Cardiofaciocutaneous Syndrome 2 (CFC2)

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Disease Ontology 12 DOID:0111461 OMIM 56 615278 OMIM Phenotypic Series 56 PS115150 MeSH 43 D004476 D006330

MedGen 41 C3809005 CN176912 SNOMED-CT via HPO 68 11934000 128208007 224958001 225570000 247546006 253208007 253251006 263681008 27272007 409712001 422441003 53602002 56558005 57190000 60703000 708670007 8074002 95515009 more UMLS 71 C3809005

UniProtKB/Swiss-Prot : ⁷³ Cardiofaciocutaneous syndrome 2: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.

MalaCards based summary : Cardiofaciocutaneous Syndrome 2, also known as cfc2, is related to colorectal cancer, hereditary nonpolyposis, type 2 and cardiofaciocutaneous syndrome 1. An important gene associated with Cardiofaciocutaneous Syndrome 2 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Signaling by NODAL and Differentiation Pathway. Affiliated tissues include skin, heart and bone marrow, and related phenotypes are coarse facial features and global developmental delay

Disease Ontology : ¹² A cardiofaciocutaneous syndrome that has material basis in heterozygous mutation in KRAS on chromosome 12p12.1.

OMIM : ⁵⁶ 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 KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation. (615278)

Clinical features from OMIM:

615278

Search Clinical Trials , NIH Clinical Center for Cardiofaciocutaneous Syndrome 2

Search GEO for disease gene expression data for Cardiofaciocutaneous Syndrome 2.