KEGG   DISEASE: Noonan syndrome and related disordersHelp
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
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00523  Noonan syndrome
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
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] [KO:K19613]
(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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