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H00523                      Disease                                

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
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.
Developmental disorder; Cardiovascular disease
BRITE hierarchy
MAPK signaling pathway
(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]
(NS) RIT1 [HSA:6016] [KO:K07832]
(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
PMID:21396583 (gene, description)
Tartaglia M, Gelb BD, Zenker M
Noonan syndrome and clinically related disorders.
Best Pract Res Clin Endocrinol Metab 25:161-79 (2011)
PMID:19545378 (gene)
Evans DG
Neurofibromatosis type 2 (NF2): a clinical and molecular review.
Orphanet J Rare Dis 4:16 (2009)
Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family  with features of Watson syndrome and Noonan syndrome.
Am J Hum Genet 53:90-5 (1993)
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Am J Hum Genet 93:173-80 (2013)

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