CMD1H
MCID: CRD069
MIFTS: 29

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 dilated cardiomyopathy. 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 bone, and related phenotype is muscle.

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 38)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 30.6 SYNE3 SYNE1 SUN1 LMNB2 LMNB1 LMNA
2 dilated cardiomyopathy 29.0 SYNE1 SUN2 LMNA EMD DNAJC19
3 muscular dystrophy 28.3 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
4 muscular dystrophy, congenital, lmna-related 27.1 SYNE3 SYNE1 SUN2 SUN1 LMNB2 LMNB1
5 cardiomyopathy, dilated, 1e 11.8
6 myopathy, myofibrillar, 1 11.7
7 first-degree atrioventricular block 10.2 LMNA EMD
8 atrial standstill 1 10.2
9 osteopoikilosis 10.1 LMNA EMD
10 autosomal dominant limb-girdle muscular dystrophy 10.1 LMNA EMD
11 muscular dystrophy, congenital merosin-deficient, 1a 10.0 LMNA EMD
12 myopathy 10.0
13 congestive heart failure 10.0
14 limb-girdle muscular dystrophy 10.0
15 lama2-related muscular dystrophy 10.0
16 nonencapsulated sclerosing carcinoma 9.9 LMNB2 LMNB1 LMNA
17 myopathy, x-linked, with postural muscle atrophy 9.9 SUN2 EMD
18 x-linked emery-dreifuss muscular dystrophy 9.9 SYNE1 LMNA EMD
19 familial partial lipodystrophy 9.8 LMNA EMD
20 emerinopathy 9.8 SUN2 LMNA EMD
21 lipodystrophy, familial partial, type 5 9.7 LMNB2 LMNB1 LMNA EMD
22 muscle tissue disease 9.7 LMNB2 LMNB1 LMNA EMD
23 reynolds syndrome 9.5 SUN2 LMNB2 LMNB1 LMNA
24 laminopathy 9.5 SUN2 SUN1 LMNA EMD
25 neuromuscular disease 9.5 SUN2 LMNA EMD
26 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.5 SYNE1 SUN2 LMNA EMD
27 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.4 SYNE1 LMNB2 LMNB1 LMNA EMD
28 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.2 SYNE1 SUN2 SUN1 LMNA EMD
29 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.2 SYNE1 SUN2 SUN1 LMNA EMD
30 charcot-marie-tooth disease, axonal, type 2b1 9.1 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
31 pelger-huet anomaly 9.1 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
32 charcot-marie-tooth disease 9.0 SUN2 SUN1 LMNB2 LMNB1 LMNA EMD
33 emery-dreifuss muscular dystrophy 1, x-linked 8.9 SYNE1 SUN2 SUN1 LMNB1 LMNA EMD
34 emery-dreifuss muscular dystrophy 8.7 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
35 muscular disease 8.6 SYNE1 SUN2 SUN1 LMNB2 LMNB1 LMNA
36 emery-dreifuss muscular dystrophy 3, autosomal recessive 8.1 SYNE3 SYNE1 SUN2 SUN1 LMNB2 LMNB1
37 hutchinson-gilford progeria syndrome 8.1 SYNE3 SYNE1 SUN2 SUN1 LMNB2 LMNB1
38 emery-dreifuss muscular dystrophy 2, autosomal dominant 7.7 ZNF239 SYNE3 SYNE1 SUN2 SUN1 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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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, Bone

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 10.13 ZNF239 SYNE3 SYNE1 SUN2 SUN1 NEMP1
2 intermediate filament GO:0005882 9.63 LMNB2 LMNB1 LMNA
3 nuclear inner membrane GO:0005637 9.63 SUN2 SUN1 NEMP1 LMNB2 LMNB1 EMD
4 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.56 SYNE3 SYNE1 SUN2 SUN1
5 nuclear membrane GO:0031965 9.56 SYNE3 SYNE1 SUN2 SUN1 LMNB2 LMNB1
6 nuclear outer membrane GO:0005640 9.54 SYNE3 SYNE1 EMD
7 lamin filament GO:0005638 9.5 LMNB2 LMNB1 LMNA
8 integral component of nuclear inner membrane GO:0005639 9.4 SUN2 SUN1
9 nuclear envelope GO:0005635 9.28 SYNE3 SYNE1 SUN2 SUN1 NEMP1 LMNB2

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 9.43 SYNE1 LMNA
2 centrosome localization GO:0051642 9.4 SUN2 SUN1
3 nuclear migration GO:0007097 9.37 SYNE3 SUN2
4 nuclear envelope organization GO:0006998 9.33 SUN2 SUN1 LMNA
5 mitotic nuclear envelope reassembly GO:0007084 9.32 LMNA EMD
6 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.26 SUN2 SUN1
7 nuclear matrix anchoring at nuclear membrane GO:0090292 9.13 SYNE1 SUN2 SUN1
8 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SYNE3 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 8.8 SYNE1 SUN2 SUN1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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