MCID: CRD013
MIFTS: 62

Cardiofaciocutaneous Syndrome malady

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

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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 based summary: Cardiofaciocutaneous Syndrome, also known as cardio-facio-cutaneous syndrome, is related to leukemia and costello syndrome, and has symptoms including An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (v-raf murine sarcoma viral oncogene homolog B), and among its related pathways are mTOR Pathway and Sorafenib Pharmacodynamics. The compounds panitumumab and gdc 0879 have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, 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:46 115150

GeneReviews summary for cfc

Aliases & Classifications for Cardiofaciocutaneous Syndrome

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Cardiofaciocutaneous Syndrome, Aliases & Descriptions:

Name: Cardiofaciocutaneous Syndrome 19 42 20 21 46
Cardio-Facio-Cutaneous Syndrome 42 22 21 62
 
Cfc Syndrome 19 42 21 44
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities and Growth Failure 42


Classifications:



Related Diseases for Cardiofaciocutaneous Syndrome

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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
1leukemia29.5PTPN11, MAP2K1, RAF1, KRAS, HRAS
2costello syndrome29.1HRAS, KRAS, MAP2K1, MAP2K2, BRAF, SOS1
3noonan syndrome28.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
4noonan syndrome 110.5PTPN11
5leopard syndrome 110.4PTPN11
6neurofibromatosis-noonan syndrome10.4PTPN11
7hemangioma10.3
8retinitis pigmentosa10.3
9status epilepticus10.3
10hyperprolactinemia10.3
11hepatoblastoma10.3
12growth hormone deficiency10.3
13precocious puberty10.3
14cardiofaciocutaneous syndrome 310.3
15cardiofaciocutaneous syndrome 410.3
16cystadenoma10.3KRAS, BRAF
17neuropathy10.2
18peripheral neuropathy10.2
19noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.2
20braf-related cardiofaciocutaneous syndrome10.2
21map2k1-related cardiofaciocutaneous syndrome10.2
22kras-related cardiofaciocutaneous syndrome10.2
23map2k2-related cardiofaciocutaneous syndrome10.2
24cardiofaciocutaneous syndrome 210.2
25lynch syndrome10.2BRAF, KRAS
26yellow fever10.2RAF1, KRAS
27spitz nevus10.2BRAF, HRAS
28dengue disease10.2KRAS, RAF1
29anthrax disease10.2BRAF, MAP2K2, MAP2K1
30nodular goiter10.2HRAS, BRAF
31endometrial carcinoma10.2KRAS, BRAF
32thyroid adenoma10.2BRAF, RAF1
33exanthem10.2HRAS, KRAS
34gallbladder cancer10.1KRAS, HRAS
35large cell carcinoma10.1HRAS, KRAS
36non-hodgkin lymphoma10.1
37tetralogy of fallot10.1
38hypertrophic cardiomyopathy10.1
39retinitis10.1
40woolly hair, autosomal dominant10.1
41hypotrichosis 810.1
42polycystic kidney disease, autosomal dominant10.1BRAF, RAF1
43thyroid medullary carcinoma10.1RAF1, BRAF
44factor vii deficiency10.1RAF1, KRAS
45cholangiocarcinoma10.1KRAS, RAF1, BRAF
46pulmonary valve stenosis10.1PTPN11, 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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Symptoms by clinical synopsis from OMIM:

115150

Clinical features from OMIM:

115150

HPO human phenotypes related to Cardiofaciocutaneous Syndrome:

(show all 75)
id Description Frequency HPO Source Accession
1 peripheral axonal neuropathy rare (5%) HP:0003477
2 autosomal dominant inheritance HP:0000006
3 hydronephrosis HP:0000126
4 submucous cleft hard palate HP:0000176
5 open mouth HP:0000194
6 high palate HP:0000218
7 hydrocephalus HP:0000238
8 dolichocephaly HP:0000268
9 coarse facial features HP:0000280
10 epicanthus HP:0000286
11 hypertelorism HP:0000316
12 narrow forehead HP:0000341
13 micrognathia HP:0000347
14 posteriorly rotated ears HP:0000358
15 hearing impairment HP:0000365
16 low-set ears HP:0000369
17 bulbous nose HP:0000414
18 anteverted nares HP:0000463
19 strabismus HP:0000486
20 downslanted palpebral fissures HP:0000494
21 ptosis HP:0000508
22 proptosis HP:0000520
23 progressive visual loss HP:0000529
24 myopia HP:0000545
25 absent eyelashes HP:0000561
26 nystagmus HP:0000639
27 oculomotor apraxia HP:0000657
28 dental malocclusion HP:0000689
29 pectus excavatum HP:0000767
30 pectus carinatum HP:0000768
31 osteopenia HP:0000938
32 hyperkeratosis HP:0000962
33 multiple lentigines HP:0001003
34 atopic dermatitis HP:0001047
35 cavernous hemangioma HP:0001048
36 optic nerve dysplasia HP:0001093
37 hyperextensibility of the finger joints HP:0001187
38 intellectual disability HP:0001249
39 seizures HP:0001250
40 muscular hypotonia HP:0001252
41 hypertonia HP:0001276
42 failure to thrive HP:0001508
43 polyhydramnios HP:0001561
44 premature birth HP:0001622
45 defect in the atrial septum HP:0001631
46 hypertrophic cardiomyopathy HP:0001639
47 pulmonic stenosis HP:0001642
48 splenomegaly HP:0001744
49 deep philtrum HP:0002002
50 vomiting HP:0002013
51 constipation HP:0002019
52 gastroesophageal reflux HP:0002020
53 cerebral cortical atrophy HP:0002120
54 curly hair HP:0002212
55 slow-growing hair HP:0002217
56 absent eyebrow HP:0002223
57 delayed skeletal maturation HP:0002750
58 short nose HP:0003196
59 congenital onset HP:0003577
60 clinodactyly of the 5th finger HP:0004209
61 short stature HP:0004322
62 relative macrocephaly HP:0004482
63 depressed nasal bridge HP:0005280
64 multiple palmar creases HP:0006114
65 hypoplasia of the frontal lobes HP:0007333
66 aplasia/hypoplasia of the corpus callosum HP:0007370
67 ichthyosis HP:0008064
68 sparse hair HP:0008070
69 multiple plantar creases HP:0008113
70 feeding difficulties in infancy HP:0008872
71 underdeveloped supraorbital ridges HP:0009891
72 anterior creases of earlobe HP:0009908
73 open bite HP:0010807
74 prominent forehead HP:0011220
75 tongue thrusting HP:0100703

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome

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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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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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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:

32
Heart, Skin

Animal Models for Cardiofaciocutaneous Syndrome or affiliated genes

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Publications for Cardiofaciocutaneous Syndrome

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Articles related to Cardiofaciocutaneous Syndrome:

(show all 28)
idTitleAuthorsYear
1
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. (25346259)
2014
2
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. (25250515)
2014
3
The perinatal presentation of cardiofaciocutaneous syndrome. (24719372)
2014
4
Cardiofaciocutaneous syndrome. (24600094)
2013
5
My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC). (24166813)
2013
6
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation. (24303953)
2013
7
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. (24283439)
2013
8
Cardiofaciocutaneous syndrome: a rare entity. (22837569)
2012
9
Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. (21178588)
2011
10
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. (21062266)
2011
11
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. (20523244)
2011
12
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. (20186801)
2010
13
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. (19804494)
2010
14
Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts. (20518782)
2010
15
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (19206169)
2009
16
Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome. (18773675)
2008
17
The cardiofaciocutaneous syndrome: prenatal findings in two patients. (18022830)
2008
18
Peripheral neuropathy in cardiofaciocutaneous syndrome. (17437909)
2007
19
The cardiofaciocutaneous syndrome. (16825433)
2006
20
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. (16007634)
2005
21
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature. (15096145)
2004
22
CFC index for the diagnosis of cardiofaciocutaneous syndrome. (12239713)
2002
23
Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. (10528867)
1999
24
Cardiofaciocutaneous syndrome. (8420490)
1993
25
Retinal dystrophy in the cardiofaciocutaneous syndrome. (8410580)
1993
26
Cardiofaciocutaneous Syndrome (20301365)
1993
27
Cardiofaciocutaneous syndrome with new ectodermal manifestations. (1619641)
1992
28
Cardiofaciocutaneous syndrome. (1342862)
1992

