CMD1P
MCID: CRD104
MIFTS: 33

Cardiomyopathy, Dilated, 1p (CMD1P)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1p

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1p:

Name: Cardiomyopathy, Dilated, 1p 56 13 71
Dilated Cardiomyopathy 1p 12 29 6 15
Cmd1p 56 12 73
Cardiomyopathy, Dilated, Type 1p 39
Cardiomyopathy, Dilated 1p 73

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1p:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110439
OMIM 56 609909
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C1835928
UMLS 71 C1835928

Summaries for Cardiomyopathy, Dilated, 1p

UniProtKB/Swiss-Prot : 73 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 cardiomyopathy, familial hypertrophic, 7 and cardiomyopathy, dilated, 1m. An important gene associated with Cardiomyopathy, Dilated, 1p is PLN (Phospholamban). Affiliated tissues include heart, testes and bone, 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.

More information from OMIM: 609909 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1p

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1p

Human phenotypes related to Cardiomyopathy, Dilated, 1p:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 dilated cardiomyopathy 31 HP:0001644
3 reduced systolic function 31 HP:0006673
4 ventricular arrhythmia 31 HP:0004308

Clinical features from OMIM:

609909

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

26 (showing 17, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 TMED2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.64 PMM1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.64 PMM1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.64 DBNL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.64 DBNL TMED2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.64 PMM1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.64 TMED2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 PMM1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.64 DBNL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 PMM1 TMED2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.64 TMED2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.64 TMED2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.64 TMED2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.64 PMM1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 DBNL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.64 PMM1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.64 DBNL PMM1 TMED2

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:

40
Heart, Testes, Bone

Publications for Cardiomyopathy, Dilated, 1p

Articles related to Cardiomyopathy, Dilated, 1p:

(showing 19, show less)
# Title Authors PMID Year
1
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. 56 6
18241046 2008
2
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 56 6
16432188 2006
3
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 56 6
12639993 2003
4
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 56 6
12610310 2003
5
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 6
21282613 2011
6
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 6
21167350 2011
7
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 6
17655857 2007
8
Dilated Cardiomyopathy Overview 6
20301486 2007
9
Self-Redirection of Metabolic Flux Toward Squalene and Ethanol Pathways by Engineered Yeast. 61
32024107 2020
10
Interactions between the budding yeast IQGAP homologue Iqg1p and its targets revealed by a split-EGFP bimolecular fluorescence complementation assay. 61
18675924 2008
11
Microautophagic vacuole invagination requires calmodulin in a Ca2+-independent function. 61
16055436 2005
12
Genetic and biochemical interactions between the Arp2/3 complex, Cmd1p, casein kinase II, and Tub4p in yeast. 61
14554195 2003
13
Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex. 61
12221128 2002
14
Reconstitution and characterization of budding yeast gamma-tubulin complex. 61
11950928 2002
15
Functional interactions between the p35 subunit of the Arp2/3 complex and calmodulin in yeast. 61
10749918 2000
16
The multiple roles of Cyk1p in the assembly and function of the actomyosin ring in budding yeast. 61
9950677 1999
17
Identification and characterization of the KlCMD1 gene encoding Kluyveromyces lactis calmodulin. 61
9818725 1998
18
Distinct functions of calmodulin are required for the uptake step of receptor-mediated endocytosis in yeast: the type I myosin Myo5p is one of the calmodulin targets. 61
9450989 1998
19
Calmodulin localizes to the spindle pole body of Schizosaccharomyces pombe and performs an essential function in chromosome segregation. 61
9264467 1997

