CMD1H
MCID: CRD069
MIFTS: 30

Cardiomyopathy, Dilated, 1h (CMD1H)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1h

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1h:

Name: Cardiomyopathy, Dilated, 1h 56 13 71
Dilated Cardiomyopathy 1h 12 15
Cardiomyopathy, Dilated, with Conduction Defect 56
Dilated Cardiomyopathy with Conduction Defect 12
Cmd1h 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0110429
OMIM 56 604288
OMIM Phenotypic Series 56 PS115200
ICD10 32 I42.0
UMLS 71 C1858591

Summaries for Cardiomyopathy, Dilated, 1h

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.

MalaCards based summary : Cardiomyopathy, Dilated, 1h, also known as dilated cardiomyopathy 1h, is related to cardiomyopathy, dilated, 1a and myopathy. An important gene associated with Cardiomyopathy, Dilated, 1h is CMD1H (Cardiomyopathy, Dilated 1H (Autosomal Dominant)), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cytoskeletal Signaling. Affiliated tissues include heart, and related phenotypes are cellular and growth/size/body region

More information from OMIM: 604288 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1h

Diseases in the Rare 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 Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 30.9 TMEM43 SYNE1 SUN1 LMNB2 LMNB1 LMNA
2 myopathy 28.8 TMEM43 SYNE1 SUN2 LMNA EMD
3 dilated cardiomyopathy 27.7 TMEM43 SYNE1 SUN2 LMNA LBR EMD
4 muscular dystrophy, congenital, lmna-related 27.6 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1
5 muscular dystrophy 26.9 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1
6 cardiomyopathy, dilated, 1e 11.8
7 myopathy, myofibrillar, 1 11.7
8 first-degree atrioventricular block 10.2 LMNA EMD
9 atrial standstill 1 10.2
10 autosomal dominant limb-girdle muscular dystrophy 10.1 LMNA EMD
11 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TMEM43 LMNA
12 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 TMEM43 LMNA
13 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 TMEM43 LMNA
14 muscular disease 10.0 LMNB2 LMNA EMD
15 congestive heart failure 10.0
16 limb-girdle muscular dystrophy 10.0
17 lama2-related muscular dystrophy 10.0
18 arrhythmogenic right ventricular dysplasia, familial, 5 10.0 TMEM43 EMD
19 left bundle branch hemiblock 10.0 TMEM43 LMNA
20 nonencapsulated sclerosing carcinoma 9.9 LMNB2 LMNB1 LMNA
21 emerinopathy 9.9 SUN2 LMNA EMD
22 x-linked emery-dreifuss muscular dystrophy 9.9 SYNE1 LMNA EMD
23 familial partial lipodystrophy 9.8 LMNA EMD
24 lipodystrophy, familial partial, type 5 9.7 LMNB2 LMNB1 LMNA EMD
25 muscle tissue disease 9.7 LMNB2 LMNB1 LMNA EMD
26 laminopathy 9.7 SUN2 SUN1 LMNA EMD
27 left ventricular noncompaction 9.6 TMEM43 LMNA DNAJC19
28 arrhythmogenic right ventricular cardiomyopathy 9.6 TMEM43 LMNA EMD
29 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.5 TMEM43 SYNE1 LMNA EMD
30 spinocerebellar ataxia, autosomal recessive 8 9.5 SYNE1 SUN2 SUN1 EMD
31 primary hyperoxaluria 9.5 LMNB2 LMNB1 LBR
32 osteopoikilosis 9.4 LMNB2 LMNA LBR EMD
33 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.4 SYNE1 LMNB2 LMNB1 LMNA EMD
34 neuromuscular disease 9.4 SUN2 LMNB2 LMNB1 LMNA EMD
35 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.3 TMEM43 SYNE1 SUN2 SUN1
36 reynolds syndrome 9.0 SUN2 LMNB2 LMNB1 LMNA LBR
37 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.0 TMEM43 SYNE1 SUN2 SUN1 LMNA EMD
38 myopathy, x-linked, with postural muscle atrophy 8.9 TMEM43 SYNE1 SUN2 SUN1 LMNA EMD
39 charcot-marie-tooth disease 8.8 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
40 buschke-ollendorff syndrome 8.8 SYNE1 LMNB2 LMNB1 LMNA LBR EMD
41 pelger-huet anomaly 8.5 SYNE1 SUN1 LMNB2 LMNB1 LMNA LBR
42 emery-dreifuss muscular dystrophy 3, autosomal recessive 8.4 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1
43 charcot-marie-tooth disease, axonal, type 2b1 8.4 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1
44 emery-dreifuss muscular dystrophy 1, x-linked 8.4 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1
45 greenberg dysplasia 8.2 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
46 hutchinson-gilford progeria syndrome 8.2 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
47 emery-dreifuss muscular dystrophy 7.8 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1
48 emery-dreifuss muscular dystrophy 2, autosomal dominant 7.8 TMEM43 SYNE1 SUN2 SUN1 LMNB2 LMNB1

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



Diseases related to Cardiomyopathy, Dilated, 1h

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1h

Clinical features from OMIM:

604288

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 EMD LBR LMNA LMNB1 LMNB2 SUN1
2 growth/size/body region MP:0005378 9.76 DNAJC19 LBR LMNA LMNB1 LMNB2 SUN1
3 homeostasis/metabolism MP:0005376 9.61 DNAJC19 EMD LBR LMNA LMNB1 LMNB2
4 muscle MP:0005369 9.17 EMD LMNA LMNB1 LMNB2 SUN1 SUN2

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1h

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

Genetic Tests for Cardiomyopathy, Dilated, 1h

Anatomical Context for Cardiomyopathy, Dilated, 1h

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1h

Articles related to Cardiomyopathy, Dilated, 1h:

# Title Authors PMID Year
1
Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. 56
10486326 1999
2
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect]. 61
16320577 2005

Variations for Cardiomyopathy, Dilated, 1h

Expression for Cardiomyopathy, Dilated, 1h

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

Pathways for Cardiomyopathy, Dilated, 1h

GO Terms for Cardiomyopathy, Dilated, 1h

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 ZNF239 TMEM43 SYNE1 SUN2 SUN1 LMNB2
2 nuclear membrane GO:0031965 9.76 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
3 intermediate filament GO:0005882 9.63 LMNB2 LMNB1 LMNA
4 integral component of nuclear inner membrane GO:0005639 9.56 TMEM43 SUN2 SUN1 LBR
5 nuclear envelope GO:0005635 9.56 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.54 SYNE1 SUN2 SUN1
7 lamin filament GO:0005638 9.5 LMNB2 LMNB1 LMNA
8 nuclear outer membrane GO:0005640 9.43 SYNE1 EMD
9 nuclear inner membrane GO:0005637 9.17 TMEM43 SUN2 SUN1 LMNB2 LMNB1 LBR

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

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.4 SYNE1 LMNA
2 centrosome localization GO:0051642 9.37 SUN2 SUN1
3 nuclear envelope organization GO:0006998 9.33 SUN2 SUN1 LMNA
4 mitotic nuclear envelope reassembly GO:0007084 9.32 LMNA EMD
5 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.26 SUN2 SUN1
6 cytoskeletal anchoring at nuclear membrane GO:0090286 9.13 SYNE1 SUN2 SUN1
7 nuclear matrix anchoring at nuclear membrane GO:0090292 8.8 SYNE1 SUN2 SUN1

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

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
2 lamin binding GO:0005521 8.92 SYNE1 SUN2 SUN1 LBR

Sources for Cardiomyopathy, Dilated, 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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