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PIK3CA related overgrowth syndrome

MedGen UID:
1790024
Concept ID:
C4728213
Disease or Syndrome
Synonyms: PIK3CA related overgrowth spectrum; PIK3CA-associated segmental overgrowth; PIK3CA-Related Segmental Overgrowth
SNOMED CT: PROS - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth spectrum (737037004); Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (737037004); PIK3CA related overgrowth syndrome (737037004)
 
Monarch Initiative: MONDO:1040002
Orphanet: ORPHA530313

Authors:

Professional guidelines

PubMed

Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR
Eur J Med Genet 2022 Oct;65(10):104590. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104590. PMID: 35964931

Recent clinical studies

Etiology

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Triana P, Sarmiento MDC, Rodriguez-Laguna L, Martinez-Glez V, Lopez-Gutierrez JC
Ann Vasc Surg 2023 Jan;88:233-238. Epub 2022 Jul 22 doi: 10.1016/j.avsg.2022.06.097. PMID: 35878698
Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR
Eur J Med Genet 2022 Oct;65(10):104590. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104590. PMID: 35964931
Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V
Orphanet J Rare Dis 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. PMID: 33639990Free PMC Article
Boccara O, Galmiche-Rolland L, Dadone-Montaudié B, Ariche-Maman S, Coulet F, Eyries M, Pannier S, Soupre V, Molina T, Pedeutour F, Fraitag S
Histopathology 2020 Mar;76(4):540-549. Epub 2020 Jan 24 doi: 10.1111/his.14021. PMID: 31630434

Diagnosis

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Cohen-Cutler S, Blatt J, Bayliff S, Iacobas I, Hammill A, Sisk BA
J Pediatr 2023 Oct;261:113579. Epub 2023 Jun 22 doi: 10.1016/j.jpeds.2023.113579. PMID: 37353145
Triana P, Sarmiento MDC, Rodriguez-Laguna L, Martinez-Glez V, Lopez-Gutierrez JC
Ann Vasc Surg 2023 Jan;88:233-238. Epub 2022 Jul 22 doi: 10.1016/j.avsg.2022.06.097. PMID: 35878698
Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR
Eur J Med Genet 2022 Oct;65(10):104590. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104590. PMID: 35964931
Harnarayan P, Harnanan D
Vasc Health Risk Manag 2022;18:201-209. Epub 2022 Apr 2 doi: 10.2147/VHRM.S358849. PMID: 35401004Free PMC Article

Therapy

Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, Do HS, Jang JH, Yum MS, Yoo HW, Lee BH
BMC Med Genomics 2022 Sep 30;15(1):206. doi: 10.1186/s12920-022-01362-1. PMID: 36175890Free PMC Article
Garreta Fontelles G, Pardo Pastor J, Grande Moreillo C
Br J Clin Pharmacol 2022 Aug;88(8):3891-3895. Epub 2022 Feb 21 doi: 10.1111/bcp.15270. PMID: 35146800
Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V
Orphanet J Rare Dis 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. PMID: 33639990Free PMC Article
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article

Prognosis

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551

Clinical prediction guides

Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR
Eur J Med Genet 2022 Oct;65(10):104590. Epub 2022 Aug 11 doi: 10.1016/j.ejmg.2022.104590. PMID: 35964931
Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V
Orphanet J Rare Dis 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. PMID: 33639990Free PMC Article
Boccara O, Galmiche-Rolland L, Dadone-Montaudié B, Ariche-Maman S, Coulet F, Eyries M, Pannier S, Soupre V, Molina T, Pedeutour F, Fraitag S
Histopathology 2020 Mar;76(4):540-549. Epub 2020 Jan 24 doi: 10.1111/his.14021. PMID: 31630434

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