MCID: CRD104
MIFTS: 38

Cardiomyopathy, Dilated, 1p

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1p

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1p:

Name: Cardiomyopathy, Dilated, 1p 57 13 73
Dilated Cardiomyopathy 1p 12 29 6 15
Cmd1p 57 12 75
Cardiomyopathy, Dilated, Type 1p 40
Cardiomyopathy, Dilated 1p 75

Characteristics:

HPO:

32
cardiomyopathy, dilated, 1p:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609909
Disease Ontology 12 DOID:0110439
ICD10 33 I42.0
MedGen 42 C1835928
MeSH 44 D002311
UMLS 73 C1835928

Summaries for Cardiomyopathy, Dilated, 1p

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1P: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1p, also known as dilated cardiomyopathy 1p, is related to acute dacryocystitis and external ear disease. An important gene associated with Cardiomyopathy, Dilated, 1p is PLN (Phospholamban), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and DAG and IP3 signaling. Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and ventricular arrhythmia

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the PLN gene on chromosome 6q22.

Description from OMIM: 609909

Related Diseases for Cardiomyopathy, Dilated, 1p

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, 1p via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 acute dacryocystitis 10.5 CALM1 CALM2 CALM3
2 external ear disease 10.5 CALM1 CALM2 CALM3
3 long qt syndrome 15 10.5 CALM1 CALM2 CALM3
4 otitis externa 10.5 CALM1 CALM2 CALM3
5 otomycosis 10.5 CALM1 CALM2 CALM3
6 spontaneous ocular nystagmus 10.5 CALM1 CALM2 CALM3
7 sporotrichosis 10.4 CALM1 CALM2 CALM3
8 deafness, autosomal recessive 44 10.4 CALM1 CALM2 CALM3
9 dystonia 24 10.4 CALM1 CALM2 CALM3
10 triosephosphate isomerase deficiency 10.4 CALM1 CALM2 CALM3
11 leber congenital amaurosis 2 10.4 CALM1 CALM2 CALM3
12 primary systemic mycosis 10.4 CALM1 CALM2 CALM3
13 clear cell acanthoma 10.3 CALM1 CALM2 CALM3
14 cardiomyopathy, dilated, 1a 10.3 CALM1 CALM2 CALM3
15 deafness, autosomal dominant 2a 10.3 CALM1 CALM2 CALM3
16 primary cutaneous amyloidosis 10.3 CALM1 CALM2 CALM3
17 catecholaminergic polymorphic ventricular tachycardia 10.2 CALM1 CALM2 CALM3
18 cardiac arrest 10.1 CALM1 CALM3 PLN
19 long qt syndrome 1 10.1 AKAP9 CALM1 CALM2 CALM3
20 gestational choriocarcinoma 10.0 CALM1 CALM3
21 long qt syndrome 9.9 AKAP9 CALM1 CALM2 CALM3
22 hypotrichosis 3 9.1 ARF3 RAP2B

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



Diseases related to Cardiomyopathy, Dilated, 1p

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1p

Clinical features from OMIM:

609909

Human phenotypes related to Cardiomyopathy, Dilated, 1p:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 ventricular arrhythmia 32 HP:0004308
3 reduced systolic function 32 HP:0006673

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1p

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

Genetic Tests for Cardiomyopathy, Dilated, 1p

Genetic tests related to Cardiomyopathy, Dilated, 1p:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1p 29 PLN

Anatomical Context for Cardiomyopathy, Dilated, 1p

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1p

Variations for Cardiomyopathy, Dilated, 1p

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1p:

75
# Symbol AA change Variation ID SNP ID
1 PLN p.Arg9Cys VAR_025989 rs111033559
2 PLN p.Arg9His VAR_072925 rs754782171
3 PLN p.Arg9Leu VAR_072926

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1p:

6
(show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLN PLN, 3-BP DEL, 39AGA deletion Pathogenic
2 PLN NM_002667.4(PLN): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs111033559 GRCh37 Chromosome 6, 118880109: 118880109
3 PLN NM_002667.4(PLN): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs111033559 GRCh38 Chromosome 6, 118558946: 118558946
4 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
5 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
6 PLN PLN, -36A-C single nucleotide variant Pathogenic
7 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
8 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh38 Chromosome 6, 118558961: 118558963
9 PLN NM_002667.4(PLN): c.-236C> G single nucleotide variant Uncertain significance rs188578681 GRCh37 Chromosome 6, 118869417: 118869417
10 PLN NM_002667.4(PLN): c.-236C> G single nucleotide variant Uncertain significance rs188578681 GRCh38 Chromosome 6, 118548254: 118548254
11 PLN NM_002667.4(PLN): c.34A> G (p.Ile12Val) single nucleotide variant Uncertain significance rs749571694 GRCh37 Chromosome 6, 118880118: 118880118
12 PLN NM_002667.4(PLN): c.34A> G (p.Ile12Val) single nucleotide variant Uncertain significance rs749571694 GRCh38 Chromosome 6, 118558955: 118558955
13 PLN NM_002667.4(PLN): c.-97-?_*1344+?del deletion Pathogenic
14 PLN NM_002667.4(PLN): c.-97-?_*1344+?dup1600 duplication Uncertain significance GRCh37 Chromosome 6, 118879988: 118881587
15 PLN NM_002667.4(PLN): c.-97-?_*1344+?dup1600 duplication Uncertain significance GRCh38 Chromosome 6, 118558825: 118560424
16 PLN NM_002667.4(PLN): c.-211-30G> T single nucleotide variant Uncertain significance rs551982604 GRCh37 Chromosome 6, 118869412: 118869412
17 PLN NM_002667.4(PLN): c.-211-30G> T single nucleotide variant Uncertain significance rs551982604 GRCh38 Chromosome 6, 118548249: 118548249
18 PLN NM_002667.4(PLN): c.22A> C (p.Thr8Pro) single nucleotide variant Uncertain significance rs1060502977 GRCh37 Chromosome 6, 118880106: 118880106
19 PLN NM_002667.4(PLN): c.22A> C (p.Thr8Pro) single nucleotide variant Uncertain significance rs1060502977 GRCh38 Chromosome 6, 118558943: 118558943
20 PLN NM_002667.4(PLN): c.74G> A (p.Arg25His) single nucleotide variant Uncertain significance rs1004405095 GRCh37 Chromosome 6, 118880158: 118880158
21 PLN NM_002667.4(PLN): c.74G> A (p.Arg25His) single nucleotide variant Uncertain significance rs1004405095 GRCh38 Chromosome 6, 118558995: 118558995
22 PLN NC_000006.12: g.(?_118548219)_(118559100_?)dup duplication Uncertain significance GRCh37 Chromosome 6, 118869382: 118880263
23 PLN NC_000006.12: g.(?_118548219)_(118559100_?)dup duplication Uncertain significance GRCh38 Chromosome 6, 118548219: 118559100
24 PLN NM_002667.4(PLN): c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu) duplication Uncertain significance GRCh37 Chromosome 6, 118880216: 118880236
25 PLN NM_002667.4(PLN): c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu) duplication Uncertain significance GRCh38 Chromosome 6, 118559053: 118559073
26 PLN NM_002667.4(PLN): c.29C> T (p.Ser10Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 118558950: 118558950
27 PLN NM_002667.4(PLN): c.29C> T (p.Ser10Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 118880113: 118880113
28 PLN NM_002667.4(PLN): c.41G> T (p.Arg14Ile) single nucleotide variant Uncertain significance rs151112761 GRCh38 Chromosome 6, 118558962: 118558962
29 PLN NM_002667.4(PLN): c.41G> T (p.Arg14Ile) single nucleotide variant Uncertain significance rs151112761 GRCh37 Chromosome 6, 118880125: 118880125
30 PLN NM_002667.4(PLN): c.113T> C (p.Ile38Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 118880197: 118880197
31 PLN NM_002667.4(PLN): c.113T> C (p.Ile38Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 118559034: 118559034

Expression for Cardiomyopathy, Dilated, 1p

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

Pathways for Cardiomyopathy, Dilated, 1p

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

(show top 50) (show all 72)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 CALM1 CALM2 CALM3 CSNK2A1 TUBGCP2 TUBGCP3
2
Show member pathways
13.03 AKAP9 CALM1 CALM2 CALM3 CDC42 PLN
3
Show member pathways
12.96 CALM1 CALM2 CALM3 CDC42 TUBGCP2 TUBGCP3
4
Show member pathways
12.87 CALM1 CALM2 CALM3 CDC42 CSNK2A1
5
Show member pathways
12.8 AKAP9 CALM1 CALM2 CALM3 PLN
6
Show member pathways
12.69 CALM1 CALM2 CALM3 CDC42
7
Show member pathways
12.68 CALM1 CALM2 CALM3 PLN
8
Show member pathways
12.67 CALM1 CALM2 CALM3 CDC42
9
Show member pathways
12.65 CALM1 CALM2 CALM3 CSNK2A1
10
Show member pathways
12.62 CALM1 CALM2 CALM3 CDC42
11
Show member pathways
12.55 CALM1 CALM2 CALM3 CDC42
12
Show member pathways
12.55 CALM1 CALM2 CALM3 CDC42
13
Show member pathways
12.54 CALM1 CALM2 CALM3 CDC42
14
Show member pathways
12.51 CALM1 CALM2 CALM3 PLN
15
Show member pathways
12.5 CALM1 CALM2 CALM3 PLN
16
Show member pathways
12.48 CALM1 CALM2 CALM3 CDC42
17
Show member pathways
12.46 CALM1 CALM2 CALM3 CSNK2A1 PLN
18
Show member pathways
12.41 CALM1 CALM2 CALM3 CDC42
19
Show member pathways
12.39 CALM1 CALM2 CALM3 CDC42
20
Show member pathways
12.35 CALM1 CALM2 CALM3 CDC42
21 12.32 AKAP9 CALM1 CALM2 CALM3
22
Show member pathways
12.29 CALM1 CALM2 CALM3 CDC42 MYO5A
23
Show member pathways
12.28 CALM1 CALM2 CALM3 CDC42
24
Show member pathways
12.24 CALM1 CALM2 CALM3 PLN
25
Show member pathways
12.23 CALM1 CALM2 CALM3 CDC42 CSNK2A1
26
Show member pathways
12.2 CALM1 CALM2 CALM3 PLN
27
Show member pathways
12.2 AKAP9 CALM1 CALM2 CALM3
28
Show member pathways
12.15 CALM1 CALM2 CALM3 CDC42
29
Show member pathways
12.14 CALM1 CALM2 CALM3
30
Show member pathways
12.14 CALM1 CALM2 CALM3
31
Show member pathways
12.12 CALM1 CALM2 CALM3
32 12.12 CALM1 CALM2 CALM3
33
Show member pathways
12.1 CALM1 CALM2 CALM3
34
Show member pathways
12.07 CALM1 CALM2 CALM3 CDC42
35 12.05 CALM1 CALM2 CALM3
36 12.04 CALM1 CALM2 CALM3
37
Show member pathways
11.98 CALM1 CALM2 CALM3
38
Show member pathways
11.97 CALM1 CALM2 CALM3
39
Show member pathways
11.94 CALM1 CALM2 CALM3
40
Show member pathways
11.91 CALM1 CALM2 CALM3
41 11.89 CALM1 CALM2 CALM3
42 11.87 CALM1 CALM2 CALM3
43
Show member pathways
11.86 CALM1 CALM2 CALM3
44
Show member pathways
11.83 CALM1 CALM2 CALM3
45 11.83 CALM1 CALM2 CALM3 CDC42
46
Show member pathways
11.76 CALM1 CALM2 CALM3
47
Show member pathways
11.75 CALM1 CALM2 CALM3
48
Show member pathways
11.74 CALM1 CALM2 CALM3 CDC42
49
Show member pathways
11.73 CALM1 CALM2 CALM3
50 11.73 CALM1 CALM2 CALM3

GO Terms for Cardiomyopathy, Dilated, 1p

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 AKAP9 CALM1 CALM2 CALM3 CDC42 ERC2
2 microtubule organizing center GO:0005815 9.88 AKAP9 CDC42 PCNT TUBGCP2 TUBGCP3
3 spindle GO:0005819 9.77 CALM1 CALM2 CALM3 CDC42 TUBGCP3
4 sarcomere GO:0030017 9.67 CALM1 CALM2 CALM3
5 spindle microtubule GO:0005876 9.63 CALM1 CALM2 CALM3
6 calcium channel complex GO:0034704 9.58 CALM1 CALM2 CALM3
7 gamma-tubulin complex GO:0000930 9.56 TUBGCP2 TUBGCP3
8 spindle pole GO:0000922 9.55 CALM1 CALM2 CALM3 TUBGCP2 TUBGCP3
9 spindle pole body GO:0005816 9.52 TUBGCP2 TUBGCP3
10 equatorial microtubule organizing center GO:0000923 9.51 TUBGCP2 TUBGCP3
11 catalytic complex GO:1902494 9.5 CALM1 CALM2 CALM3
12 gamma-tubulin small complex GO:0008275 9.43 TUBGCP2 TUBGCP3
13 vesicle GO:0031982 9.43 CALM1 CALM2 CALM3 CDC42 MYO5A PLN
14 centrosome GO:0005813 9.23 AKAP9 CALM1 CALM2 CALM3 CDC42 PCNT
15 cytoplasm GO:0005737 10.35 AKAP9 ARF3 CALM1 CALM2 CALM3 CDC42
16 extracellular exosome GO:0070062 10.2 ARF3 CALM1 CALM2 CALM3 CDC42 FOLH1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.78 CALM1 CALM2 CALM3
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.77 CALM1 CALM2 CALM3
3 regulation of cytokinesis GO:0032465 9.76 CALM1 CALM2 CALM3
4 regulation of heart rate GO:0002027 9.75 CALM1 CALM2 CALM3
5 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.74 CALM1 CALM2 CALM3
6 positive regulation of protein dephosphorylation GO:0035307 9.73 CALM1 CALM2 CALM3
7 regulation of cardiac muscle contraction GO:0055117 9.72 CALM1 CALM2 CALM3
8 microtubule nucleation GO:0007020 9.71 AKAP9 TUBGCP2 TUBGCP3
9 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.7 CALM1 CALM2 CALM3
10 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.69 CALM1 CALM2 CALM3
11 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.67 CALM1 CALM2 CALM3
12 substantia nigra development GO:0021762 9.67 CALM1 CALM2 CALM3 CDC42
13 detection of calcium ion GO:0005513 9.65 CALM1 CALM2 CALM3
14 centrosome duplication GO:0051298 9.63 TUBGCP2 TUBGCP3
15 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.63 CALM1 CALM2 CALM3
16 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 CALM1 PLN
17 regulation of Golgi organization GO:1903358 9.61 AKAP9 MYO5A
18 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.61 CALM1 CALM2 CALM3
19 microtubule nucleation by interphase microtubule organizing center GO:0051415 9.6 TUBGCP2 TUBGCP3
20 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.58 CALM1 CALM2 CALM3
21 positive regulation of protein autophosphorylation GO:0031954 9.56 CALM1 CALM2 CALM3 RAP2B
22 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.5 CALM1 CALM2 CALM3
23 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.46 CALM1 CALM2 CALM3 PLN
24 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.26 CALM1 CALM2 CALM3 PLN
25 positive regulation of cyclic nucleotide metabolic process GO:0030801 8.8 CALM1 CALM2 CALM3
26 phosphorylation GO:0016310 10.02 AKAP9 CALM1 CALM2 CALM3 CSNK2A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.91 CALM1 CALM2 CALM3 MYO5A SDF4
2 kinase activity GO:0016301 9.89 AKAP9 CALM1 CALM2 CALM3 CSNK2A1
3 protein domain specific binding GO:0019904 9.73 CALM1 CALM2 CALM3 RAP2B
4 ion channel binding GO:0044325 9.71 AKAP9 CALM1 CALM2 CALM3
5 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
6 gamma-tubulin binding GO:0043015 9.52 TUBGCP2 TUBGCP3
7 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
8 calcium channel inhibitor activity GO:0019855 9.48 CALM1 CALM2
9 microtubule minus-end binding GO:0051011 9.46 TUBGCP2 TUBGCP3
10 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
11 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
12 disordered domain specific binding GO:0097718 9.26 CALM1 CALM2 CALM3 MYO5A
13 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Cardiomyopathy, Dilated, 1p

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
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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