Cardiofaciocutaneous Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cardiovascular diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 68UniProtKB/Swiss-Prot, 48Novoseek, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Cardiofaciocutaneous Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: Antenatal,Neonatal; Age of death: any age
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Skin diseases, Cardiovascular diseases
ICD10: 29 28
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:50 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial... (115150) more...
MalaCards based summary: Cardiofaciocutaneous Syndrome, also known as cfc syndrome, is related to cardiofaciocutaneous syndrome 3 and cardiofaciocutaneous syndrome 2, and has symptoms including long face, coarse facial features and full cheeks. An important gene associated with Cardiofaciocutaneous Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways are Thyroid cancer and Development_Leptin signaling via JAK/STAT and MAPK cascades. Affiliated tissues include heart, skin and tongue, and related mouse phenotypes are muscle and hearing/vestibular/ear.
Disease Ontology:11 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 caused by mutation in the braf, map2k1, map2kk2 and kras genes.
Genetics Home Reference:24 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.
NIH Rare Diseases:46 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. last updated: 5/6/2015
UniProtKB/Swiss-Prot:68 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.
Wikipedia:69 Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder. more...
GeneReviews summary for NBK1186
Symptoms by clinical synopsis from OMIM:115150
Clinical features from OMIM:115150
Symptoms:52 (show all 79)
HPO human phenotypes related to Cardiofaciocutaneous Syndrome:(show all 138)
MalaCards organs/tissues related to Cardiofaciocutaneous Syndrome:34
Heart, Skin, Tongue, Eye, Bone
MGI Mouse Phenotypes related to Cardiofaciocutaneous Syndrome:39 (show all 27)
Articles related to Cardiofaciocutaneous Syndrome:(show all 36)
UniProtKB/Swiss-Prot genetic disease variations for Cardiofaciocutaneous Syndrome:68 (show all 24)
Clinvar genetic disease variations for Cardiofaciocutaneous Syndrome:5 (show all 41)
Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome.
Pathways related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 210)
Cellular components related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:(show all 43)
Molecular functions related to Cardiofaciocutaneous Syndrome according to GeneCards Suite gene sharing:(show all 13)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet