3protein serine/threonine/tyrosine kinase activityGO:00047129.7MAP2K1, MAP2K2

Sources for Costello Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet