MCID: CRD163
MIFTS: 20

Cardiofaciocutaneous Syndrome 2

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 2:

Name: Cardiofaciocutaneous Syndrome 2 53 71 28 69
Cfc2 53 71

Characteristics:

HPO:

31
cardiofaciocutaneous syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiofaciocutaneous Syndrome 2

UniProtKB/Swiss-Prot : 71 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, is also known as cfc2, 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 : 53 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation. (615278)

Related Diseases for Cardiofaciocutaneous Syndrome 2

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 2

Clinical features from OMIM:

615278

Human phenotypes related to Cardiofaciocutaneous Syndrome 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 coarse facial features 31 HP:0000280
3 broad forehead 31 HP:0000337
4 posteriorly rotated ears 31 HP:0000358
5 low-set ears 31 HP:0000369
6 anteverted nares 31 HP:0000463
7 ptosis 31 HP:0000508
8 myopia 31 HP:0000545
9 global developmental delay 31 HP:0001263
10 mitral valve prolapse 31 HP:0001634
11 curly hair 31 HP:0002212
12 fine hair 31 HP:0002213
13 absent eyebrow 31 HP:0002223
14 peripheral axonal neuropathy 31 HP:0003477
15 sparse hair 31 HP:0008070

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:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 2 28 KRAS

Anatomical Context for Cardiofaciocutaneous Syndrome 2

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

38
Skin, Heart

Publications for Cardiofaciocutaneous Syndrome 2

Variations for Cardiofaciocutaneous Syndrome 2

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

71
# 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
# 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.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh37 Chromosome 12, 25398304: 25398304
5 KRAS NM_004985.4(KRAS): c.468C> G (p.Phe156Leu) single nucleotide variant Pathogenic rs104894362 GRCh37 Chromosome 12, 25362828: 25362828
6 KRAS NM_033360.3(KRAS): c.211T> C (p.Tyr71His) single nucleotide variant Pathogenic rs387907205 GRCh37 Chromosome 12, 25380247: 25380247
7 KRAS NM_004985.4(KRAS): c.439A> G (p.Lys147Glu) single nucleotide variant Pathogenic rs387907206 GRCh37 Chromosome 12, 25378559: 25378559
8 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254

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
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32 ICD10
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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