cardiofaciocutaneous syndrome

Summary
Synonym
  • CFC syndrome
  • cardio-facial-cutaneous syndrome
Definition
A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
Super Class
RASopathy monogenic disease
External Links
Disease Ontology
DOID:0060233
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
673 BRAF B-Raf proto-oncogene, serine/threonine kinase
55997 CFC1 cryptic, EGF-CFC family member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
109880 Braf Braf transforming gene
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P0CG37 Cryptic protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024