MCID: CRD013
MIFTS: 74

Cardiofaciocutaneous Syndrome malady

Neuronal diseases, Skin diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Cardiofaciocutaneous Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Cardiofaciocutaneous (cfc) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). people with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. the signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, costello syndrome and noonan syndrome. the three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. this condition is caused by mutations in the braf, map2k1, or map2k2 gene. cfc syndrome is an autosomal dominant condition; but all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. last updated: 11/7/2011

MalaCards: Cardiofaciocutaneous Syndrome, also known as cfc syndrome, is related to noonan syndrome and hypertrophic cardiomyopathy, and has symptoms including high vaulted/narrow palate, hyperelastic skin/cutaneous hyperlaxity and diffuse/generalised skin hyperpigmentation/melanoderma. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (v-raf murine sarcoma viral oncogene homolog B), and among its related pathways are Thyroid cancer and G-protein signaling TC21 regulation pathway. The compounds adp and sb 590885 have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and testes, and related mouse phenotypes are skeleton and vision/eye.

Genetics Home Reference:21 Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.

Wikipedia:63 Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder. more...

Description from OMIM:46 115150,615278,615279,615280

GeneReviews summary for cfc

Aliases & Classifications for Cardiofaciocutaneous Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
cardiofaciocutaneous syndrome:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

cardiofaciocutaneous syndrome 19 42 20 21 46 48
cfc syndrome 19 42 21 44 48
cardio-facio-cutaneous syndrome 42 22 21 60
congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure 42


External Ids:

MESH via Orphanet35 C535579
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 403770008
UMLS via Orphanet61 C1275081

Related Diseases for Cardiofaciocutaneous Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Cardiofaciocutaneous Syndrome family:

Braf-Related Cardiofaciocutaneous Syndrome Map2k1-Related Cardiofaciocutaneous Syndrome
Kras-Related Cardiofaciocutaneous Syndrome Map2k2-Related Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4

Diseases related to Cardiofaciocutaneous Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome30.3KRAS, PTPN11, RAF1, HRAS, MAP2K1, BRAF
2hypertrophic cardiomyopathy30.0PTPN11
3leukemia30.0MAP2K1, HRAS, RAF1, KRAS, PTPN11
4leopard syndrome30.0SOS1, HRAS, RAF1, PTPN11
5costello syndrome30.0BRAF, SOS1, MAP2K2, MAP2K1, HRAS, KRAS
6status epilepticus10.3
7retinitis pigmentosa10.3
8epilepsy syndrome10.3
9hemangioma10.3
10hepatoblastoma10.3
11cardiomyopathy, familial hypertrophic, 2010.3
12cardiomyopathy, dilated, 1jj10.3
13cardiomyopathy, familial hypertrophic, 1810.3
14cardiofaciocutaneous syndrome 310.3
15neuropathy10.2
16peripheral neuropathy10.2
17noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.2
18braf-related cardiofaciocutaneous syndrome10.2
19map2k1-related cardiofaciocutaneous syndrome10.2
20kras-related cardiofaciocutaneous syndrome10.2
21map2k2-related cardiofaciocutaneous syndrome10.2
22cardiofaciocutaneous syndrome 210.2
23cardiofaciocutaneous syndrome 410.2
24non-hodgkin lymphoma10.0
25tetralogy of fallot10.0
26retinitis10.0
27woolly hair, autosomal dominant10.0
28hypotrichosis 810.0
29astrocytoma10.0HRAS
30multiple myeloma10.0HRAS
31noonan syndrome 510.0RAF1
32murray valley encephalitis10.0RAF1
33osteosarcoma10.0MAP2K1
34thyroid cancer10.0HRAS, BRAF
35myeloma10.0HRAS, MAP2K1
36thyroid adenoma10.0RAF1, BRAF
37spitz nevus10.0HRAS, BRAF
38familial adenomatous polyposis10.0KRAS, BRAF
39pancreatitis10.0KRAS, HRAS
40nodular goiter10.0BRAF, HRAS
41endometrial carcinoma10.0BRAF, KRAS
42encephalitis10.0RAF1
43papilloma10.0HRAS, MAP2K1
44dengue disease10.0KRAS, RAF1
45exanthem10.0KRAS, HRAS
46anthrax disease10.0MAP2K1, MAP2K2, BRAF
47large cell carcinoma10.0KRAS, HRAS
48polycystic kidney disease, autosomal dominant10.0BRAF, RAF1
49factor vii deficiency10.0KRAS, RAF1
50rhabdomyosarcoma10.0MAP2K1, PTPN11

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



Diseases related to cardiofaciocutaneous syndrome

Clinical Features for Cardiofaciocutaneous Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

115150,615278,615279,615280

Clinical synopsis from OMIM:

115150

Symptoms:

48 (show all 78)
  • high vaulted/narrow palate
  • hyperelastic skin/cutaneous hyperlaxity
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • cafe-au-lait spot
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • slow growth of the hair
  • ichthyosis/ichthyosiform dermatitis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • deep palmar creases
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • scoliosis
  • pectus excavatum
  • webbed neck/pterygium colli
  • short neck
  • long/large ear
  • low set ears/posteriorly rotated ears
  • low hair line (back)
  • dysplastic/thick/grooved fingernails
  • elocution disorders/dysarthria/dysphonia
  • hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • late puberty/hypogonadism/hypogenitalism
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • lymphedema
  • cardiomyopathy/hypertrophic/dilated
  • functional anomalies of the digestive system
  • structural anomalies of the digestive tract
  • loose skin/skin relaxation/excess skin/creases
  • cubitus valgus
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • prematurity
  • genu valgum
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • eeg anomalies
  • long philtrum
  • coarse face
  • hairy patch
  • rippled skin
  • dry/squaly skin/exfoliation
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • palmoplantar hyperkeratosis/keratoderma
  • helix thickened/sculpted
  • broad cheeks/cherub-like/cherubin face
  • long face
  • flat supraorbital ridge
  • anomalies of eyes and vision
  • absent/decreased/thin eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • euryblepharon/wide palpebral fissures
  • anteverted nares/nostrils
  • atrial septal defect/interauricular communication
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • flat cheek bones/malar hypoplasia
  • myopia
  • strabismus/squint
  • nystagmus
  • ptosis
  • epicanthic folds
  • absent/decreased lashes
  • short/small nose
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypertelorism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • high forehead
  • narrow forehead
  • depressed nasal bridge

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cardiofaciocutaneous Syndrome

Drug clinical trials:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome

Search CenterWatch for Cardiofaciocutaneous Syndrome

Genetic Tests for Cardiofaciocutaneous Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Cardiofaciocutaneous Syndrome:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome20 MAP2K2
2 Cardio-Facio-Cutaneous Syndrome22

Anatomical Context for Cardiofaciocutaneous Syndrome

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32MalaCards
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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

32
Skin, Heart, Testes, Bone, Eye

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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36MGI
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Publications for Cardiofaciocutaneous Syndrome

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50PubMed
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Articles related to Cardiofaciocutaneous Syndrome:

(show all 27)
idTitleAuthorsYear
1
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). (24166813)
2013
2
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. (24303953)
2013
3
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
4
Cardiofaciocutaneous syndrome: a rare entity. (22837569)
2012
5
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
6
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
2011
7
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
8
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (20186801)
2010
9
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. (19804494)
2010
10
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. (20518782)
2010
11
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
12
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. (18773675)
2008
13
The cardiofaciocutaneous syndrome: prenatal findings in two patients. (18022830)
2008
14
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. (17703371)
2007
15
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
16
The cardiofaciocutaneous syndrome. (16825433)
2006
17
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
18
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
19
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome. (12529707)
2003
20
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. (12384786)
2002
21
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
22
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
23
Cardiofaciocutaneous syndrome. (8420490)
1993
24
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
25
Cardiofaciocutaneous Syndrome (20301365)
1993
26
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992
27
Cardiofaciocutaneous syndrome. (1342862)
1992

Genetic Variations for Cardiofaciocutaneous Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiofaciocutaneous Syndrome:

62 (show all 24)
id Symbol AA change Variation ID SNP ID
1BRAFp.Gly469GluVAR_018621
2BRAFp.Phe595LeuVAR_018625
3BRAFp.Ala246ProVAR_026113
4BRAFp.Gln257ArgVAR_026114
5BRAFp.Leu485PheVAR_026115
6BRAFp.Lys499GluVAR_026116
7BRAFp.Glu501GlyVAR_026117
8BRAFp.Glu501LysVAR_026118
9BRAFp.Asn581AspVAR_026119
10BRAFp.Ser467AlaVAR_035096
11BRAFp.Phe468SerVAR_035097
12BRAFp.Gly596ValVAR_035098
13BRAFp.Thr241ProVAR_058621
14BRAFp.Leu245PheVAR_058623
15BRAFp.Glu275LysVAR_058624
16BRAFp.Lys499AsnVAR_058625
17BRAFp.Leu525ProVAR_058626
18BRAFp.Thr599ArgVAR_058628
19BRAFp.Lys601GlnVAR_058629
20BRAFp.Asp638GluVAR_058630
21BRAFp.Gln709ArgVAR_058631
22BRAFp.Thr244ProVAR_065171
23BRAFp.Gln262LysVAR_065172
24BRAFp.Asn580AspVAR_065173

Expression for genes affiliated with Cardiofaciocutaneous Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiofaciocutaneous Syndrome

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome.

Pathways for genes affiliated with Cardiofaciocutaneous Syndrome

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Sources:
29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 59Tocris Bioscience, 53Reactome, 52R&D Systems, 51QIAGEN, 49PharmGKB, 4Cell Signaling Technology
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Pathways related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 182)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.4MAP2K2, MAP2K1, HRAS, KRAS, BRAF
2
Hide members
8.2BRAF, SOS1, MAP2K2, MAP2K1, RAF1
38.1HRAS, SOS1, MAP2K1, PTPN11
47.8HRAS, MAP2K1, BRAF, RAF1, MAP2K2, KRAS
5
Hide members
7.8KRAS, HRAS, MAP2K1, MAP2K2, BRAF, RAF1
6
Hide members
7.8MAP2K1, BRAF, MAP2K2, HRAS, RAF1, KRAS
7
Hide members
7.8BRAF, KRAS, RAF1, HRAS, MAP2K1, MAP2K2
87.7SOS1, MAP2K2, KRAS, RAF1, MAP2K1, BRAF
9
G-protein signaling G-Protein alpha-i signaling cascades
Hide members
7.7MAP2K1, BRAF, SOS1, HRAS, RAF1, MAP2K2
107.7RAF1, MAP2K1, MAP2K2, BRAF, SOS1, HRAS
11
Hide members
7.7BRAF, RAF1, SOS1, MAP2K2, MAP2K1, HRAS
12
Development Leptin signaling via JAK/STAT and MAPK cascades
Hide members
7.6RAF1, SOS1, PTPN11, MAP2K1, HRAS
137.6MAP2K1, SOS1, HRAS, RAF1, KRAS, MAP2K2
14
Hide members
7.6SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
15
Hide members
7.6MAP2K2, MAP2K1, HRAS, RAF1, KRAS, SOS1
16
Hide members
7.6MAP2K2, MAP2K1, HRAS, SOS1, KRAS, RAF1
17
Hide members
7.2RAF1, MAP2K1, KRAS, MAP2K2, HRAS, SOS1
18
Hide members
7.2BRAF, MAP2K2, MAP2K1, SOS1, HRAS, RAF1
19
Hide members
7.2BRAF, MAP2K1, HRAS, RAF1, KRAS, MAP2K2
20
Hide members
7.2MAP2K1, RAF1, KRAS, HRAS, MAP2K2, SOS1
21
Hide members
7.2MAP2K2, SOS1, BRAF, MAP2K1, HRAS, KRAS
22
Hide members
7.2KRAS, BRAF, MAP2K1, MAP2K2, SOS1, RAF1
23
Hide members
7.2SOS1, MAP2K1, MAP2K2, HRAS, RAF1, KRAS
24
Hide members
7.2SOS1, BRAF, KRAS, RAF1, HRAS, MAP2K1
25
Hide members
7.2SOS1, MAP2K2, MAP2K1, HRAS, RAF1, PTPN11
26
Immune response IL-6 signaling pathway
Hide members
7.2PTPN11, RAF1, HRAS, MAP2K1, MAP2K2, SOS1
277.2SOS1, HRAS, RAF1, MAP2K1, MAP2K2, PTPN11
287.2HRAS, RAF1, PTPN11, MAP2K2, SOS1, MAP2K1
297.2MAP2K2, PTPN11, RAF1, HRAS, MAP2K1, SOS1
30
Immune response IL-2 activation and signaling pathway
Hide members
7.2MAP2K2, HRAS, RAF1, PTPN11, MAP2K1, SOS1
31
Development EPO-induced Jak-STAT pathway
Hide members
7.2MAP2K2, PTPN11, RAF1, HRAS, MAP2K1, SOS1
32
Hide members
7.2MAP2K2, PTPN11, RAF1, SOS1, HRAS, MAP2K1
336.9PTPN11, KRAS, RAF1, MAP2K1, MAP2K2, SOS1
34
Hide members
6.7PTPN11, KRAS, RAF1, HRAS, MAP2K2, SOS1
35
Hide members
6.7KRAS, RAF1, PTPN11, HRAS, MAP2K1, SOS1
366.7PTPN11, MAP2K1, KRAS, RAF1, HRAS, MAP2K2
37
Development Prolactin receptor signaling
Hide members
6.7MAP2K1, SOS1, PTPN11, MAP2K2, HRAS, RAF1
38
Hide members
6.7RAF1, HRAS, MAP2K1, MAP2K2, KRAS, PTPN11
39
Hide members
6.7RAF1, HRAS, MAP2K2, SOS1, MAP2K1, KRAS
40
Hide members
6.7PTPN11, MAP2K2, KRAS, RAF1, HRAS, MAP2K1
41
Hide members
6.7SOS1, MAP2K2, MAP2K1, HRAS, PTPN11, KRAS
42
Hide members
6.4BRAF, SOS1, MAP2K2, MAP2K1, PTPN11, KRAS
43
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
6.4PTPN11, KRAS, RAF1, HRAS, MAP2K1, MAP2K2
44
Hide members
6.4PTPN11, MAP2K2, MAP2K1, HRAS, KRAS, BRAF
45
Translation Insulin regulation of translation
Hide members
6.4MAP2K1, PTPN11, KRAS, RAF1, HRAS, MAP2K2
46
Hide members
6.4BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1
47
Hide members
6.4MAP2K2, MAP2K1, HRAS, RAF1, KRAS, PTPN11
486.4SOS1, BRAF, MAP2K2, MAP2K1, PTPN11, KRAS
49
Hide members
6.4MAP2K1, RAF1, KRAS, HRAS, MAP2K2, SOS1
50
Hide members
6.4SOS1, BRAF, MAP2K2, MAP2K1, PTPN11, KRAS

