Cardiofaciocutaneous syndrome 1

Preferred Label : Cardiofaciocutaneous syndrome 1;

Symbol : CFC1;

CISMeF acronym : CFCS; CFC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cfc syndrome; CFCS;

Description : 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). - Genetic Heterogeneity of Cardiofaciocutaneous Syndrome Other forms of cardiofaciocutaneous syndrome include CFC2 (615278), caused by mutation in the KRAS gene (190070); CFC3 (615279), caused by mutation in the MAP2K1 gene (176872); and CFC4 (615280), caused by mutation in the MAP2K2 gene (601263). The protein products of these causative genes, including BRAF, interact in a common RAS/ERK (see 601795) pathway that regulates cell differentiation, proliferation, and apoptosis (summary by Roberts et al., 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the B-Raf protooncogene, serine/threonine kinase, gene (BRAF, 164757.0012);

Laboratory abnormalities : Elevated homovanillic acid (HVA); Elevated vanillylmandelic acid (VMA);

Prefixed ID : #115150;

Details

Origin ID

115150;

UMLS CUI

C1275081;

Automatic exact mappings (from CISMeF team)
- CFC1 Gene [NCIt concept]
- Cryptic Protein [NCIt concept]
- PTPN11 wt Allele [NCIt concept]
- cardiofaciocutaneous syndrome 1 [DO Concept]
- cripto, FRL-1, cryptic family 1 [HGNC gene]
- cripto, FRL-1, cryptic family 1 [ORDO Gene]
Currated CISMeF NLP mapping
- CFC syndrome [MedDRA LLT]
- Cardio facio cutaneous syndrome [PASCAL descriptor]
- Cardio-facio-cutaneous syndrome [ICD-11 More detail]
- Cardio-facio-cutaneous syndrome (disorder) [SNOMED CT concept]
- Cardiofaciocutaneous Syndrome [NCIt concept]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- Cardiofaciocutaneous syndrome [MeSH concept]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- cardiofaciocutaneous syndrome [Disease (Nov.)]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [MeSH Supplementary Concept]
DO Cross reference
- cardiofaciocutaneous syndrome 1 [DO Concept]
Genes related to phenotype
- B-raf protooncogene, serine/threonine kinase [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Absent eyebrow [HPO term]
- Absent eyebrows and eyelashes [HPO term]
- Absent eyelashes [HPO term]
- Anterior creases of earlobe [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Atopic dermatitis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bitemporal narrowing [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cavernous hemangioma [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Deep palmar crease [HPO term]
- Deep philtrum [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Gastroesophageal reflux [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hyperhidrosis [HPO term]
- Hyperkeratosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplasia of the frontal lobes [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Keratosis pilaris [HPO term]
- Large earlobe [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Multiple lentigines [HPO term]
- Multiple plantar creases [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Numerous nevi [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Onset in utero [HPO term]
- Open bite [HPO term]
- Open mouth [HPO term]
- Optic nerve dysplasia [HPO term]
- Osteopenia [HPO term]
- Palpebral thickening [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature birth [HPO term]
- Progressive visual loss [HPO term]
- Prominent forehead [HPO term]
- Prominent philtrum [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Relative macrocephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe atopic dermatitis [HPO term]
- Shallow orbital ridges [HPO term]
- Shield chest [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short, upturned nose [HPO term]
- Slow-growing hair [HPO term]
- Sparse hair [HPO term]
- Splenomegaly [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Thick vermilion border [HPO term]
- Tongue thrusting [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Vomiting [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Cardiofaciocutaneous syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CFC syndrome [MedDRA LLT]
- Cardio-facio-cutaneous syndrome (disorder) [SNOMED CT concept]
- Cardiofaciocutaneous Syndrome [NCIt concept]
- Cardiofaciocutaneous syndrome [ORDO Disease]
- Cardiofaciocutaneous syndrome [MeSH concept]
- Cardiofaciocutaneous syndrome [MedDRA Preferred Term]
- cardiofaciocutaneous syndrome [MeSH Supplementary Concept]
- cardiofaciocutaneous syndrome [DO Concept]
- cardiofaciocutaneous syndrome [Disease (Nov.)]

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