KEGG   DISEASE: H00523Help
Entry
H00523                      Disease                                

Name
Noonan syndrome and related disorders, including:
Noonan syndrome (NS);
Leopard syndrome (LS);
Noonan syndrome-like with loose anagen hair (NS/LAH);
CBL-mutation associated syndrome (CBL);
Neurofibromatosis type 1 (NF1);
Neurofibromatosis type 2 (NF2);
Neurofibromatosis-Noonan syndrome (NFNS);
Legius syndrome;
Cardiofaciocutaneous syndrome (CFCS);
Costello syndrome (CS);
Watson syndrome
Description
Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are caused by aberrant signal transduction in mitogen activated protein kinase (MAPK) signaling pathway.
Category
Developmental disorder; Cardiovascular disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Gene
(NS, LS) PTPN11 [HSA:5781] [KO:K07293]
(NS, CFCS) KRAS [HSA:3845] [KO:K07827]
(NS) SOS1 [HSA:6654] [KO:K03099]
(NS, LS) RAF1 [HSA:369] [KO:K08845]
(NS) NRAS [HSA:4893] [KO:K07828]
(NS, LS, CFCS) BRAF [HSA:673] [KO:K04365]
(CBL) CBL [HSA:867] [KO:K04707]
(NS/LAH) SHOC2 [HSA:8036]
(CFCS) MEK1 [HSA:5604] [KO:K04368]
(CFCS) MEK2 [HSA:5605] [KO:K04369]
(NF1, NFNS) NF1 [HSA:4763] [KO:K08052]
(NF2) NF2 [HSA:4771] [KO:K16684]
(Legius) SPRED1 [HSA:161742] [KO:K04703]
(CS) HRAS [HSA:3265] [KO:K02833]
Other DBs
Reference
PMID:21396583 (gene, description)
  Authors
Tartaglia M, Gelb BD, Zenker M
  Title
Noonan syndrome and clinically related disorders.
  Journal
Best Pract Res Clin Endocrinol Metab 25:161-79 (2011)
Reference
PMID:19545378 (gene)
  Authors
Evans DG
  Title
Neurofibromatosis type 2 (NF2): a clinical and molecular review.
  Journal
Orphanet J Rare Dis 4:16 (2009)
Reference
PMID:8317503
  Authors
Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N
  Title
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family  with features of Watson syndrome and Noonan syndrome.
  Journal
Am J Hum Genet 53:90-5 (1993)

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