Variations for Cardiomyopathy, Dilated, 1p

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

6 (showing 19, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLN PLN, -36A-CSNV Pathogenic 29838
2 PLN NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del)short repeat Pathogenic 44580 rs397516784 6:118880120-118880122 6:118558957-118558959
3 PLN NM_002667.4(PLN):c.-97-?_*1344+?deldeletion Pathogenic 239214
4 PLN NM_002667.5(PLN):c.25C>T (p.Arg9Cys)SNV Pathogenic 13636 rs111033559 6:118880109-118880109 6:118558946-118558946
5 PLN NC_000006.11:g.(?_118869224)_(118880253_?)deldeletion Pathogenic 657898 6:118869224-118880253 6:118548061-118559090
6 PLN NM_002667.5(PLN):c.116T>G (p.Leu39Ter)SNV Pathogenic/Likely pathogenic 13637 rs111033560 6:118880200-118880200 6:118559037-118559037
7 PLN NM_001042475.3(CEP85L):c.1020+17275G>CSNV Uncertain significance 220851 rs188578681 6:118869417-118869417 6:118548254-118548254
8 PLN NM_002667.5(PLN):c.34A>G (p.Ile12Val)SNV Uncertain significance 234806 rs749571694 6:118880118-118880118 6:118558955-118558955
9 PLN NC_000006.11:g.(?_118869224)_(118880253_?)dupduplication Uncertain significance 641547 6:118869224-118880253 6:118548061-118559090
10 PLN NM_002667.4(PLN):c.-97-?_*1344+?dup1600duplication Uncertain significance 239215 6:118879988-118881587 6:118558825-118560424
11 PLN NM_001042475.3(CEP85L):c.1020+17280C>ASNV Uncertain significance 239212 rs551982604 6:118869412-118869412 6:118548249-118548249
12 PLN NM_002667.5(PLN):c.22A>C (p.Thr8Pro)SNV Uncertain significance 410617 rs1060502977 6:118880106-118880106 6:118558943-118558943
13 PLN NM_002667.5(PLN):c.74G>A (p.Arg25His)SNV Uncertain significance 410616 rs1004405095 6:118880158-118880158 6:118558995-118558995
14 PLN NC_000006.11:g.(?_118869382)_(118880263_?)dupduplication Uncertain significance 464267 6:118869382-118880263 6:118548219-118559100
15 PLN NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup)duplication Uncertain significance 464268 rs1554219865 6:118880211-118880212 6:118559048-118559049
16 PLN NM_002667.5(PLN):c.29C>T (p.Ser10Leu)SNV Uncertain significance 464269 rs1554219846 6:118880113-118880113 6:118558950-118558950
17 PLN NM_002667.5(PLN):c.41G>T (p.Arg14Ile)SNV Uncertain significance 464270 rs151112761 6:118880125-118880125 6:118558962-118558962
18 PLN NM_002667.5(PLN):c.113T>C (p.Ile38Thr)SNV Uncertain significance 532920 rs1554219862 6:118880197-118880197 6:118559034-118559034
19 PLN NM_002667.5(PLN):c.53T>C (p.Ile18Thr)SNV Uncertain significance 573774 rs1029766634 6:118880137-118880137 6:118558974-118558974

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

73 (showing 3, show less)
# 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

Expression for Cardiomyopathy, Dilated, 1p

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

Pathways for Cardiomyopathy, Dilated, 1p

GO Terms for Cardiomyopathy, Dilated, 1p

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

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.02 TUBGCP3 TUBGCP2 SORBS3 PNPLA4 PMM1 NUP85
2 cell junction GO:0030054 9.67 SORBS3 ERC2 DBNL CDC42SE1
3 gamma-tubulin complex GO:0000930 9.26 TUBGCP3 TUBGCP2
4 cytoskeleton GO:0005856 9.23 TUBGCP3 TUBGCP2 SORBS3 NUP85 ERC2 DBNL
5 equatorial microtubule organizing center GO:0000923 9.16 TUBGCP3 TUBGCP2
6 gamma-tubulin small complex GO:0008275 8.96 TUBGCP3 TUBGCP2

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 spindle assembly GO:0051225 9.32 TUBGCP3 TUBGCP2
2 negative regulation of GTPase activity GO:0034260 9.26 TMED2 CDC42SE1
3 cytoplasmic microtubule organization GO:0031122 9.16 TUBGCP3 TUBGCP2
4 microtubule nucleation GO:0007020 8.96 TUBGCP3 TUBGCP2
5 microtubule nucleation by interphase microtubule organizing center GO:0051415 8.62 TUBGCP3 TUBGCP2

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.96 TUBGCP3 TUBGCP2
2 microtubule minus-end binding GO:0051011 8.62 TUBGCP3 TUBGCP2

Sources for Cardiomyopathy, Dilated, 1p

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
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37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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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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