Cardiofaciocutaneous syndrome
GPTKB entity
Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:CFC_syndrome
|
| gptkbp:characterizedBy |
intellectual disability
heart defects developmental delay distinctive facial features feeding difficulties skin abnormalities sparse, brittle hair |
| gptkbp:firstDescribed |
1986
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cardiofaciocutaneous syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:MAP2K1_gene
gptkb:MAP2K2_gene gptkb:BRAF_gene gptkb:KRAS_gene |
| gptkbp:namedAfter |
cardiac, facial, and cutaneous features
|
| gptkbp:OMIM |
115150
|
| gptkbp:partOf |
gptkb:RASopathy
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Costello_syndrome
gptkb:Noonan_syndrome |
| gptkbp:symptom |
gptkb:atrial_septal_defect
gptkb:eczema gptkb:gastrointestinal_reflux gptkb:hyperkeratosis gptkb:keratosis_pilaris gptkb:pulmonary_stenosis constipation hypotonia short stature hearing loss visual impairment seizures failure to thrive macrocephaly delayed speech dental anomalies epicanthal folds feeding problems in infancy hyperextensible joints hypertelorism lymphatic dysplasia ptosis sparse eyebrows sparse eyelashes undescended testes (in males) |
| gptkbp:bfsParent |
gptkb:KRAS
gptkb:chromosome_12p12.1_(KRAS) |
| gptkbp:bfsLayer |
5
|