KEGG DISEASE: Cardiofaciocutaneous syndrome

KEGG

DISEASE: Cardiofaciocutaneous syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H01745  Cardiofaciocutaneous syndrome

Pathway

MAPK signaling pathway

Network

nt06526 MAPK signaling

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:

ICD-10:

MeSH:

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

» Japanese version

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