MCID: CRD163
MIFTS: 23

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 52 70 27 68
 
Cfc2 70

Characteristics:

HPO:

64
cardiofaciocutaneous syndrome 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 615278

Summaries for Cardiofaciocutaneous Syndrome 2

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UniProtKB/Swiss-Prot:70 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 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:52 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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Diseases in the Cardiofaciocutaneous Syndrome family:

cardiofaciocutaneous syndrome 2 Cardiofaciocutaneous Syndrome 3
Cardiofaciocutaneous Syndrome 4 Braf-Related Cardiofaciocutaneous Syndrome
Kras-Related Cardiofaciocutaneous Syndrome Map2k1-Related Cardiofaciocutaneous Syndrome
Map2k2-Related Cardiofaciocutaneous Syndrome

Diseases related to Cardiofaciocutaneous Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiofaciocutaneous syndrome10.8

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 2

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Clinical features from OMIM:

615278

Human phenotypes related to Cardiofaciocutaneous Syndrome 2:

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 coarse facial features64 HP:0000280
3 broad forehead64 HP:0000337
4 posteriorly rotated ears64 HP:0000358
5 low-set ears64 HP:0000369
6 anteverted nares64 HP:0000463
7 ptosis64 HP:0000508
8 myopia64 HP:0000545
9 global developmental delay64 HP:0001263
10 mitral valve prolapse64 HP:0001634
11 curly hair64 HP:0002212
12 fine hair64 HP:0002213
13 absent eyebrow64 HP:0002223
14 peripheral axonal neuropathy64 HP:0003477
15 sparse hair64 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 227

Anatomical Context for Cardiofaciocutaneous Syndrome 2

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MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

36
Skin, Heart

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:

70
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)SNVPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280
2KRASNM_004985.4(KRAS): c.458A> T (p.Asp153Val)SNVPathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
3KRASNM_004985.4(KRAS): c.101C> G (p.Pro34Arg)SNVLikely pathogenic, Pathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
4KRASNM_033360.3(KRAS): c.15A> T (p.Lys5Asn)SNVPathogenicrs104894361GRCh37Chr 12, 25398304: 25398304
5KRASNM_004985.4(KRAS): c.468C> G (p.Phe156Leu)SNVPathogenicrs104894362GRCh37Chr 12, 25362828: 25362828
6KRASNM_033360.3(KRAS): c.211T> C (p.Tyr71His)SNVPathogenicrs387907205GRCh37Chr 12, 25380247: 25380247
7KRASNM_033360.3(KRAS): c.439A> G (p.Lys147Glu)SNVPathogenicrs387907206GRCh37Chr 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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Sources for Cardiofaciocutaneous Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet