MCID: CRD105
MIFTS: 35

Cardiomyopathy, Dilated, 1o

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1o

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1o:

Name: Cardiomyopathy, Dilated, 1o 57 13 73
Dilated Cardiomyopathy 1o 12 29 6 15
Cmd1o 57 12 75
Dilated Cardiomyopathy with Ventricular Tachycardia 12 75
Cardiomyopathy, Dilated, with Ventricular Tachycardia 57
Cardiomyopathy, Dilated, Type 1o 40
Cardiomyopathy, Dilated 1o 75

Characteristics:

HPO:

32
cardiomyopathy, dilated, 1o:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608569
Disease Ontology 12 DOID:0110451
ICD10 33 I42.0
MedGen 42 C1837839
MeSH 44 D002311
UMLS 73 C1837839

Summaries for Cardiomyopathy, Dilated, 1o

UniProtKB/Swiss-Prot : 75 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 osteochondrodysplasia and munchausen by proxy. 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 related phenotypes are dilated cardiomyopathy and ventricular tachycardia

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
Dmd-Related Dilated 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 25)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplasia 10.0 ABCC9 KCNJ8
2 munchausen by proxy 10.0 ABCC8 KCNJ11
3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 ABCC8 KCNJ11
4 factitious disorder 10.0 ABCC8 KCNJ11
5 hyperinsulinemic hypoglycemia, familial, 2 10.0 ABCC8 KCNJ11
6 dilated cardiomyopathy 10.0
7 acute insulin response 10.0 ABCC8 KCNJ11
8 usher syndrome, type ic 10.0 ABCC8 KCNJ11
9 monogenic diabetes 9.9 ABCC8 KCNJ11
10 pancreatic agenesis 9.9 ABCC8 KCNJ11
11 endocrine pancreas disease 9.9 ABCC8 KCNJ11
12 pancreas disease 9.9 ABCC8 KCNJ11
13 diabetes mellitus, transient neonatal, 1 9.9 ABCC8 KCNJ11
14 hyperinsulinemic hypoglycemia 9.9 ABCC8 KCNJ11
15 diabetes mellitus, permanent neonatal 9.8 ABCC8 KCNJ11
16 glucose metabolism disease 9.8 ABCC8 KCNJ11
17 neonatal diabetes mellitus 9.8 ABCC8 KCNJ11
18 anomalous left coronary artery from the pulmonary artery 9.7 GJA1 KCNJ11
19 hyperinsulinism 9.7 ABCC8 KCNJ11
20 hyperglycemia 9.7 ABCC8 KCNJ11
21 hypertrichosis 9.6 ABCC9 KCNJ11 KCNJ8
22 hypoglycemia 9.6 ABCC8 KCNJ11
23 maturity-onset diabetes of the young 9.5 ABCC8 KCNJ11
24 ischemia 9.0 GJA1 KCNJ11
25 cantu syndrome 8.9 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

Clinical features from OMIM:

608569

Human phenotypes related to Cardiomyopathy, Dilated, 1o:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 very rare (1%) HP:0001644
2 ventricular tachycardia 32 very rare (1%) HP:0004756
3 impaired myocardial contractility 32 very rare (1%) HP:0006670

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

46
# 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 29 ABCC9

Anatomical Context for Cardiomyopathy, Dilated, 1o

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1o

Articles related to Cardiomyopathy, Dilated, 1o:

# Title Authors Year
1
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:

75
# 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 177)
# 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_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh38 Chromosome 12, 21842326: 21842326
5 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh37 Chromosome 12, 21995261: 21995261
6 ABCC9 NM_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh38 Chromosome 12, 21842327: 21842327
7 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh37 Chromosome 12, 21995260: 21995260
8 ABCC9 NM_005691.3(ABCC9): c.3669G> A (p.Thr1223=) single nucleotide variant Uncertain significance rs146942382 GRCh37 Chromosome 12, 21981892: 21981892
9 ABCC9 NM_005691.3(ABCC9): c.3669G> A (p.Thr1223=) single nucleotide variant Uncertain significance rs146942382 GRCh38 Chromosome 12, 21828958: 21828958
10 ABCC9 NM_020297.3(ABCC9): c.3339T> G (p.Ser1113=) single nucleotide variant Benign/Likely benign rs138280089 GRCh37 Chromosome 12, 21995382: 21995382
11 ABCC9 NM_020297.3(ABCC9): c.3339T> G (p.Ser1113=) single nucleotide variant Benign/Likely benign rs138280089 GRCh38 Chromosome 12, 21842448: 21842448
12 ABCC9 NM_005691.3(ABCC9): c.2238-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141281214 GRCh37 Chromosome 12, 22015989: 22015989
13 ABCC9 NM_005691.3(ABCC9): c.2238-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs141281214 GRCh38 Chromosome 12, 21863055: 21863055
14 ABCC9 NM_005691.3(ABCC9): c.1296C> T (p.Pro432=) single nucleotide variant Likely benign rs10770865 GRCh38 Chromosome 12, 21910181: 21910181
15 ABCC9 NM_005691.3(ABCC9): c.1296C> T (p.Pro432=) single nucleotide variant Likely benign rs10770865 GRCh37 Chromosome 12, 22063115: 22063115
16 ABCC9 NM_005691.3(ABCC9): c.48C> T (p.Asn16=) single nucleotide variant Likely benign rs199631710 GRCh37 Chromosome 12, 22089561: 22089561
17 ABCC9 NM_005691.3(ABCC9): c.48C> T (p.Asn16=) single nucleotide variant Likely benign rs199631710 GRCh38 Chromosome 12, 21936627: 21936627
18 ABCC9 NM_005691.3(ABCC9): c.47A> G (p.Asn16Ser) single nucleotide variant Uncertain significance rs727502877 GRCh37 Chromosome 12, 22089562: 22089562
19 ABCC9 NM_005691.3(ABCC9): c.47A> G (p.Asn16Ser) single nucleotide variant Uncertain significance rs727502877 GRCh38 Chromosome 12, 21936628: 21936628
20 ABCC9 NM_005691.3(ABCC9): c.3594G> A (p.Met1198Ile) single nucleotide variant Uncertain significance rs199900459 GRCh38 Chromosome 12, 21829033: 21829033
21 ABCC9 NM_005691.3(ABCC9): c.3594G> A (p.Met1198Ile) single nucleotide variant Uncertain significance rs199900459 GRCh37 Chromosome 12, 21981967: 21981967
22 ABCC9 NM_005691.3(ABCC9): c.287G> A (p.Arg96Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs202103893 GRCh38 Chromosome 12, 21926061: 21926061
23 ABCC9 NM_005691.3(ABCC9): c.287G> A (p.Arg96Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs202103893 GRCh37 Chromosome 12, 22078995: 22078995
24 ABCC9 NM_020297.3(ABCC9): c.2826T> C (p.Tyr942=) single nucleotide variant Conflicting interpretations of pathogenicity rs141025897 GRCh38 Chromosome 12, 21848190: 21848190
25 ABCC9 NM_020297.3(ABCC9): c.2826T> C (p.Tyr942=) single nucleotide variant Conflicting interpretations of pathogenicity rs141025897 GRCh37 Chromosome 12, 22001124: 22001124
26 ABCC9 NM_005691.3(ABCC9): c.4570_4572delTTAinsAAAT (p.Leu1524Lysfs) indel Uncertain significance rs869025349 GRCh37 Chromosome 12, 21958186: 21958188
27 ABCC9 NM_005691.3(ABCC9): c.4570_4572delTTAinsAAAT (p.Leu1524Lysfs) indel Uncertain significance rs869025349 GRCh38 Chromosome 12, 21805252: 21805254
28 ABCC9 NM_005691.3(ABCC9): c.4591C> T (p.Pro1531Ser) single nucleotide variant Uncertain significance rs142875103 GRCh38 Chromosome 12, 21805233: 21805233
29 ABCC9 NM_005691.3(ABCC9): c.4591C> T (p.Pro1531Ser) single nucleotide variant Uncertain significance rs142875103 GRCh37 Chromosome 12, 21958167: 21958167
30 ABCC9 NM_005691.3(ABCC9): c.3993C> T (p.His1331=) single nucleotide variant Likely benign rs377704379 GRCh38 Chromosome 12, 21815793: 21815793
31 ABCC9 NM_005691.3(ABCC9): c.3993C> T (p.His1331=) single nucleotide variant Likely benign rs377704379 GRCh37 Chromosome 12, 21968727: 21968727
32 ABCC9 NM_020297.3(ABCC9): c.3729G> A (p.Ser1243=) single nucleotide variant Likely benign rs140182559 GRCh38 Chromosome 12, 21818192: 21818192
33 ABCC9 NM_020297.3(ABCC9): c.3729G> A (p.Ser1243=) single nucleotide variant Likely benign rs140182559 GRCh37 Chromosome 12, 21971126: 21971126
34 ABCC9 NM_005691.3(ABCC9): c.3030T> C (p.Ala1010=) single nucleotide variant Benign/Likely benign rs76102634 GRCh37 Chromosome 12, 21998603: 21998603
35 ABCC9 NM_005691.3(ABCC9): c.3030T> C (p.Ala1010=) single nucleotide variant Benign/Likely benign rs76102634 GRCh38 Chromosome 12, 21845669: 21845669
36 ABCC9 NM_005691.3(ABCC9): c.1933A> G (p.Lys645Glu) single nucleotide variant Uncertain significance rs876657734 GRCh38 Chromosome 12, 21882852: 21882852
37 ABCC9 NM_005691.3(ABCC9): c.1933A> G (p.Lys645Glu) single nucleotide variant Uncertain significance rs876657734 GRCh37 Chromosome 12, 22035786: 22035786
38 ABCC9 NM_005691.3(ABCC9): c.1212C> T (p.Ser404=) single nucleotide variant Likely benign rs376726505 GRCh37 Chromosome 12, 22063199: 22063199
39 ABCC9 NM_005691.3(ABCC9): c.1212C> T (p.Ser404=) single nucleotide variant Likely benign rs376726505 GRCh38 Chromosome 12, 21910265: 21910265
40 ABCC9 NM_005691.3(ABCC9): c.4353T> C (p.Val1451=) single nucleotide variant Likely benign rs771226136 GRCh38 Chromosome 12, 21807442: 21807442
41 ABCC9 NM_005691.3(ABCC9): c.4353T> C (p.Val1451=) single nucleotide variant Likely benign rs771226136 GRCh37 Chromosome 12, 21960376: 21960376
42 ABCC9 NM_005691.3(ABCC9): c.3316-4A> C single nucleotide variant Likely benign rs201147809 GRCh37 Chromosome 12, 21995409: 21995409
43 ABCC9 NM_005691.3(ABCC9): c.3316-4A> C single nucleotide variant Likely benign rs201147809 GRCh38 Chromosome 12, 21842475: 21842475
44 ABCC9 NM_005691.3(ABCC9): c.3095A> G (p.Gln1032Arg) single nucleotide variant Uncertain significance rs757471451 GRCh38 Chromosome 12, 21845604: 21845604
45 ABCC9 NM_005691.3(ABCC9): c.3095A> G (p.Gln1032Arg) single nucleotide variant Uncertain significance rs757471451 GRCh37 Chromosome 12, 21998538: 21998538
46 ABCC9 NM_005691.3(ABCC9): c.2630C> T (p.Thr877Met) single nucleotide variant Uncertain significance rs140872303 GRCh38 Chromosome 12, 21852381: 21852381
47 ABCC9 NM_005691.3(ABCC9): c.2630C> T (p.Thr877Met) single nucleotide variant Uncertain significance rs140872303 GRCh37 Chromosome 12, 22005315: 22005315
48 ABCC9 NM_005691.3(ABCC9): c.1975A> G (p.Thr659Ala) single nucleotide variant Uncertain significance rs878854783 GRCh37 Chromosome 12, 22035744: 22035744
49 ABCC9 NM_005691.3(ABCC9): c.1975A> G (p.Thr659Ala) single nucleotide variant Uncertain significance rs878854783 GRCh38 Chromosome 12, 21882810: 21882810
50 ABCC9 NM_005691.3(ABCC9): c.1165-2A> G single nucleotide variant Uncertain significance rs878854782 GRCh37 Chromosome 12, 22063248: 22063248

