MCID: LMN001
MIFTS: 34

Lmna-Related Dilated Cardiomyopathy

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lmna-Related Dilated Cardiomyopathy

MalaCards integrated aliases for Lmna-Related Dilated Cardiomyopathy:

Name: Lmna-Related Dilated Cardiomyopathy 25 6

Characteristics:

GeneReviews:

25
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 is related to cardiac conduction defect and cardiomyopathy, dilated, 1a. An important gene associated with Lmna-Related Dilated Cardiomyopathy is LMNA (Lamin A/C), and among its related pathways/superpathways are Dilated cardiomyopathy and Arrhythmogenic right ventricular cardiomyopathy. Affiliated tissues include heart, skeletal muscle and endothelial, and related phenotypes are cardiovascular system and muscle

GeneReviews: NBK1674

Related Diseases for Lmna-Related Dilated Cardiomyopathy

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 30.4 MYBPC3 LMNA DSP
2 cardiomyopathy, dilated, 1a 29.2 TTN-AS1 TTN RBM20 MYBPC3 LMNA HAND2-AS1
3 atrial standstill 1 29.1 TTN-AS1 TTN RBM20 MYBPC3 LMNA DSP
4 dilated cardiomyopathy 27.9 TTN-AS1 TTN RBM20 MYBPC3 LMNA HAND2-AS1
5 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 TTN LMNA
6 left ventricular noncompaction 2 10.2 TTN-AS1 TTN
7 autosomal dominant distal myopathy 10.2 TTN-AS1 TTN
8 multiminicore disease 10.2 TTN-AS1 TTN
9 salih myopathy 10.2 TTN-AS1 TTN
10 third-degree atrioventricular block 10.2 TTN-AS1 TTN
11 cardiomyopathy, familial hypertrophic, 9 10.2 TTN-AS1 TTN
12 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.2 TTN LMNA
13 epidermolysis bullosa simplex with muscular dystrophy 10.2 TTN-AS1 TTN
14 tibial muscular dystrophy 10.1 TTN-AS1 TTN
15 ventricular fibrillation, paroxysmal familial, 1 10.1
16 cardiomyopathy, dilated, 1dd 10.1 TTN RBM20
17 sick sinus syndrome 10.1 TTN LMNA
18 hereditary proximal myopathy with early respiratory failure 10.1 TTN-AS1 TTN
19 tibial muscular dystrophy, tardive 10.1 TTN-AS1 TTN
20 cardiomyopathy, familial hypertrophic, 4 10.1 TTN MYBPC3
21 batten-turner congenital myopathy 10.1 TTN-AS1 TTN
22 mitral valve insufficiency 10.1 TTN MYBPC3
23 atrioventricular block 10.1 TTN-AS1 TTN LMNA
24 autosomal dominant limb-girdle muscular dystrophy 10.1 LMNA BAG3
25 diastolic heart failure 10.1 TTN MYBPC3
26 autosomal recessive limb-girdle muscular dystrophy 10.1 TTN-AS1 TTN LMNA
27 limb-girdle muscular dystrophy 10.1 TTN-AS1 TTN LMNA
28 myopathy, myofibrillar, 3 10.1 TTN BAG3
29 myopathy, myofibrillar, 4 10.0 TTN BAG3
30 ebstein anomaly 10.0 MYBPC3 HAND2
31 muscular dystrophy, congenital, lmna-related 10.0 TTN-AS1 TTN LMNA
32 holt-oram syndrome 10.0 LMNA HAND2
33 arrhythmogenic right ventricular dysplasia, familial, 3 10.0 DSP DSC2
34 arrhythmogenic right ventricular dysplasia, familial, 4 10.0 DSP DSC2
35 arrhythmogenic right ventricular dysplasia, familial, 6 10.0 DSP DSC2
36 palmoplantar keratoderma and woolly hair 10.0 DSP DSC2
37 ectodermal dysplasia/skin fragility syndrome 10.0 DSP DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 DSP DSC2
39 ritter's disease 10.0 DSP DSC2
40 arrhythmogenic right ventricular dysplasia, familial, 5 10.0 DSP DSC2
41 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 DSP DSC2
42 arrhythmogenic right ventricular dysplasia, familial, 11 10.0 DSP DSC2
43 cardiac arrest 10.0 TTN MYBPC3 DSP
44 isolated elevated serum creatine phosphokinase levels 10.0 TTN LMNA
45 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSP DSC2
46 paraneoplastic pemphigus 9.9 DSP DSC2
47 neuromuscular disease 9.9 TTN-AS1 TTN LMNA
48 arrhythmogenic right ventricular dysplasia, familial, 10 9.9 DSP DSC2
49 wolff-parkinson-white syndrome 9.9 TTN-AS1 TTN MYBPC3
50 myopathy, myofibrillar, 1 9.9 TTN LMNA BAG3

