CFC2
MCID: CRD163
MIFTS: 22

Cardiofaciocutaneous Syndrome 2 (CFC2) malady

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

Aliases & Descriptions for Cardiofaciocutaneous Syndrome 2:

Name: Cardiofaciocutaneous Syndrome 2 54 66 29 69
Cfc2 66

Characteristics:

HPO:

32
cardiofaciocutaneous syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 615278

Summaries for Cardiofaciocutaneous Syndrome 2

UniProtKB/Swiss-Prot : 66 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 low-set ears, high palate and ptosis. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase). Affiliated tissues include heart and skin.

OMIM : 54 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial... (615278) more...

Related Diseases for Cardiofaciocutaneous Syndrome 2

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:

id Related Disease Score Top Affiliating Genes
1 cardiofaciocutaneous syndrome 10.8

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 2

Clinical features from OMIM:

615278

Human phenotypes related to Cardiofaciocutaneous Syndrome 2:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 high palate 32 HP:0000218
3 ptosis 32 HP:0000508
4 coarse facial features 32 HP:0000280
5 global developmental delay 32 HP:0001263
6 anteverted nares 32 HP:0000463
7 broad forehead 32 HP:0000337
8 myopia 32 HP:0000545
9 mitral valve prolapse 32 HP:0001634
10 fine hair 32 HP:0002213
11 sparse hair 32 HP:0008070
12 absent eyebrow 32 HP:0002223
13 posteriorly rotated ears 32 HP:0000358
14 curly hair 32 HP:0002212
15 peripheral axonal neuropathy 32 HP:0003477

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Genetic Tests for Cardiofaciocutaneous Syndrome 2

Genetic tests related to Cardiofaciocutaneous Syndrome 2:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 2 29

Anatomical Context for Cardiofaciocutaneous Syndrome 2

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

39
Heart, Skin

Publications for Cardiofaciocutaneous Syndrome 2

Variations for Cardiofaciocutaneous Syndrome 2

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

66
id Symbol AA change Variation ID SNP ID
1 KRAS p.Pro34Arg VAR_026110 rs104894366
2 KRAS p.Gly60Arg VAR_026112 rs104894359
3 KRAS p.Gln22Glu VAR_064850
4 KRAS p.Tyr71His VAR_069784 rs387907205
5 KRAS p.Lys147Glu VAR_069785 rs387907206

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
2 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
3 KRAS NM_004985.4(KRAS): c.101C> G (p.Pro34Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894366 GRCh37 Chromosome 12, 25398218: 25398218
4 KRAS NM_004985.4(KRAS): c.468C> G (p.Phe156Leu) single nucleotide variant Pathogenic rs104894362 GRCh37 Chromosome 12, 25362828: 25362828
5 KRAS NM_033360.3(KRAS): c.211T> C (p.Tyr71His) single nucleotide variant Pathogenic rs387907205 GRCh37 Chromosome 12, 25380247: 25380247
6 KRAS NM_033360.3(KRAS): c.439A> G (p.Lys147Glu) single nucleotide variant Pathogenic rs387907206 GRCh37 Chromosome 12, 25378559: 25378559

Expression for Cardiofaciocutaneous Syndrome 2

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

Pathways for Cardiofaciocutaneous Syndrome 2

GO Terms for Cardiofaciocutaneous Syndrome 2

Sources for Cardiofaciocutaneous Syndrome 2

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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