CMD1P
MCID: CRD104
MIFTS: 28

Cardiomyopathy, Dilated, 1p (CMD1P)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1p

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1p:

Name: Cardiomyopathy, Dilated, 1p 58 13 74
Dilated Cardiomyopathy 1p 12 30 6 15
Cmd1p 58 12 76
Cardiomyopathy, Dilated, Type 1p 41
Cardiomyopathy, Dilated 1p 76

Characteristics:

HPO:

33
cardiomyopathy, dilated, 1p:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110439
OMIM 58 609909
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1835928
UMLS 74 C1835928

Summaries for Cardiomyopathy, Dilated, 1p

UniProtKB/Swiss-Prot : 76 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 hypotrichosis 3. An important gene associated with Cardiomyopathy, Dilated, 1p is PLN (Phospholamban), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include heart, and related phenotypes are congestive heart failure and dilated cardiomyopathy

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

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1p

Human phenotypes related to Cardiomyopathy, Dilated, 1p:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 reduced systolic function 33 HP:0006673
4 ventricular arrhythmia 33 HP:0004308

Clinical features from OMIM:

609909

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 30 PLN

Anatomical Context for Cardiomyopathy, Dilated, 1p

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1p

Variations for Cardiomyopathy, Dilated, 1p

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

76
# 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 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLN NM_002667.4(PLN): c.-236C> G single nucleotide variant Uncertain significance rs188578681 GRCh37 Chromosome 6, 118869417: 118869417
2 PLN NM_002667.4(PLN): c.-236C> G single nucleotide variant Uncertain significance rs188578681 GRCh38 Chromosome 6, 118548254: 118548254
3 PLN NM_002667.4(PLN): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs111033559 GRCh37 Chromosome 6, 118880109: 118880109
4 PLN NM_002667.4(PLN): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs111033559 GRCh38 Chromosome 6, 118558946: 118558946
5 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
6 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
7 PLN PLN, -36A-C single nucleotide variant Pathogenic
8 PLN NM_002667.4(PLN): c.27C> T (p.Arg9=) single nucleotide variant Benign/Likely benign rs145623013 GRCh37 Chromosome 6, 118880111: 118880111
9 PLN NM_002667.4(PLN): c.27C> T (p.Arg9=) single nucleotide variant Benign/Likely benign rs145623013 GRCh38 Chromosome 6, 118558948: 118558948
10 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
11 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh38 Chromosome 6, 118558961: 118558963
12 PLN NM_002667.4(PLN): c.34A> G (p.Ile12Val) single nucleotide variant Uncertain significance rs749571694 GRCh37 Chromosome 6, 118880118: 118880118
13 PLN NM_002667.4(PLN): c.34A> G (p.Ile12Val) single nucleotide variant Uncertain significance rs749571694 GRCh38 Chromosome 6, 118558955: 118558955
14 PLN NM_002667.4(PLN): c.-97-?_*1344+?del deletion Pathogenic
15 PLN NM_002667.4(PLN): c.-97-?_*1344+?dup1600 duplication Uncertain significance GRCh37 Chromosome 6, 118879988: 118881587
16 PLN NM_002667.4(PLN): c.-97-?_*1344+?dup1600 duplication Uncertain significance GRCh38 Chromosome 6, 118558825: 118560424
17 PLN NM_002667.4(PLN): c.-211-30G> T single nucleotide variant Uncertain significance rs551982604 GRCh37 Chromosome 6, 118869412: 118869412
18 PLN NM_002667.4(PLN): c.-211-30G> T single nucleotide variant Uncertain significance rs551982604 GRCh38 Chromosome 6, 118548249: 118548249
19 PLN NM_002667.4(PLN): c.22A> C (p.Thr8Pro) single nucleotide variant Uncertain significance rs1060502977 GRCh37 Chromosome 6, 118880106: 118880106
20 PLN NM_002667.4(PLN): c.22A> C (p.Thr8Pro) single nucleotide variant Uncertain significance rs1060502977 GRCh38 Chromosome 6, 118558943: 118558943
21 PLN NM_002667.4(PLN): c.74G> A (p.Arg25His) single nucleotide variant Uncertain significance rs1004405095 GRCh37 Chromosome 6, 118880158: 118880158
22 PLN NM_002667.4(PLN): c.74G> A (p.Arg25His) single nucleotide variant Uncertain significance rs1004405095 GRCh38 Chromosome 6, 118558995: 118558995
23 PLN NC_000006.12: g.(?_118548219)_(118559100_?)dup duplication Uncertain significance GRCh37 Chromosome 6, 118869382: 118880263
24 PLN NC_000006.12: g.(?_118548219)_(118559100_?)dup duplication Uncertain significance GRCh38 Chromosome 6, 118548219: 118559100
25 PLN NM_002667.4(PLN): c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu) duplication Uncertain significance rs1554219865 GRCh37 Chromosome 6, 118880216: 118880236
26 PLN NM_002667.4(PLN): c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu) duplication Uncertain significance rs1554219865 GRCh38 Chromosome 6, 118559053: 118559073
27 PLN NM_002667.4(PLN): c.29C> T (p.Ser10Leu) single nucleotide variant Uncertain significance rs1554219846 GRCh38 Chromosome 6, 118558950: 118558950
28 PLN NM_002667.4(PLN): c.29C> T (p.Ser10Leu) single nucleotide variant Uncertain significance rs1554219846 GRCh37 Chromosome 6, 118880113: 118880113
29 PLN NM_002667.4(PLN): c.41G> T (p.Arg14Ile) single nucleotide variant Uncertain significance rs151112761 GRCh38 Chromosome 6, 118558962: 118558962
30 PLN NM_002667.4(PLN): c.41G> T (p.Arg14Ile) single nucleotide variant Uncertain significance rs151112761 GRCh37 Chromosome 6, 118880125: 118880125
31 PLN NM_002667.4(PLN): c.113T> C (p.Ile38Thr) single nucleotide variant Uncertain significance rs1554219862 GRCh37 Chromosome 6, 118880197: 118880197
32 PLN NM_002667.4(PLN): c.113T> C (p.Ile38Thr) single nucleotide variant Uncertain significance rs1554219862 GRCh38 Chromosome 6, 118559034: 118559034
33 PLN NM_002667.4(PLN): c.53T> C (p.Ile18Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 118558974: 118558974
34 PLN NM_002667.4(PLN): c.53T> C (p.Ile18Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 118880137: 118880137

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:

# Super pathways Score Top Affiliating Genes
1 10.11 CDC42 CSNK2A1

GO Terms for Cardiomyopathy, Dilated, 1p

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 AKAP9 CDC42 ERC2 PCNT TUBGCP2 TUBGCP3
2 centrosome GO:0005813 9.55 AKAP9 CDC42 PCNT TUBGCP2 TUBGCP3
3 gamma-tubulin complex GO:0000930 9.37 TUBGCP2 TUBGCP3
4 equatorial microtubule organizing center GO:0000923 9.26 TUBGCP2 TUBGCP3
5 microtubule organizing center GO:0005815 9.02 AKAP9 CDC42 PCNT TUBGCP2 TUBGCP3
6 gamma-tubulin small complex GO:0008275 8.96 TUBGCP2 TUBGCP3
7 cytoplasm GO:0005737 10.1 AKAP9 ARF3 CDC42 ERC2 FOLH1 MYO5A

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic microtubule organization GO:0031122 9.32 TUBGCP2 TUBGCP3
2 regulation of Golgi organization GO:1903358 9.16 AKAP9 MYO5A
3 positive regulation of intracellular protein transport GO:0090316 8.96 PCNT
4 microtubule nucleation by interphase microtubule organizing center GO:0051415 8.96 TUBGCP2 TUBGCP3
5 microtubule nucleation GO:0007020 8.8 AKAP9 TUBGCP2 TUBGCP3

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 CDC42 CSNK2A1 MYO5A PLN SDF4
2 gamma-tubulin binding GO:0043015 8.96 TUBGCP2 TUBGCP3
3 microtubule minus-end binding GO:0051011 8.62 TUBGCP2 TUBGCP3

Sources for Cardiomyopathy, Dilated, 1p

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18 ExPASy
20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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