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Noonan syndrome and Noonan-related syndrome

MedGen UID:
1826127
•Concept ID:
C5681679
•
Disease or Syndrome
Monarch Initiative: MONDO:0020297
Orphanet: ORPHA98733

Professional guidelines

PubMed

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
Tamburrino F, Mazzanti L, Scarano E, Gibertoni D, Sirolli M, Zioutas M, Schiavariello C, Perri A, Mantovani A, Rossi C, Tartaglia M, Pession A
Front Endocrinol (Lausanne) 2023;14:1209339. Epub 2023 Jul 31 doi: 10.3389/fendo.2023.1209339. PMID: 37588986Free PMC Article
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):478-493. Epub 2022 Dec 14 doi: 10.1002/ajmg.c.32019. PMID: 36515923

Recent clinical studies

Etiology

Nutritional aspects of Noonan syndrome and Noonan-related disorders.
da Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D
Am J Med Genet A 2016 Jun;170(6):1525-31. Epub 2016 Apr 1 doi: 10.1002/ajmg.a.37639. PMID: 27038324
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR, de Almeida TF, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR
Clinics (Sao Paulo) 2013;68(8):1079-83. doi: 10.6061/clinics/2013(08)03. PMID: 24037001Free PMC Article
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.
Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR
Am J Med Genet A 2012 May;158A(5):1178-84. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35270. PMID: 22488932
Noonan syndrome, the Ras-MAPK signalling pathway and short stature.
Binder G
Horm Res 2009 Apr;71 Suppl 2:64-70. Epub 2009 Apr 29 doi: 10.1159/000192439. PMID: 19407499

Diagnosis

Nutritional aspects of Noonan syndrome and Noonan-related disorders.
da Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D
Am J Med Genet A 2016 Jun;170(6):1525-31. Epub 2016 Apr 1 doi: 10.1002/ajmg.a.37639. PMID: 27038324
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
Quaio CR, Carvalho JF, da Silva CA, Bueno C, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR
Am J Med Genet A 2012 May;158A(5):1077-82. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35290. PMID: 22488759

Prognosis

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
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
Am J Hum Genet 2013 Jul 11;93(1):173-80. Epub 2013 Jun 20 doi: 10.1016/j.ajhg.2013.05.021. PMID: 23791108Free PMC Article

Clinical prediction guides

Nutritional aspects of Noonan syndrome and Noonan-related disorders.
da Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D
Am J Med Genet A 2016 Jun;170(6):1525-31. Epub 2016 Apr 1 doi: 10.1002/ajmg.a.37639. PMID: 27038324
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Quaio CR, de Almeida TF, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR
Clinics (Sao Paulo) 2013;68(8):1079-83. doi: 10.6061/clinics/2013(08)03. PMID: 24037001Free PMC Article
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.
Quaio CR, Carvalho JF, da Silva CA, Bueno C, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR
Am J Med Genet A 2012 May;158A(5):1077-82. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35290. PMID: 22488759

Recent systematic reviews

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.
Bader-Meunier B, Cavé H, Jeremiah N, Magerus A, Lanzarotti N, Rieux-Laucat F, Cormier-Daire V
Semin Arthritis Rheum 2013 Oct;43(2):217-9. Epub 2013 Jun 17 doi: 10.1016/j.semarthrit.2013.04.009. PMID: 23786871

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