KEGG   DISEASE: Noonan syndrome and related disordersHelp
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-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 germline mutations in genes that encode components or regulators of the Ras/MAPK pathway, and are called RASopathies.
Category
Developmental disorder; Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00523  Noonan syndrome and related disorders
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q85  Phakomatoses, not elsewhere classified
    H00523  Noonan syndrome
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00523  Noonan syndrome and related disorders
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]
(NS) RIT1 [HSA:6016] [KO:K07832]
(CBL) CBL [HSA:867] [KO:K04707]
(NS/LAH) SHOC2 [HSA:8036] [KO:K19613]
(CFCS) MEK1 [HSA:5604] [KO:K04368]
(CFCS) MEK2 [HSA:5605] [KO:K04369]
(NF1, NFNS) NF1 [HSA:4763] [KO:K08052]
(Legius) SPRED1 [HSA:161742] [KO:K04703]
(CS) HRAS [HSA:3265] [KO:K02833]
Comment
See also H01738 Noonan syndrome, H01745 Cardiofaciocutaneous syndrome, and H01747 Costello syndrome.
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)
DOI:10.1016/j.beem.2010.09.002
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)
DOI:10.1186/1750-1172-4-16
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)
Reference
  Authors
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
  Title
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
  Journal
Am J Hum Genet 93:173-80 (2013)
DOI:10.1016/j.ajhg.2013.05.021
Reference
  Authors
Rauen KA
  Title
The RASopathies.
  Journal
Annu Rev Genomics Hum Genet 14:355-69 (2013)
DOI:10.1146/annurev-genom-091212-153523

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