KEGG   DISEASE: Noonan syndrome and related disordersHelp
Entry
H00523                      Disease                                

Name
Noonan syndrome and related disorders
  Subgroup
Noonan syndrome (NS) [DS:H01738]
Leopard syndrome (LPRD) [DS:H01984]
Cardiofaciocutaneous syndrome (CFCS) [DS:H01745]
Costello syndrome (CS) [DS:H01747]
Neurofibromatosis-Noonan syndrome (NFNS) [DS:H02189]
Noonan-like syndrome with loose anagen hair (NSLH) [DS:H02191]
CBL syndrome (CBL) [DS:H02190]
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00523  Noonan syndrome and related disorders
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
    H00523  Noonan syndrome and related disorders
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
Gene
(NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:369] [KO:K08845]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
MeSH: D009634 D044542 D056685
OMIM: 163950 151100 115150 218040 601321 607721 613563
Reference
  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: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
Reference
  Authors
Roberts AE, Allanson JE, Tartaglia M, Gelb BD
  Title
Noonan syndrome.
  Journal
Lancet 381:333-42 (2013)
DOI:10.1016/S0140-6736(12)61023-X

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