MCID: CRD069
MIFTS: 27

Cardiomyopathy, Dilated, 1h

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1h

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1h:

Name: Cardiomyopathy, Dilated, 1h 57 13 73
Dilated Cardiomyopathy 1h 12 15
Cmd1h 57 12
Cardiomyopathy, Dilated, with Conduction Defect 57
Dilated Cardiomyopathy with Conduction Defect 12

Classifications:



External Ids:

OMIM 57 604288
Disease Ontology 12 DOID:0110429
ICD10 33 I42.0
UMLS 73 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, 1e and cardiomyopathy, dilated, 1a. An important gene associated with Cardiomyopathy, Dilated, 1h is CMD1H (Cardiomyopathy, Dilated 1H (Autosomal Dominant)), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM).

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
Dmd-Related Dilated 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 17)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 32.0 LMNA SNCA
2 cardiomyopathy, dilated, 1a 31.3 EMD LMNA SNCA
3 myopathy, myofibrillar, 1 11.4
4 emerinopathy 9.6 EMD LMNA
5 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 EMD LMNA
6 myopathy, proximal, and ophthalmoplegia 9.6 EMD LMNA
7 muscular dystrophy, limb-girdle, type 1b 9.5 EMD LMNA
8 pelger-huet anomaly 9.5 EMD LMNA
9 autosomal dominant limb-girdle muscular dystrophy 9.5 EMD LMNA
10 familial partial lipodystrophy 9.5 EMD LMNA
11 aging 9.5 LMNA SNCA
12 muscular dystrophy, congenital, lmna-related 9.4 EMD LMNA
13 emery-dreifuss muscular dystrophy 9.4 EMD LMNA
14 muscle tissue disease 9.4 EMD LMNA
15 congenital fiber-type disproportion 9.3 EMD LMNA
16 atrial standstill 1 9.2 EMD LMNA
17 arrhythmogenic right ventricular cardiomyopathy 8.9 EMD LMNA

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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 EMD LMNA
2
Show member pathways
11.19 EMD LMNA
3
Show member pathways
10.14 EMD LMNA

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 9.16 EMD LMNA
2 nuclear envelope GO:0005635 8.96 EMD LMNA
3 nuclear outer membrane GO:0005640 8.62 EMD SNCA

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

# Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 8.96 EMD LMNA
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 8.62 EMD SNCA

Sources for Cardiomyopathy, Dilated, 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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