MCID: CRD164
MIFTS: 24

Cardiofaciocutaneous Syndrome 3

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

Aliases & Classifications for Cardiofaciocutaneous Syndrome 3

Summaries for Cardiofaciocutaneous Syndrome 3

UniProtKB/Swiss-Prot : 71 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, and has symptoms including failure to thrive, scoliosis and nystagmus. An important gene associated with Cardiofaciocutaneous Syndrome 3 is MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1). Affiliated tissues include skin, heart and bone.

OMIM : 54
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

Clinical features from OMIM:

615279

Human phenotypes related to Cardiofaciocutaneous Syndrome 3:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 scoliosis 32 HP:0002650
3 nystagmus 32 HP:0000639
4 wide mouth 32 HP:0000154
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 hypertrophic cardiomyopathy 32 HP:0001639
8 pulmonic stenosis 32 HP:0001642
9 pectus excavatum 32 HP:0000767
10 curly hair 32 HP:0002212
11 muscular hypotonia 32 HP:0001252
12 hyperhidrosis 32 HP:0000975
13 heat intolerance 32 HP:0002046
14 hyperkeratosis pilaris 32 HP:0040180
15 reduced bone mineral density 32 HP:0004349
16 abnormality of the palpebral fissures 32 HP:0008050

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:

id Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 3 29

Anatomical Context for Cardiofaciocutaneous Syndrome 3

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 3:

39
Skin, Heart, Bone

Publications for Cardiofaciocutaneous Syndrome 3

Variations for Cardiofaciocutaneous Syndrome 3

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 MAP2K1 NM_002755.3(MAP2K1): c.158T> C (p.Phe53Ser) single nucleotide variant Pathogenic rs121908594 GRCh37 Chromosome 15, 66727442: 66727442
2 MAP2K1 NM_002755.3(MAP2K1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs121908595 GRCh37 Chromosome 15, 66729181: 66729181
3 MAP2K1 NM_002755.3(MAP2K1): c.383G> T (p.Gly128Val) single nucleotide variant Pathogenic/Likely pathogenic rs121908596 GRCh37 Chromosome 15, 66729175: 66729175
4 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic/Likely pathogenic rs727504317 GRCh37 Chromosome 15, 66727483: 66727483
5 MAP2K1 NM_002755.3(MAP2K1): c.305A> G (p.Glu102Gly) single nucleotide variant Pathogenic rs797044593 GRCh38 Chromosome 15, 66436759: 66436759

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
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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