KEGG   DISEASE: Noonan syndrome and related disordersHelp
H00523                      Disease                                

Noonan syndrome and related disorders
Noonan syndrome (NS) [DS:H01738]
Leopard syndrome (LS) [DS:H01984]
Noonan syndrome-like with loose anagen hair (NS/LAH)
CBL syndrome (CBL)
Neurofibromatosis type 1 (NF1) [DS:H01437]
Neurofibromatosis-Noonan syndrome (NFNS)
Legius syndrome [DS:H01986]
Cardiofaciocutaneous syndrome (CFCS) [DS:H01745]
Costello syndrome (CS) [DS:H01747]
Watson syndrome
Male hypogonadism [DS:H02027]
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.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   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
hsa04010  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]
(Legius) SPRED1 [HSA:161742] [KO:K04703]
(CS) HRAS [HSA:3265] [KO:K02833]
Other DBs
ICD-10: Q87.1 Q87.8 Q85.0
MeSH: D009634 D044542 D056685
OMIM: 163950 609942 610733 611553 613224 613706 151100 611554 613707 607721 613563 162200 101000 601321 611431 115150 218040 193520 162210 615355
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)
Rauen KA
The RASopathies.
Annu Rev Genomics Hum Genet 14:355-69 (2013)

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