MCID: CRD164
MIFTS: 21

Cardiofaciocutaneous Syndrome 3

Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases, Cardiovascular diseases, Neuronal 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 seizures, pectus excavatum 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 : 53 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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 pectus excavatum 31 HP:0000767
3 nystagmus 31 HP:0000639
4 hyperhidrosis 31 HP:0000975
5 muscular hypotonia 31 HP:0001252
6 failure to thrive 31 HP:0001508
7 scoliosis 31 HP:0002650
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 heat intolerance 31 HP:0002046
15 hyperkeratosis pilaris 31 HP:0040180
16 abnormality of the palpebral fissures 31 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:

# Genetic test Affiliating Genes
1 Cardiofaciocutaneous Syndrome 3 28 MAP2K1

Anatomical Context for Cardiofaciocutaneous Syndrome 3

MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 3:

38
Skin, Heart, Bone

Publications for Cardiofaciocutaneous Syndrome 3

Variations for Cardiofaciocutaneous Syndrome 3

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

71
# 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
# 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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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50 NINDS
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53 OMIM
54 OMIM via Orphanet
58 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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