Cardiofaciocutaneous syndrome 4

Preferred Label : Cardiofaciocutaneous syndrome 4;

Symbol : CFC4;

CISMeF acronym : CFC4;

Type : Phenotype, molecular basis known;

Description : Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in mitogen-activated protein kinase kinase 2 (MAP2K2, 601263.0001);

Prefixed ID : #615280;

Details

Origin ID

615280;

UMLS CUI

C3809007;

Currated CISMeF NLP mapping
- cardiofaciocutaneous syndrome 4 [DO Concept]
DO Cross reference
- cardiofaciocutaneous syndrome 4 [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase 2 [OMIM gene]
HPO term(s)
- Abnormal aortic valve morphology [HPO term]
- Absent eyebrow [HPO term]
- Alopecia of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Childhood onset [HPO term]
- Curly hair [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Heat intolerance [HPO term]
- Hemangioma [HPO term]
- High forehead [HPO term]
- Hyperextensible skin [HPO term]
- Hyperhidrosis [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Joint laxity [HPO term]
- Keratosis pilaris [HPO term]
- Long face [HPO term]
- Multiple lentigines [HPO term]
- Myopia [HPO term]
- Narrow face [HPO term]
- Narrow forehead [HPO term]
- Nystagmus [HPO term]
- Optic nerve hypoplasia [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Prominent supraorbital ridges [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thin corpus callosum [HPO term]
- Ventricular septal hypertrophy [HPO term]
ORDO concept(s)
- Cardiofaciocutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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