CFC2
MCID: CRD163
MIFTS: 21

Cardiofaciocutaneous Syndrome 2 (CFC2)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 2

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 2:

Name: Cardiofaciocutaneous Syndrome 2 58 76 30 6 74
Cfc2 58 76
Cardiofaciocutaneous Syndrome, Type 2 41

Characteristics:

HPO:

33
cardiofaciocutaneous syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiofaciocutaneous Syndrome 2

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase). Affiliated tissues include skin and heart, and related phenotypes are low-set ears and high palate

OMIM : 58 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

Human phenotypes related to Cardiofaciocutaneous Syndrome 2:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 high palate 33 HP:0000218
3 ptosis 33 HP:0000508
4 coarse facial features 33 HP:0000280
5 global developmental delay 33 HP:0001263
6 anteverted nares 33 HP:0000463
7 myopia 33 HP:0000545
8 mitral valve prolapse 33 HP:0001634
9 broad forehead 33 HP:0000337
10 fine hair 33 HP:0002213
11 curly hair 33 HP:0002212
12 sparse hair 33 HP:0008070
13 peripheral axonal neuropathy 33 HP:0003477
14 posteriorly rotated ears 33 HP:0000358
15 absent eyebrow 33 HP:0002223

Clinical features from OMIM:

615278

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial to Evaluate the Efficacy and Safety of PQ912 in Patients With Early AD Not yet recruiting NCT03919162 Phase 2 PQ912

Search 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 30 KRAS

Anatomical Context for Cardiofaciocutaneous Syndrome 2

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 2:

42
Skin, Heart

Publications for Cardiofaciocutaneous Syndrome 2

Articles related to Cardiofaciocutaneous Syndrome 2:

# Title Authors Year
1
Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. ( 23059812 )
2013
2
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. ( 21797849 )
2012
3
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. ( 18386799 )
2008
4
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. ( 17056636 )
2007
5
Germline KRAS mutations cause Noonan syndrome. ( 16474405 )
2006
6
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. ( 16474404 )
2006

Variations for Cardiofaciocutaneous Syndrome 2

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

76
# 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 (show all 18)
# 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.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs104894359 GRCh38 Chromosome 12, 25227346: 25227346
3 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
4 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
5 KRAS NM_004985.4(KRAS): c.101C> G (p.Pro34Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894366 GRCh37 Chromosome 12, 25398218: 25398218
6 KRAS NM_004985.4(KRAS): c.101C> G (p.Pro34Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894366 GRCh38 Chromosome 12, 25245284: 25245284
7 KRAS NM_033360.3(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh37 Chromosome 12, 25398304: 25398304
8 KRAS NM_033360.3(KRAS): c.15A> T (p.Lys5Asn) single nucleotide variant Pathogenic rs104894361 GRCh38 Chromosome 12, 25245370: 25245370
9 KRAS NM_004985.4(KRAS): c.468C> G (p.Phe156Leu) single nucleotide variant Pathogenic rs104894362 GRCh37 Chromosome 12, 25362828: 25362828
10 KRAS NM_004985.4(KRAS): c.468C> G (p.Phe156Leu) single nucleotide variant Pathogenic rs104894362 GRCh38 Chromosome 12, 25209894: 25209894
11 KRAS NM_033360.3(KRAS): c.211T> C (p.Tyr71His) single nucleotide variant Pathogenic rs387907205 GRCh37 Chromosome 12, 25380247: 25380247
12 KRAS NM_033360.3(KRAS): c.211T> C (p.Tyr71His) single nucleotide variant Pathogenic rs387907205 GRCh38 Chromosome 12, 25227313: 25227313
13 KRAS NM_004985.4(KRAS): c.439A> G (p.Lys147Glu) single nucleotide variant Pathogenic rs387907206 GRCh37 Chromosome 12, 25378559: 25378559
14 KRAS NM_004985.4(KRAS): c.439A> G (p.Lys147Glu) single nucleotide variant Pathogenic rs387907206 GRCh38 Chromosome 12, 25225625: 25225625
15 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254
16 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh38 Chromosome 12, 25245320: 25245320
17 KRAS NM_004985.4(KRAS): c.112-5C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 25380351: 25380351
18 KRAS NM_004985.4(KRAS): c.112-5C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 25227417: 25227417

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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