MCID: CRD013
MIFTS: 72

Cardiofaciocutaneous Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Cardiofaciocutaneous Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 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 costello syndrome and leukemia, 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 Sorafenib Pharmacodynamics and mTOR Pathway. The compounds gdc 0879 and l-779,450 have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and testes, and related mouse phenotypes are liver/biliary system and respiratory system.

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:65 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

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 45Novoseek, 22GTR, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cardiofaciocutaneous syndrome:
Inheritance: Autosomal dominant; 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 62
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 Orphanet59 403770008
UMLS via Orphanet63 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 86)
idRelated DiseaseScoreTop Affiliating Genes
1costello syndrome30.2HRAS, KRAS, MAP2K1, MAP2K2, BRAF, SOS1
2leukemia30.0PTPN11, MAP2K1, RAF1, KRAS, HRAS
3noonan syndrome29.9PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
4status epilepticus10.3
5retinitis pigmentosa10.3
6hemangioma10.3
7hepatoblastoma10.3
8cardiomyopathy, familial hypertrophic, 2010.3
9cardiomyopathy, dilated, 1jj10.3
10cardiomyopathy, familial hypertrophic, 1810.3
11cardiofaciocutaneous syndrome 310.3
12neuropathy10.2
13peripheral neuropathy10.2
14noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.2
15braf-related cardiofaciocutaneous syndrome10.2
16map2k1-related cardiofaciocutaneous syndrome10.2
17kras-related cardiofaciocutaneous syndrome10.2
18map2k2-related cardiofaciocutaneous syndrome10.2
19cardiofaciocutaneous syndrome 210.2
20cardiofaciocutaneous syndrome 410.2
21noonan syndrome 110.1PTPN11
22leopard syndrome 110.1PTPN11
23neurofibromatosis-noonan syndrome10.1PTPN11
24tetralogy of fallot10.1
25hypertrophic cardiomyopathy10.1
26non-hodgkin lymphoma10.1
27retinitis10.1
28woolly hair, autosomal dominant10.1
29hypotrichosis 810.1
30cystadenoma10.1KRAS, BRAF
31lynch syndrome10.1BRAF, KRAS
32yellow fever10.0RAF1, KRAS
33spitz nevus10.0BRAF, HRAS
34dengue disease10.0KRAS, RAF1
35anthrax disease10.0BRAF, MAP2K2, MAP2K1
36nodular goiter10.0HRAS, BRAF
37endometrial carcinoma10.0KRAS, BRAF
38thyroid adenoma10.0BRAF, RAF1
39exanthem10.0HRAS, KRAS
40gallbladder cancer10.0KRAS, HRAS
41large cell carcinoma10.0HRAS, KRAS
42polycystic kidney disease, autosomal dominant10.0BRAF, RAF1
43thyroid medullary carcinoma10.0RAF1, BRAF
44factor vii deficiency10.0RAF1, KRAS
45cholangiocarcinoma10.0KRAS, RAF1, BRAF
46pulmonary valve stenosis10.0PTPN11, SOS1
47pancreatic cancer10.0KRAS, RAF1, MAP2K1
48non-small cell lung carcinoma10.0BRAF, KRAS, HRAS
49papillary thyroid carcinoma10.0BRAF, RAF1, HRAS
50skin benign neoplasm10.0BRAF, HRAS

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



Diseases related to cardiofaciocutaneous syndrome

Symptoms for Cardiofaciocutaneous Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

115150

Clinical features from OMIM:

115150,615278,615279,615280

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

33
Skin, Heart, Testes, Bone, Eye

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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37MGI
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Publications for Cardiofaciocutaneous Syndrome

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52PubMed
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Articles related to Cardiofaciocutaneous Syndrome:

(show all 24)
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
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
15
The cardiofaciocutaneous syndrome. (16825433)
2006
16
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
17
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
18
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
19
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
20
Cardiofaciocutaneous syndrome. (8420490)
1993
21
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
22
Cardiofaciocutaneous Syndrome (20301365)
1993
23
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992
24
Cardiofaciocutaneous syndrome. (1342862)
1992

Variations for Cardiofaciocutaneous Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome:

64 (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

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.101C> G (p.Pro34Arg)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
2MAP2K1NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys)single nucleotide variantPathogenicrs121908595GRCh37Chr 15, 66729181: 66729181
3MAP2K1NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val)single nucleotide variantPathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
4BRAFNM_004333.4(BRAF): c.736G> C (p.Ala246Pro)single nucleotide variantPathogenicrs180177034GRCh37Chr 7, 140501336: 140501336
5BRAFNM_004333.4(BRAF): c.770A> G (p.Gln257Arg)single nucleotide variantPathogenicrs180177035GRCh37Chr 7, 140501302: 140501302
6BRAFNM_004333.4(BRAF): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs121913355GRCh37Chr 7, 140481402: 140481402
7BRAFNM_004333.4(BRAF): c.1455G> C (p.Leu485Phe)single nucleotide variantPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
8BRAFNM_004333.4(BRAF): c.1495A> G (p.Lys499Glu)single nucleotide variantPathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
9BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)single nucleotide variantPathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
10BRAFNM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)single nucleotide variantPathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
11BRAFNM_004333.4(BRAF): c.1741A> G (p.Asn581Asp)single nucleotide variantPathogenicrs180177040GRCh37Chr 7, 140453987: 140453987
12BRAFNM_004333.4(BRAF): c.1600G> C (p.Gly534Arg)single nucleotide variantPathogenicrs180177041GRCh37Chr 7, 140476806: 140476806
13BRAFNM_004333.4(BRAF): c.1914T> A (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
14BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
15BRAFNM_004333.4(BRAF): c.730A> C (p.Thr244Pro)single nucleotide variantPathogenicrs397507465GRCh37Chr 7, 140501342: 140501342
16BRAFNM_004333.4(BRAF): c.735A> C (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
17BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
18BRAFNM_004333.4(BRAF): c.769C> A (p.Gln257Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397507469GRCh37Chr 7, 140501303: 140501303
19BRAFNM_004333.4(BRAF): c.1403T> C (p.Phe468Ser)single nucleotide variantPathogenicrs397507473GRCh37Chr 7, 140481405: 140481405
20BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
21BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)single nucleotide variantLikely pathogenic, Pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
22MAP2K1NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His)single nucleotide variantPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
23MAP2K1NM_002755.3(MAP2K1): c.124C> T (p.Leu42Phe)single nucleotide variantPathogenicrs397516789GRCh37Chr 15, 66727408: 66727408
24BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)single nucleotide variantPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
25MAP2K2NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His)single nucleotide variantLikely pathogenic, Pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557

Expression for genes affiliated with Cardiofaciocutaneous Syndrome

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2BioGPS, 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:
50PathCards, 51PharmGKB, 61Tocris Bioscience, 53QIAGEN, 30KEGG, 55Reactome, 54R&D Systems, 38NCBI BioSystems Database, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 181)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.7MAP2K1, MAP2K2, RAF1, KRAS, HRAS, BRAF
2
Show member pathways
7.7BRAF, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
37.7HRAS, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
4
Show member pathways
7.7MAP2K2, BRAF, RAF1, KRAS, HRAS, MAP2K1
57.5BRAF, MAP2K2, SOS1, MAP2K1, RAF1, KRAS
67.4SOS1, HRAS, RAF1, MAP2K1, MAP2K2, BRAF
7
Show member pathways
7.4HRAS, MAP2K1, RAF1, BRAF, SOS1, MAP2K2
8
Show member pathways
7.4HRAS, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
9
Show member pathways
7.3SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
10
Show member pathways
7.3RAF1, MAP2K1, KRAS, SOS1, MAP2K2, HRAS
11
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
7.2SOS1, MAP2K2, MAP2K1, PTPN11, RAF1, HRAS
127.2PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, HRAS
137.2HRAS, PTPN11, SOS1, MAP2K2, MAP2K1, RAF1
147.2HRAS, PTPN11, RAF1, MAP2K2, MAP2K1, SOS1
157.2SOS1, HRAS, RAF1, MAP2K1, MAP2K2, PTPN11
16
Show member pathways
IL-2 Signaling pathway38
7.2HRAS, PTPN11, SOS1, MAP2K2, MAP2K1, RAF1
17
Show member pathways
Immune response IL 3 activation and signaling pathway60
7.2MAP2K2, HRAS, RAF1, MAP2K1, SOS1, PTPN11
18
Show member pathways
Development Flt3 signaling60
7.2SOS1, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
19
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
7.2MAP2K2, MAP2K1, RAF1, HRAS, PTPN11, SOS1
20
Show member pathways
7.0BRAF, SOS1, PTPN11, RAF1, MAP2K1, MAP2K2
21
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
6.9KRAS, SOS1, RAF1, MAP2K1, MAP2K2, BRAF
22
Show member pathways
Signal transduction PTEN pathway60
6.9SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
23
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
6.9SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
24
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
6.9MAP2K1, MAP2K2, BRAF, SOS1, HRAS, KRAS
25
Show member pathways
6.9HRAS, KRAS, RAF1, SOS1, BRAF, MAP2K2
26
Show member pathways
MAPK signaling pathway38
6.9MAP2K1, RAF1, KRAS, HRAS, MAP2K2, BRAF
27
Show member pathways
6.9SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
28
Show member pathways
Signaling Pathways in Glioblastoma38
6.9HRAS, SOS1, BRAF, RAF1, MAP2K1, MAP2K2
29
Show member pathways
6.9MAP2K2, RAF1, MAP2K1, KRAS, HRAS, SOS1
30
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
6.7RAF1, MAP2K1, MAP2K2, SOS1, PTPN11, HRAS
31
Show member pathways
6.7KRAS, RAF1, MAP2K1, MAP2K2, SOS1, PTPN11
326.7MAP2K1, MAP2K2, SOS1, RAF1, KRAS, HRAS
33
Show member pathways
6.7MAP2K2, RAF1, KRAS, HRAS, MAP2K1, SOS1
34
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
6.7HRAS, KRAS, RAF1, MAP2K1, MAP2K2, SOS1
35
Show member pathways
6.7MAP2K2, MAP2K1, RAF1, KRAS, HRAS, SOS1
36
Show member pathways
6.7HRAS, RAF1, MAP2K1, MAP2K2, PTPN11, KRAS
37
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
6.7HRAS, MAP2K2, PTPN11, SOS1, MAP2K1, RAF1
38
Show member pathways
6.7RAF1, PTPN11, SOS1, MAP2K1, HRAS, MAP2K2
39
Show member pathways
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, KRAS
406.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
41
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
42
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
6.4KRAS, RAF1, MAP2K1, MAP2K2, HRAS, PTPN11
43
Show member pathways
Immune response CD16 signaling in NK cells60
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
44
Show member pathways
6.4BRAF, SOS1, PTPN11, HRAS, KRAS, RAF1
456.4HRAS, KRAS, RAF1, MAP2K1, MAP2K2, BRAF
46
Show member pathways
6.4PTPN11, KRAS, HRAS, RAF1, MAP2K1, MAP2K2
47
Show member pathways
6.4MAP2K1, RAF1, KRAS, HRAS, MAP2K2, BRAF
48
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
6.4HRAS, RAF1, MAP2K1, MAP2K2, BRAF, SOS1
49
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
6.4RAF1, PTPN11, KRAS, HRAS, MAP2K2, BRAF
50
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
6.4MAP2K2, BRAF, SOS1, PTPN11, HRAS, KRAS

Compounds for genes affiliated with Cardiofaciocutaneous Syndrome

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Sources:
61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

Compounds related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1gdc 08796110.0BRAF, RAF1
2l-779,4506110.0BRAF, RAF1
3gw 5074619.9BRAF, RAF1
4sb 590885619.9BRAF, RAF1
5gw-5074459.9RAF1, BRAF
6panitumumab45 51 1111.9KRAS, BRAF
7zm 33637261 4510.9BRAF, RAF1
8trametinib51 1110.8MAP2K1, MAP2K2, BRAF
917-(allylamino)-17-demethoxygeldanamycin459.6RAF1, MAP2K1, BRAF
10regorafenib51 1110.5KRAS, RAF1, BRAF
11dabrafenib51 1110.5RAF1, BRAF
12pd-184352459.5MAP2K1, RAF1, KRAS
13crcs459.4BRAF, KRAS, HRAS
14gppnhp459.4HRAS, RAF1
15manumycin459.3MAP2K1, RAF1, HRAS
16ag 1478459.3RAF1, MAP2K1, PTPN11
17gp 130459.1PTPN11, MAP2K1, HRAS
18lovastatin45 51 61 29 1113.1HRAS, RAF1, MAP2K1
19gf 109203x45 6110.0MAP2K1, RAF1, HRAS
20sb 20358045 6110.0PTPN11, BRAF, MAP2K1, RAF1
21phenylalanine459.0HRAS, BRAF, PTPN11
2212-o-tetradecanoylphorbol 13-acetate458.9HRAS, RAF1, MAP2K1, BRAF
23forskolin45 51 1110.9PTPN11, BRAF, MAP2K1, RAF1
24valine458.9BRAF, RAF1, KRAS, HRAS
25herbimycin a45 619.8HRAS, RAF1, MAP2K1, PTPN11
26phosphotyrosine458.8PTPN11, MAP2K1, RAF1, HRAS
27imatinib45 51 1110.7PTPN11, BRAF, MAP2K1, RAF1, KRAS
28adp45 29 2410.6PTPN11, BRAF, MAP2K2, MAP2K1, RAF1
29pd 98,059458.6HRAS, RAF1, MAP2K1, MAP2K2, BRAF
30cyclic amp45 249.6BRAF, MAP2K1, RAF1, HRAS
31thymidine45 249.6PTPN11, MAP2K1, RAF1, HRAS
32paclitaxel45 51 1110.5BRAF, MAP2K1, RAF1, KRAS, HRAS
33agar458.5PTPN11, BRAF, MAP2K1, RAF1, HRAS
34estrogen458.4BRAF, MAP2K1, RAF1, KRAS, HRAS
35retinoic acid45 249.4HRAS, KRAS, RAF1, MAP2K1, BRAF
36oligonucleotide458.4PTPN11, BRAF, RAF1, KRAS, HRAS
37h2o2458.3HRAS, KRAS, RAF1, MAP2K1, PTPN11
38arginine458.3PTPN11, BRAF, MAP2K1, HRAS
39gtp45 299.1SOS1, BRAF, RAF1, KRAS, HRAS
40threonine458.1PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, HRAS
41rapamycin458.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
42ly294002458.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
43cisplatin45 51 61 1111.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
44vegf458.0PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
45lipid457.9HRAS, KRAS, BRAF, SOS1, PTPN11
46wortmannin457.7PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
47phosphoinositide457.7PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
48phosphatidylinositol456.9HRAS, PTPN11, SOS1, BRAF, MAP2K2, MAP2K1
49serine456.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
50tyrosine456.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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Sources:
16Gene Ontology
See all sources

Cellular components related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.7KRAS, MAP2K1, MAP2K2, PTPN11
2Golgi apparatusGO:0057948.4MAP2K2, MAP2K1, RAF1, HRAS
3plasma membraneGO:0058867.0SOS1, BRAF, MAP2K1, RAF1, KRAS, HRAS
4cytosolGO:0058296.9HRAS, RAF1, MAP2K1, MAP2K2, BRAF, SOS1

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

(show all 31)
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:03287210.0MAP2K2, MAP2K1
4positive regulation of protein serine/threonine kinase activityGO:0719029.9MAP2K1, MAP2K2
5positive regulation of Rac protein signal transductionGO:0350229.7KRAS, HRAS
6regulation of synaptic transmission, GABAergicGO:0322289.6HRAS, KRAS
7striated muscle cell differentiationGO:0511469.6HRAS, KRAS
8cellular senescenceGO:0903989.6MAP2K1, HRAS
9regulation of long-term neuronal synaptic plasticityGO:0481699.5KRAS, HRAS
10positive regulation of gene expressionGO:0106289.5BRAF, MAP2K1, KRAS
11activation of MAPK activityGO:0001879.5MAP2K1, MAP2K2, PTPN11
12protein heterooligomerizationGO:0512919.4HRAS, MAP2K1, BRAF
13social behaviorGO:0351769.4KRAS, HRAS
14positive regulation of MAP kinase activityGO:0434069.4HRAS, KRAS
15negative regulation of neuron apoptotic processGO:0435249.3HRAS, KRAS, BRAF
16visual learningGO:0085429.1HRAS, KRAS
17cell proliferationGO:0082838.8HRAS, RAF1, MAP2K1
18MAPK cascadeGO:0001658.4MAP2K2, MAP2K1, RAF1, KRAS, HRAS
19leukocyte migrationGO:0509008.4HRAS, KRAS, SOS1, PTPN11
20signal transductionGO:0071658.2HRAS, RAF1, MAP2K1, SOS1
21activation of MAPKK activityGO:0001868.1BRAF, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
22blood coagulationGO:0075967.9PTPN11, SOS1, RAF1, KRAS, HRAS
23Ras protein signal transductionGO:0072657.6SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
24small GTPase mediated signal transductionGO:0072647.3SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
25insulin receptor signaling pathwayGO:0082867.1HRAS, KRAS, RAF1, MAP2K1, MAP2K2, SOS1
26Fc-epsilon receptor signaling pathwayGO:0380957.1KRAS, RAF1, MAP2K1, MAP2K2, SOS1, PTPN11
27epidermal growth factor receptor signaling pathwayGO:0071737.1PTPN11, HRAS, KRAS, RAF1, MAP2K1, MAP2K2
28axon guidanceGO:0074117.1PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, KRAS
29innate immune responseGO:0450877.1PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, KRAS
30fibroblast growth factor receptor signaling pathwayGO:0085436.8HRAS, KRAS, RAF1, MAP2K1, MAP2K2, BRAF
31neurotrophin TRK receptor signaling pathwayGO:0480116.8BRAF, SOS1, PTPN11, MAP2K2, MAP2K1, HRAS

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:0435399.8MAP2K2, MAP2K1
2small GTPase bindingGO:0312679.7RAF1, BRAF
3MAP kinase kinase activityGO:0047089.7MAP2K1, MAP2K2
4mitogen-activated protein kinase kinase bindingGO:0314349.7RAF1, BRAF
5MAP kinase kinase kinase activityGO:0047099.6RAF1, BRAF
6protein serine/threonine/tyrosine kinase activityGO:0047129.4MAP2K1, MAP2K2
7protein kinase activityGO:0046729.1BRAF, MAP2K1, RAF1
8protein serine/threonine kinase activityGO:0046749.0RAF1, MAP2K1, MAP2K2, BRAF
9protein bindingGO:0055156.6HRAS, PTPN11, SOS1, BRAF, MAP2K2, MAP2K1

Products for genes affiliated with Cardiofaciocutaneous Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiofaciocutaneous Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet