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RASopathy

MedGen UID:
1792298
Concept ID:
C5555857
Disease or Syndrome
Synonyms: Noonan spectrum disorder; rasopathies
 
Related genes: SPRED1, ARHGAP26, LZTR1, SHOC2, SOS1, RIT1, RAF1, PTPN11, MAP2K1, NRAS, NF1, KRAS, HRAS, CBL, BRAF
 
Monarch Initiative: MONDO:0021060
Orphanet: ORPHA536391

Definition

A group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines syndrome, and Noonan syndrome. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA
Am J Med Genet A 2019 Sep;179(9):1725-1744. Epub 2019 Jun 20 doi: 10.1002/ajmg.a.61270. PMID: 31222966Free PMC Article

Recent clinical studies

Etiology

Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y
Radiographics 2024 May;44(5):e230153. doi: 10.1148/rg.230153. PMID: 38602868
Stevenson DA, Viscogliosi G, Leoni C
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):459-470. Epub 2022 Dec 2 doi: 10.1002/ajmg.c.32020. PMID: 36461161
Zenker M
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):414-424. Epub 2022 Nov 25 doi: 10.1002/ajmg.c.32015. PMID: 36428239
Hebron KE, Hernandez ER, Yohe ME
Dis Model Mech 2022 Feb 1;15(2) Epub 2022 Feb 18 doi: 10.1242/dmm.049107. PMID: 35178568Free PMC Article
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article

Diagnosis

Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G
Heart Fail Clin 2022 Jan;18(1):19-29. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.004. PMID: 34776080Free PMC Article
Patnaik MM, Lasho TL
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. PMID: 33275756Free PMC Article
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003

Therapy

Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A
Hum Genomics 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. PMID: 38520002Free PMC Article
Chaput D, Andelfinger G
Can J Cardiol 2024 May;40(5):789-799. Epub 2024 Mar 1 doi: 10.1016/j.cjca.2024.02.020. PMID: 38432396
Bergqvist C, Wolkenstein P
Curr Opin Oncol 2021 Mar 1;33(2):110-119. doi: 10.1097/CCO.0000000000000711. PMID: 33395032
Staedtke V, Gray-Bethke T, Riggins GJ, Bai RY
Genes (Basel) 2020 Jul 8;11(7) doi: 10.3390/genes11070762. PMID: 32650362Free PMC Article
Staedtke V, Bai RY, Blakeley JO
Neurotherapeutics 2017 Apr;14(2):298-306. doi: 10.1007/s13311-017-0518-y. PMID: 28349408Free PMC Article

Prognosis

Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G
Heart Fail Clin 2022 Jan;18(1):19-29. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.004. PMID: 34776080Free PMC Article
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Patnaik MM, Lasho TL
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. PMID: 33275756Free PMC Article
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Kiel C, Serrano L
Mol Syst Biol 2014 May 6;10(5):727. doi: 10.1002/msb.20145092. PMID: 24803665Free PMC Article

Clinical prediction guides

Gonzalez LS, Fisher AA, D'Souza SP, Cotella EM, Lang RA, Robinson JE
Elife 2023 Apr 17;12 doi: 10.7554/eLife.85064. PMID: 37067979Free PMC Article
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Kiel C, Serrano L
Mol Syst Biol 2014 May 6;10(5):727. doi: 10.1002/msb.20145092. PMID: 24803665Free PMC Article
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S
Am J Med Genet A 2014 Apr;164A(4):934-42. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36374. PMID: 24458522

Recent systematic reviews

Windrich J, Ney GM, Rosenberg PS, Kim J, Zenker M, Stewart DR, Kratz CP
Clin Cancer Res 2024 Nov 15;30(22):5116-5121. doi: 10.1158/1078-0432.CCR-24-1928. PMID: 39287844Free PMC Article
Debbaut E, Steyaert J, El Bakkali M
Mol Genet Genomic Med 2024 Apr;12(4):e2428. doi: 10.1002/mgg3.2428. PMID: 38581124Free PMC Article
Makhamreh MM, Shivashankar K, Araji S, Critchlow E, O'Brien BM, Wodoslawsky S, Berger SI, Al-Kouatly HB
Am J Med Genet A 2024 May;194(5):e63494. Epub 2023 Dec 29 doi: 10.1002/ajmg.a.63494. PMID: 38156365
Scala M, Fiaschi P, Capra V, Garrè ML, Tortora D, Ravegnani M, Pavanello M
Childs Nerv Syst 2018 Jul;34(7):1311-1323. Epub 2018 May 24 doi: 10.1007/s00381-018-3833-7. PMID: 29797062
Gripp KW, Hopkins E, Doyle D, Dobyns WB
Am J Med Genet A 2010 May;152A(5):1161-8. doi: 10.1002/ajmg.a.33391. PMID: 20425820Free PMC Article

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