Variations for Cardiofaciocutaneous Syndrome

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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:

6 (show all 32)
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 pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
17BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
18BRAFNM_004333.4(BRAF): c.769C> A (p.Gln257Lys)single nucleotide variantLikely 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 pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
21BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)single nucleotide variantLikely pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
22MAP2K1NM_002755.3(MAP2K1): c.371C> T (p.Pro124Leu)single nucleotide variantLikely pathogenicrs397516792GRCh37Chr 15, 66729163: 66729163
23MAP2K1NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His)single nucleotide variantPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
24MAP2K1NM_002755.3(MAP2K1): c.124C> T (p.Leu42Phe)single nucleotide variantPathogenicrs397516789GRCh37Chr 15, 66727408: 66727408
25BRAFNM_004333.4(BRAF): c.1442C> A (p.Ala481Glu)single nucleotide variantLikely pathogenicrs397516892GRCh37Chr 7, 140477866: 140477866
26BRAFNM_004333.4(BRAF): c.1460T> G (p.Val487Gly)single nucleotide variantLikely pathogenicrs397516893GRCh37Chr 7, 140477848: 140477848
27BRAFNM_004333.4(BRAF): c.1501G> C (p.Glu501Gln)single nucleotide variantLikely pathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
28BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)single nucleotide variantPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
29BRAFNM_004333.4(BRAF): c.1786G> T (p.Gly596Cys)single nucleotide variantLikely pathogenicrs121913361GRCh37Chr 7, 140453149: 140453149
30BRAFNM_004333.4(BRAF): c.1802A> C (p.Lys601Thr)single nucleotide variantLikely pathogenicrs397507484GRCh37Chr 7, 140453133: 140453133
31BRAFNM_004333.4(BRAF): c.785A> C (p.Gln262Pro)single nucleotide variantLikely pathogenicrs397516904GRCh37Chr 7, 140501287: 140501287
32MAP2K2NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His)single nucleotide variantLikely pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557

Expression for genes affiliated with Cardiofaciocutaneous Syndrome

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Expression patterns in normal tissues for genes affiliated with Cardiofaciocutaneous Syndrome

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Pathways for genes affiliated with Cardiofaciocutaneous Syndrome

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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
7.7BRAF, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
2
Show member pathways
7.7MAP2K1, MAP2K2, RAF1, KRAS, HRAS, BRAF
3
Show member pathways
7.7MAP2K2, BRAF, RAF1, KRAS, HRAS, MAP2K1
47.7HRAS, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
57.5BRAF, MAP2K2, SOS1, MAP2K1, RAF1, KRAS
6
Show member pathways
7.3HRAS, MAP2K1, RAF1, BRAF, SOS1, MAP2K2
77.3SOS1, HRAS, RAF1, MAP2K1, MAP2K2, BRAF
8
Show member pathways
7.3HRAS, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
9
Show member pathways
7.3RAF1, MAP2K1, KRAS, SOS1, MAP2K2, HRAS
10
Show member pathways
7.3SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
117.2HRAS, PTPN11, SOS1, MAP2K2, MAP2K1, RAF1
127.2SOS1, HRAS, RAF1, MAP2K1, MAP2K2, PTPN11
13
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
7.2SOS1, MAP2K2, MAP2K1, PTPN11, RAF1, HRAS
147.2PTPN11, SOS1, MAP2K2, MAP2K1, RAF1, HRAS
15
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
7.2MAP2K2, MAP2K1, RAF1, HRAS, PTPN11, SOS1
16
Show member pathways
IL-2 Signaling pathway37
7.2HRAS, PTPN11, SOS1, MAP2K2, MAP2K1, RAF1
177.2HRAS, PTPN11, RAF1, MAP2K2, MAP2K1, SOS1
18
Show member pathways
Immune response IL 3 activation and signaling pathway60
7.2MAP2K2, HRAS, RAF1, MAP2K1, SOS1, PTPN11
19
Show member pathways
Development Flt3 signaling60
7.2SOS1, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
20
Show member pathways
7.0BRAF, SOS1, PTPN11, RAF1, MAP2K1, MAP2K2
21
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
6.9SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
22
Show member pathways
Signal transduction PTEN pathway60
6.9SOS1, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
23
Show member pathways
6.9MAP2K2, RAF1, MAP2K1, KRAS, HRAS, SOS1
24
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
25
Show member pathways
6.9HRAS, KRAS, RAF1, SOS1, BRAF, MAP2K2
26
Show member pathways
Signaling Pathways in Glioblastoma37
6.9HRAS, SOS1, BRAF, RAF1, MAP2K1, MAP2K2
27
Show member pathways
6.9SOS1, MAP2K2, MAP2K1, RAF1, KRAS, HRAS
28
Show member pathways
MAPK signaling pathway37
6.9MAP2K1, RAF1, KRAS, HRAS, MAP2K2, BRAF
29
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
6.9MAP2K1, MAP2K2, BRAF, SOS1, HRAS, KRAS
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
6.7MAP2K2, MAP2K1, RAF1, KRAS, HRAS, SOS1
32
Show member pathways
6.7KRAS, RAF1, MAP2K1, MAP2K2, SOS1, PTPN11
33
Show member pathways
6.7HRAS, RAF1, MAP2K1, MAP2K2, PTPN11, KRAS
346.7MAP2K1, MAP2K2, SOS1, RAF1, KRAS, HRAS
35
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
6.7HRAS, MAP2K2, PTPN11, SOS1, MAP2K1, RAF1
36
Show member pathways
6.7MAP2K2, RAF1, KRAS, HRAS, MAP2K1, SOS1
37
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
6.7HRAS, KRAS, RAF1, MAP2K1, MAP2K2, SOS1
38
Show member pathways
6.7RAF1, PTPN11, SOS1, MAP2K1, HRAS, MAP2K2
39
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
6.4HRAS, RAF1, MAP2K1, MAP2K2, BRAF, SOS1
40
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
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
41
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
426.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
43
Show member pathways
Immune response CD16 signaling in NK cells60
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
44
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
6.4MAP2K2, BRAF, SOS1, PTPN11, HRAS, KRAS
45
Show member pathways
6.4PTPN11, KRAS, HRAS, RAF1, MAP2K1, MAP2K2
46
Show member pathways
6.4PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, KRAS
47
Show member pathways
6.4BRAF, SOS1, PTPN11, HRAS, KRAS, RAF1
486.4HRAS, KRAS, RAF1, MAP2K1, MAP2K2, BRAF
49
Show member pathways
6.4MAP2K1, RAF1, KRAS, HRAS, MAP2K2, BRAF
50
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 Receptor37
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

Compounds for genes affiliated with Cardiofaciocutaneous Syndrome

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Compounds related to Cardiofaciocutaneous Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1panitumumab44 50 1112.0KRAS, BRAF
2gdc 08796110.0BRAF, RAF1
3l-779,4506110.0BRAF, RAF1
4gw 5074619.9BRAF, RAF1
5sb 590885619.9BRAF, RAF1
6gw-5074449.9RAF1, BRAF
7zm 33637261 4410.9BRAF, RAF1
8trametinib50 1110.7MAP2K1, MAP2K2, BRAF
917-(allylamino)-17-demethoxygeldanamycin449.6RAF1, MAP2K1, BRAF
10regorafenib50 1110.6KRAS, RAF1, BRAF
11pd-184352449.6MAP2K1, RAF1, KRAS
12dabrafenib50 1110.5RAF1, BRAF
13crcs449.5BRAF, KRAS, HRAS
14gppnhp449.4HRAS, RAF1
15manumycin449.4MAP2K1, RAF1, HRAS
16ag 1478449.3RAF1, MAP2K1, PTPN11
17gp 130449.2PTPN11, MAP2K1, HRAS
18lovastatin44 50 61 28 1113.2HRAS, RAF1, MAP2K1
19gf 109203x44 6110.1MAP2K1, RAF1, HRAS
20sb 20358044 6110.1PTPN11, BRAF, MAP2K1, RAF1
21phenylalanine449.0HRAS, BRAF, PTPN11
2212-o-tetradecanoylphorbol 13-acetate449.0HRAS, RAF1, MAP2K1, BRAF
23forskolin44 50 1111.0PTPN11, BRAF, MAP2K1, RAF1
24valine449.0BRAF, RAF1, KRAS, HRAS
25herbimycin a44 619.8HRAS, RAF1, MAP2K1, PTPN11
26phosphotyrosine448.8PTPN11, MAP2K1, RAF1, HRAS
27imatinib44 50 1110.7PTPN11, BRAF, MAP2K1, RAF1, KRAS
28paclitaxel44 50 1110.6BRAF, MAP2K1, RAF1, KRAS, HRAS
29thymidine44 249.6PTPN11, MAP2K1, RAF1, HRAS
30cyclic amp44 249.6BRAF, MAP2K1, RAF1, HRAS
31adp44 28 2410.6PTPN11, BRAF, MAP2K2, MAP2K1, RAF1
32pd 98,059448.6HRAS, RAF1, MAP2K1, MAP2K2, BRAF
33agar448.5PTPN11, BRAF, MAP2K1, RAF1, HRAS
34estrogen448.5BRAF, MAP2K1, RAF1, KRAS, HRAS
35retinoic acid44 249.5HRAS, KRAS, RAF1, MAP2K1, BRAF
36oligonucleotide448.4PTPN11, BRAF, RAF1, KRAS, HRAS
37h2o2448.4HRAS, KRAS, RAF1, MAP2K1, PTPN11
38arginine448.3PTPN11, BRAF, MAP2K1, HRAS
39gtp44 289.2SOS1, BRAF, RAF1, KRAS, HRAS
40rapamycin448.1PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
41ly294002448.1PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
42cisplatin44 50 61 1111.1PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
43vegf448.1PTPN11, BRAF, MAP2K1, RAF1, KRAS, HRAS
44threonine448.1PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, HRAS
45lipid447.9HRAS, KRAS, BRAF, SOS1, PTPN11
46wortmannin447.7PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
47phosphoinositide447.7PTPN11, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
48phosphatidylinositol446.9HRAS, PTPN11, SOS1, BRAF, MAP2K2, MAP2K1
49serine446.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1
50tyrosine446.8PTPN11, SOS1, BRAF, MAP2K2, MAP2K1, RAF1

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome

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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:0058867.1SOS1, BRAF, MAP2K1, RAF1, KRAS, HRAS
4cytosolGO:0058296.8HRAS, 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:0901709.9MAP2K2, 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:0350229.7KRAS, HRAS
6regulation of synaptic transmission, GABAergicGO:0322289.7HRAS, KRAS
7striated muscle cell differentiationGO:0511469.6HRAS, KRAS
8cellular senescenceGO:0903989.6MAP2K1, HRAS
9positive regulation of gene expressionGO:0106289.6BRAF, MAP2K1, KRAS
10regulation of long-term neuronal synaptic plasticityGO:0481699.6KRAS, HRAS
11protein heterooligomerizationGO:0512919.5HRAS, MAP2K1, BRAF
12social behaviorGO:0351769.4KRAS, HRAS
13positive regulation of MAP kinase activityGO:0434069.4HRAS, KRAS
14activation of MAPK activityGO:0001879.4MAP2K1, MAP2K2, PTPN11
15negative regulation of neuron apoptotic processGO:0435249.4HRAS, KRAS, BRAF
16visual learningGO:0085429.1HRAS, KRAS
17cell proliferationGO:0082838.9HRAS, 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
3mitogen-activated protein kinase kinase bindingGO:0314349.7RAF1, BRAF
4MAP kinase kinase activityGO:0047089.6MAP2K1, MAP2K2
5MAP kinase kinase kinase activityGO:0047099.6RAF1, BRAF
6protein serine/threonine/tyrosine kinase activityGO:0047129.3MAP2K1, 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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  • Proteins
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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
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet