MCID: CRD163
MIFTS: 42

Cardiofaciocutaneous Syndrome 2 malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases categories

Summaries for Cardiofaciocutaneous Syndrome 2

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OMIM:46 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial...615278 more...

MalaCards based summary: Cardiofaciocutaneous Syndrome 2, also known as cardio-facio-cutaneous syndrome, is related to cystadenoma and lynch syndrome, and has symptoms including autosomal dominant inheritance, high palate and coarse facial features. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways are TGF-beta Signaling Pathway and Signaling by Interleukins. The compounds pd-184352 and panitumumab have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related mouse phenotypes are tumorigenesis and craniofacial.

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

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Cardiofaciocutaneous Syndrome 2, Aliases & Descriptions:

Name: Cardiofaciocutaneous Syndrome 2 46
 
Cardio-Facio-Cutaneous Syndrome 61


Classifications:



Related Diseases for Cardiofaciocutaneous Syndrome 2

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Graphical network of the top 20 diseases related to Cardiofaciocutaneous Syndrome 2:



Diseases related to cardiofaciocutaneous syndrome 2

Symptoms for Cardiofaciocutaneous Syndrome 2

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Clinical features from OMIM:

615278

HPO human phenotypes related to Cardiofaciocutaneous Syndrome 2:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 high palate HP:0000218
3 coarse facial features HP:0000280
4 broad forehead HP:0000337
5 posteriorly rotated ears HP:0000358
6 low-set ears HP:0000369
7 anteverted nares HP:0000463
8 ptosis HP:0000508
9 myopia HP:0000545
10 global developmental delay HP:0001263
11 mitral valve prolapse HP:0001634
12 curly hair HP:0002212
13 fine hair HP:0002213
14 absent eyebrow HP:0002223
15 peripheral axonal neuropathy HP:0003477
16 sparse hair HP:0008070

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

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Drug clinical trials:

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Genetic Tests for Cardiofaciocutaneous Syndrome 2

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Anatomical Context for Cardiofaciocutaneous Syndrome 2

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

32
Heart, Skin

Animal Models for Cardiofaciocutaneous Syndrome 2 or affiliated genes

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MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 2:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.2KRAS, MAP2K1, MAP2K2, BRAF
2MP:00053828.2MAP2K1, MAP2K2, BRAF
3MP:00053818.2BRAF, MAP2K2, MAP2K1, KRAS
4MP:00053918.2BRAF, MAP2K2, MAP2K1, KRAS
5MP:00053798.2KRAS, MAP2K1, MAP2K2, BRAF
6MP:00107718.1BRAF, MAP2K2, MAP2K1, KRAS
7MP:00028738.1BRAF, MAP2K2, MAP2K1, KRAS
8MP:00053848.1KRAS, MAP2K1, MAP2K2, BRAF
9MP:00053788.0BRAF, MAP2K2, MAP2K1, KRAS
10MP:00107688.0KRAS, MAP2K1, MAP2K2, BRAF
11MP:00053767.9BRAF, MAP2K2, MAP2K1, KRAS

Publications for Cardiofaciocutaneous Syndrome 2

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Variations for Cardiofaciocutaneous Syndrome 2

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UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 2:

63
id Symbol AA change Variation ID SNP ID
1KRASp.Pro34ArgVAR_026110
2KRASp.Gly60ArgVAR_026112
3KRASp.Gln22GluVAR_064850
4KRASp.Tyr71HisVAR_069784
5KRASp.Lys147GluVAR_069785

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome 2:

7 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.178G> C (p.Gly60Arg)single nucleotide variantPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280
2KRASNM_004985.4(KRAS): c.458A> T (p.Asp153Val)single nucleotide variantPathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
3KRASNM_033360.3(KRAS): c.101C> G (p.Pro34Arg)single nucleotide variantPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
4KRASNM_033360.3(KRAS): c.15A> T (p.Lys5Asn)single nucleotide variantPathogenicrs104894361GRCh37Chr 12, 25398304: 25398304
5KRASNM_004985.4(KRAS): c.468C> G (p.Phe156Leu)single nucleotide variantPathogenicrs104894362GRCh37Chr 12, 25362828: 25362828
6MAP2K1NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys)single nucleotide variantPathogenicrs121908595GRCh37Chr 15, 66729181: 66729181
7MAP2K1NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val)single nucleotide variantPathogenicrs121908596GRCh37Chr 15, 66729175: 66729175
8BRAFNM_004333.4(BRAF): c.736G> C (p.Ala246Pro)single nucleotide variantPathogenicrs180177034GRCh37Chr 7, 140501336: 140501336
9BRAFNM_004333.4(BRAF): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs121913355GRCh37Chr 7, 140481402: 140481402
10BRAFNM_004333.4(BRAF): c.1455G> C (p.Leu485Phe)single nucleotide variantPathogenicrs180177036GRCh37Chr 7, 140477853: 140477853
11BRAFNM_004333.4(BRAF): c.1495A> G (p.Lys499Glu)single nucleotide variantPathogenicrs180177037GRCh37Chr 7, 140477813: 140477813
12BRAFNM_004333.4(BRAF): c.1501G> A (p.Glu501Lys)single nucleotide variantPathogenicrs180177038GRCh37Chr 7, 140477807: 140477807
13BRAFNM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)single nucleotide variantPathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
14BRAFNM_004333.4(BRAF): c.1741A> G (p.Asn581Asp)single nucleotide variantPathogenicrs180177040GRCh37Chr 7, 140453987: 140453987
15BRAFNM_004333.4(BRAF): c.1600G> C (p.Gly534Arg)single nucleotide variantPathogenicrs180177041GRCh37Chr 7, 140476806: 140476806
16BRAFNM_004333.4(BRAF): c.1914T> A (p.Asp638Glu)single nucleotide variantPathogenicrs180177042GRCh37Chr 7, 140449165: 140449165
17BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
18KRASNM_033360.3(KRAS): c.211T> C (p.Tyr71His)single nucleotide variantPathogenicrs387907205GRCh37Chr 12, 25380247: 25380247
19KRASNM_033360.3(KRAS): c.439A> G (p.Lys147Glu)single nucleotide variantPathogenicrs387907206GRCh37Chr 12, 25378559: 25378559
20BRAFNM_004333.4(BRAF): c.730A> C (p.Thr244Pro)single nucleotide variantPathogenicrs397507465GRCh37Chr 7, 140501342: 140501342
21BRAFNM_004333.4(BRAF): c.735A> C (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
22BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenic, Pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
23BRAFNM_004333.4(BRAF): c.769C> A (p.Gln257Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397507469GRCh37Chr 7, 140501303: 140501303
24BRAFNM_004333.4(BRAF): c.1403T> C (p.Phe468Ser)single nucleotide variantPathogenicrs397507473GRCh37Chr 7, 140481405: 140481405
25BRAFNM_004333.4(BRAF): c.1502A> T (p.Glu501Val)single nucleotide variantLikely pathogenic, Pathogenicrs180177039GRCh37Chr 7, 140477806: 140477806
26BRAFNM_004333.4(BRAF): c.1695T> G (p.Asp565Glu)single nucleotide variantLikely pathogenic, Pathogenicrs397507480GRCh37Chr 7, 140454033: 140454033
27MAP2K1NM_002755.3(MAP2K1): c.388T> C (p.Tyr130His)single nucleotide variantPathogenicrs397516793GRCh37Chr 15, 66729180: 66729180
28MAP2K1NM_002755.3(MAP2K1): c.124C> T (p.Leu42Phe)single nucleotide variantPathogenicrs397516789GRCh37Chr 15, 66727408: 66727408
29BRAFNM_004333.4(BRAF): c.1743T> A (p.Asn581Lys)single nucleotide variantPathogenicrs397516895GRCh37Chr 7, 140453192: 140453192
30MAP2K2NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His)single nucleotide variantLikely pathogenic, Pathogenicrs121434499GRCh37Chr 19, 4110557: 4110557

Expression for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Expression patterns in normal tissues for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Pathways for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Pathways related to Cardiofaciocutaneous Syndrome 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.8MAP2K2, MAP2K1, KRAS
2
Show member pathways
8.8MAP2K2, MAP2K1, KRAS
3
Show member pathways
8.8MAP2K2, KRAS, MAP2K1
4
Show member pathways
8.8MAP2K2, KRAS, MAP2K1
58.8MAP2K2, KRAS, MAP2K1
6
Show member pathways
8.8KRAS, MAP2K1, MAP2K2
7
Show member pathways
8.8MAP2K2, KRAS, MAP2K1
8
Show member pathways
8.8MAP2K1, MAP2K2, KRAS
9
Show member pathways
Ras signaling in the CD4+ TCR pathway37
8.5BRAF, MAP2K1, MAP2K2
10
Show member pathways
8.5BRAF, MAP2K1, MAP2K2
118.5MAP2K2, BRAF, MAP2K1
12
Show member pathways
mTOR signaling pathway37
8.5MAP2K1, BRAF, MAP2K2
138.5MAP2K1, BRAF, MAP2K2
14
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling59
8.5BRAF, MAP2K2, MAP2K1
15
Show member pathways
G protein signaling M RAS regulation pathway59
8.5BRAF, MAP2K2, MAP2K1
16
Show member pathways
8.5BRAF, MAP2K2, MAP2K1
17
Show member pathways
8.5MAP2K2, BRAF, MAP2K1
18
Show member pathways
Development Beta adrenergic receptors regulation of ERK59
G protein signaling G Protein alpha s signaling cascades59
G protein signaling G Protein beta gamma signaling cascades59
8.5MAP2K1, MAP2K2, BRAF
198.5MAP2K1, MAP2K2, BRAF
20
Show member pathways
Development A2B receptor action via G protein alpha s59
8.5MAP2K1, MAP2K2, BRAF
218.0MAP2K2, MAP2K1, BRAF, KRAS
22
Show member pathways
Immune response CD16 signaling in NK cells59
8.0MAP2K2, MAP2K1, KRAS, BRAF
23
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway37
8.0BRAF, MAP2K1, MAP2K2, KRAS
24
Show member pathways
8.0KRAS, BRAF, MAP2K2, MAP2K1
25
Show member pathways
8.0BRAF, KRAS, MAP2K2, MAP2K1
26
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
8.0MAP2K1, BRAF, MAP2K2, KRAS
27
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.0MAP2K2, BRAF, MAP2K1, KRAS
28
Show member pathways
8.0MAP2K1, BRAF, MAP2K2, KRAS
29
Show member pathways
8.0BRAF, MAP2K1, MAP2K2, KRAS
308.0BRAF, MAP2K2, MAP2K1, KRAS
318.0KRAS, MAP2K2, BRAF, MAP2K1
32
Show member pathways
8.0BRAF, MAP2K2, MAP2K1, KRAS
33
Show member pathways
8.0KRAS, MAP2K1, BRAF, MAP2K2
34
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells37
8.0MAP2K2, BRAF, KRAS, MAP2K1
358.0KRAS, MAP2K1, MAP2K2, BRAF
36
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
8.0KRAS, MAP2K1, MAP2K2, BRAF
37
Show member pathways
8.0MAP2K1, KRAS, BRAF, MAP2K2
38
Show member pathways
MAPK signaling pathway37
8.0KRAS, MAP2K2, MAP2K1, BRAF
398.0KRAS, MAP2K1, MAP2K2, BRAF
40
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
8.0KRAS, BRAF, MAP2K1, MAP2K2
41
Show member pathways
8.0MAP2K1, KRAS, BRAF, MAP2K2
42
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
8.0MAP2K1, BRAF, MAP2K2, KRAS
43
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.0MAP2K1, KRAS, BRAF, MAP2K2
44
Show member pathways
Signaling Pathways in Glioblastoma37
8.0KRAS, BRAF, MAP2K2, MAP2K1
45
Show member pathways
8.0MAP2K2, BRAF, MAP2K1, KRAS
46
Show member pathways
8.0BRAF, KRAS, MAP2K2, MAP2K1
478.0BRAF, MAP2K1, MAP2K2, KRAS
48
Show member pathways
8.0MAP2K1, MAP2K2, BRAF, KRAS
49
Show member pathways
8.0MAP2K1, MAP2K2, KRAS, BRAF
50
Show member pathways
Signal transduction PTEN pathway59
8.0MAP2K1, MAP2K2, KRAS, BRAF

Compounds for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Compounds related to Cardiofaciocutaneous Syndrome 2 according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pd-184352449.7MAP2K1, KRAS
2panitumumab44 50 1211.5BRAF, KRAS
3regorafenib50 1210.4KRAS, BRAF
4o6-methylguanine449.4KRAS, BRAF
5cetuximab44 50 1211.4KRAS, BRAF
6crcs449.4KRAS, BRAF
7irinotecan44 50 1211.3BRAF, KRAS
817-(allylamino)-17-demethoxygeldanamycin449.3MAP2K1, BRAF
9valine449.1KRAS, BRAF
10p002449.0BRAF, KRAS
11fmlp449.0MAP2K1, MAP2K2
12trametinib50 129.9MAP2K1, MAP2K2, BRAF
13imatinib44 50 1210.9KRAS, MAP2K1, BRAF
14paclitaxel44 50 1210.9KRAS, MAP2K1, BRAF
15rapamycin448.9BRAF, MAP2K1, KRAS
16pd 98,059448.8MAP2K1, MAP2K2, BRAF
17ly294002448.8BRAF, MAP2K1, KRAS
18cisplatin44 50 60 1211.8BRAF, MAP2K1, KRAS
19vegf448.7BRAF, MAP2K1, KRAS
20threonine448.7MAP2K1, MAP2K2, BRAF
21adp44 29 2510.7MAP2K1, MAP2K2, BRAF
22Adenosine triphosphate25 129.6MAP2K1, MAP2K2, BRAF
23estrogen448.6BRAF, MAP2K1, KRAS
24retinoic acid44 259.5KRAS, MAP2K1, BRAF
25wortmannin448.4KRAS, MAP2K1, MAP2K2, BRAF
26phosphoinositide448.4BRAF, MAP2K2, MAP2K1, KRAS
27phosphatidylinositol448.4KRAS, MAP2K1, MAP2K2, BRAF
28serine448.3KRAS, MAP2K1, MAP2K2, BRAF
29tyrosine448.3BRAF, MAP2K2, MAP2K1, KRAS

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Cellular components related to Cardiofaciocutaneous Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:0057709.4MAP2K1, MAP2K2
2cell cortexGO:0059389.3MAP2K1, MAP2K2
3early endosomeGO:0057699.3MAP2K1, MAP2K2
4focal adhesionGO:0059259.2MAP2K2, MAP2K1
5mitochondrionGO:0057398.5KRAS, MAP2K1, MAP2K2

Biological processes related to Cardiofaciocutaneous Syndrome 2 according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1regulation of Golgi inheritanceGO:0901709.7MAP2K1, MAP2K2
2regulation of early endosome to late endosome transportGO:20006419.7MAP2K1, MAP2K2
3regulation of stress-activated MAPK cascadeGO:0328729.7MAP2K1, MAP2K2
4positive regulation of protein serine/threonine kinase activityGO:0719029.7MAP2K2, MAP2K1
5stress-activated MAPK cascadeGO:0514039.7MAP2K1, MAP2K2
6toll-like receptor 5 signaling pathwayGO:0341469.6MAP2K1, MAP2K2
7toll-like receptor 10 signaling pathwayGO:0341669.6MAP2K1, MAP2K2
8toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.6MAP2K2, MAP2K1
9toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.6MAP2K2, MAP2K1
10toll-like receptor 9 signaling pathwayGO:0341629.6MAP2K2, MAP2K1
11toll-like receptor 2 signaling pathwayGO:0341349.6MAP2K1, MAP2K2
12response to glucocorticoidGO:0513849.5KRAS, MAP2K1
13TRIF-dependent toll-like receptor signaling pathwayGO:0356669.5MAP2K1, MAP2K2
14MyD88-independent toll-like receptor signaling pathwayGO:0027569.5MAP2K2, MAP2K1
15MyD88-dependent toll-like receptor signaling pathwayGO:0027559.4MAP2K2, MAP2K1
16toll-like receptor 3 signaling pathwayGO:0341389.4MAP2K1, MAP2K2
17protein heterooligomerizationGO:0512919.3MAP2K1, BRAF
18activation of MAPK activityGO:0001879.3MAP2K1, MAP2K2
19toll-like receptor 4 signaling pathwayGO:0341429.2MAP2K2, MAP2K1
20MAPK cascadeGO:0001659.2KRAS, MAP2K1, MAP2K2
21Ras protein signal transductionGO:0072659.2MAP2K2, MAP2K1, KRAS
22insulin receptor signaling pathwayGO:0082869.2MAP2K2, MAP2K1, KRAS
23Fc-epsilon receptor signaling pathwayGO:0380959.2MAP2K2, MAP2K1, KRAS
24epidermal growth factor receptor signaling pathwayGO:0071739.2KRAS, MAP2K1, MAP2K2
25axon guidanceGO:0074119.1KRAS, MAP2K1, MAP2K2
26negative regulation of neuron apoptotic processGO:0435249.1KRAS, BRAF
27innate immune responseGO:0450879.1MAP2K2, MAP2K1, KRAS
28toll-like receptor signaling pathwayGO:0022249.0MAP2K1, MAP2K2
29positive regulation of gene expressionGO:0106288.9KRAS, MAP2K1, BRAF
30activation of MAPKK activityGO:0001868.4KRAS, MAP2K1, MAP2K2, BRAF
31fibroblast growth factor receptor signaling pathwayGO:0085438.4BRAF, MAP2K2, MAP2K1, KRAS
32neurotrophin TRK receptor signaling pathwayGO:0480118.4BRAF, MAP2K2, MAP2K1, KRAS
33small GTPase mediated signal transductionGO:0072648.4BRAF, MAP2K2, MAP2K1, KRAS

Molecular functions related to Cardiofaciocutaneous Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:0435399.4MAP2K1, MAP2K2
2MAP kinase kinase activityGO:0047089.4MAP2K1, MAP2K2
3protein serine/threonine/tyrosine kinase activityGO:0047129.3MAP2K1, MAP2K2
4protein kinase activityGO:0046729.0MAP2K1, BRAF
5protein tyrosine kinase activityGO:0047139.0MAP2K1, MAP2K2
6protein serine/threonine kinase activityGO:0046748.4BRAF, MAP2K2, MAP2K1

Products for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Sources for Cardiofaciocutaneous Syndrome 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet