|
CFC1
MCID: CRD224
MIFTS: 64
|
Cardiofaciocutaneous Syndrome 1 (CFC1)
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
|
|
|
|
MalaCards integrated aliases for Cardiofaciocutaneous Syndrome 1:
Characteristics:Orphanet epidemiological data:59
cardiofaciocutaneous syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
associated with advanced paternal age most cases are sporadic autosomal dominant transmission has been rarely reported phenotypic similarities to noonan syndrome phenotypic similarities to costello syndrome HPO:32
cardiofaciocutaneous syndrome 1:
Onset and clinical course congenital onset Inheritance autosomal dominant inheritance GeneReviews:24
Penetrance
Penetrance is complete in cfc syndrome...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Cardiovascular diseases Skin diseases
ICD10:
33
34
Orphanet: 59
Rare neurological diseases
Rare cardiac malformations
Rare skin diseases
Developmental anomalies during embryogenesis
|
|
OMIM
:
57
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011).
Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1; 163950) and Costello syndrome (218040).
(115150)
MalaCards based summary : Cardiofaciocutaneous Syndrome 1, also known as cardiofaciocutaneous syndrome, is related to costello syndrome and noonan syndrome 1. An important gene associated with Cardiofaciocutaneous Syndrome 1 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are MAPK signaling pathway and Signaling by GPCR. Affiliated tissues include heart, skin and bone, and related phenotypes are macrocephaly and hypertelorism UniProtKB/Swiss-Prot : 75 Cardiofaciocutaneous syndrome 1: 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. NIH Rare Diseases : 53 Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome. These syndromes belong to a group of related conditions called the RASopathies, which are distinguished by their genetic causes and specific pattern of features. It can sometimes be hard to tell these conditions apart in infancy. CFC syndrome is usually caused by a mutation in the BRAF gene, but can also be due to a mutation in the MAP2K1, MAP2K2 or KRAS gene. It is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person. Treatment depends on the symptoms in each person and may include surgery for heart defects. Genetics Home Reference : 25 Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Disease Ontology : 12 A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is that has material basis in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. Wikipedia : 76 Cardiofaciocutaneous (CFC) syndrome is an extremely rare and serious genetic... more...
GeneReviews:
NBK1186
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:115150Human phenotypes related to Cardiofaciocutaneous Syndrome 1:59 32 (show top 50) (show all 124)
GenomeRNAi Phenotypes related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:26 (show all 15)
MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome 1:46 (show all 17)
|
|
|
MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome 1:41
Heart,
Skin,
Bone,
Brain,
Eye,
Tongue
|
Articles related to Cardiofaciocutaneous Syndrome 1:(show all 40)
|
|
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome 1:75 (show all 24)
ClinVar genetic disease variations for Cardiofaciocutaneous Syndrome 1:6
|
|
Search
GEO
for disease gene expression data for Cardiofaciocutaneous Syndrome 1.
|
Pathways related to Cardiofaciocutaneous Syndrome 1 according to KEGG:37
Pathways related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:(show top 50) (show all 182)
|
Cellular components related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:(show all 37)
Molecular functions related to Cardiofaciocutaneous Syndrome 1 according to GeneCards Suite gene sharing:
|
|