CMD1H
MCID: CRD069
MIFTS: 33

Cardiomyopathy, Dilated, 1h (CMD1H)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1h

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1h:

Name: Cardiomyopathy, Dilated, 1h 58 13 74
Dilated Cardiomyopathy 1h 12 15
Cmd1h 58 12
Cardiomyopathy, Dilated, with Conduction Defect 58
Dilated Cardiomyopathy with Conduction Defect 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110429
OMIM 58 604288
ICD10 34 I42.0
UMLS 74 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 cardiomyopathy, dilated, 1e. An important gene associated with Cardiomyopathy, Dilated, 1h is CMD1H (Cardiomyopathy, Dilated 1H (Autosomal Dominant)), and among its related pathways/superpathways are Mitotic Metaphase and Anaphase and Apoptosis Modulation and Signaling. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 604288

Related Diseases for Cardiomyopathy, Dilated, 1h

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
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t 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 28)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 32.7 EMD LMNA SNCA
2 cardiomyopathy, dilated, 1e 32.3 DES LMNA SNCA
3 muscular dystrophy 29.7 DES EMD LMNA
4 dilated cardiomyopathy 29.3 DES EMD LMNA
5 myopathy, myofibrillar, 1 11.6
6 cone-rod dystrophy and hearing loss 2 11.1
7 proximal spinal muscular atrophy 10.1 DES LMNA
8 emerinopathy 10.0 EMD LMNA
9 acquired generalized lipodystrophy 10.0 LMNA LMNB2
10 muscular dystrophy, congenital, 1b 10.0
11 myopathy, proximal, and ophthalmoplegia 10.0 EMD LMNA
12 emery-dreifuss muscular dystrophy 1, x-linked 10.0 EMD LMNA
13 autosomal dominant limb-girdle muscular dystrophy 10.0 EMD LMNA
14 familial partial lipodystrophy 10.0 EMD LMNA
15 myofibrillar myopathy 10.0 DES LMNA
16 muscle tissue disease 9.9 EMD LMNA
17 muscular dystrophy, congenital, lmna-related 9.9 EMD LMNA
18 congenital fiber-type disproportion 9.9 EMD LMNA
19 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.9 LMNA LMNB1
20 aging 9.8 LMNA SNCA
21 neuromuscular disease 9.8 DES EMD LMNA
22 atrial standstill 1 9.8 DES EMD LMNA
23 arrhythmogenic right ventricular cardiomyopathy 9.8 DES EMD LMNA
24 hutchinson-gilford progeria syndrome 9.7 LMNA LMNB1
25 reynolds syndrome 9.6 LMNA LMNB1 LMNB2
26 emery-dreifuss muscular dystrophy 9.6 EMD LMNA LMNB1
27 pelger-huet anomaly 9.3 EMD LMNA LMNB1 LMNB2
28 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.3 EMD LMNA LMNB1 LMNB2

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

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1h according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.23 LMNA LMNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.23 LMNA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.23 LMNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.23 LMNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.23 LMNB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.23 LMNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.23 LMNA

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 DES EMD LMNA LMNB1 LMNB2 SNCA
2 homeostasis/metabolism MP:0005376 9.43 DES EMD LMNA LMNB1 LMNB2 SNCA
3 muscle MP:0005369 9.02 DES EMD LMNA LMNB1 LMNB2

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

Publications for Cardiomyopathy, Dilated, 1h

Articles related to Cardiomyopathy, Dilated, 1h:

# Title Authors Year
1
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1. ( 16156025 )
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

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 EMD LMNA LMNB1
2
Show member pathways
12.37 LMNA LMNB1 LMNB2
3
Show member pathways
12.28 EMD LMNA LMNB1
4
Show member pathways
12.17 LMNA LMNB1 LMNB2 SNCA
5
Show member pathways
12.09 LMNA LMNB1 LMNB2
6
Show member pathways
12.01 DES EMD LMNA
7
Show member pathways
11.84 LMNA LMNB1 LMNB2
8 11.81 LMNA LMNB1 LMNB2
9
Show member pathways
11.74 DES EMD LMNA
10
Show member pathways
11.59 LMNA LMNB1
11 11.51 DES EMD LMNA LMNB1 LMNB2
12
Show member pathways
11.02 LMNA LMNB1 LMNB2
13
Show member pathways
10.65 EMD LMNA LMNB1

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 nuclear membrane GO:0031965 9.56 EMD LMNA LMNB1 LMNB2
2 nuclear inner membrane GO:0005637 9.5 EMD LMNB1 LMNB2
3 intermediate filament GO:0005882 9.46 DES LMNA LMNB1 LMNB2
4 nuclear outer membrane GO:0005640 9.37 EMD SNCA
5 nuclear envelope GO:0005635 9.26 EMD LMNA LMNB1 LMNB2
6 lamin filament GO:0005638 8.8 LMNB2 LMNA LMNB1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.96 DES EMD
2 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

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

# Name GO ID Score Top Affiliating Genes
1 beta-tubulin binding GO:0048487 9.16 EMD SNCA
2 structural molecule activity GO:0005198 8.96 LMNB1 LMNB2
3 phospholipase binding GO:0043274 8.62 LMNB1 SNCA

Sources for Cardiomyopathy, Dilated, 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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