MCID: LMN001
MIFTS: 15

Lmna-Related Dilated Cardiomyopathy malady

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

Aliases & Classifications for Lmna-Related Dilated Cardiomyopathy

Aliases & Descriptions for Lmna-Related Dilated Cardiomyopathy:

Name: Lmna-Related Dilated Cardiomyopathy 23 24
Cardiomyopathy, Familial Idiopathic 69
Dilated Cardiomyopathy 1a 24
Cmd1a 24

Characteristics:

GeneReviews:

23
Penetrance Lmna-related dcm demonstrates age-related penetrance with onset in the third and fourth decades, so that by the seventh decade penetrance is considered greater than 90%-95%...

Classifications:



Summaries for Lmna-Related Dilated Cardiomyopathy

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

GeneReviews: NBK1674

Related Diseases for Lmna-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 Lmna-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 11.2
2 muscular dystrophy, congenital merosin-deficient 10.9
3 dilated cardiomyopathy 10.0
4 cardiomyopathy 10.0

Symptoms & Phenotypes for Lmna-Related Dilated Cardiomyopathy

Drugs & Therapeutics for Lmna-Related Dilated Cardiomyopathy

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Completed NCT02057341 Phase 2
2 A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Recruiting NCT02351856 Phase 2

Search NIH Clinical Center for Lmna-Related Dilated Cardiomyopathy

Genetic Tests for Lmna-Related Dilated Cardiomyopathy

Genetic tests related to Lmna-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Lmna-Related Dilated Cardiomyopathy 24 LMNA

Anatomical Context for Lmna-Related Dilated Cardiomyopathy

Publications for Lmna-Related Dilated Cardiomyopathy

Articles related to Lmna-Related Dilated Cardiomyopathy:

id Title Authors Year
1
LMNA-Related Dilated Cardiomyopathy ( 20301717 )
1993

Variations for Lmna-Related Dilated Cardiomyopathy

ClinVar genetic disease variations for Lmna-Related Dilated Cardiomyopathy:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.178C> G (p.Arg60Gly) single nucleotide variant Pathogenic rs28928900 GRCh37 Chromosome 1, 156084887: 156084887
2 LMNA NM_170707.3(LMNA): c.254T> G (p.Leu85Arg) single nucleotide variant Pathogenic rs28933090 GRCh37 Chromosome 1, 156084963: 156084963
3 LMNA NM_170707.3(LMNA): c.585C> G (p.Asn195Lys) single nucleotide variant Pathogenic rs28933091 GRCh37 Chromosome 1, 156104265: 156104265
4 LMNA NM_170707.3(LMNA): c.608A> G (p.Glu203Gly) single nucleotide variant Pathogenic rs28933092 GRCh37 Chromosome 1, 156104288: 156104288
5 LMNA NM_005572.3(LMNA): c.1711C> A (p.Arg571Ser) single nucleotide variant Pathogenic rs80338938 GRCh37 Chromosome 1, 156107547: 156107547
6 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh37 Chromosome 1, 156105714: 156105714
7 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
8 LMNA NM_170707.3(LMNA): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933093 GRCh37 Chromosome 1, 156100532: 156100532
9 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
10 LMNA NM_170707.3(LMNA): c.1621C> G (p.Arg541Gly) single nucleotide variant Pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
11 LMNA NM_170707.3(LMNA): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
12 LMNA NM_170707.3(LMNA): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs61195471 GRCh37 Chromosome 1, 156104287: 156104287
13 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
14 LMNA NM_170707.3(LMNA): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs61295588 GRCh37 Chromosome 1, 156104600: 156104600
15 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh37 Chromosome 1, 156084738: 156084738
16 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh37 Chromosome 1, 156104248: 156104248
17 LMNA NM_005572.3(LMNA): c.1228C> T (p.Gln410Ter) single nucleotide variant Pathogenic rs1057515421 GRCh37 Chromosome 1, 156106075: 156106075

Expression for Lmna-Related Dilated Cardiomyopathy

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

Pathways for Lmna-Related Dilated Cardiomyopathy

GO Terms for Lmna-Related Dilated Cardiomyopathy

Sources for Lmna-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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