KEGG   DISEASE: Cardiofaciocutaneous syndromeHelp
Entry
H01745                      Disease                                

Name
Cardiofaciocutaneous syndrome
  Supergrp
Noonan syndrome and related disorders [DS:H00523]
Description
Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead, down-slanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears. CFC can be caused by mutations in BRAF, KRAS, MEK1, and MEK2, encoding components of the RAS-MAPK pathway.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01745  Cardiofaciocutaneous syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01745  Cardiofaciocutaneous syndrome
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
Gene
(CFC1) BRAF [HSA:673] [KO:K04365]
(CFC2) KRAS [HSA:3845] [KO:K07827]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C535579
OMIM: 115150 615278 615279 615280
Reference
  Authors
Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y
  Title
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
  Journal
Nat Genet 38:294-6 (2006)
DOI:10.1038/ng1749
Reference
  Authors
Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
  Title
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
  Journal
Clin Genet 73:62-70 (2008)
DOI:10.1111/j.1399-0004.2007.00931.x
LinkDB All DBs

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