% 605582

CARDIOMYOPATHY, DILATED, 1K; CMD1K


Cytogenetic location: 6q12-q16     Genomic coordinates (GRCh38): 6:62,700,001-105,000,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
6q12-q16 Cardiomyopathy, dilated, 1K 605582 2
Phenotypic Series
 

Dilated cardiomyopathy - PS115200 - 60 Entries
Location Phenotype Inheritance Phenotype
mapping key
Phenotype
MIM number
Gene/Locus Gene/Locus
MIM number
1p36.32 Cardiomyopathy, dilated, 1LL AD 3 615373 PRDM16 605557
1p36.32 Left ventricular noncompaction 8 AD 3 615373 PRDM16 605557
1p34.2 Cardiomyopathy, dilated, 2C AR 3 618189 PPCS 609853
1p31.1 Cardiomyopathy, dilated, 1CC AD 3 613122 NEXN 613121
1q22 Cardiomyopathy, dilated, 1A AD 3 115200 LMNA 150330
1q32.1 Left ventricular noncompaction 6 AD 3 601494 TNNT2 191045
1q32.1 Cardiomyopathy, dilated, 1D AD 3 601494 TNNT2 191045
1q42.13 Cardiomyopathy, dilated, 1V AD 3 613697 PSEN2 600759
1q43 Cardiomyopathy, dilated, 1AA, with or without LVNC AD 3 612158 ACTN2 102573
1q43 Cardiomyopathy, hypertrophic, 23, with or without LVNC AD 3 612158 ACTN2 102573
2q14-q22 Cardiomyopathy, dilated, 1H 2 604288 CMD1H 604288
2q31.2 Cardiomyopathy, dilated, 1G AD 3 604145 TTN 188840
2q35 Cardiomyopathy, dilated, 1I AD 3 604765 DES 125660
3p25.2 Cardiomyopathy, dilated, 1NN AD 3 615916 RAF1 164760
3p22.2 Cardiomyopathy, dilated, 1E AD 3 601154 SCN5A 600163
3p21.1 Cardiomyopathy, dilated, 1Z AD 3 611879 TNNC1 191040
5p15.33 Cardiomyopathy, dilated, 1GG AR 3 613642 SDHA 600857
5q33.2-q33.3 Cardiomyopathy, dilated, 1L 3 606685 SGCD 601411
6p22.3 Cardiomyopathy, dilated, 2I AR 3 620462 CAP2 618385
6q12-q16 Cardiomyopathy, dilated, 1K 2 605582 CMD1K 605582
6q21 Cardiomyopathy, dilated, 1JJ AD 3 615235 LAMA4 600133
6q22.31 Cardiomyopathy, dilated, 1P 3 609909 PLN 172405
6q23.2 ?Cardiomyopathy, dilated, 1J AD 3 605362 EYA4 603550
7q21.2 ?Cardiomyopathy, dilated, 2B AR 3 614672 GATAD1 614518
7q22.3-q31.1 Cardiomyopathy, dilated, 1Q 2 609915 CMD1Q 609915
7q31.32 Cardiomyopathy, dilated, 2G AR 3 619897 LMOD2 608006
9q13 Cardiomyopathy, dilated 1B AD 2 600884 CMD1B 600884
9q31.2 Cardiomyopathy, dilated, 1X AR 3 611615 FKTN 607440
10q21.3 Cardiomyopathy, dilated, 1KK AD 3 615248 MYPN 608517
10q21.3 Cardiomyopathy, familial restrictive, 4 AD 3 615248 MYPN 608517
10q21.3 Cardiomyopathy, hypertrophic, 22 AD 3 615248 MYPN 608517
10q22.2 Cardiomyopathy, dilated, 1W 3 611407 VCL 193065
10q23.2 Cardiomyopathy, dilated, 1C, with or without LVNC AD 3 601493 LDB3 605906
10q23.2 Cardiomyopathy, hypertrophic, 24 AD 3 601493 LDB3 605906
10q23.2 Left ventricular noncompaction 3 AD 3 601493 LDB3 605906
10q25.2 Cardiomyopathy, dilated, 1DD AD 3 613172 RBM20 613171
10q26.11 Cardiomyopathy, dilated, 1HH AD 3 613881 BAG3 603883
11p15.1 ?Cardiomyopathy, dilated, 1M 3 607482 CSRP3 600824
11p11.2 Left ventricular noncompaction 10 AD 3 615396 MYBPC3 600958
11p11.2 Cardiomyopathy, dilated, 1MM AD 3 615396 MYBPC3 600958
11q23.1 Cardiomyopathy, dilated, 1II AD 3 615184 CRYAB 123590
12p12.1 Cardiomyopathy, dilated, 1O AD 3 608569 ABCC9 601439
14q11.2 Cardiomyopathy, dilated, 1EE AD 3 613252 MYH6 160710
14q11.2 Cardiomyopathy, dilated, 1S AD 3 613426 MYH7 160760
14q11.2 Left ventricular noncompaction 5 AD 3 613426 MYH7 160760
14q24.2 Cardiomyopathy, dilated, 1U AD 3 613694 PSEN1 104311
14q32.33 Cardiomyopathy, dilated, 2F AR 3 619747 BAG5 603885
15q14 Cardiomyopathy, dilated, 1R AD 3 613424 ACTC1 102540
15q14 Left ventricular noncompaction 4 AD 3 613424 ACTC1 102540
15q22.2 Left ventricular noncompaction 9 AD 3 611878 TPM1 191010
15q22.2 Cardiomyopathy, dilated, 1Y AD 3 611878 TPM1 191010
16p13.3 Cardiomyopathy, dilated, 2D AR 3 619371 RPL3L 617416
17p11.2 Cardiomyopathy, dilated, 2J AR 3 620635 FLII 600362
17q22 ?Cardiomyopathy, dilated, 1OO AD 3 620247 VEZF1 606747
18q12.1 Cardiomyopathy, dilated, 1BB AR 3 612877 DSG2 125671
19p13.13 ?Cardiomyopathy, dilated, 2H AR 3 620203 GET3 601913
19q13.42 ?Cardiomyopathy, dilated, 2A AR 3 611880 TNNI3 191044
19q13.42 Cardiomyopathy, dilated, 1FF 3 613286 TNNI3 191044
20q13.12 Cardiomyopathy, dilated, 2E AR 3 619492 JPH2 605267
Xp21.2-p21.1 Cardiomyopathy, dilated, 3B XL 3 302045 DMD 300377

TEXT

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).


REFERENCES

  1. Sylvius, N., Tesson, F., Gayet, C., Charron, P., Benaiche, A., Mangin, L., Peuchmaurd, M., Duboscq-Bidot, L., Feingold, J., Beckmann, J. S., Bouchier, C., Komajda, M. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001. [PubMed: 11085912, images, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 1/25/2001
carol : 04/24/2012
alopez : 3/19/2004
mgross : 1/25/2001

% 605582

CARDIOMYOPATHY, DILATED, 1K; CMD1K


ORPHA: 154;   DO: 0110437;  


Cytogenetic location: 6q12-q16     Genomic coordinates (GRCh38): 6:62,700,001-105,000,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
6q12-q16 Cardiomyopathy, dilated, 1K 605582 2

TEXT

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).


REFERENCES

  1. Sylvius, N., Tesson, F., Gayet, C., Charron, P., Benaiche, A., Mangin, L., Peuchmaurd, M., Duboscq-Bidot, L., Feingold, J., Beckmann, J. S., Bouchier, C., Komajda, M. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001. [PubMed: 11085912] [Full Text: https://doi.org/10.1086/316929]


Creation Date:
Victor A. McKusick : 1/25/2001

Edit History:
carol : 04/24/2012
alopez : 3/19/2004
mgross : 1/25/2001