MCID: LMN001
MIFTS: 15

Lmna-Related Dilated Cardiomyopathy malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Lmna-Related Dilated Cardiomyopathy

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Aliases & Descriptions for Lmna-Related Dilated Cardiomyopathy:

Name: Lmna-Related Dilated Cardiomyopathy 21 22
Cardiomyopathy, Dilated, 1a 22
 
Cmd1a 22


Classifications:



Summaries for Lmna-Related Dilated Cardiomyopathy

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MalaCards based summary: Lmna-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, 1a, is related to cardiomyopathy, dilated, 1a and dilated cardiomyopathy. An important gene associated with Lmna-Related Dilated Cardiomyopathy is LMNA (Lamin A/C).

GeneReviews summary for dcm-lmna

Related Diseases for Lmna-Related Dilated Cardiomyopathy

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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 lmna-related dilated cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-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 Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-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 Lmna-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1a10.6
2dilated cardiomyopathy10.6
3cardiomyopathy10.6
4coronary heart disease 610.5
5noonan syndrome 110.5
6single ventricular heart10.5
7cardiomyopathy, dilated, 1l10.1
8congenital muscular dystrophy type 1a10.1

Graphical network of diseases related to Lmna-Related Dilated Cardiomyopathy:



Diseases related to lmna-related dilated cardiomyopathy

Symptoms for Lmna-Related Dilated Cardiomyopathy

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Drugs & Therapeutics for Lmna-Related Dilated Cardiomyopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated CardiomyopathyRecruitingNCT02351856Phase 2
2A Study of ARRY-371797 in Patients With LMNA-Related Dilated CardiomyopathyActive, not recruitingNCT02057341Phase 2

Search NIH Clinical Center for Lmna-Related Dilated Cardiomyopathy

Genetic Tests for Lmna-Related Dilated Cardiomyopathy

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Genetic tests related to Lmna-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Lmna-Related Dilated Cardiomyopathy22 LMNA

Anatomical Context for Lmna-Related Dilated Cardiomyopathy

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Animal Models for Lmna-Related Dilated Cardiomyopathy or affiliated genes

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Publications for Lmna-Related Dilated Cardiomyopathy

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Articles related to Lmna-Related Dilated Cardiomyopathy:

idTitleAuthorsYear
1
LMNA-Related Dilated Cardiomyopathy (20301717)
1993

Variations for Lmna-Related Dilated Cardiomyopathy

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Clinvar genetic disease variations for Lmna-Related Dilated Cardiomyopathy:

5 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs61046466GRCh37Chr 1, 156084725: 156084725
2LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
3LMNANM_170707.3(LMNA): c.254T> G (p.Leu85Arg)single nucleotide variantPathogenicrs28933090GRCh37Chr 1, 156084963: 156084963
4LMNANM_170707.3(LMNA): c.585C> G (p.Asn195Lys)single nucleotide variantPathogenicrs28933091GRCh37Chr 1, 156104265: 156104265
5LMNANM_170707.3(LMNA): c.608A> G (p.Glu203Gly)single nucleotide variantPathogenicrs28933092GRCh37Chr 1, 156104288: 156104288
6LMNANM_005572.3(LMNA): c.1711C> A (p.Arg571Ser)single nucleotide variantPathogenicrs80338938GRCh37Chr 1, 156107547: 156107547
7LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
8LMNANM_005572.3(LMNA): c.959delT (p.Arg321Glufs)deletionPathogenicrs56771886GRCh37Chr 1, 156105714: 156105714
9LMNANM_170707.3(LMNA): c.1130G> A (p.Arg377His)single nucleotide variantPathogenicrs61672878GRCh37Chr 1, 156105885: 156105885
10LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
11LMNANM_170707.3(LMNA): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs28933093GRCh37Chr 1, 156100532: 156100532
12LMNANM_170707.3(LMNA): c.1718C> T (p.Ser573Leu)single nucleotide variantPathogenicrs60890628GRCh37Chr 1, 156108298: 156108298
13LMNANM_170707.3(LMNA): c.1609-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111569862GRCh37Chr 1, 156107444: 156107444
14LMNANM_170707.3(LMNA): c.(?_1)_(356_?)del (p.(?))deletionPathogenicGRCh37Chr 1, 156084710: 156085065
15LMNANM_170707.3(LMNA): c.1621C> G (p.Arg541Gly)single nucleotide variantPathogenicrs56984562GRCh37Chr 1, 156107457: 156107457
16LMNANM_005572.3(LMNA): c.1003C> T (p.Arg335Trp)single nucleotide variantLikely pathogenic, Pathogenicrs386134243GRCh37Chr 1, 156105758: 156105758
17LMNANM_170707.3(LMNA): c.1146C> T (p.Gly382=)single nucleotide variantLikely pathogenic, Pathogenicrs57508089GRCh37Chr 1, 156105901: 156105901
18LMNANM_005572.3(LMNA): c.1526dupC (p.Thr510Tyrfs)duplicationLikely pathogenic, Pathogenicrs58013325GRCh37Chr 1, 156106941: 156106941
19LMNANM_170707.3(LMNA): c.1621C> T (p.Arg541Cys)single nucleotide variantPathogenicrs56984562GRCh37Chr 1, 156107457: 156107457
20LMNANM_170707.3(LMNA): c.348dupG (p.Lys117Glufs)duplicationPathogenicrs267607646GRCh37Chr 1, 156085057: 156085057
21LMNANM_170707.3(LMNA): c.607G> A (p.Glu203Lys)single nucleotide variantPathogenicrs61195471GRCh37Chr 1, 156104287: 156104287
22LMNANM_005572.3(LMNA): c.673C> T (p.Arg225Ter)single nucleotide variantPathogenicrs60682848GRCh37Chr 1, 156104629: 156104629
23LMNANM_170707.3(LMNA): c.799T> C (p.Tyr267His)single nucleotide variantPathogenicrs267607593GRCh37Chr 1, 156104755: 156104755
24LMNANM_170707.3(LMNA): c.949G> A (p.Glu317Lys)single nucleotide variantLikely pathogenic, Pathogenicrs56816490GRCh37Chr 1, 156105704: 156105704
25LMNANM_005572.3(LMNA): c.958delC (p.Leu320Phefs)deletionPathogenicrs397517915GRCh37Chr 1, 156105713: 156105713
26LMNANM_170707.3(LMNA): c.961C> T (p.Arg321Ter)single nucleotide variantPathogenicrs267607554GRCh37Chr 1, 156105716: 156105716
27LMNANM_170707.3(LMNA): c.992G> A (p.Arg331Gln)single nucleotide variantLikely pathogenic, Pathogenicrs59301204GRCh37Chr 1, 156105747: 156105747
28LMNANM_170707.3(LMNA): c.644T> C (p.Leu215Pro)single nucleotide variantPathogenicrs61295588GRCh37Chr 1, 156104600: 156104600
29LMNANM_170707.3(LMNA): c.1303C> T (p.Arg435Cys)single nucleotide variantLikely pathogenic, Pathogenicrs150840924GRCh37Chr 1, 156106150: 156106150
30LMNANM_170707.3(LMNA): c.244G> A (p.Glu82Lys)single nucleotide variantPathogenicrs59270054GRCh37Chr 1, 156084953: 156084953
31LMNANM_170707.3(LMNA): c.29C> T (p.Thr10Ile)single nucleotide variantPathogenicrs57077886GRCh37Chr 1, 156084738: 156084738
32LMNANM_170707.3(LMNA): c.568C> T (p.Arg190Trp)single nucleotide variantPathogenicrs59026483GRCh37Chr 1, 156104248: 156104248

Expression for genes affiliated with Lmna-Related Dilated Cardiomyopathy

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

Pathways for genes affiliated with Lmna-Related Dilated Cardiomyopathy

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GO Terms for genes affiliated with Lmna-Related Dilated Cardiomyopathy

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Sources for Lmna-Related Dilated Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet