Cardiofaciocutaneous syndrome 3

Preferred Label : Cardiofaciocutaneous syndrome 3;

Symbol : CFC3;

CISMeF acronym : CFC3;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in mitogen-activated protein kinase kinase 1 gene (MAP2K1, 176872.0001);

Neoplasia : Hepatoblastoma (rare);

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

Prefixed ID : #615279;

Details

Origin ID

615279;

UMLS CUI

C3809006;

Automatic exact mappings (from CISMeF team)
- MAP2K1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- cardiofaciocutaneous syndrome 3 [DO Concept]
DO Cross reference
- cardiofaciocutaneous syndrome 3 [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase 1 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Curly hair [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Heat intolerance [HPO term]
- Hyperhidrosis [HPO term]
- Hyperkeratosis [HPO term]
- Hyperkeratosis pilaris [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Keratosis pilaris [HPO term]
- Nystagmus [HPO term]
- Pectus excavatum [HPO term]
- Pulmonic stenosis [HPO term]
- Reduced bone mineral density [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Cardiofaciocutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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