Compounds for genes affiliated with Cardiofaciocutaneous Syndrome

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44Novoseek, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 11DrugBank
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Compounds related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1adp44 28 2412.0MAP2K2, MAP2K1
2sb 5908855910.0RAF1, BRAF
3gdc 08795910.0BRAF, RAF1
4l-779,4505910.0BRAF, RAF1
5panitumumab44 49 1112.0BRAF, KRAS
6gw 50745910.0BRAF, RAF1
7gw-5074449.9BRAF, RAF1
8zm 33637244 5910.9BRAF, RAF1
9Dabrafenib119.8RAF1, BRAF
10o6-methylguanine449.7KRAS, BRAF
11gppnhp449.7HRAS, RAF1
12Regorafenib119.6BRAF, RAF1
1317-(allylamino)-17-demethoxygeldanamycin449.6MAP2K1, RAF1, BRAF
14crcs449.5KRAS, BRAF, HRAS
15pd-184352449.5MAP2K1, RAF1, KRAS
16phosphorothioate449.5HRAS, RAF1
17manumycin449.4MAP2K1, RAF1, HRAS
18lovastatin44 49 59 28 1113.3RAF1, MAP2K1, HRAS
19gf 109203x44 5910.2RAF1, MAP2K1, HRAS
20ag 1478449.0MAP2K1, PTPN11, RAF1
21valine449.0KRAS, HRAS, RAF1, BRAF
2212-o-tetradecanoylphorbol 13-acetate449.0BRAF, MAP2K1, HRAS, RAF1
23gp 130449.0MAP2K1, PTPN11, HRAS
24cyclic amp44 249.8RAF1, BRAF, MAP2K1, HRAS
25pd 98,059448.7HRAS, RAF1, MAP2K1, MAP2K2, BRAF
26sb 20358044 599.7PTPN11, BRAF, MAP2K1, RAF1
27phenylalanine448.7HRAS, PTPN11, BRAF
28forskolin44 49 1110.7PTPN11, MAP2K1, BRAF, RAF1
29paclitaxel44 49 1110.6HRAS, MAP2K1, BRAF, KRAS, RAF1
30herbimycin a44 599.6HRAS, RAF1, PTPN11, MAP2K1
31phosphotyrosine448.6RAF1, PTPN11, HRAS, MAP2K1
32retinoic acid44 249.5MAP2K1, HRAS, KRAS, RAF1, BRAF
33gtp44 289.4HRAS, SOS1, RAF1, KRAS, BRAF
34thymidine44 249.4RAF1, PTPN11, MAP2K1, HRAS
35imatinib44 49 1110.4MAP2K1, BRAF, RAF1, PTPN11, KRAS
36agar448.3HRAS, PTPN11, RAF1, BRAF, MAP2K1
37oligonucleotide448.2BRAF, PTPN11, KRAS, RAF1, HRAS
38h2o2448.1KRAS, RAF1, HRAS, MAP2K1, PTPN11
39arginine448.1PTPN11, HRAS, MAP2K1, BRAF
40threonine447.9MAP2K2, MAP2K1, BRAF, HRAS, RAF1, PTPN11
41rapamycin447.8RAF1, PTPN11, KRAS, BRAF, MAP2K1, HRAS
42ly294002447.8BRAF, PTPN11, KRAS, RAF1, HRAS, MAP2K1
43cisplatin44 49 59 1110.8BRAF, RAF1, MAP2K1, HRAS, PTPN11, KRAS
44vegf447.8MAP2K1, HRAS, RAF1, KRAS, PTPN11, BRAF
45lipid447.8SOS1, HRAS, KRAS, BRAF, PTPN11
46wortmannin447.5KRAS, BRAF, MAP2K2, MAP2K1, HRAS, RAF1
47phosphoinositide447.5MAP2K2, KRAS, RAF1, BRAF, PTPN11, HRAS
48phosphatidylinositol446.9MAP2K1, MAP2K2, SOS1, PTPN11, HRAS, RAF1
49serine446.8MAP2K1, HRAS, SOS1, BRAF, KRAS, PTPN11
50tyrosine446.8PTPN11, BRAF, MAP2K2, MAP2K1, HRAS, RAF1

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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16Gene Ontology
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Cellular components related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.6KRAS, RAF1, HRAS, MAP2K1, SOS1, BRAF
2cytosolGO:0058296.6PTPN11, BRAF, SOS1, MAP2K2, MAP2K1, HRAS

Biological processes related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1regulation of early endosome to late endosome transportGO:200064110.0MAP2K2, MAP2K1
2regulation of Golgi inheritanceGO:09017010.0MAP2K2, MAP2K1
3regulation of stress-activated MAPK cascadeGO:0328729.9MAP2K2, MAP2K1
4positive regulation of protein serine/threonine kinase activityGO:0719029.8MAP2K1, MAP2K2
5positive regulation of Rac protein signal transductionGO:0350229.8HRAS, KRAS
6regulation of synaptic transmission, GABAergicGO:0322289.7HRAS, KRAS
7striated muscle cell differentiationGO:0511469.7KRAS, HRAS
8regulation of long-term neuronal synaptic plasticityGO:0481699.6HRAS, KRAS
9cellular senescenceGO:0903989.6HRAS, MAP2K1
10social behaviorGO:0351769.5KRAS, HRAS
11visual learningGO:0085429.4HRAS, KRAS
12positive regulation of MAP kinase activityGO:0434069.2KRAS, HRAS
13activation of MAPK activityGO:0001879.1PTPN11, MAP2K1, MAP2K2
14MAPK cascadeGO:0001658.5MAP2K2, MAP2K1, HRAS, RAF1, KRAS
15signal transductionGO:0071658.4RAF1, HRAS, MAP2K1, SOS1
16leukocyte migrationGO:0509008.4PTPN11, KRAS, HRAS, SOS1
17activation of MAPKK activityGO:0001868.2BRAF, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
18Ras protein signal transductionGO:0072657.9SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
19blood coagulationGO:0075967.8SOS1, HRAS, RAF1, KRAS, PTPN11
20small GTPase mediated signal transductionGO:0072647.6BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1
21insulin receptor signaling pathwayGO:0082867.1SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
22Fc-epsilon receptor signaling pathwayGO:0380957.1SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
23epidermal growth factor receptor signaling pathwayGO:0071737.1SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
24axon guidanceGO:0074117.1SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
25innate immune responseGO:0450877.1SOS1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
26fibroblast growth factor receptor signaling pathwayGO:0085436.8PTPN11, BRAF, KRAS, RAF1, HRAS, MAP2K1
27neurotrophin TRK receptor signaling pathwayGO:0480116.8BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1

Molecular functions related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:0435399.8MAP2K1, MAP2K2
2protein serine/threonine/tyrosine kinase activityGO:0047129.7MAP2K1, MAP2K2
3MAP kinase kinase activityGO:0047089.6MAP2K1, MAP2K2
4Ras GTPase bindingGO:0170169.5MAP2K1, RAF1
5protein serine/threonine kinase activityGO:0046749.0RAF1, MAP2K1, MAP2K2, BRAF
6protein kinase activityGO:0046728.9RAF1, MAP2K1, BRAF
7protein bindingGO:0055156.5BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1

Products for genes affiliated with Cardiofaciocutaneous Syndrome

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Sources for Cardiofaciocutaneous Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
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44Novoseek
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50PubMed
51QIAGEN
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60UMLS
61UMLS via Orphanet