Graphical network of the top 20 diseases related to Lmna-Related Dilated Cardiomyopathy:



Diseases related to Lmna-Related Dilated Cardiomyopathy

Symptoms & Phenotypes for Lmna-Related Dilated Cardiomyopathy

MGI Mouse Phenotypes related to Lmna-Related Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 BAG3 DSC2 DSP HAND2 LMNA MYBPC3
2 muscle MP:0005369 9.17 BAG3 DSP HAND2 LMNA MYBPC3 RBM20

Drugs & Therapeutics for Lmna-Related Dilated Cardiomyopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Rollover Study of ARRY-371797 in Patients With Symptomatic Genetic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation Completed NCT02351856 Phase 2 ARRY-371797, p38 inhibitor, oral
2 A Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Completed NCT02057341 Phase 2 ARRY-371797, p38 inhibitor; oral

Search NIH Clinical Center for Lmna-Related Dilated Cardiomyopathy

Genetic Tests for Lmna-Related Dilated Cardiomyopathy

Anatomical Context for Lmna-Related Dilated Cardiomyopathy

MalaCards organs/tissues related to Lmna-Related Dilated Cardiomyopathy:

40
Heart, Skeletal Muscle, Endothelial

Publications for Lmna-Related Dilated Cardiomyopathy

Articles related to Lmna-Related Dilated Cardiomyopathy:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 25 6
18585512 2008
2
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 25 6
18035086 2007
3
Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death. 6
31847799 2019
4
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
5
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture. 6
29057633 2017
6
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. 6
27717888 2016
7
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 6
27760138 2016
8
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. 6
25987458 2015
9
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 6
24503780 2014
10
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies. 6
24375749 2014
11
Systematic identification of pathological lamin A interactors. 6
24623722 2014
12
Congenital fiber type disproportion myopathy caused by LMNA mutations. 6
24642510 2014
13
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 6
22883396 2013
14
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 6
23349452 2013
15
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 6
23427149 2013
16
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. 6
23644458 2013
17
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 6
23183350 2013
18
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. 6
22177269 2012
19
Inflammatory changes in infantile-onset LMNA-associated myopathy. 6
21632249 2011
20
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 6
20848652 2011
21
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. 6
21085127 2011
22
Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 6
21173262 2011
23
Two children with "dropped head" syndrome due to lamin A/C mutations. 6
20886652 2010
24
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 6
20980393 2010
25
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. 6
19167105 2010
26
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. 6
20498703 2010
27
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 6
20160190 2010
28
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 6
19524666 2009
29
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 6
19084400 2009
30
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 6
18551513 2008
31
Laminopathies in Russian families. 6
18564364 2008
32
Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. 6
18031519 2008
33
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 6
18646565 2007
34
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 6
17377071 2007
35
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. 6
17136397 2007
36
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 6
17250669 2007
37
Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. 6
16772334 2006
38
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 6
16278265 2006
39
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. 6
15972724 2005
40
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 6
16061563 2005
41
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. 6
15744034 2005
42
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. 6
15668447 2005
43
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 6
15372542 2004
44
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
45
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. 6
15148145 2004
46
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. 6
14749366 2004
47
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 6
14659775 2003
48
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. 6
14675861 2003
49
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 6
14684700 2003
50
LMNA mutations in atypical Werner's syndrome. 6
12927431 2003

Variations for Lmna-Related Dilated Cardiomyopathy

ClinVar genetic disease variations for Lmna-Related Dilated Cardiomyopathy:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) SNV Pathogenic 14480 rs28933090 GRCh37: 1:156084963-156084963
GRCh38: 1:156115172-156115172
2 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) Deletion Pathogenic 14491 rs56771886 GRCh37: 1:156105714-156105714
GRCh38: 1:156135923-156135923
3 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
4 LMNA NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) SNV Pathogenic 29775 rs56984562 GRCh37: 1:156107457-156107457
GRCh38: 1:156137666-156137666
5 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 GRCh37: 1:156104620-156104620
GRCh38: 1:156134829-156134829
6 LMNA NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) SNV Pathogenic 65764 rs61295588 GRCh37: 1:156104600-156104600
GRCh38: 1:156134809-156134809
7 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
8 LMNA NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) SNV Pathogenic 222001 rs1057515421 GRCh37: 1:156106075-156106075
GRCh38: 1:156136284-156136284
9 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) SNV Pathogenic 14482 rs60934003 GRCh37: 1:156107004-156107004
GRCh38: 1:156137213-156137213
10 LMNA NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) Microsatellite Pathogenic 66918 rs267607540 GRCh37: 1:156104300-156104302
GRCh38: 1:156134509-156134511
11 LMNA NM_170707.4(LMNA):c.1608+5G>C SNV Pathogenic 66854 rs267607539 GRCh37: 1:156107028-156107028
GRCh38: 1:156137237-156137237
12 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Pathogenic 208496 rs797045011 GRCh37: 1:156105105-156105105
GRCh38: 1:156135314-156135314
13 LMNA NM_170707.4(LMNA):c.810+1G>C SNV Pathogenic 216958 rs267607632 GRCh37: 1:156104767-156104767
GRCh38: 1:156134976-156134976
14 LMNA NM_170707.4(LMNA):c.513+45T>G SNV Pathogenic 236201 rs878853220 GRCh37: 1:156100609-156100609
GRCh38: 1:156130818-156130818
15 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
16 LMNA NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) SNV Pathogenic 520407 rs58362413 GRCh37: 1:156106974-156106974
GRCh38: 1:156137183-156137183
17 HAND2-AS1 , HAND2 NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) SNV Pathogenic 545687 rs1553974835 GRCh37: 4:174450242-174450242
GRCh38: 4:173529091-173529091
18 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic 14495 rs61672878 GRCh37: 1:156105885-156105885
GRCh38: 1:156136094-156136094
19 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) Deletion Pathogenic 14491 rs56771886 GRCh37: 1:156105714-156105714
GRCh38: 1:156135923-156135923
20 LMNA NM_170707.4(LMNA):c.1608+1G>A SNV Pathogenic 66853 rs267607592 GRCh37: 1:156107024-156107024
GRCh38: 1:156137233-156137233
21 TTN-AS1 , TTN NM_001267550.2(TTN):c.51525del (p.Ser17177fs) Deletion Pathogenic 535032 rs1553692435 GRCh37: 2:179474625-179474625
GRCh38: 2:178609898-178609898
22 TTN-AS1 , TTN NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs) Duplication Pathogenic 978284 GRCh37: 2:179439418-179439419
GRCh38: 2:178574691-178574692
23 TTN-AS1 , TTN NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) SNV Pathogenic 238846 rs767450912 GRCh37: 2:179434142-179434142
GRCh38: 2:178569415-178569415
24 LMNA NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) SNV Pathogenic 694069 rs267607622 GRCh37: 1:156100526-156100526
GRCh38: 1:156130735-156130735
25 TTN-AS1 , TTN NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter) SNV Pathogenic 978334 GRCh37: 2:179442330-179442330
GRCh38: 2:178577603-178577603
26 TTN-AS1 , TTN NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter) SNV Pathogenic 978335 GRCh37: 2:179447293-179447293
GRCh38: 2:178582566-178582566
27 TTN-AS1 , TTN NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) SNV Pathogenic 978336 GRCh37: 2:179411961-179411961
GRCh38: 2:178547234-178547234
28 LMNA NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) SNV Pathogenic 14479 rs28928900 GRCh37: 1:156084887-156084887
GRCh38: 1:156115096-156115096
