MCID: CRD167
MIFTS: 21

Cardiofaciocutaneous Syndrome 4

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal 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 narrow forehead and high forehead

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

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 12)
# 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.191T> G (p.Val64Gly) single nucleotide variant Likely pathogenic rs1135401787 GRCh37 Chromosome 19, 4117529: 4117529
12 MAP2K2 NM_030662.3(MAP2K2): c.191T> G (p.Val64Gly) single nucleotide variant Likely pathogenic rs1135401787 GRCh38 Chromosome 19, 4117531: 4117531

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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