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Laminopathy

MedGen UID:
1716073
Concept ID:
C5392094
Disease or Syndrome
Synonym: Laminopathies
 
Monarch Initiative: MONDO:0021106
Orphanet: ORPHA98301

Definition

A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Laminopathy

Professional guidelines

PubMed

Bolano-Diaz C, Verdú-Díaz J, Gonzalez-Chamorro A, Fitzsimmons S, Veeranki G, Straub V, Diaz-Manera J
Neuromuscul Disord 2024 Jan;34:54-60. Epub 2023 Nov 10 doi: 10.1016/j.nmd.2023.11.004. PMID: 38007344
Chen SN, Sbaizero O, Taylor MRG, Mestroni L
Curr Cardiol Rep 2019 Nov 26;21(12):160. doi: 10.1007/s11886-019-1224-7. PMID: 31773301
Piekarowicz K, Machowska M, Dzianisava V, Rzepecki R
Cells 2019 Jan 25;8(2) doi: 10.3390/cells8020088. PMID: 30691039Free PMC Article

Recent clinical studies

Etiology

Pande S, Ghosh DK
FASEB J 2023 Aug;37(8):e23116. doi: 10.1096/fj.202300878R. PMID: 37498235
Chen SN, Sbaizero O, Taylor MRG, Mestroni L
Curr Cardiol Rep 2019 Nov 26;21(12):160. doi: 10.1007/s11886-019-1224-7. PMID: 31773301
Finsterer J, Stöllberger C, Maeztu C
Int J Cardiol 2016 Jan 15;203:508-15. Epub 2015 Oct 28 doi: 10.1016/j.ijcard.2015.10.176. PMID: 26551884
Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL
Ann Endocrinol (Paris) 2012 Jun;73(3):170-89. Epub 2012 Jun 28 doi: 10.1016/j.ando.2012.04.010. PMID: 22748602
Finsterer J, Stöllberger C, Blazek G
Int J Cardiol 2006 Jun 28;110(3):288-300. Epub 2005 Dec 20 doi: 10.1016/j.ijcard.2005.10.028. PMID: 16364474

Diagnosis

Donnaloja F, Carnevali F, Jacchetti E, Raimondi MT
Cells 2020 May 24;9(5) doi: 10.3390/cells9051306. PMID: 32456328Free PMC Article
Heller SA, Shih R, Kalra R, Kang PB
Muscle Nerve 2020 Apr;61(4):436-448. Epub 2019 Dec 28 doi: 10.1002/mus.26782. PMID: 31840275Free PMC Article
Madej-Pilarczyk A, Kochański A
Folia Neuropathol 2016;54(1):1-8. doi: 10.5114/fn.2016.58910. PMID: 27179216
Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimarães H
Eur J Pediatr 2009 Aug;168(8):1007-12. Epub 2008 Nov 20 doi: 10.1007/s00431-008-0868-x. PMID: 19020898
Finsterer J, Stöllberger C, Blazek G
Int J Cardiol 2006 Jun 28;110(3):288-300. Epub 2005 Dec 20 doi: 10.1016/j.ijcard.2005.10.028. PMID: 16364474

Therapy

Gordon CM, Cleveland RH, Baltrusaitis K, Massaro J, D'Agostino RB Sr, Liang MG, Snyder B, Walters M, Li X, Braddock DT, Kleinman ME, Kieran MW, Gordon LB
Bone 2019 Aug;125:103-111. Epub 2019 May 8 doi: 10.1016/j.bone.2019.05.008. PMID: 31077852Free PMC Article
GóMez-Andrés D, Díaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, GonzáLez-Mera L, Olivé M, Vilchez JJ, De Munain AL, Paradas C, Muelas N, SáNchez-MontáÑez Á, Alonso-Jimenez A, De la Banda MGG, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S
Muscle Nerve 2018 Dec;58(6):812-817. Epub 2018 Nov 18 doi: 10.1002/mus.26312. PMID: 30066418
Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL
Ann Endocrinol (Paris) 2012 Jun;73(3):170-89. Epub 2012 Jun 28 doi: 10.1016/j.ando.2012.04.010. PMID: 22748602
Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I
Neuromuscul Disord 2011 Aug;21(8):563-8. Epub 2011 May 31 doi: 10.1016/j.nmd.2011.04.010. PMID: 21632249
Hegele R
Clin Genet 2005 Jul;68(1):31-4. doi: 10.1111/j.1399-0004.2005.00447.x. PMID: 15952983

Prognosis

Hasper J, Welle K, Swovick K, Hryhorenko J, Ghaemmaghami S, Buchwalter A
J Cell Biol 2024 Jan 1;223(1) Epub 2023 Nov 15 doi: 10.1083/jcb.202307049. PMID: 37966721Free PMC Article
Brayson D, Shanahan CM
Nucleus 2017 Jan 2;8(1):17-33. doi: 10.1080/19491034.2016.1260798. PMID: 28125396Free PMC Article
McKenna T, Sola Carvajal A, Eriksson M
J Invest Dermatol 2015 Nov;135(11):2577-2583. Epub 2015 Jul 29 doi: 10.1038/jid.2015.295. PMID: 26290387
Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimarães H
Eur J Pediatr 2009 Aug;168(8):1007-12. Epub 2008 Nov 20 doi: 10.1007/s00431-008-0868-x. PMID: 19020898
Finsterer J, Stöllberger C, Blazek G
Int J Cardiol 2006 Jun 28;110(3):288-300. Epub 2005 Dec 20 doi: 10.1016/j.ijcard.2005.10.028. PMID: 16364474

Clinical prediction guides

Hasper J, Welle K, Swovick K, Hryhorenko J, Ghaemmaghami S, Buchwalter A
J Cell Biol 2024 Jan 1;223(1) Epub 2023 Nov 15 doi: 10.1083/jcb.202307049. PMID: 37966721Free PMC Article
DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS
Proc Natl Acad Sci U S A 2018 Apr 17;115(16):4206-4211. Epub 2018 Mar 26 doi: 10.1073/pnas.1802811115. PMID: 29581305Free PMC Article
Houthaeve G, Robijns J, Braeckmans K, De Vos WH
Physiology (Bethesda) 2018 Jan 1;33(1):39-49. doi: 10.1152/physiol.00029.2017. PMID: 29212891
Speeckaert MM, Verhelst C, Koch A, Speeckaert R, Lacquet F
Acta Haematol 2009;121(4):202-6. Epub 2009 May 26 doi: 10.1159/000220333. PMID: 19468205
Astejada MN, Goto K, Nagano A, Ura S, Noguchi S, Nonaka I, Nishino I, Hayashi YK
Acta Myol 2007 Dec;26(3):159-64. PMID: 18646565Free PMC Article

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