MCID: CRD105
MIFTS: 37

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 54 13 69
Dilated Cardiomyopathy 1o 12 29 14
Dilated Cardiomyopathy with Ventricular Tachycardia 12 71
Cmd1o 12 71
Cardiomyopathy, Dilated 1o 71

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 608569
Disease Ontology 12 DOID:0110451
ICD10 33 I42.0
MedGen 40 C1837839
MeSH 42 D002311

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 abcc9-related dilated cardiomyopathy and sed congenita, 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 Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 3b Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Dilated Cardiomyopathy 1c
Dilated Cardiomyopathy 1aa Dilated Cardiomyopathy 1b
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 abcc9-related dilated cardiomyopathy 11.1
2 sed congenita 10.2 ABCC9 KCNJ8
3 brain stem cancer 10.1 ABCC9 KCNJ8
4 writing disorder 10.1 ABCC8 KCNJ11
5 diabetes mellitus, transient neonatal, 3 10.1 ABCC8 KCNJ11
6 acute closed-angle glaucoma 10.1 ABCC9 KCNJ8
7 labyrinthine unilateral reactive loss 10.1 ABCC8 KCNJ11
8 hemoglobin zurich 10.0 ABCC8 KCNJ11
9 acute insulin response 10.0 ABCC8 KCNJ11
10 vulvovaginitis 10.0 ABCC9 KCNJ8
11 morning glory syndrome 10.0 ABCC8 KCNJ11
12 deafness, autosomal recessive 18a 10.0 ABCC8 KCNJ11
13 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.0 ABCC8 KCNJ11
14 neurogenic arthropathy 10.0 ABCC8 KCNJ11
15 nephronophthisis 19 10.0 ABCC8 KCNJ11
16 chondroma 10.0 ABCC8 KCNJ11
17 diabetic cataract 10.0 ABCC8 KCNJ11
18 diaphanospondylodysostosis 9.9 ABCC8 KCNJ11
19 ritscher-schinzel syndrome 9.8 GJA1 KCNJ11
20 distal muscular dystrophy 9.8 ABCC8 KCNJ11
21 hypertrichosis 9.8 ABCC8 KCNJ11
22 exostosis 9.7 ABCC8 KCNJ11
23 congenital stationary night blindness 9.7 ABCC8 KCNJ11
24 triple x syndrome 9.6 ABCC8 KCNJ11
25 peroneal neuropathy 9.4 ABCC8 KCNJ11
26 noonan syndrome 2 9.1 ABCC8 ABCC9 KCNJ11 KCNJ8
27 atrial fibrillation, familial, 12 8.3 ABCC8 ABCC9 GJA1 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
id 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:

44
id 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:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1o 29

Anatomical Context for Cardiomyopathy, Dilated, 1o

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1o

Variations for Cardiomyopathy, Dilated, 1o

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

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

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

6
id 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

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:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.77 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8
2 mitochondrion GO:0005739 9.62 ABCC8 GJA1 KCNJ11 KCNJ8
3 sarcolemma GO:0042383 9.46 ABCC8 ABCC9 KCNJ11 KCNJ8
4 intercalated disc GO:0014704 9.26 GJA1 KCNJ11
5 voltage-gated potassium channel complex GO:0008076 9.26 ABCC8 ABCC9 KCNJ11 KCNJ8
6 ATP-sensitive potassium channel complex GO:0008282 8.92 ABCC8 ABCC9 KCNJ11 KCNJ8

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.8 ABCC8 ABCC9 GJA1 KCNJ11 KCNJ8
2 response to drug GO:0042493 9.69 ABCC8 ABCC9 KCNJ11
3 response to lipopolysaccharide GO:0032496 9.63 ABCC8 GJA1 KCNJ8
4 transmembrane transport GO:0055085 9.56 ABCC8 ABCC9 GJA1 KCNJ11
5 regulation of insulin secretion GO:0050796 9.54 ABCC8 KCNJ11
6 regulation of cardiac conduction GO:1903779 9.52 ABCC9 KCNJ11
7 potassium ion transmembrane transport GO:0071805 9.5 ABCC8 KCNJ11 KCNJ8
8 response to ischemia GO:0002931 9.49 GJA1 KCNJ11
9 negative regulation of insulin secretion GO:0046676 9.48 ABCC8 KCNJ11
10 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.37 ABCC8 ABCC9
11 potassium ion import GO:0010107 9.33 ABCC9 KCNJ11 KCNJ8
12 potassium ion transport GO:0006813 9.26 ABCC8 ABCC9 KCNJ11 KCNJ8
13 negative regulation of wound healing GO:0061045 9.13 GJA1
14 response to pH GO:0009268 8.8 ABCC8 GJA1 KCNJ8

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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