MCID: PLN012
MIFTS: 12

Pln-Related Dilated Cardiomyopathy malady

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

Aliases & Classifications for Pln-Related Dilated Cardiomyopathy

Aliases & Descriptions for Pln-Related Dilated Cardiomyopathy:

Name: Pln-Related Dilated Cardiomyopathy 24
Cardiomyopathy, Dilated, 1p 69
Dilated Cardiomyopathy 1p 24
Cmd1p 24

Classifications:



Summaries for Pln-Related Dilated Cardiomyopathy

MalaCards based summary : Pln-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, 1p, is related to cardiomyopathy, dilated, 1p and cardiomyopathy, dilated, 1a. An important gene associated with Pln-Related Dilated Cardiomyopathy is PLN (Phospholamban).

Related Diseases for Pln-Related Dilated Cardiomyopathy

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Pln-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1p 11.0
2 cardiomyopathy, dilated, 1a 10.9

Symptoms & Phenotypes for Pln-Related Dilated Cardiomyopathy

Drugs & Therapeutics for Pln-Related Dilated Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Pln-Related Dilated Cardiomyopathy

Genetic Tests for Pln-Related Dilated Cardiomyopathy

Genetic tests related to Pln-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Pln-Related Dilated Cardiomyopathy 24 PLN

Anatomical Context for Pln-Related Dilated Cardiomyopathy

Publications for Pln-Related Dilated Cardiomyopathy

Variations for Pln-Related Dilated Cardiomyopathy

ClinVar genetic disease variations for Pln-Related Dilated Cardiomyopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PLN NM_002667.4(PLN): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs111033559 GRCh37 Chromosome 6, 118880109: 118880109
2 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
3 PLN PLN, 3-BP DEL, 39AGA deletion Pathogenic
4 PLN PLN, -36A-C single nucleotide variant Pathogenic
5 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
6 PLN NM_002667.4(PLN): c.-97-?_*1344+?del deletion Pathogenic

Expression for Pln-Related Dilated Cardiomyopathy

Search GEO for disease gene expression data for Pln-Related Dilated Cardiomyopathy.

Pathways for Pln-Related Dilated Cardiomyopathy

GO Terms for Pln-Related Dilated Cardiomyopathy

Sources for Pln-Related Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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