CFC3
MCID: CRD164
MIFTS: 25

Cardiofaciocutaneous Syndrome 3 (CFC3)

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 3

MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 3:

Name: Cardiofaciocutaneous Syndrome 3 56 12 73 29 6 71
Cfc3 56 12 73
Cardiofaciocutaneous Syndrome, Type 3 39

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 3

UniProtKB/Swiss-Prot : 73 Cardiofaciocutaneous syndrome 3: 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. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures.

MalaCards based summary : Cardiofaciocutaneous Syndrome 3, is also known as cfc3. An important gene associated with Cardiofaciocutaneous Syndrome 3 is MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1). Affiliated tissues include skin, heart and bone, and related phenotypes are pectus excavatum and seizures

Disease Ontology : 12 A cardiofaciocutaneous syndrome that has material basis in heterozygous mutation in MAP2K1 on chromosome 15q22.31.

OMIM : 56 Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008). (615279)

Related Diseases for Cardiofaciocutaneous Syndrome 3

Symptoms & Phenotypes for Cardiofaciocutaneous Syndrome 3

Human phenotypes related to Cardiofaciocutaneous Syndrome 3:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 HP:0000767
2 seizures 31 HP:0001250
3 failure to thrive 31 HP:0001508
4 scoliosis 31 HP:0002650
5 nystagmus 31 HP:0000639
6 hyperhidrosis 31 HP:0000975
7 muscular hypotonia 31 HP:0001252
8 global developmental delay 31 HP:0001263
9 hypertrophic cardiomyopathy 31 HP:0001639
10 reduced bone mineral density 31 HP:0004349
11 wide mouth 31 HP:0000154
12 pulmonic stenosis 31 HP:0001642
13 curly hair 31 HP:0002212
14 abnormality of the palpebral fissures 31 HP:0008050
15 heat intolerance 31 HP:0002046
16 hyperkeratosis pilaris 31 HP:0040180

Clinical features from OMIM:

615279

Drugs & Therapeutics for Cardiofaciocutaneous Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 3

Genetic Tests for Cardiofaciocutaneous Syndrome 3

Genetic tests related to Cardiofaciocutaneous Syndrome 3:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 3 29 MAP2K1

Anatomical Context for Cardiofaciocutaneous Syndrome 3

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 3:

40
Skin, Heart, Bone

Publications for Cardiofaciocutaneous Syndrome 3

Articles related to Cardiofaciocutaneous Syndrome 3:

# Title Authors PMID Year
1
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 56 6
18042262 2008
2
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 56 6
16439621 2006
3
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 6
17981815 2008
4
Cardiofaciocutaneous Syndrome 6
20301365 2007

Variations for Cardiofaciocutaneous Syndrome 3

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 3:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAP2K1 NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser)SNV Pathogenic 13350 rs121908594 15:66727442-66727442 15:66435104-66435104
2 MAP2K1 NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys)SNV Pathogenic 13351 rs121908595 15:66729181-66729181 15:66436843-66436843
3 MAP2K1 NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly)SNV Pathogenic 190378 rs797044593 15:66729097-66729097 15:66436759-66436759
4 MAP2K1 NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn)SNV Pathogenic 40781 rs727504317 15:66727483-66727483 15:66435145-66435145
5 MAP2K1 NM_002755.3(MAP2K1):c.388T>A (p.Tyr130Asn)SNV Pathogenic 636238 15:66729180-66729180 15:66436842-66436842
6 MAP2K1 NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser)SNV Pathogenic/Likely pathogenic 375981 rs1057519732 15:66729162-66729162 15:66436824-66436824
7 MAP2K1 NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val)SNV Pathogenic/Likely pathogenic 13352 rs121908596 15:66729175-66729175 15:66436837-66436837
8 MAP2K1 NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp)SNV Conflicting interpretations of pathogenicity 228273 rs876657651 15:66729156-66729156 15:66436818-66436818
9 MAP2K1 NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu)SNV Uncertain significance 280446 rs727504819 15:66729115-66729115 15:66436777-66436777
10 MAP2K1 NM_002755.3(MAP2K1):c.370C>A (p.Pro124Thr)SNV Uncertain significance 40742 rs1057519732 15:66729162-66729162 15:66436824-66436824
11 MAP2K1 NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)SNV Uncertain significance 582017 rs771613524 15:66781553-66781553 15:66489215-66489215

UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 MAP2K1 p.Phe53Ser VAR_035093 rs121908594
2 MAP2K1 p.Tyr130Cys VAR_035094 rs121908595
3 MAP2K1 p.Gly128Val VAR_069780 rs730880508

Expression for Cardiofaciocutaneous Syndrome 3

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 3.

Pathways for Cardiofaciocutaneous Syndrome 3

GO Terms for Cardiofaciocutaneous Syndrome 3

Sources for Cardiofaciocutaneous Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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