CFC3
MCID: CRD164
MIFTS: 21

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 58 76 30 6 74
Cfc3 58 76
Cardiofaciocutaneous Syndrome, Type 3 41

Classifications:



Summaries for Cardiofaciocutaneous Syndrome 3

UniProtKB/Swiss-Prot : 76 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 : 58 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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767
2 nystagmus 33 HP:0000639
3 hyperhidrosis 33 HP:0000975
4 seizures 33 HP:0001250
5 muscular hypotonia 33 HP:0001252
6 failure to thrive 33 HP:0001508
7 scoliosis 33 HP:0002650
8 global developmental delay 33 HP:0001263
9 hypertrophic cardiomyopathy 33 HP:0001639
10 reduced bone mineral density 33 HP:0004349
11 wide mouth 33 HP:0000154
12 pulmonic stenosis 33 HP:0001642
13 curly hair 33 HP:0002212
14 abnormality of the palpebral fissures 33 HP:0008050
15 heat intolerance 33 HP:0002046
16 hyperkeratosis pilaris 33 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 30 MAP2K1

Anatomical Context for Cardiofaciocutaneous Syndrome 3

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 3:

42
Skin, Heart, Bone

Publications for Cardiofaciocutaneous Syndrome 3

Variations for Cardiofaciocutaneous Syndrome 3

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

76
# 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

ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 3:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP2K1 NM_002755.3(MAP2K1): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs797044593 GRCh38 Chromosome 15, 66436759: 66436759
2 MAP2K1 NM_002755.3(MAP2K1): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs797044593 GRCh37 Chromosome 15, 66729097: 66729097
3 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh37 Chromosome 15, 66727442: 66727442
4 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh38 Chromosome 15, 66435104: 66435104
5 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh37 Chromosome 15, 66729181: 66729181
6 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh38 Chromosome 15, 66436843: 66436843
7 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 GRCh37 Chromosome 15, 66729175: 66729175
8 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 GRCh38 Chromosome 15, 66436837: 66436837
9 MAP2K1 NM_002755.3(MAP2K1): c.370C> A (p.Pro124Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 66729162: 66729162
10 MAP2K1 NM_002755.3(MAP2K1): c.370C> A (p.Pro124Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 66436824: 66436824
11 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic rs727504317 GRCh37 Chromosome 15, 66727483: 66727483
12 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic rs727504317 GRCh38 Chromosome 15, 66435145: 66435145

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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