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 9.77 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8
2 integral component of plasma membrane GO:0005887 9.62 ABCC8 ABCC9 GJA1 KCNJ11
3 intracellular membrane-bounded organelle GO:0043231 9.58 GJA1 KCNJ11 KCNJ8
4 voltage-gated potassium channel complex GO:0008076 9.33 ABCC8 ABCC9 KCNJ8
5 intercalated disc GO:0014704 9.26 GJA1 KCNJ11
6 sarcolemma GO:0042383 9.26 ABCC8 ABCC9 KCNJ11 KCNJ8
7 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 12)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.61 ABCC8 ABCC9 KCNJ11
2 ion transmembrane transport GO:0034220 9.58 GJA1 KCNJ11 KCNJ8
3 transmembrane transport GO:0055085 9.56 ABCC8 ABCC9 GJA1 KCNJ11
4 regulation of ion transmembrane transport GO:0034765 9.51 KCNJ11 KCNJ8
5 regulation of insulin secretion GO:0050796 9.49 ABCC8 KCNJ11
6 regulation of cardiac conduction GO:1903779 9.48 ABCC9 KCNJ11
7 response to ischemia GO:0002931 9.46 GJA1 KCNJ11
8 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.37 ABCC8 ABCC9
9 potassium ion transmembrane transport GO:0071805 9.33 ABCC8 KCNJ11 KCNJ8
10 response to pH GO:0009268 9.32 GJA1 KCNJ8
11 potassium ion import GO:0010107 9.13 ABCC9 KCNJ11 KCNJ8
12 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 9.71 ABCC8 ABCC9 KCNJ11 KCNJ8
2 voltage-gated ion channel activity GO:0005244 9.46 KCNJ11 KCNJ8
3 potassium channel activity GO:0005267 9.43 ABCC8 ABCC9
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.37 ABCC8 ABCC9
5 ion channel binding GO:0044325 9.33 ABCC8 ABCC9 KCNJ11
6 inward rectifier potassium channel activity GO:0005242 9.32 KCNJ11 KCNJ8
7 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.26 ABCC8 ABCC9
8 sulfonylurea receptor activity GO:0008281 8.96 ABCC8 ABCC9
9 ATP-activated inward rectifier potassium channel activity GO:0015272 8.8 ABCC8 KCNJ11 KCNJ8

Sources for Cardiomyopathy, Dilated, 1o

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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