Cardiomyopathy, Dilated, 1k

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

TTN, RBM20, TNNT2, SCN5A, BAG3, MYH7, MYBPC3, MYH6, DMD, PLN, DES, SGCD, TPM1, TMPO, ACTC1, PSEN1, RAF1, VCL, CSRP3, TCAP, SDHA, TAZ, TAF1A, PSEN2, TNNI3, TNNC1, FKTN, ACTN2, NEXN, MYPN

TTN, RBM20, TNNT2, SCN5A, BAG3, MYH7, MYBPC3, MYH6, DMD, PLN, DES, SGCD, TPM1, TMPO, ACTC1, PSEN1, RAF1, VCL, CSRP3, TCAP, SDHA, TAZ, TAF1A, PSEN2, TNNI3, TNNC1, FKTN, ACTN2, NEXN, MYPN, PPCS, CRYAB, PRDM16, DSG2, FHL2, ABCC9, GATAD1, ANKRD1, DOLK, LDB3, TXNRD2, NEBL, CAP2, LAMA4, LMNA, TTN-AS1, ACTB, CMD1B, LAG3, CHRM2, GATA4, TRIT1, CASZ1, ERBIN, FLNC, NKX2-5, REN, CALD1, MYLK3, MYL12B, GATA5, APP, LAMA1, LINC01672, MYEF2, GATA6, CNTN3, MEF2A, MYOG, MYLK, MYL2, MEOX1, PDLIM7, HAND2, SRA1, GJA1, PPIF, BCAP31, KCNJ12, HSP90AA1, HSPA1B, MYL12A, SOX9

Drugs

Tissue Repair Cells Obtained From Autologous Bone Marrow Expanded Ex Vivo With A Cell Production System, p38 mitogen-activated kinase inhibitor (p38 MAPK)

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For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).

Mapping

Sylvius et al. (2001) reported the results of a linkage analysis of a French family in which 9 individuals in 3 successive generations expressed the pure form of dilated cardiomyopathy. They identified a novel locus, CMD1K, on 6q12-q16 using a genomewide search after exclusion of all other disease loci and genes for dilated cardiomyopathy. The maximum pairwise lod score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. The CMD1K locus did not overlap with 2 other disease loci mapped to 6q, CMD1J (605362) on 6q23-q24, and MFM1 (formerly CMD1F; 601419) on 6q23. Using SSCP and linkage analysis, Sylvius et al. (2001) excluded 3 candidate genes located near the CMD1K locus: phospholamban (PLN; 172405), malic enzyme-1 (ME1; 154250), and laminin alpha-4 (LAMA4; 600133).