CMD1H
MCID: CRD069
MIFTS: 31

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 57 13 72
Dilated Cardiomyopathy 1h 12 15
Cardiomyopathy, Dilated, with Conduction Defect 57
Dilated Cardiomyopathy with Conduction Defect 12
Cmd1h 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0110429
ICD10 33 I42.0
UMLS 72 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 Chks in Checkpoint Regulation and DREAM Repression and Dynorphin Expression. Affiliated tissues include heart, and related phenotypes are cellular and homeostasis/metabolism

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
Cardiomyopathy Due to Anthracyclines

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 32.1 SNCA LMNA DES
2 cardiomyopathy, dilated, 1a 31.8 SNCA LMNA LAMA2 EMD
3 atrial standstill 1 30.3 LMNA EMD DES
4 muscular dystrophy, congenital, lmna-related 30.1 LMNA LAMA2 EMD
5 muscular dystrophy 29.9 LMNA LAMA2 EMD DES
6 dilated cardiomyopathy 29.4 LMNA LAMA2 EMD DNAJC19 DES
7 myopathy, myofibrillar, 1 11.7
8 emerinopathy 10.4 LMNA EMD
9 myopathy, proximal, and ophthalmoplegia 10.4 LMNA EMD
10 emery-dreifuss muscular dystrophy 1, x-linked 10.4 LMNA EMD
11 autosomal dominant limb-girdle muscular dystrophy 10.4 LMNA EMD
12 muscular dystrophy, congenital merosin-deficient, 1a 10.3 LMNA LAMA2
13 proximal spinal muscular atrophy 10.3 LMNA DES
14 familial partial lipodystrophy 10.3 LMNA EMD
15 myopathy, x-linked, with excessive autophagy 10.2 LAMA2 EMD
16 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 LMNB1 LMNA
17 muscular disease 10.1 LMNA LAMA2 EMD
18 muscle tissue disease 10.1 LMNA LAMA2 EMD
19 muscular dystrophy-dystroglycanopathy , type b, 5 10.1 LMNA LAMA2
20 myopathy 10.0
21 congestive heart failure 10.0
22 limb-girdle muscular dystrophy 10.0
23 lama2-related muscular dystrophy 10.0
24 arrhythmogenic right ventricular cardiomyopathy 10.0 LMNA EMD DES
25 emery-dreifuss muscular dystrophy 9.9 LMNB1 LMNA EMD
26 acquired generalized lipodystrophy 9.9 LMNB2 LMNA
27 ullrich congenital muscular dystrophy 1 9.8 LMNA LAMA2
28 neuromuscular disease 9.7 LMNA LAMA2 EMD DES
29 3-methylglutaconic aciduria, type v 9.7 SNCA DNAJC19
30 reynolds syndrome 9.7 LMNB2 LMNB1 LMNA
31 pelger-huet anomaly 9.4 LMNB2 LMNB1 LMNA EMD
32 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.4 LMNB2 LMNB1 LMNA EMD

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 BMP4 DES EMD LAMA2 LMNA LMNB1
2 homeostasis/metabolism MP:0005376 9.81 BMP4 DES EMD LAMA2 LMNA LMNB1
3 mortality/aging MP:0010768 9.56 BMP4 DES LAMA2 LMNA LMNB1 LMNB2
4 muscle MP:0005369 9.23 BMP4 DES EMD LAMA2 LMNA LMNB1

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:

41
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. 8
10486326 1999
2
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect]. 38
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 SNCA LMNB2 LMNB1 LMNA
2
Show member pathways
12.27 LMNB2 LMNB1 LMNA BMP4
3
Show member pathways
11.89 LMNB2 LMNB1 LMNA
4 11.88 LMNB2 LMNB1 LMNA
5
Show member pathways
11.81 LMNA LAMA2 EMD DES
6
Show member pathways
11.73 LMNA LAMA2 EMD DES
7 11.51 LMNB2 LMNB1 LMNA EMD DES
8 11.24 SMAD6 BMP4
9
Show member pathways
11.12 LMNB2 LMNB1 LMNA
10
Show member pathways
10.65 LMNB1 LMNA EMD

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 9.62 LMNB2 LMNB1 LMNA EMD
2 intermediate filament GO:0005882 9.46 LMNB2 LMNB1 LMNA DES
3 nuclear inner membrane GO:0005637 9.43 LMNB2 LMNB1 EMD
4 nuclear outer membrane GO:0005640 9.37 SNCA EMD
5 nuclear envelope GO:0005635 9.26 LMNB2 LMNB1 LMNA EMD
6 lamin filament GO:0005638 8.8 LMNB2 LMNB1 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to growth factor stimulus GO:0071363 9.48 EMD BMP4
2 ureteric bud development GO:0001657 9.46 SMAD6 BMP4
3 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.43 LMNA BMP4
4 protein localization to nucleus GO:0034504 9.4 LMNA BMP4
5 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.37 SMAD6 BMP4
6 outflow tract septum morphogenesis GO:0003148 9.32 SMAD6 BMP4
7 coronary vasculature development GO:0060976 9.26 SMAD6 BMP4
8 aortic valve morphogenesis GO:0003180 9.16 SMAD6 BMP4
9 pulmonary valve morphogenesis GO:0003184 8.96 SMAD6 BMP4
10 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA EMD

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 SNCA EMD
2 phospholipase binding GO:0043274 8.96 SNCA LMNB1
3 structural molecule activity GO:0005198 8.62 LMNB1 LAMA2

Sources for Cardiomyopathy, Dilated, 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....