MCID: CRD163
MIFTS: 47

Cardiofaciocutaneous Syndrome 2 malady

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

Summaries for Cardiofaciocutaneous Syndrome 2

About this section


OMIM:47 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

About this section
Sources:
47OMIM, 24GTR, 62UMLS
See all sources

Cardiofaciocutaneous Syndrome 2, Aliases & Descriptions:

Name: Cardiofaciocutaneous Syndrome 2 47 24
 
Cardio-Facio-Cutaneous Syndrome 62


Classifications:



External Ids:

OMIM47 615278

Related Diseases for Cardiofaciocutaneous Syndrome 2

About this section

Graphical network of diseases related to Cardiofaciocutaneous Syndrome 2:



Diseases related to cardiofaciocutaneous syndrome 2

Symptoms for Cardiofaciocutaneous Syndrome 2

About this section


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

About this section

Drug clinical trials:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome 2

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Genetic Tests for Cardiofaciocutaneous Syndrome 2

About this section

Genetic tests related to Cardiofaciocutaneous Syndrome 2:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 224

Anatomical Context for Cardiofaciocutaneous Syndrome 2

About this section

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

33
Heart, Skin

Animal Models for Cardiofaciocutaneous Syndrome 2 or affiliated genes

About this section

MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 2:

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

Publications for Cardiofaciocutaneous Syndrome 2

About this section

Variations for Cardiofaciocutaneous Syndrome 2

About this section

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

64
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 Variation 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

About this section

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 2.

Pathways for genes affiliated with Cardiofaciocutaneous Syndrome 2

About this section

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 pathway38
8.5BRAF, MAP2K1, MAP2K2
10
Show member pathways
8.5BRAF, MAP2K1, MAP2K2
118.5MAP2K2, BRAF, MAP2K1
12
Show member pathways
mTOR signaling pathway38
8.5MAP2K1, BRAF, MAP2K2
138.5MAP2K1, BRAF, MAP2K2
14
Show member pathways
RANKL/RANK Signaling Pathway38
Apoptosis and survival APRIL and BAFF signaling60
8.5BRAF, MAP2K2, MAP2K1
15
Show member pathways
G protein signaling M RAS regulation pathway60
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 ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
8.5MAP2K1, MAP2K2, BRAF
198.5MAP2K1, MAP2K2, BRAF
20
Show member pathways
Development A2B receptor action via G protein alpha s60
8.5MAP2K1, MAP2K2, BRAF
218.0MAP2K2, MAP2K1, BRAF, KRAS
22
Show member pathways
Immune response CD16 signaling in NK cells60
8.0MAP2K2, MAP2K1, KRAS, BRAF
23
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
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 events38
Polo-like kinase signaling events in the cell cycle38
8.0MAP2K1, BRAF, MAP2K2, KRAS
27
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
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 pathway60
Fc-epsilon receptor I signaling in mast cells38
8.0MAP2K2, BRAF, KRAS, MAP2K1
358.0KRAS, MAP2K1, MAP2K2, BRAF
36
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.0KRAS, MAP2K1, MAP2K2, BRAF
37
Show member pathways
8.0MAP2K1, KRAS, BRAF, MAP2K2
38
Show member pathways
MAPK signaling pathway38
8.0KRAS, MAP2K2, MAP2K1, BRAF
398.0KRAS, MAP2K1, MAP2K2, BRAF
40
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
8.0KRAS, BRAF, MAP2K1, MAP2K2
41
Show member pathways
8.0MAP2K1, KRAS, BRAF, MAP2K2
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
8.0MAP2K1, BRAF, MAP2K2, KRAS
43
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
8.0MAP2K1, KRAS, BRAF, MAP2K2
44
Show member pathways
Signaling Pathways in Glioblastoma38
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 pathway60
8.0MAP2K1, MAP2K2, KRAS, BRAF

Compounds for genes affiliated with Cardiofaciocutaneous Syndrome 2

About this section

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

(show all 29)
idCompoundScoreTop Affiliating Genes
1pd-184352459.7KRAS, MAP2K1
2panitumumab45 51 1311.5BRAF, KRAS
3regorafenib51 1310.4BRAF, KRAS
4o6-methylguanine459.4BRAF, KRAS
5cetuximab45 51 1311.4KRAS, BRAF
6crcs459.4KRAS, BRAF
7irinotecan45 51 1311.3KRAS, BRAF
817-(allylamino)-17-demethoxygeldanamycin459.3MAP2K1, BRAF
9valine459.1KRAS, BRAF
10p002459.0BRAF, KRAS
11fmlp459.0MAP2K1, MAP2K2
12trametinib51 139.9MAP2K1, BRAF, MAP2K2
13imatinib45 51 1310.9BRAF, KRAS, MAP2K1
14paclitaxel45 51 1310.9MAP2K1, KRAS, BRAF
15rapamycin458.9BRAF, KRAS, MAP2K1
16pd 98,059458.8MAP2K1, MAP2K2, BRAF
17ly294002458.8BRAF, KRAS, MAP2K1
18cisplatin45 51 61 1311.8BRAF, KRAS, MAP2K1
19vegf458.7MAP2K1, KRAS, BRAF
20threonine458.7MAP2K1, BRAF, MAP2K2
21adp45 30 2610.7MAP2K1, MAP2K2, BRAF
22Adenosine triphosphate26 139.6MAP2K1, MAP2K2, BRAF
23estrogen458.6KRAS, MAP2K1, BRAF
24retinoic acid45 269.5MAP2K1, BRAF, KRAS
25wortmannin458.4MAP2K2, MAP2K1, KRAS, BRAF
26phosphoinositide458.4KRAS, BRAF, MAP2K2, MAP2K1
27phosphatidylinositol458.4MAP2K2, BRAF, MAP2K1, KRAS
28serine458.3MAP2K2, MAP2K1, KRAS, BRAF
29tyrosine458.3KRAS, MAP2K1, MAP2K2, BRAF

GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome 2

About this section

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

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00057709.4MAP2K1, MAP2K2
2cell cortexGO:00059389.3MAP2K1, MAP2K2
3early endosomeGO:00057699.3MAP2K2, MAP2K1
4focal adhesionGO:00059259.2MAP2K1, MAP2K2
5mitochondrionGO:00057398.5MAP2K2, MAP2K1, KRAS

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1regulation of Golgi inheritanceGO:00901709.7MAP2K2, MAP2K1
2regulation of early endosome to late endosome transportGO:020006419.7MAP2K1, MAP2K2
3regulation of stress-activated MAPK cascadeGO:00328729.7MAP2K1, MAP2K2
4positive regulation of protein serine/threonine kinase activityGO:00719029.7MAP2K2, MAP2K1
5stress-activated MAPK cascadeGO:00514039.7MAP2K2, MAP2K1
6toll-like receptor 5 signaling pathwayGO:00341469.6MAP2K1, MAP2K2
7toll-like receptor 10 signaling pathwayGO:00341669.6MAP2K1, MAP2K2
8toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.6MAP2K1, MAP2K2
9toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.6MAP2K1, MAP2K2
10toll-like receptor 9 signaling pathwayGO:00341629.6MAP2K1, MAP2K2
11response to glucocorticoidGO:00513849.6MAP2K1, KRAS
12toll-like receptor 2 signaling pathwayGO:00341349.5MAP2K1, MAP2K2
13TRIF-dependent toll-like receptor signaling pathwayGO:00356669.5MAP2K1, MAP2K2
14MyD88-independent toll-like receptor signaling pathwayGO:00027569.5MAP2K1, MAP2K2
15MyD88-dependent toll-like receptor signaling pathwayGO:00027559.4MAP2K2, MAP2K1
16toll-like receptor 3 signaling pathwayGO:00341389.4MAP2K1, MAP2K2
17protein heterooligomerizationGO:00512919.3MAP2K1, BRAF
18activation of MAPK activityGO:00001879.3MAP2K2, MAP2K1
19toll-like receptor 4 signaling pathwayGO:00341429.2MAP2K1, MAP2K2
20MAPK cascadeGO:00001659.2KRAS, MAP2K1, MAP2K2
21Ras protein signal transductionGO:00072659.2MAP2K1, KRAS, MAP2K2
22insulin receptor signaling pathwayGO:00082869.2MAP2K2, MAP2K1, KRAS
23Fc-epsilon receptor signaling pathwayGO:00380959.2KRAS, MAP2K2, MAP2K1
24epidermal growth factor receptor signaling pathwayGO:00071739.2MAP2K1, MAP2K2, KRAS
25axon guidanceGO:00074119.1MAP2K2, MAP2K1, KRAS
26negative regulation of neuron apoptotic processGO:00435249.1BRAF, KRAS
27innate immune responseGO:00450879.1MAP2K2, KRAS, MAP2K1
28toll-like receptor signaling pathwayGO:00022249.0MAP2K2, MAP2K1
29positive regulation of gene expressionGO:00106288.9BRAF, MAP2K1, KRAS
30activation of MAPKK activityGO:00001868.4BRAF, KRAS, MAP2K1, MAP2K2
31fibroblast growth factor receptor signaling pathwayGO:00085438.4KRAS, MAP2K1, MAP2K2, BRAF
32neurotrophin TRK receptor signaling pathwayGO:00480118.4MAP2K2, BRAF, MAP2K1, KRAS
33small GTPase mediated signal transductionGO:00072648.4BRAF, MAP2K2, MAP2K1, KRAS

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:00435399.4MAP2K2, MAP2K1
2MAP kinase kinase activityGO:00047089.4MAP2K2, MAP2K1
3protein serine/threonine/tyrosine kinase activityGO:00047129.3MAP2K1, MAP2K2
4protein kinase activityGO:00046729.0BRAF, MAP2K1
5protein tyrosine kinase activityGO:00047139.0MAP2K1, MAP2K2
6protein serine/threonine kinase activityGO:00046748.4BRAF, MAP2K2, MAP2K1

Products for genes affiliated with Cardiofaciocutaneous Syndrome 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cardiofaciocutaneous Syndrome 2

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet