KEGG   DISEASE: 拡張型心筋症
エントリ  
H00294                                                             
名称    
拡張型心筋症
  下位グループ
左室緻密化障害 [DS:H01216]
拡張型心筋症および高ゴナドトロピン性性腺機能低下 (DCM-HH)
  上位グループ
ジストロフィン異常症 [DS:H00562]
概要    
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.
カテゴリ  
循環器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  心筋または心室の疾患
   BC43  心筋症
    H00294  拡張型心筋症
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06528  カルシウムシグナリング
   H00294  拡張型心筋症
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H00294  拡張型心筋症
  nt06545  コーニファイドエンベロープ形成
   H00294  拡張型心筋症
指定難病 [jp08407.html]
 H00294
疾患パスウェイ
hsa05414  拡張型心筋症
パスウェイ 
hsa04020  Calcium signaling pathway
hsa04820  Cytoskeleton in muscle cells
ネットワーク
nt06528 Calcium signaling
nt06539 Cytoskeleton in muscle cells
nt06545 Cornified envelope formation
病因遺伝子 
(CMD1A/DCM-HH) LMNA [HSA:4000] [KO:K12641]
(CMD1C/CMD2L) LDB3 [HSA:11155] [KO:K19867]
(CMD1D) TNNT2 [HSA:7139] [KO:K12045]
(CMD1E) SCN5A [HSA:6331] [KO:K04838]
(CMD1G) TTN [HSA:7273] [KO:K12567]
(CMD1I) DES [HSA:1674] [KO:K07610]
(CMD1J) EYA4 [HSA:2070] [KO:K17622]
(CMD1L) SGCD [HSA:6444] [KO:K12563]
(CMD1M) CSRP3 [HSA:8048] [KO:K09377]
(CMD1N) TCAP [HSA:8557] [KO:K19879]
(CMD1O) ABCC9 [HSA:10060] [KO:K05033]
(CMD1P) PLN [HSA:5350] [KO:K05852]
(CMD1R) ACTC1 [HSA:70] [KO:K12314]
(CMD1S) MYH7 [HSA:4625] [KO:K17751]
(CMD1U) PSEN1 [HSA:5663] [KO:K04505]
(CMD1V) PSEN2 [HSA:5664] [KO:K04522]
(CMD1W) VCL [HSA:7414] [KO:K05700]
(CMD1X) FKTN [HSA:2218] [KO:K19872]
(CMD1Y) TPM1 [HSA:7168] [KO:K10373]
(CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
(CMD1AA) ACTN2 [HSA:88] [KO:K21073]
(CMD1BB) DSG2 [HSA:1829] [KO:K07597]
(CMD1CC) NEXN [HSA:91624] [KO:K23918]
(CMD1DD) RBM20 [HSA:282996] [KO:K24052]
(CMD1EE) MYH6 [HSA:4624] [KO:K17751]
(CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD1GG) SDHA [HSA:6389] [KO:K00234]
(CMD1HH) BAG3 [HSA:9531] [KO:K09557]
(CMD1II) CRYAB [HSA:1410] [KO:K09542]
(CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
(CMD1KK) MYPN [HSA:84665] [KO:K22028]
(CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
(CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
(CMD1NN) RAF1 [HSA:5894] [KO:K04366]
(CMD1OO) VEZF1 [HSA:7716] [KO:K26610]
(CMD1QQ) C10orf71 [HSA:118461]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(CMD2F) BAG5 [HSA:9529] [KO:K09559]
(CMD2G) LMOD2 [HSA:442721] [KO:K22030]
(CMD2H) GET3 [HSA:439] [KO:K01551]
(CMD2I) CAP2 [HSA:10486] [KO:K17261]
(CMD2J) FLII [HSA:2314] [KO:K27496]
(CMD2K) MYZAP [HSA:100820829] [KO:K22031]
(CMD3B) DMD [HSA:1756] [KO:K10366]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DPA1 [HSA:3113] [KO:K06752]
HLA-DPB1 [HSA:3115] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
治療薬   
ビソプロロールフマル酸塩 [DR:D00634]
カルベジロール [DR:D00255]
リンク   
ICD-11: BC43.0
MeSH: D002311
OMIM: 115200 212112 601493 601494 601154 604145 604765 605362 606685 607482 607487 608569 609909 613424 613426 613694 613697 611407 611615 611878 611879 612158 612877 613122 613172 613252 613286 613642 613881 615184 615235 615248 615373 615396 615916 620247 621251 611880 614672 618189 619371 619492 619747 619897 620203 620462 620635 620894 621237 302045
文献    
  著者
Fatkin D, Graham RM
  タイトル
Molecular mechanisms of inherited cardiomyopathies.
  雑誌
Physiol Rev 82:945-80 (2002)
DOI:10.1152/physrev.00012.2002
文献    
  著者
Moolman-Smook JC, Mayosi BM, Brink PA, Corfield VA
  タイトル
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
  雑誌
Cardiovasc J S Afr 14:145-55 (2003)
文献    
  著者
Hershberger RE, Morales A, Siegfried JD
  タイトル
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.
  雑誌
Genet Med 12:655-67 (2010)
DOI:10.1097/GIM.0b013e3181f2481f
文献    
PMID:10580070 (CMD1A)
  著者
Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B
  タイトル
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
  雑誌
N Engl J Med 341:1715-24 (1999)
DOI:10.1056/NEJM199912023412302
文献    
PMID:19283854 (DCM-HH)
  著者
McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF
  タイトル
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
  雑誌
Am J Med Genet A 149A:567-72 (2009)
DOI:10.1002/ajmg.a.32627
文献    
PMID:14662268 (CMD1C)
  著者
Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA
  タイトル
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
  雑誌
J Am Coll Cardiol 42:2014-27 (2003)
DOI:10.1016/j.jacc.2003.10.021
文献    
PMID:11106718 (CMD1D CMD1S)
  著者
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE
  タイトル
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
  雑誌
N Engl J Med 343:1688-96 (2000)
DOI:10.1056/NEJM200012073432304
文献    
PMID:15466643 (CMD1E)
  著者
McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L
  タイトル
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
  雑誌
Circulation 110:2163-7 (2004)
DOI:10.1161/01.CIR.0000144458.58660.BB
文献    
PMID:11788824 (CMD1G)
  著者
Gerull B, Gramlich M, Atherton J, McNabb M, Trombitas K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L
  タイトル
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
  雑誌
Nat Genet 30:201-4 (2002)
DOI:10.1038/ng815
文献    
PMID:10430757 (CMD1I)
  著者
Li D, Tapscoft T, Gonzalez O, Burch PE, Quinones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R
  タイトル
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
  雑誌
Circulation 100:461-4 (1999)
DOI:10.1161/01.cir.100.5.461
文献    
PMID:15735644 (CMD1J)
  著者
Schonberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE
  タイトル
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.
  雑誌
Nat Genet 37:418-22 (2005)
DOI:10.1038/ng1527
文献    
PMID:10974018 (CMD1L)
  著者
Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA
  タイトル
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
  雑誌
J Clin Invest 106:655-62 (2000)
DOI:10.1172/JCI9224
文献    
PMID:14567970 (CMD1M CMD1AA)
  著者
Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE
  タイトル
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
  雑誌
Mol Genet Metab 80:207-15 (2003)
DOI:10.1016/s1096-7192(03)00142-2
文献    
PMID:15582318 (CMD1N)
  著者
Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knoll R, Hoshijima M, Chien KR, Kimura A
  タイトル
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
  雑誌
J Am Coll Cardiol 44:2192-201 (2004)
DOI:10.1016/j.jacc.2004.08.058
文献    
PMID:15034580 (CMD1O)
  著者
Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A
  タイトル
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
  雑誌
Nat Genet 36:382-7 (2004)
DOI:10.1038/ng1329
文献    
PMID:12610310 (CMD1P)
  著者
Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE
  タイトル
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
  雑誌
Science 299:1410-3 (2003)
DOI:10.1126/science.1081578
文献    
PMID:9563954 (CMD1R)
  著者
Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT
  タイトル
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
  雑誌
Science 280:750-2 (1998)
DOI:10.1126/science.280.5364.750
文献    
PMID:17186461 (CMD1U CMD1V)
  著者
Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE
  タイトル
Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
  雑誌
Am J Hum Genet 79:1030-9 (2006)
DOI:10.1086/509900
文献    
PMID:11815424 (CMD1W)
  著者
Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM
  タイトル
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
  雑誌
Circulation 105:431-7 (2002)
DOI:10.1161/hc0402.102930
文献    
PMID:17036286 (CMD1X)
  著者
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I
  タイトル
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
  雑誌
Ann Neurol 60:597-602 (2006)
DOI:10.1002/ana.20973
文献    
PMID:11273725 (CMD1Y)
  著者
Olson TM, Kishimoto NY, Whitby FG, Michels VV
  タイトル
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
  雑誌
J Mol Cell Cardiol 33:723-32 (2001)
DOI:10.1006/jmcc.2000.1339
文献    
PMID:15542288 (CMD1Z)
  著者
Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ
  タイトル
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
  雑誌
J Am Coll Cardiol 44:2033-40 (2004)
DOI:10.1016/j.jacc.2004.08.027
文献    
PMID:18678517 (CMD1BB)
  著者
Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C
  タイトル
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
  雑誌
Mol Genet Metab 95:74-80 (2008)
DOI:10.1016/j.ymgme.2008.06.005
文献    
PMID:19881492 (CMD1CC)
  著者
Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nurnberg P, Schunkert H, Katus HA, Rottbauer W
  タイトル
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
  雑誌
Nat Med 15:1281-8 (2009)
DOI:10.1038/nm.2037
文献    
PMID:19712804 (CMD1DD)
  著者
Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM
  タイトル
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
  雑誌
J Am Coll Cardiol 54:930-41 (2009)
DOI:10.1016/j.jacc.2009.05.038
文献    
PMID:15998695 (CMD1EE)
  著者
Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L
  タイトル
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.
  雑誌
Circulation 112:54-9 (2005)
DOI:10.1161/CIRCULATIONAHA.104.507699
文献    
PMID:19590045 (CMD1FF)
  著者
Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H
  タイトル
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
  雑誌
Circ Res 105:375-82 (2009)
DOI:10.1161/CIRCRESAHA.109.196055
文献    
PMID:20551992 (CMD1GG)
  著者
Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R
  タイトル
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
  雑誌
Eur J Hum Genet 18:1160-5 (2010)
DOI:10.1038/ejhg.2010.83
文献    
PMID:21353195 (CMD1HH)
  著者
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Zuchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE
  タイトル
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
  雑誌
Am J Hum Genet 88:273-82 (2011)
DOI:10.1016/j.ajhg.2011.01.016
文献    
PMID:16483541 (CMD1II)
  著者
Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A
  タイトル
Alpha B-crystallin mutation in dilated cardiomyopathy.
  雑誌
Biochem Biophys Res Commun 342:379-86 (2006)
DOI:10.1016/j.bbrc.2006.01.154
文献    
PMID:17646580 (CMD1JJ)
  著者
Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss HP, Schaper W, Schaper J, Bos E, Den Hertog J, van Eeden FJ, Peters PJ, Hasenfuss G, Chien KR, Bakkers J
  タイトル
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
  雑誌
Circulation 116:515-25 (2007)
DOI:10.1161/CIRCULATIONAHA.107.689984
文献    
PMID:22892539 (CMD1KK)
  著者
Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR, Posch MG, Maisch B, Pankuweit S
  タイトル
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
  雑誌
Eur J Hum Genet 21:294-300 (2013)
DOI:10.1038/ejhg.2012.173
文献    
PMID:23768516 (CMD1LL)
  著者
Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S
  タイトル
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
  雑誌
Am J Hum Genet 93:67-77 (2013)
DOI:10.1016/j.ajhg.2013.05.015
文献    
PMID:12379228 (CMD1MM)
  著者
Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V
  タイトル
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
  雑誌
Biochem Biophys Res Commun 298:116-20 (2002)
DOI:10.1016/s0006-291x(02)02374-4
文献    
PMID:24777450 (CMD1NN)
  著者
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD
  タイトル
RAF1 mutations in childhood-onset dilated cardiomyopathy.
  雑誌
Nat Genet 46:635-639 (2014)
DOI:10.1038/ng.2963
文献    
PMID:36657711 (CMD1OO)
  著者
Shi HY, Xie MS, Guo YH, Yang CX, Gu JN, Qiao Q, Di RM, Qiu XB, Xu YJ, Yang YQ
  タイトル
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.
  雑誌
Eur J Med Genet 66:104705 (2023)
DOI:10.1016/j.ejmg.2023.104705
文献    
PMID:38950288 (CMD1QQ)
  著者
Li Y, Ma K, Dong Z, Gao S, Zhang J, Huang S, Yang J, Fang G, Li Y, Li X, Welch C, Griffin EL, Ramaswamy P, Valivullah Z, Liu X, Dong J, Wang DW, Du J, Chung WK, Li Y
  タイトル
Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.
  雑誌
J Clin Invest 134:177172 (2024)
DOI:10.1172/JCI177172
文献    
PMID:15070570 (CMD2A)
  著者
Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ
  タイトル
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
  雑誌
Lancet 363:371-2 (2004)
DOI:10.1016/S0140-6736(04)15468-8
文献    
PMID:21965549 (CMD2B)
  著者
Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM
  タイトル
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
  雑誌
Circ Cardiovasc Genet 4:585-94 (2011)
DOI:10.1161/CIRCGENETICS.111.961052
文献    
PMID:29754768 (CMD2C)
  著者
Iuso A, Wiersma M, Schuller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y
  タイトル
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
  雑誌
Am J Hum Genet 102:1018-1030 (2018)
DOI:10.1016/j.ajhg.2018.03.022
文献    
PMID:32514796 (CMD2D)
  著者
Ganapathi M, Argyriou L, Martinez-Azorin F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorli-Garcia M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B
  タイトル
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
  雑誌
Hum Genet 139:1443-1454 (2020)
DOI:10.1007/s00439-020-02188-6
文献    
PMID:31227780 (CMD2E)
  著者
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP
  タイトル
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
  雑誌
Sci Rep 9:9038 (2019)
DOI:10.1038/s41598-019-44987-6
文献    
PMID:35044787 (CMD2F)
  著者
Hakui H, Kioka H, Miyashita Y, Nishimura S, Matsuoka K, Kato H, Tsukamoto O, Kuramoto Y, Takuwa A, Takahashi Y, Saito S, Ohta K, Asanuma H, Fu HY, Shinomiya H, Yamada N, Ohtani T, Sawa Y, Kitakaze M, Takashima S, Sakata Y, Asano Y
  タイトル
Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.
  雑誌
Sci Transl Med 14:eabf3274 (2022)
DOI:10.1126/scitranslmed.abf3274
文献    
PMID:31517052 (CMD2G)
  著者
Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC
  タイトル
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
  雑誌
Sci Adv 5:eaax2066 (2019)
DOI:10.1126/sciadv.aax2066
文献    
PMID:31461301 (CMD2H)
  著者
Verhagen JMA, van den Born M, van der Linde HC, G J Nikkels P, Verdijk RM, Kivlen MH, van Unen LMA, Baas AF, Ter Heide H, van Osch-Gevers L, Hoogeveen-Westerveld M, Herkert JC, Bertoli-Avella AM, van Slegtenhorst MA, Wessels MW, Verheijen FW, Hassel D, Hofstra RMW, Hegde RS, van Hasselt PM, van Ham TJ, van de Laar IMBH
  タイトル
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
  雑誌
Circ Genom Precis Med 12:397-406 (2019)
DOI:10.1161/CIRCGEN.119.002507
文献    
PMID:30518548 (CMD2I)
  著者
Aspit L, Levitas A, Etzion S, Krymko H, Slanovic L, Zarivach R, Etzion Y, Parvari R
  タイトル
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
  雑誌
J Med Genet 56:228-235 (2019)
DOI:10.1136/jmedgenet-2018-105498
文献    
PMID:37561591 (CMD2J)
  著者
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S
  タイトル
Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
  雑誌
JCI Insight 8:168247 (2023)
DOI:10.1172/jci.insight.168247
文献    
PMID:34899865 (CMD2K)
  著者
Helio K, Mayranpaa MI, Saarinen I, Ahonen S, Junnila H, Tommiska J, Weckstrom S, Holmstrom M, Toivonen M, Nikus K, Hathaway J, Siivonen P, Muona M, Sistonen J, Salmenpera P, Gentile M, Paananen J, Myllykangas S, Alastalo TP, Helio T, Koskenvuo J
  タイトル
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
  雑誌
Front Genet 12:786705 (2021)
DOI:10.3389/fgene.2021.786705
文献    
PMID:36253531 (CMD2L)
  著者
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R
  タイトル
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
  雑誌
Eur J Hum Genet 31:97-104 (2023)
DOI:10.1038/s41431-022-01204-9
文献    
PMID:8361506 (CMD3B)
  著者
Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, et al.
  タイトル
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.
  雑誌
N Engl J Med 329:921-5 (1993)
DOI:10.1056/NEJM199309233291304
文献    
PMID:10425186 (HLA-DRB1)
  著者
Hiroi S, Harada H, Nishi H, Satoh M, Nagai R, Kimura A
  タイトル
Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese.
  雑誌
Biochem Biophys Res Commun 261:332-9 (1999)
DOI:10.1006/bbrc.1999.1036
LinkDB    

» English version

DBGET integrated database retrieval system