29 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) SNV Pathogenic 14481 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
30 LMNA NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) SNV Pathogenic 14508 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
31 LMNA NM_170707.4(LMNA):c.1698+13C>A SNV Pathogenic 14485 rs80338938 GRCh37: 1:156107547-156107547
GRCh38: 1:156137756-156137756
32 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 GRCh37: 1:156104630-156104630
GRCh38: 1:156134839-156134839
33 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
34 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic 14477 rs61046466 GRCh37: 1:156084725-156084725
GRCh38: 1:156114934-156114934
35 LMNA NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) SNV Pathogenic 14483 rs28933091 GRCh37: 1:156104265-156104265
GRCh38: 1:156134474-156134474
36 LMNA NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) SNV Pathogenic 14484 rs28933092 GRCh37: 1:156104288-156104288
GRCh38: 1:156134497-156134497
37 LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic 66856 rs267607581 GRCh37: 1:156107442-156107442
GRCh38: 1:156137651-156137651
38 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
39 LMNA NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) SNV Pathogenic 66888 rs57077886 GRCh37: 1:156084738-156084738
GRCh38: 1:156114947-156114947
40 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) SNV Pathogenic 14511 rs58048078 GRCh37: 1:156104733-156104733
GRCh38: 1:156134942-156134942
41 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) SNV Pathogenic 14514 rs56699480 GRCh37: 1:156106808-156106808
GRCh38: 1:156137017-156137017
42 LMNA NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) SNV Pathogenic 48070 rs61195471 GRCh37: 1:156104287-156104287
GRCh38: 1:156134496-156134496
43 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) SNV Pathogenic 48074 rs60682848 GRCh37: 1:156104629-156104629
GRCh38: 1:156134838-156134838
44 LMNA NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) Microsatellite Pathogenic 66955 rs59684335 GRCh37: 1:156105071-156105072
GRCh38: 1:156135280-156135281
45 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
46 LMNA NM_170707.4(LMNA):c.640-10A>G SNV Pathogenic 66921 rs80356807 GRCh37: 1:156104586-156104586
GRCh38: 1:156134795-156134795
47 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
48 TTN-AS1 , TTN NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) SNV Pathogenic 202371 rs374140736 GRCh37: 2:179481235-179481235
GRCh38: 2:178616508-178616508
49 TTN-AS1 , TTN NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) Deletion Pathogenic 202466 rs794729339 GRCh37: 2:179438010-179438011
GRCh38: 2:178573283-178573284
50 TTN-AS1 , TTN NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) SNV Pathogenic 265437 rs869038795 GRCh37: 2:179429822-179429822
GRCh38: 2:178565095-178565095

Expression for Lmna-Related Dilated Cardiomyopathy

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

Pathways for Lmna-Related Dilated Cardiomyopathy

Pathways related to Lmna-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.4 TTN MYBPC3 LMNA
2 10.98 LMNA DSP DSC2
3 10.9 LMNA DSP

GO Terms for Lmna-Related Dilated Cardiomyopathy

Cellular components related to Lmna-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.16 DSP DSC2
2 cornified envelope GO:0001533 8.96 DSP DSC2
3 desmosome GO:0030057 8.62 DSP DSC2

Biological processes related to Lmna-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart morphogenesis GO:0003007 9.37 MYBPC3 HAND2
2 cardiac muscle contraction GO:0060048 9.32 TTN MYBPC3
3 regulation of heart rate by cardiac conduction GO:0086091 9.26 DSP DSC2
4 muscle filament sliding GO:0030049 9.16 TTN MYBPC3
5 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.96 DSP DSC2
6 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.62 DSP DSC2

Molecular functions related to Lmna-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 TTN MYBPC3
2 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 DSP DSC2

Sources for Lmna-Related Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
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