MCID: CRD163
MIFTS: 28

Cardiofaciocutaneous Syndrome 2 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

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Aliases & Descriptions for Cardiofaciocutaneous Syndrome 2:

Name: Cardiofaciocutaneous Syndrome 2 50 68 25 66
 
Cfc2 68

Characteristics:

HPO:

62
cardiofaciocutaneous syndrome 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 615278

Summaries for Cardiofaciocutaneous Syndrome 2

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UniProtKB/Swiss-Prot:68 Cardiofaciocutaneous syndrome 2: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.

MalaCards based summary: Cardiofaciocutaneous Syndrome 2, also known as cfc2, is related to cardiofaciocutaneous syndrome and cardiofaciocutaneous syndrome 2, and has symptoms including high palate, coarse facial features and broad forehead. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase). Affiliated tissues include skin and heart.

OMIM:50 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial... (615278) more...

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

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

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Interventional clinical trials:

Search ClinicalTrials, 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 225

Anatomical Context for Cardiofaciocutaneous Syndrome 2

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

34
Skin, Heart

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:

68
id Symbol AA change Variation ID SNP ID
1KRASp.Pro34ArgVAR_026110rs104894366
2KRASp.Gly60ArgVAR_026112rs104894359
3KRASp.Gln22GluVAR_064850
4KRASp.Tyr71HisVAR_069784rs387907205
5KRASp.Lys147GluVAR_069785rs387907206

Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_004985.4(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_004985.4(KRAS): c.101C> G (p.Pro34Arg)single nucleotide variantLikely pathogenic, Pathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
4KRASNM_033360.3(KRAS): c.15A> T (p.Lys5Asn)single nucleotide variantPathogenicrs104894361GRCh37Chr 12, 25398304: 25398304
5KRASNM_033360.3(KRAS): c.*22C> Gsingle 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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GO Terms for genes affiliated with Cardiofaciocutaneous Syndrome 2

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Molecular functions related to Cardiofaciocutaneous Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:00039249.1GNL3, KRAS
2GTP bindingGO:00055259.1GNL3, KRAS

Sources for Cardiofaciocutaneous Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet