MCID: CRD163
MIFTS: 19

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

MalaCards based summary: Cardiofaciocutaneous Syndrome 2 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). Affiliated tissues include heart and skin.

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

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Cardiofaciocutaneous Syndrome 2, Aliases & Descriptions:

Name: Cardiofaciocutaneous Syndrome 2 45 22


Classifications:



External Ids:

OMIM45 615278

Related Diseases for Cardiofaciocutaneous Syndrome 2

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Graphical network of 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:

Search ClinicalTrials for Cardiofaciocutaneous Syndrome 2

Search NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Genetic Tests for Cardiofaciocutaneous Syndrome 2

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Genetic tests related to Cardiofaciocutaneous Syndrome 2:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 222

Anatomical Context for Cardiofaciocutaneous Syndrome 2

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

31
Heart, Skin

Animal Models for Cardiofaciocutaneous Syndrome 2 or affiliated genes

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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:

62
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:

6
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
6KRASNM_033360.3(KRAS): c.211T> C (p.Tyr71His)single nucleotide variantPathogenicrs387907205GRCh37Chr 12, 25380247: 25380247
7KRASNM_033360.3(KRAS): c.439A> G (p.Lys147Glu)single nucleotide variantPathogenicrs387907206GRCh37Chr 12, 25378559: 25378559

Expression for genes affiliated with Cardiofaciocutaneous Syndrome 2

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

Pathways for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Compounds for genes affiliated with Cardiofaciocutaneous Syndrome 2

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GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Products for genes affiliated with Cardiofaciocutaneous Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cardiofaciocutaneous Syndrome 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet