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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
Eldin AJ, Akinci B, da Rocha AM, Meral R, Simsir IY, Adiyaman SC, Ozpelit E, Bhave N, Gen R, Yurekli B, Ozdemir Kutbay N, Siklar Z, Neidert AH, Hench R, Tayeh MK, Innis JW, Jalife J, Oral H, Oral EA
Clin Endocrinol (Oxf) 2021 Jun;94(6):1043-1053. Epub 2021 Feb 22 doi: 10.1111/cen.14426. PMID: 33502018Free 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
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
Burke B, Stewart CL
Nat Rev Mol Cell Biol 2002 Aug;3(8):575-85. doi: 10.1038/nrm879. PMID: 12154369

Diagnosis

Ogawa N, Kondo H, Ishii Y, Mitarai K, Akiyoshi K, Niwa H, Kato K, Horie M, Ohno S, Takahashi N
Intern Med 2024 Sep 15;63(18):2533-2536. Epub 2024 Mar 4 doi: 10.2169/internalmedicine.1701-23. PMID: 38432972Free PMC Article
Pradeep I, Gowrishankar K, Shanmugasundaram L
Pediatr Dev Pathol 2022 May-Jun;25(3):327-329. Epub 2021 Dec 27 doi: 10.1177/10935266211065316. PMID: 34961372
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

Therapy

Gordon LB, Tuminelli K, Andrés V, Campisi J, Kieran MW, Doucette L, Gordon AS
Aging (Albany NY) 2021 Mar 17;13(6):9143-9151. doi: 10.18632/aging.202835. PMID: 33735109Free PMC Article
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

Prognosis

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
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
Quigley A, Dong YY, Pike AC, Dong L, Shrestha L, Berridge G, Stansfeld PJ, Sansom MS, Edwards AM, Bountra C, von Delft F, Bullock AN, Burgess-Brown NA, Carpenter EP
Science 2013 Mar 29;339(6127):1604-7. doi: 10.1126/science.1231513. PMID: 23539603
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

Shah PP, Santini GT, Shen KM, Jain R
Curr Cardiol Rep 2023 May;25(5):307-314. Epub 2023 Apr 13 doi: 10.1007/s11886-023-01853-2. PMID: 37052760Free PMC Article
Murofushi Y, Hayakawa I, Abe Y, Nakao H, Ono H, Kubota M
Brain Dev 2022 Oct;44(9):650-654. Epub 2022 Jun 18 doi: 10.1016/j.braindev.2022.05.006. PMID: 35729056
Bejaoui Y, Razzaq A, Yousri NA, Oshima J, Megarbane A, Qannan A, Potabattula R, Alam T, Martin GM, Horn HF, Haaf T, Horvath S, El Hajj N
Aging Cell 2022 Feb;21(2):e13555. Epub 2022 Jan 19 doi: 10.1111/acel.13555. PMID: 35045206Free 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

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