H00294 | |
H number | H00294 |
Name | Dilated cardiomyopathy |
Description | 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. |
Category | Cardiovascular disease DIS_PATHWAY hsa05414 Dilated cardiomyopathy |
Network | nt06528(H00294) Calcium signaling |
Gene | (CMD1A) LMNA [HSA:4000] [KO:K12641] (CMD1C) 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] (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] (CMD3B) DMD [HSA:1756] [KO:K10366] (BTHS) TAZ [HSA:6901] [KO:K13511] 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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: BC43.0 ICD-10: I42 OMIM: 115200 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 611880 614672 618189 619371 619492 619747 619897 620203 620462 302045 302060 |
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JOURNAL Am J Hum Genet 79:1030-9 (2006) DOI:10.1086/509900 PMID:11815424 (CMD1W) AUTHORS Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM TITLE Metavinculin mutations alter actin interaction in dilated cardiomyopathy. JOURNAL Circulation 105:431-7 (2002) DOI:10.1161/hc0402.102930 PMID:17036286 (CMD1X) AUTHORS 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 TITLE Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. JOURNAL Ann Neurol 60:597-602 (2006) DOI:10.1002/ana.20973 PMID:11273725 (CMD1Y) AUTHORS Olson TM, Kishimoto NY, Whitby FG, Michels VV TITLE Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. JOURNAL J Mol Cell Cardiol 33:723-32 (2001) DOI:10.1006/jmcc.2000.1339 PMID:15542288 (CMD1Z) AUTHORS Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ TITLE Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. JOURNAL J Am Coll Cardiol 44:2033-40 (2004) DOI:10.1016/j.jacc.2004.08.027 PMID:18678517 (CMD1BB) AUTHORS 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 TITLE A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. JOURNAL Mol Genet Metab 95:74-80 (2008) DOI:10.1016/j.ymgme.2008.06.005 PMID:19881492 (CMD1CC) AUTHORS 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 TITLE Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. JOURNAL Nat Med 15:1281-8 (2009) DOI:10.1038/nm.2037 PMID:19712804 (CMD1DD) AUTHORS Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM TITLE Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 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JOURNAL Eur J Hum Genet 21:294-300 (2013) DOI:10.1038/ejhg.2012.173 PMID:23768516 (CMD1LL) AUTHORS 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 TITLE Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. JOURNAL Am J Hum Genet 93:67-77 (2013) DOI:10.1016/j.ajhg.2013.05.015 PMID:12379228 (CMD1MM) AUTHORS Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V TITLE Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. JOURNAL Biochem Biophys Res Commun 298:116-20 (2002) DOI:10.1016/s0006-291x(02)02374-4 PMID:24777450 (CMD1NN) AUTHORS 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 TITLE RAF1 mutations in childhood-onset dilated cardiomyopathy. JOURNAL Nat Genet 46:635-639 (2014) DOI:10.1038/ng.2963 PMID:36657711 (CMD1OO) AUTHORS Shi HY, Xie MS, Guo YH, Yang CX, Gu JN, Qiao Q, Di RM, Qiu XB, Xu YJ, Yang YQ TITLE VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy. JOURNAL Eur J Med Genet 66:104705 (2023) DOI:10.1016/j.ejmg.2023.104705 PMID:15070570 (CMD2A) AUTHORS Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ TITLE Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. JOURNAL Lancet 363:371-2 (2004) DOI:10.1016/S0140-6736(04)15468-8 PMID:21965549 (CMD2B) AUTHORS Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM TITLE Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. JOURNAL Circ Cardiovasc Genet 4:585-94 (2011) DOI:10.1161/CIRCGENETICS.111.961052 PMID:29754768 (CMD2C) AUTHORS 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 TITLE Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. JOURNAL Am J Hum Genet 102:1018-1030 (2018) DOI:10.1016/j.ajhg.2018.03.022 PMID:32514796 (CMD2D) AUTHORS 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 TITLE Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. JOURNAL Hum Genet 139:1443-1454 (2020) DOI:10.1007/s00439-020-02188-6 PMID:31227780 (CMD2E) AUTHORS Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP TITLE 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. JOURNAL Sci Rep 9:9038 (2019) DOI:10.1038/s41598-019-44987-6 PMID:35044787 (CMD2F) AUTHORS 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 TITLE Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation. JOURNAL Sci Transl Med 14:eabf3274 (2022) DOI:10.1126/scitranslmed.abf3274 PMID:31517052 (CMD2G) AUTHORS 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 TITLE Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. JOURNAL Sci Adv 5:eaax2066 (2019) DOI:10.1126/sciadv.aax2066 PMID:31461301 (CMD2H) AUTHORS 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 TITLE Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy. JOURNAL Circ Genom Precis Med 12:397-406 (2019) DOI:10.1161/CIRCGEN.119.002507 PMID:30518548 (CMD2I) AUTHORS Aspit L, Levitas A, Etzion S, Krymko H, Slanovic L, Zarivach R, Etzion Y, Parvari R TITLE CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. JOURNAL J Med Genet 56:228-235 (2019) DOI:10.1136/jmedgenet-2018-105498 PMID:8361506 (CMD3B) AUTHORS Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, et al. TITLE Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. JOURNAL N Engl J Med 329:921-5 (1993) DOI:10.1056/NEJM199309233291304 PMID:8630491 (BTHS) AUTHORS Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D TITLE A novel X-linked gene, G4.5. is responsible for Barth syndrome. JOURNAL Nat Genet 12:385-9 (1996) DOI:10.1038/ng0496-385 PMID:10425186 (HLA-DRB1) AUTHORS Hiroi S, Harada H, Nishi H, Satoh M, Nagai R, Kimura A TITLE Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese. JOURNAL Biochem Biophys Res Commun 261:332-9 (1999) DOI:10.1006/bbrc.1999.1036 |