MCID: CRD105
MIFTS: 36

Cardiomyopathy, Dilated, 1o

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1o

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1o:

Name: Cardiomyopathy, Dilated, 1o 53 13 69
Dilated Cardiomyopathy 1o 12 28 14
Cmd1o 53 12 71
Dilated Cardiomyopathy with Ventricular Tachycardia 12 71
Cardiomyopathy, Dilated, with Ventricular Tachycardia 53
Cardiomyopathy, Dilated 1o 71

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1o:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 608569
Disease Ontology 12 DOID:0110451
ICD10 32 I42.0
MedGen 39 C1837839
MeSH 41 D002311
UMLS 69 C1837839

Summaries for Cardiomyopathy, Dilated, 1o

UniProtKB/Swiss-Prot : 71 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 hypertrichosis and osteochondrodysplasia, and has symptoms including dilated cardiomyopathy, ventricular tachycardia and impaired myocardial contractility. 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 Potassium Channels. Affiliated tissues include heart, and related phenotype is homeostasis/metabolism.

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

Clinical features from OMIM:

608569

Human phenotypes related to Cardiomyopathy, Dilated, 1o:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 very rare (1%) HP:0001644
2 ventricular tachycardia 31 very rare (1%) HP:0004756
3 impaired myocardial contractility 31 very rare (1%) HP:0006670

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

43
# 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 28 ABCC9

Anatomical Context for Cardiomyopathy, Dilated, 1o

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

38
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:

71
# Symbol AA change Variation ID SNP ID
1 ABCC9 p.Ala1513Thr VAR_018483 rs72559751

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

6
# 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_005691.3(ABCC9): c.3460C> T (p.Arg1154Trp) single nucleotide variant Pathogenic rs387907208 GRCh37 Chromosome 12, 21995261: 21995261
4 ABCC9 NM_020297.3(ABCC9): c.3461G> A (p.Arg1154Gln) single nucleotide variant Pathogenic rs387907209 GRCh37 Chromosome 12, 21995260: 21995260
5 ABCC9 NM_005691.3(ABCC9): c.3796G> A (p.Val1266Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 21970217: 21970217

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 9.8 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8
2 mitochondrion GO:0005739 9.62 ABCC8 GJA1 KCNJ11 KCNJ8
3 intracellular membrane-bounded organelle GO:0043231 9.54 GJA1 KCNJ11 KCNJ8
4 sarcolemma GO:0042383 9.46 ABCC8 ABCC9 KCNJ11 KCNJ8
5 intercalated disc GO:0014704 9.26 GJA1 KCNJ11
6 voltage-gated potassium channel complex GO:0008076 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 15)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.77 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8
2 transmembrane transport GO:0055085 9.71 ABCC8 ABCC9 GJA1 KCNJ11
3 response to drug GO:0042493 9.7 ABCC8 ABCC9 KCNJ11
4 response to lipopolysaccharide GO:0032496 9.65 ABCC8 GJA1 KCNJ8
5 regulation of insulin secretion GO:0050796 9.55 ABCC8 KCNJ11
6 regulation of cardiac conduction GO:1903779 9.54 ABCC9 KCNJ11
7 response to ischemia GO:0002931 9.51 GJA1 KCNJ11
8 potassium ion transmembrane transport GO:0071805 9.5 ABCC8 KCNJ11 KCNJ8
9 negative regulation of insulin secretion GO:0046676 9.49 ABCC8 KCNJ11
10 negative regulation of wound healing GO:0061045 9.46 ABCC8 GJA1
11 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.43 ABCC8 ABCC9
12 cation transmembrane transport GO:0098655 9.43 ABCC8 KCNJ11 KCNJ8
13 potassium ion import GO:0010107 9.33 ABCC9 KCNJ11 KCNJ8
14 potassium ion transport GO:0006813 9.26 ABCC8 ABCC9 KCNJ11 KCNJ8
15 response to pH GO:0009268 8.8 ABCC8 GJA1 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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