Cardiofaciocutaneous syndrome 2

Preferred Label : Cardiofaciocutaneous syndrome 2;

Symbol : CFC2;

CISMeF acronym : CFC2;

Type : Phenotype, molecular basis known;

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). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in KRAS protooncogene, GTPase (KRAS, 190070.0009);

Prefixed ID : #615278;

Détails

Origin ID

615278;

UMLS CUI

C3809005;

Automatic exact mappings (from CISMeF team)
- KRAS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- cardiofaciocutaneous syndrome 2 [DO Concept]
DO Cross reference
- cardiofaciocutaneous syndrome 2 [DO Concept]
Genes related to phenotype
- Kras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Absent eyebrow [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Coarse facial features [HPO term]
- Curly hair [HPO term]
- Fine hair [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Low-set ears [HPO term]
- Mitral valve prolapse [HPO term]
- Myopia [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Cardiofaciocutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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