MCID: CRD013
MIFTS: 61

Cardiofaciocutaneous Syndrome malady

Neuronal, Skin, Fetal, Cardiovascular categories

Summaries for Cardiofaciocutaneous Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and hypertelorism. 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 gdc 0879 have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, 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:64 Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder. more...

Description from OMIM:47 115150,615278,615279,615280

GeneReviews summary for cfc

Aliases & Classifications for Cardiofaciocutaneous Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 45Novoseek, 22GTR, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Skin, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
cardiofaciocutaneous syndrome:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

cardiofaciocutaneous syndrome 19 43 20 21 47 49
cfc syndrome 19 43 21 45 49
cardio-facio-cutaneous syndrome 43 22 21 61
congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure 43


External Ids:

MESH via Orphanet36 C535579
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 403770008
UMLS via Orphanet62 C1275081

Related Diseases for Cardiofaciocutaneous Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Cardiofaciocutaneous Syndrome family:

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 89)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome30.3PTPN11, KRAS, RAF1, HRAS, MAP2K1, MAP2K2
2hypertrophic cardiomyopathy30.0PTPN11
3leopard syndrome30.0PTPN11, RAF1, HRAS, SOS1
4costello syndrome30.0KRAS, MAP2K1, HRAS, PTPN11, MAP2K2, SOS1
5n syndrome10.4
6status epilepticus10.3
7retinitis pigmentosa10.3
8young syndrome10.3
9cardiomyopathy, familial hypertrophic, 2010.3
10cardiomyopathy, dilated, 1jj10.3
11cardiomyopathy, familial hypertrophic, 1810.3
12cardiofaciocutaneous syndrome 310.3
13noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.2
14braf-related cardiofaciocutaneous syndrome10.2
15map2k1-related cardiofaciocutaneous syndrome10.2
16kras-related cardiofaciocutaneous syndrome10.2
17map2k2-related cardiofaciocutaneous syndrome10.2
18cardiofaciocutaneous syndrome 210.2
19cardiofaciocutaneous syndrome 410.2
20char syndrome10.1
21woolly hair, autosomal dominant10.1
22hypotrichosis 810.1
23astrocytoma10.0HRAS
24multiple myeloma10.0HRAS
25noonan syndrome 510.0RAF1
26murray valley encephalitis10.0RAF1
27osteosarcoma10.0MAP2K1
28thyroid cancer10.0HRAS, BRAF
29myeloma10.0HRAS, MAP2K1
30thyroid adenoma10.0RAF1, BRAF
31spitz nevus10.0BRAF, HRAS
32familial adenomatous polyposis10.0KRAS, BRAF
33pancreatitis10.0KRAS, HRAS
34nodular goiter10.0HRAS, BRAF
35endometrial carcinoma10.0KRAS, BRAF
36encephalitis10.0RAF1
37papilloma10.0HRAS, MAP2K1
38dengue disease10.0KRAS, RAF1
39exanthem10.0HRAS, KRAS
40anthrax disease10.0MAP2K1, MAP2K2, BRAF
41large cell carcinoma10.0HRAS, KRAS
42polycystic kidney disease, autosomal dominant10.0BRAF, RAF1
43factor vii deficiency10.0KRAS, RAF1
44rhabdomyosarcoma10.0PTPN11, MAP2K1
45skin benign neoplasm10.0HRAS, BRAF
46yellow fever10.0RAF1, KRAS
47cervical cancer10.0BRAF, KRAS
48fibrosarcoma10.0MAP2K1, RAF1
49cholangiocarcinoma10.0KRAS, RAF1, BRAF
50thyroid medullary carcinoma10.0RAF1, BRAF

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



Diseases related to cardiofaciocutaneous syndrome

Clinical Features for Cardiofaciocutaneous Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

115150,615278,615279,615280

Clinical synopsis from OMIM:

115150

Symptoms:

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

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

33
Skin, Heart

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cardiofaciocutaneous Syndrome

Sources:
51PubMed
See all sources

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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cardiofaciocutaneous Syndrome:

63 (show all 24)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 60Tocris Bioscience, 54Reactome, 53R&D Systems, 52QIAGEN, 50PharmGKB, 4Cell Signaling Technology
See all sources

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

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1adp45 29 2412.0MAP2K1, MAP2K2
2gdc 08796010.0BRAF, RAF1
3l-779,4506010.0BRAF, RAF1
4gw 50746010.0BRAF, RAF1
5panitumumab45 50 1112.0KRAS, BRAF
6sb 5908856010.0BRAF, RAF1
7gw-5074459.9BRAF, RAF1
8zm 33637245 6010.9RAF1, BRAF
9Dabrafenib119.8BRAF, RAF1
10Regorafenib119.7BRAF, RAF1
11o6-methylguanine459.7KRAS, BRAF
12gppnhp459.7RAF1, HRAS
1317-(allylamino)-17-demethoxygeldanamycin459.6BRAF, MAP2K1, RAF1
14crcs459.5KRAS, HRAS, BRAF
15pd-184352459.5KRAS, RAF1, MAP2K1
16phosphorothioate459.4HRAS, RAF1
17manumycin459.4RAF1, HRAS, MAP2K1
18lovastatin45 50 60 29 1113.3RAF1, HRAS, MAP2K1
19gf 109203x45 6010.2RAF1, HRAS, MAP2K1
20ag 1478459.0MAP2K1, RAF1, PTPN11
21valine459.0BRAF, HRAS, RAF1, KRAS
2212-o-tetradecanoylphorbol 13-acetate459.0BRAF, MAP2K1, HRAS, RAF1
23gp 130459.0MAP2K1, HRAS, PTPN11
24cyclic amp45 249.8RAF1, HRAS, MAP2K1, BRAF
25pd 98,059458.7BRAF, MAP2K2, MAP2K1, HRAS, RAF1
26sb 20358045 609.7PTPN11, RAF1, MAP2K1, BRAF
27phenylalanine458.7PTPN11, HRAS, BRAF
28forskolin45 50 1110.7BRAF, MAP2K1, RAF1, PTPN11
29paclitaxel45 50 1110.6BRAF, MAP2K1, HRAS, RAF1, KRAS
30herbimycin a45 609.6MAP2K1, HRAS, RAF1, PTPN11
31phosphotyrosine458.6PTPN11, RAF1, HRAS, MAP2K1
32retinoic acid45 249.5KRAS, RAF1, HRAS, MAP2K1, BRAF
33gtp45 299.4BRAF, SOS1, HRAS, RAF1, KRAS
34thymidine45 249.4MAP2K1, HRAS, RAF1, PTPN11
35imatinib45 50 1110.4BRAF, MAP2K1, RAF1, KRAS, PTPN11
36agar458.3BRAF, MAP2K1, HRAS, RAF1, PTPN11
37oligonucleotide458.2BRAF, HRAS, RAF1, KRAS, PTPN11
38h2o2458.1MAP2K1, HRAS, RAF1, KRAS, PTPN11
39arginine458.1BRAF, MAP2K1, HRAS, PTPN11
40threonine457.9BRAF, MAP2K2, MAP2K1, HRAS, RAF1, PTPN11
41rapamycin457.8BRAF, MAP2K1, HRAS, RAF1, KRAS, PTPN11
42ly294002457.8BRAF, MAP2K1, HRAS, RAF1, KRAS, PTPN11
43cisplatin45 50 60 1110.8BRAF, MAP2K1, HRAS, RAF1, KRAS, PTPN11
44vegf457.8BRAF, MAP2K1, HRAS, RAF1, KRAS, PTPN11
45lipid457.8BRAF, SOS1, HRAS, KRAS, PTPN11
46wortmannin457.5PTPN11, BRAF, MAP2K2, MAP2K1, HRAS, RAF1
47phosphoinositide457.5BRAF, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
48phosphatidylinositol456.9BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1
49serine456.8BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1
50tyrosine456.8BRAF, SOS1, MAP2K2, MAP2K1, HRAS, RAF1

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiofaciocutaneous Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet