KEGG   DISEASE: Noonan syndromeHelp
Entry
H01738                      Disease                                

Name
Noonan syndrome
  Supergrp
Syndromic craniosynostoses [DS:H00458]
Noonan syndrome and related disorders [DS:H00523]
Description
Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive delay. In addition, individuals with NS have an increased risk of developing cancer. NS is caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway. Heterozygous, pathogenic variants in 9 known genes account for approximately 80% of cases. The most common gene associated with NS is PTPN11, which accounts for approximately 50% of all cases.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01738  Noonan syndrome
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
    H01738  Noonan syndrome
BRITE hierarchy
Pathway
hsa04014  Ras signaling pathway
hsa04010  MAPK signaling pathway
Gene
(NS1) PTPN11 [HSA:5781] [KO:K07293]
(NS3) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5) RAF1 [HSA:369] [KO:K08845]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
Other DBs
ICD-11: LD2F.15
ICD-10: Q87.1
MeSH: D009634
OMIM: 163950 609942 610733 611553 613224 613706 615355 616559 616564
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
  Authors
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR
  Title
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
  Journal
J Med Genet 52:413-21 (2015)
DOI:10.1136/jmedgenet-2015-103018
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