CFC4
MCID: CRD167
MIFTS: 21

Cardiofaciocutaneous Syndrome 4 (CFC4)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 4

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 4:

Name: Cardiofaciocutaneous Syndrome 4 57 75 29 6 73
Cfc4 57 75
Cardiofaciocutaneous Syndrome, Type 4 40

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 4

UniProtKB/Swiss-Prot : 75 Cardiofaciocutaneous syndrome 4: 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.

MalaCards based summary : Cardiofaciocutaneous Syndrome 4, is also known as cfc4. An important gene associated with Cardiofaciocutaneous Syndrome 4 is MAP2K2 (Mitogen-Activated Protein Kinase Kinase 2). Affiliated tissues include skin and heart, and related phenotypes are nystagmus and hyperhidrosis

OMIM : 57 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010). (615280)

Related Diseases for Cardiofaciocutaneous Syndrome 4

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 4

Clinical features from OMIM:

615280

Human phenotypes related to Cardiofaciocutaneous Syndrome 4:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 hyperhidrosis 32 HP:0000975
3 muscular hypotonia 32 HP:0001252
4 scoliosis 32 HP:0002650
5 global developmental delay 32 HP:0001263
6 short stature 32 HP:0004322
7 strabismus 32 HP:0000486
8 myopia 32 HP:0000545
9 telecanthus 32 HP:0000506
10 optic nerve hypoplasia 32 HP:0000609
11 cerebellar hypoplasia 32 HP:0001321
12 high forehead 32 HP:0000348
13 pulmonic stenosis 32 HP:0001642
14 hyperextensible skin 32 HP:0000974
15 multiple lentigines 32 HP:0001003
16 abnormality of the sternum 32 HP:0000766
17 hypoplasia of the corpus callosum 32 HP:0002079
18 absent eyebrow 32 HP:0002223
19 congenital cataract 32 HP:0000519
20 heat intolerance 32 HP:0002046
21 narrow forehead 32 HP:0000341
22 abnormality of lateral ventricle 32 HP:0030047
23 abnormal ventricular septum morphology 32 HP:0010438
24 abnormal aortic valve morphology 32 HP:0001646

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 4

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 4

Genetic Tests for Cardiofaciocutaneous Syndrome 4

Genetic tests related to Cardiofaciocutaneous Syndrome 4:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 4 29 MAP2K2

Anatomical Context for Cardiofaciocutaneous Syndrome 4

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 4:

41
Skin, Heart

Publications for Cardiofaciocutaneous Syndrome 4

Variations for Cardiofaciocutaneous Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 4:

75
# Symbol AA change Variation ID SNP ID
1 MAP2K2 p.Phe57Cys VAR_035095 rs121434497
2 MAP2K2 p.Phe57Val VAR_069781 rs121434498
3 MAP2K2 p.Pro128Gln VAR_069782 rs267607230
4 MAP2K2 p.Tyr134His VAR_069783 rs121434499

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 4:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP2K2 NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys) single nucleotide variant Pathogenic rs121434497 GRCh37 Chromosome 19, 4117550: 4117550
2 MAP2K2 NM_030662.3(MAP2K2): c.170T> G (p.Phe57Cys) single nucleotide variant Pathogenic rs121434497 GRCh38 Chromosome 19, 4117552: 4117552
3 MAP2K2 NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val) single nucleotide variant Pathogenic rs121434498 GRCh37 Chromosome 19, 4117551: 4117551
4 MAP2K2 NM_030662.3(MAP2K2): c.169T> G (p.Phe57Val) single nucleotide variant Pathogenic rs121434498 GRCh38 Chromosome 19, 4117553: 4117553
5 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Likely pathogenic rs121434499 GRCh37 Chromosome 19, 4110557: 4110557
6 MAP2K2 NM_030662.3(MAP2K2): c.400T> C (p.Tyr134His) single nucleotide variant Likely pathogenic rs121434499 GRCh38 Chromosome 19, 4110559: 4110559
7 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh37 Chromosome 19, 4110574: 4110574
8 MAP2K2 NM_030662.3(MAP2K2): c.383C> A (p.Pro128Gln) single nucleotide variant Pathogenic rs267607230 GRCh38 Chromosome 19, 4110576: 4110576
9 MAP2K2 NM_030662.3(MAP2K2): c.395G> A (p.Gly132Asp) single nucleotide variant Likely pathogenic rs387906800 GRCh37 Chromosome 19, 4110562: 4110562
10 MAP2K2 NM_030662.3(MAP2K2): c.395G> A (p.Gly132Asp) single nucleotide variant Likely pathogenic rs387906800 GRCh38 Chromosome 19, 4110564: 4110564
11 MAP2K2 NM_030662.3(MAP2K2): c.580+6G> A single nucleotide variant Benign rs201435249 GRCh37 Chromosome 19, 4101221: 4101221
12 MAP2K2 NM_030662.3(MAP2K2): c.580+6G> A single nucleotide variant Benign rs201435249 GRCh38 Chromosome 19, 4101223: 4101223
13 MAP2K2 NM_030662.3(MAP2K2): c.660C> A (p.Ile220=) single nucleotide variant Benign rs10250 GRCh37 Chromosome 19, 4101062: 4101062
14 MAP2K2 NM_030662.3(MAP2K2): c.660C> A (p.Ile220=) single nucleotide variant Benign rs10250 GRCh38 Chromosome 19, 4101064: 4101064
15 MAP2K2 NM_030662.3(MAP2K2): c.919+12A> G single nucleotide variant Benign rs350911 GRCh37 Chromosome 19, 4099187: 4099187
16 MAP2K2 NM_030662.3(MAP2K2): c.919+12A> G single nucleotide variant Benign rs350911 GRCh38 Chromosome 19, 4099189: 4099189
17 MAP2K2 NM_030662.3(MAP2K2): c.937C> T (p.Arg313Trp) single nucleotide variant Uncertain significance rs772831628 GRCh37 Chromosome 19, 4097324: 4097324
18 MAP2K2 NM_030662.3(MAP2K2): c.937C> T (p.Arg313Trp) single nucleotide variant Uncertain significance rs772831628 GRCh38 Chromosome 19, 4097326: 4097326
19 MAP2K2 NM_030662.3(MAP2K2): c.191T> G (p.Val64Gly) single nucleotide variant Likely pathogenic rs1135401787 GRCh38 Chromosome 19, 4117531: 4117531
20 MAP2K2 NM_030662.3(MAP2K2): c.191T> G (p.Val64Gly) single nucleotide variant Likely pathogenic rs1135401787 GRCh37 Chromosome 19, 4117529: 4117529

Expression for Cardiofaciocutaneous Syndrome 4

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 4.

Pathways for Cardiofaciocutaneous Syndrome 4

GO Terms for Cardiofaciocutaneous Syndrome 4

Sources for Cardiofaciocutaneous Syndrome 4

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