CMD1O
MCID: CRD105
MIFTS: 37

Cardiomyopathy, Dilated, 1o (CMD1O) malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1o

Aliases & Descriptions for Cardiomyopathy, Dilated, 1o:

Name: Cardiomyopathy, Dilated, 1o 54 13 69
Dilated Cardiomyopathy with Ventricular Tachycardia 12 66
Cardiomyopathy, Dilated 1o 66 29
Dilated Cardiomyopathy 1o 12 14
Cmd1o 12 66

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 : 66 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 with ventricular tachycardia, is related to abcc9-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including impaired myocardial contractility, dilated cardiomyopathy and ventricular tachycardia. 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, 1t 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 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 cardiomyopathy, dilated, 1a 10.9
3 epidermolysis bullosa simplex, koebner type 10.1 ABCC9 KCNJ8
4 cerebellum cancer 10.1 ABCC9 KCNJ8
5 nosophobia 10.1 ABCC8 KCNJ11
6 labyrinthine unilateral reactive loss 10.0 ABCC8 KCNJ11
7 hemorrhagic fever 10.0 ABCC8 KCNJ11
8 mosaic trisomy 13 10.0 ABCC8 KCNJ11
9 vulvovaginitis 10.0 ABCC9 KCNJ8
10 autoimmune disease 1 10.0 ABCC8 KCNJ11
11 fanconi anemia, complementation group f 10.0 ABCC8 KCNJ11
12 non-syndromic intellectual disability 10.0 ABCC8 KCNJ11
13 maturity-onset diabetes of the young, type 13 10.0 ABCC8 KCNJ11
14 diabetic cataract 10.0 ABCC8 KCNJ11
15 focal segmental glomerulosclerosis 8 10.0 ABCC8 KCNJ11
16 acute closed-angle glaucoma 10.0 ABCC9 KCNJ8
17 deafness, autosomal recessive 66 10.0 ABCC8 KCNJ11
18 neurogenic arthropathy 10.0 ABCC8 KCNJ11
19 chondroma 10.0 ABCC8 KCNJ11
20 hypertrichotic osteochondrodysplasia cantu type 10.0 GJA1 KCNJ11
21 distal muscular dystrophy 10.0 ABCC8 KCNJ11
22 exostosis 9.9 ABCC8 KCNJ11
23 brain stem glioma 9.9 ABCC8 KCNJ11
24 peroneal neuropathy 9.9 ABCC8 KCNJ11
25 body dysmorphic disorder 9.8 ABCC8 KCNJ11
26 ritscher-schinzel syndrome 2 9.7 ABCC8 ABCC9 KCNJ11 KCNJ8
27 noonan syndrome 3 9.4 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 impaired myocardial contractility 32 HP:0006670
2 dilated cardiomyopathy 32 HP:0001644
3 ventricular tachycardia 32 HP:0004756

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:

66
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 13)
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 9.67 ABCC8 ABCC9 KCNJ11
3 response to lipopolysaccharide GO:0032496 9.61 ABCC8 GJA1 KCNJ8
4 transmembrane transport GO:0055085 9.56 ABCC8 ABCC9 GJA1 KCNJ11
5 regulation of insulin secretion GO:0050796 9.52 ABCC8 KCNJ11
6 regulation of cardiac conduction GO:1903779 9.51 ABCC9 KCNJ11
7 potassium ion transmembrane transport GO:0071805 9.5 ABCC8 KCNJ11 KCNJ8
8 response to ischemia GO:0002931 9.48 GJA1 KCNJ11
9 negative regulation of insulin secretion GO:0046676 9.46 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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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