CMD1O
MCID: CRD105
MIFTS: 35

Cardiomyopathy, Dilated, 1o (CMD1O)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1o

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1o:

Name: Cardiomyopathy, Dilated, 1o 58 13 74
Dilated Cardiomyopathy 1o 12 30 6 15
Cmd1o 58 12 76
Dilated Cardiomyopathy with Ventricular Tachycardia 12 76
Cardiomyopathy, Dilated, with Ventricular Tachycardia 58
Cardiomyopathy, Dilated, Type 1o 41
Cardiomyopathy, Dilated 1o 76

Characteristics:

HPO:

33
cardiomyopathy, dilated, 1o:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110451
OMIM 58 608569
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1837839
UMLS 74 C1837839

Summaries for Cardiomyopathy, Dilated, 1o

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1O: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1o, also known as dilated cardiomyopathy 1o, is related to coronary artery vasospasm and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1o is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include heart and pancreas, and related phenotypes are dilated cardiomyopathy and impaired myocardial contractility

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the ABCC9 gene on chromosome 12p12.1.

Description from OMIM: 608569

Related Diseases for Cardiomyopathy, Dilated, 1o

Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1o via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 coronary artery vasospasm 10.1 ABCC9 KCNJ8
2 dilated cardiomyopathy 10.1
3 anomalous left coronary artery from the pulmonary artery 9.9 GJA1 KCNJ11
4 munchausen by proxy 9.8 ABCC8 KCNJ11
5 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.8 ABCC8 KCNJ11
6 acute insulin response 9.8 ABCC8 KCNJ11
7 maturity-onset diabetes of the young, type 1 9.8 ABCC8 KCNJ11
8 maturity-onset diabetes of the young, type 13 9.8 ABCC8 KCNJ11
9 usher syndrome, type ic 9.8 ABCC8 KCNJ11
10 endocrine pancreas disease 9.8 ABCC8 KCNJ11
11 pancreas disease 9.8 ABCC8 KCNJ11
12 pancreatic agenesis 9.8 ABCC8 KCNJ11
13 monogenic diabetes 9.8 ABCC8 KCNJ11
14 thiamine-responsive megaloblastic anemia syndrome 9.8 ABCC8 KCNJ11
15 diabetes mellitus, transient neonatal, 1 9.8 ABCC8 KCNJ11
16 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.8 ABCC8 KCNJ11
17 hyperinsulinemic hypoglycemia 9.7 ABCC8 KCNJ11
18 hypoglycemia 9.7 ABCC8 KCNJ11
19 diabetes mellitus, permanent neonatal 9.7 ABCC8 KCNJ11
20 glucose metabolism disease 9.7 ABCC8 KCNJ11
21 neonatal diabetes mellitus 9.7 ABCC8 KCNJ11
22 acquired metabolic disease 9.7 ABCC8 KCNJ11
23 hypertrichosis 9.6 ABCC9 KCNJ11 KCNJ8
24 hyperinsulinism 9.6 ABCC8 KCNJ11
25 hyperglycemia 9.6 ABCC8 KCNJ11
26 ischemia 9.5 GJA1 KCNJ11
27 cantu syndrome 9.3 ABCC8 ABCC9 KCNJ11 KCNJ8

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1o:



Diseases related to Cardiomyopathy, Dilated, 1o

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1o

Human phenotypes related to Cardiomyopathy, Dilated, 1o:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 very rare (1%) HP:0001644
2 impaired myocardial contractility 33 very rare (1%) HP:0006670
3 ventricular tachycardia 33 very rare (1%) HP:0004756

Clinical features from OMIM:

608569

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1o:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1o

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1o

Genetic Tests for Cardiomyopathy, Dilated, 1o

Genetic tests related to Cardiomyopathy, Dilated, 1o:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1o 30 ABCC9

Anatomical Context for Cardiomyopathy, Dilated, 1o

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1o:

42
Heart, Pancreas

Publications for Cardiomyopathy, Dilated, 1o

Articles related to Cardiomyopathy, Dilated, 1o:

# Title Authors Year
1
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. ( 15034580 )
2004
2
Heterogeneous loss of connexin43 protein in nonischemic dilated cardiomyopathy with ventricular tachycardia. ( 12380923 )
2002

Variations for Cardiomyopathy, Dilated, 1o

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1o:

76
# Symbol AA change Variation ID SNP ID
1 ABCC9 p.Ala1513Thr VAR_018483 rs72559751

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1o:

6 (show top 50) (show all 253)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 ABCC9, 3-BP DEL, 4-BP INS, EX38 indel Pathogenic
2 ABCC9 NM_020297.3(ABCC9): c.4537G> A (p.Ala1513Thr) single nucleotide variant Pathogenic rs121909304 GRCh37 Chromosome 12, 21954091: 21954091
3 ABCC9 NM_020297.3(ABCC9): c.4537G> A (p.Ala1513Thr) single nucleotide variant Pathogenic rs121909304 GRCh38 Chromosome 12, 21801157: 21801157
4 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh38 Chromosome 12, 21842327: 21842327
5 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh37 Chromosome 12, 21995260: 21995260
6 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh38 Chromosome 12, 21842326: 21842326
7 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh37 Chromosome 12, 21995261: 21995261
8 ABCC9 NM_005691.3(ABCC9): c.2200G> A (p.Val734Ile) single nucleotide variant Benign/Likely benign rs61688134 GRCh37 Chromosome 12, 22017410: 22017410
9 ABCC9 NM_005691.3(ABCC9): c.2200G> A (p.Val734Ile) single nucleotide variant Benign/Likely benign rs61688134 GRCh38 Chromosome 12, 21864476: 21864476
10 ABCC9 NM_005691.3(ABCC9): c.2523C> T (p.Ala841=) single nucleotide variant Benign rs144537241 GRCh37 Chromosome 12, 22005422: 22005422
11 ABCC9 NM_005691.3(ABCC9): c.2523C> T (p.Ala841=) single nucleotide variant Benign rs144537241 GRCh38 Chromosome 12, 21852488: 21852488
12 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh37 Chromosome 12, 22005314: 22005314
13 ABCC9 NM_005691.3(ABCC9): c.2631G> A (p.Thr877=) single nucleotide variant Benign/Likely benign rs139408145 GRCh38 Chromosome 12, 21852380: 21852380
14 ABCC9 NM_005691.3(ABCC9): c.3321C> T (p.Ile1107=) single nucleotide variant Benign rs35404804 GRCh37 Chromosome 12, 21995400: 21995400
15 ABCC9 NM_005691.3(ABCC9): c.3321C> T (p.Ile1107=) single nucleotide variant Benign rs35404804 GRCh38 Chromosome 12, 21842466: 21842466
16 ABCC9 NM_005691.3(ABCC9): c.3768T> C (p.Leu1256=) single nucleotide variant Benign rs150303433 GRCh37 Chromosome 12, 21971087: 21971087
17 ABCC9 NM_005691.3(ABCC9): c.3768T> C (p.Leu1256=) single nucleotide variant Benign rs150303433 GRCh38 Chromosome 12, 21818153: 21818153
18 ABCC9 NM_005691.3(ABCC9): c.789C> T (p.Cys263=) single nucleotide variant Benign rs58386780 GRCh37 Chromosome 12, 22068629: 22068629
19 ABCC9 NM_005691.3(ABCC9): c.789C> T (p.Cys263=) single nucleotide variant Benign rs58386780 GRCh38 Chromosome 12, 21915695: 21915695
20 ABCC9 NM_020297.3(ABCC9): c.1056C> T (p.Tyr352=) single nucleotide variant Benign rs149408382 GRCh37 Chromosome 12, 22063868: 22063868
21 ABCC9 NM_020297.3(ABCC9): c.1056C> T (p.Tyr352=) single nucleotide variant Benign rs149408382 GRCh38 Chromosome 12, 21910934: 21910934
22 ABCC9 NM_005691.3(ABCC9): c.1557G> A (p.Glu519=) single nucleotide variant Conflicting interpretations of pathogenicity rs143346402 GRCh37 Chromosome 12, 22059121: 22059121
23 ABCC9 NM_005691.3(ABCC9): c.1557G> A (p.Glu519=) single nucleotide variant Conflicting interpretations of pathogenicity rs143346402 GRCh38 Chromosome 12, 21906187: 21906187
24 ABCC9 NM_020297.3(ABCC9): c.1677G> A (p.Ala559=) single nucleotide variant Benign rs76458291 GRCh37 Chromosome 12, 22047091: 22047091
25 ABCC9 NM_020297.3(ABCC9): c.1677G> A (p.Ala559=) single nucleotide variant Benign rs76458291 GRCh38 Chromosome 12, 21894157: 21894157
26 ABCC9 NM_020297.3(ABCC9): c.1848C> T (p.Asp616=) single nucleotide variant Benign/Likely benign rs61001398 GRCh37 Chromosome 12, 22040823: 22040823
27 ABCC9 NM_020297.3(ABCC9): c.1848C> T (p.Asp616=) single nucleotide variant Benign/Likely benign rs61001398 GRCh38 Chromosome 12, 21887889: 21887889
28 ABCC9 NM_005691.3(ABCC9): c.1887G> T (p.Glu629Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150036969 GRCh37 Chromosome 12, 22040784: 22040784
29 ABCC9 NM_005691.3(ABCC9): c.1887G> T (p.Glu629Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150036969 GRCh38 Chromosome 12, 21887850: 21887850
30 ABCC9 NM_005691.3(ABCC9): c.2050G> A (p.Gly684Ser) single nucleotide variant Likely benign rs148174226 GRCh37 Chromosome 12, 22028630: 22028630
31 ABCC9 NM_005691.3(ABCC9): c.2050G> A (p.Gly684Ser) single nucleotide variant Likely benign rs148174226 GRCh38 Chromosome 12, 21875696: 21875696
32 ABCC9 NM_005691.3(ABCC9): c.2093-7T> C single nucleotide variant Benign/Likely benign rs185235724 GRCh37 Chromosome 12, 22025671: 22025671
33 ABCC9 NM_005691.3(ABCC9): c.2093-7T> C single nucleotide variant Benign/Likely benign rs185235724 GRCh38 Chromosome 12, 21872737: 21872737
34 ABCC9 NM_020297.3(ABCC9): c.2154C> T (p.Ile718=) single nucleotide variant Likely benign rs74067815 GRCh37 Chromosome 12, 22025603: 22025603
35 ABCC9 NM_020297.3(ABCC9): c.2154C> T (p.Ile718=) single nucleotide variant Likely benign rs74067815 GRCh38 Chromosome 12, 21872669: 21872669
36 ABCC9 NM_020297.3(ABCC9): c.2262T> C (p.Tyr754=) single nucleotide variant Benign/Likely benign rs145561881 GRCh37 Chromosome 12, 22015964: 22015964
37 ABCC9 NM_020297.3(ABCC9): c.2262T> C (p.Tyr754=) single nucleotide variant Benign/Likely benign rs145561881 GRCh38 Chromosome 12, 21863030: 21863030
38 ABCC9 NM_020297.3(ABCC9): c.2424+9T> C single nucleotide variant Benign/Likely benign rs11835804 GRCh37 Chromosome 12, 22013896: 22013896
39 ABCC9 NM_020297.3(ABCC9): c.2424+9T> C single nucleotide variant Benign/Likely benign rs11835804 GRCh38 Chromosome 12, 21860962: 21860962
40 ABCC9 NM_005691.3(ABCC9): c.2862C> T (p.Asp954=) single nucleotide variant Conflicting interpretations of pathogenicity rs2291550 GRCh37 Chromosome 12, 22001088: 22001088
41 ABCC9 NM_005691.3(ABCC9): c.2862C> T (p.Asp954=) single nucleotide variant Conflicting interpretations of pathogenicity rs2291550 GRCh38 Chromosome 12, 21848154: 21848154
42 ABCC9 NM_005691.3(ABCC9): c.3409G> A (p.Val1137Ile) single nucleotide variant Benign rs147895473 GRCh37 Chromosome 12, 21995312: 21995312
43 ABCC9 NM_005691.3(ABCC9): c.3409G> A (p.Val1137Ile) single nucleotide variant Benign rs147895473 GRCh38 Chromosome 12, 21842378: 21842378
44 ABCC9 NM_005691.3(ABCC9): c.372T> C (p.Asn124=) single nucleotide variant Conflicting interpretations of pathogenicity rs377384557 GRCh37 Chromosome 12, 22078910: 22078910
45 ABCC9 NM_005691.3(ABCC9): c.372T> C (p.Asn124=) single nucleotide variant Conflicting interpretations of pathogenicity rs377384557 GRCh38 Chromosome 12, 21925976: 21925976
46 ABCC9 NM_005691.3(ABCC9): c.4062G> A (p.Ser1354=) single nucleotide variant Likely benign rs145005748 GRCh37 Chromosome 12, 21967618: 21967618
47 ABCC9 NM_005691.3(ABCC9): c.4062G> A (p.Ser1354=) single nucleotide variant Likely benign rs145005748 GRCh38 Chromosome 12, 21814684: 21814684
48 ABCC9 NM_005691.3(ABCC9): c.4437T> C (p.Ile1479=) single nucleotide variant Likely benign rs368079660 GRCh37 Chromosome 12, 21960292: 21960292
49 ABCC9 NM_005691.3(ABCC9): c.4437T> C (p.Ile1479=) single nucleotide variant Likely benign rs368079660 GRCh38 Chromosome 12, 21807358: 21807358
50 ABCC9 NM_005691.3(ABCC9): c.798T> C (p.Asp266=) single nucleotide variant Benign/Likely benign rs138356189 GRCh37 Chromosome 12, 22068620: 22068620

Expression for Cardiomyopathy, Dilated, 1o

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1o.

Pathways for Cardiomyopathy, Dilated, 1o

GO Terms for Cardiomyopathy, Dilated, 1o

Cellular components related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.72 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8
2 mitochondrion GO:0005739 9.56 ABCC8 GJA1 KCNJ11 KCNJ8
3 intracellular membrane-bounded organelle GO:0043231 9.54 GJA1 KCNJ11 KCNJ8
4 sarcolemma GO:0042383 9.26 ABCC8 ABCC9 KCNJ11 KCNJ8
5 intercalated disc GO:0014704 9.16 GJA1 KCNJ11
6 inward rectifying potassium channel GO:0008282 8.92 ABCC8 ABCC9 KCNJ11 KCNJ8

Biological processes related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.69 ABCC8 ABCC9 GJA1
2 response to drug GO:0042493 9.63 ABCC8 ABCC9 KCNJ11
3 ion transmembrane transport GO:0034220 9.58 GJA1 KCNJ11 KCNJ8
4 regulation of ion transmembrane transport GO:0034765 9.54 KCNJ11 KCNJ8
5 response to estradiol GO:0032355 9.52 GJA1 KCNJ11
6 response to lipopolysaccharide GO:0032496 9.5 ABCC8 GJA1 KCNJ8
7 regulation of insulin secretion GO:0050796 9.49 ABCC8 KCNJ11
8 response to ischemia GO:0002931 9.48 GJA1 KCNJ11
9 negative regulation of insulin secretion GO:0046676 9.43 ABCC8 KCNJ11
10 negative regulation of wound healing GO:0061045 9.37 ABCC8 GJA1
11 potassium ion transmembrane transport GO:0071805 9.33 ABCC8 KCNJ11 KCNJ8
12 response to pH GO:0009268 9.26 ABCC8 GJA1
13 potassium ion import across plasma membrane GO:1990573 9.13 ABCC9 KCNJ11 KCNJ8
14 potassium ion transport GO:0006813 8.92 ABCC8 ABCC9 KCNJ11 KCNJ8

Molecular functions related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.67 ABCC8 ABCC9 KCNJ11 KCNJ8
2 voltage-gated ion channel activity GO:0005244 9.43 KCNJ11 KCNJ8
3 potassium channel activity GO:0005267 9.4 ABCC8 ABCC9
4 ion channel binding GO:0044325 9.33 ABCC8 ABCC9 KCNJ11
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.32 ABCC8 ABCC9
6 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ11 KCNJ8
7 sulfonylurea receptor activity GO:0008281 8.96 ABCC8 ABCC9
8 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 KCNJ8

Sources for Cardiomyopathy, Dilated, 1o

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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