CFC3
MCID: CRD164
MIFTS: 24

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 57 74 29 6 72
Cfc3 57 74
Cardiofaciocutaneous Syndrome, Type 3 40

Classifications:



External Ids:

UMLS 72 C3809006

Summaries for Cardiofaciocutaneous Syndrome 3

UniProtKB/Swiss-Prot : 74 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 nystagmus

OMIM : 57 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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 nystagmus 32 HP:0000639
3 hyperhidrosis 32 HP:0000975
4 seizures 32 HP:0001250
5 muscular hypotonia 32 HP:0001252
6 failure to thrive 32 HP:0001508
7 scoliosis 32 HP:0002650
8 global developmental delay 32 HP:0001263
9 hypertrophic cardiomyopathy 32 HP:0001639
10 reduced bone mineral density 32 HP:0004349
11 wide mouth 32 HP:0000154
12 pulmonic stenosis 32 HP:0001642
13 curly hair 32 HP:0002212
14 abnormality of the palpebral fissures 32 HP:0008050
15 heat intolerance 32 HP:0002046
16 hyperkeratosis pilaris 32 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:

41
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. 8 71
18042262 2008
2
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 8 71
16439621 2006
3
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 71
17981815 2008
4
Cardiofaciocutaneous Syndrome 71
20301365 2007

Variations for Cardiofaciocutaneous Syndrome 3

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAP2K1 NM_002755.3(MAP2K1): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs797044593 15:66729097-66729097 15:66436759-66436759
2 MAP2K1 NM_002755.3(MAP2K1): c.388T> A (p.Tyr130Asn) single nucleotide variant Pathogenic 15:66729180-66729180 15:66436842-66436842
3 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic rs727504317 15:66727483-66727483 15:66435145-66435145
4 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 15:66729181-66729181 15:66436843-66436843
5 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 15:66727442-66727442 15:66435104-66435104
6 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 15:66729175-66729175 15:66436837-66436837
7 MAP2K1 NM_002755.3(MAP2K1): c.364A> G (p.Asn122Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs876657651 15:66729156-66729156 15:66436818-66436818
8 MAP2K1 NM_002755.3(MAP2K1): c.323G> T (p.Arg108Leu) single nucleotide variant Uncertain significance rs727504819 15:66729115-66729115 15:66436777-66436777
9 MAP2K1 NM_002755.3(MAP2K1): c.370C> A (p.Pro124Thr) single nucleotide variant Uncertain significance 15:66729162-66729162 15:66436824-66436824
10 MAP2K1 NM_002755.3(MAP2K1): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance 15:66781553-66781553 15:66489215-66489215

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

74
# 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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