CMD1A
MCID: CRD093
MIFTS: 52

Cardiomyopathy, Dilated, 1a (CMD1A)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1a

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1a:

Name: Cardiomyopathy, Dilated, 1a 56 13
Dilated Cardiomyopathy 1a 12 29 6 15
Cdcd1 56 12 73
Familial Dilated Cardiomyopathy with Conduction Defect Due to Lmna Mutation 12 58
Cardiomyopathy, Familial Idiopathic 56 71
Cmd1a 56 73
Cardiomyopathy, Dilated, with Conduction Defect 1; Cdcd1 56
Cardiomyopathy Dilated with Conduction Defect Type 1 52
Cardiomyopathy, Dilated, with Conduction Defect 1 56
Dilated Cardiomyopathy with Conduction Defect 1 12
Cardiomyopathy Dilated with Conduction Defect 1 73
Cardiomyopathy, Idiopathic Dilated 56
Cardiomyopathy, Dilated, Type 1a 39
Cardiomyopathy, Congestive 56
Cardiomyopathy, Dilated 1a 73

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant
? a recessive form also


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110425
OMIM 56 115200
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 via Orphanet 33 I42.0
Orphanet 58 ORPHA300751
MedGen 41 C1449563
UMLS 71 C1449563

Summaries for Cardiomyopathy, Dilated, 1a

OMIM : 56 Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010). (115200)

MalaCards based summary : Cardiomyopathy, Dilated, 1a, also known as dilated cardiomyopathy 1a, is related to muscular dystrophy, congenital merosin-deficient, 1a and atrial standstill 1. An important gene associated with Cardiomyopathy, Dilated, 1a is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cytoskeletal Signaling. The drugs Metoprolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and bone, and related phenotypes are dilated cardiomyopathy and sudden cardiac death

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the LMNA gene on chromosome 1q21.

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1A: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Related Diseases for Cardiomyopathy, Dilated, 1a

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 Cardiomyopathy, Dilated, 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 32.1 LMNA EMD
2 atrial standstill 1 30.0 MYOT LMNA EMD
3 dilated cardiomyopathy 28.7 TMEM43 SYNE2 SYNE1 MYOT LMNA HAND2
4 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.5
5 cardiomyopathy, dilated, 2a 11.4
6 cardiomyopathy, dilated, 1l 11.3
7 laminin subunit alpha 2-related congenital muscular dystrophy 11.2
8 emerinopathy 10.4 LMNA EMD
9 mandibuloacral dysplasia with type a lipodystrophy 10.4 ZMPSTE24 LMNA
10 lipodystrophy, familial partial, type 1 10.4 ZMPSTE24 LMNA
11 acroosteolysis 10.4 ZMPSTE24 LMNA
12 first-degree atrioventricular block 10.4 LMNA EMD
13 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4 ZMPSTE24 LMNA
14 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 TMEM43 LMNA
15 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TMEM43 LMNA
16 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 TMEM43 LMNA
17 congestive heart failure 10.3
18 restrictive dermopathy, lethal 10.3 ZMPSTE24 LMNA
19 complete generalized lipodystrophy 10.3 ZMPSTE24 LMNA
20 left bundle branch hemiblock 10.3 TMEM43 LMNA
21 osteopoikilosis 10.2 LMNA EMD
22 nonencapsulated sclerosing carcinoma 10.2 LMNB2 LMNB1 LMNA
23 lipodystrophy, congenital generalized, type 1 10.2 ZMPSTE24 LMNA
24 reynolds syndrome 10.1 ZMPSTE24 LMNB2 LMNB1 LMNA
25 myocarditis 10.0
26 hypertrophic cardiomyopathy 10.0
27 peripartum cardiomyopathy 10.0
28 skin atrophy 9.9 ZMPSTE24 LMNA
29 x-linked emery-dreifuss muscular dystrophy 9.9 SYNE2 SYNE1 LMNA EMD
30 muscular dystrophy, limb-girdle, autosomal dominant 2 9.9 MYOT LMNA
31 progressive familial heart block, type ia 9.9
32 cardiac conduction defect 9.9
33 endocardial fibroelastosis 9.9
34 cardiomyopathy, dilated, 1b 9.9
35 hepatitis c virus 9.9
36 pulmonary edema 9.9
37 heart disease 9.9
38 mitral valve insufficiency 9.9
39 allergic hypersensitivity disease 9.9
40 hepatitis c 9.9
41 acute myocarditis 9.9
42 hypereosinophilic syndrome 9.9
43 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 MYOT LMNA
44 lipodystrophy, familial partial, type 5 9.9 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
45 charcot-marie-tooth disease 9.9 SUN1 LMNB2 LMNB1 LMNA EMD
46 osteogenic sarcoma 9.8
47 cardiac arrest 9.8
48 trypanosomiasis 9.8
49 alcoholic cardiomyopathy 9.8
50 hypothyroidism 9.8

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1a:



Diseases related to Cardiomyopathy, Dilated, 1a

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1a

Human phenotypes related to Cardiomyopathy, Dilated, 1a:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
2 sudden cardiac death 58 31 frequent (33%) Frequent (79-30%) HP:0001645
3 lipodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009125
4 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
5 atrial fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0005110
6 left ventricular dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0005162
7 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
8 muscular dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003560
9 supraventricular tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004755
10 pericardial effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001698
11 atrial flutter 58 31 occasional (7.5%) Occasional (29-5%) HP:0004749
12 ventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004308
13 sinoatrial block 58 31 occasional (7.5%) Occasional (29-5%) HP:0012723
14 abnormal lymphocyte physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0031409
15 abnormal myocardium morphology 58 Frequent (79-30%)
16 heart block 58 Occasional (29-5%)
17 cardiac conduction abnormality 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
congestive heart failure
pericardial effusion
ventricular arrhythmia
congestive cardiomyopathy
conduction defects
more
Lab:
myocardial deposits of a nonmetachromatic, diastase-resistant, pas-positive polysaccharide
defect in suppressor lymphocyte function

Neuro:
normal neurologic examination
adams-stokes attacks

Clinical features from OMIM:

115200

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 EMD HAND2 LMNA RCE1 SUN1 SYNE1
2 muscle MP:0005369 9.32 EMD HAND2 LMNA LMNB1 LMNB2 RCE1

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1a

Drugs for Cardiomyopathy, Dilated, 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoprolol Approved, Investigational Phase 2 51384-51-1, 37350-58-6 4171
2 Neurotransmitter Agents Phase 2
3 Adrenergic beta-Antagonists Phase 2
4 Adrenergic Antagonists Phase 2
5 Adrenergic Agents Phase 2
6 Immunologic Factors
7 Immunoglobulins
8 Antibodies
9 Antibodies, Antinuclear

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Metabolic Function and Perfusion Using Positron Emission Tomography: An Analysis of Patients With Congestive Cardiomyopathy Before and After Beta-Blockers Completed NCT00001402 Phase 2
2 Optimized Biventricular Pacing in Allograft Recipients Terminated NCT01290822 Phase 1, Phase 2
3 Injection of Autologous CD34+ Cells for Neovascularization and Symptom Relief in Patients With Myocardial Ischemia and LVEF < 40% Withdrawn NCT00346177 Phase 2
4 Injection of Autologous CD34+ Cells for Neovascularization and Symptom Relief in Patients With Myocardial Ischemia and LVEF < 40% Terminated NCT00620048 Phase 1
5 The Use of Automated Cardioverter Defibrillator in Children (AICD) Completed NCT00268021
6 Repolarization Disorders and Heart Conduction Disorders in Patients With Systemic Lupus Erythematous Completed NCT02162992
7 Mapping Novel Disease Genes for Dilated Cardiomyopathy Completed NCT00046618

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1a

Genetic Tests for Cardiomyopathy, Dilated, 1a

Genetic tests related to Cardiomyopathy, Dilated, 1a:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1a 29 LMNA

Anatomical Context for Cardiomyopathy, Dilated, 1a

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1a:

40
Heart, Skeletal Muscle, Bone, Skin

Publications for Cardiomyopathy, Dilated, 1a

Articles related to Cardiomyopathy, Dilated, 1a:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. 56 6
15972724 2005
2
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 56 6
12920062 2003
3
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 56 6
12628721 2003
4
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 56 6
10662742 2000
5
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 56 6
10580070 1999
6
Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy. 56
31316208 2019
7
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
8
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
9
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
10
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. 6
23644458 2013
11
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
12
Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side). 56
21617319 2011
13
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 56
20551992 2010
14
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. 56
20127487 2010
15
LMNA-Related Dilated Cardiomyopathy 6
20301717 2008
16
Dilated Cardiomyopathy Overview 6
20301486 2007
17
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 6
17250669 2007
18
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 6
16278265 2006
19
Primary prevention of sudden death in patients with lamin A/C gene mutations. 56
16407522 2006
20
Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IAbeta knockout NOD mice. 56
14570980 2003
21
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 56
12673789 2003
22
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 6
12196663 2002
23
The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. 56
11239412 2001
24
Pathogenesis of inherited forms of dilated cardiomyopathy. 56
10580077 1999
25
Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution. 56
9227300 1997
26
Mapping a cardiomyopathy locus to chromosome 3p22-p25. 56
8567977 1996
27
Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy. 56
8592331 1995
28
Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms. 56
7546997 1995
29
A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. 56
7951328 1994
30
Dystrophin analysis in idiopathic dilated cardiomyopathy. 56
8301653 1993
31
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. 56
1727235 1992
32
The epidemiology of idiopathic dilated cardiomyopathy in a biracial community. 56
2293752 1990
33
Familial dilated cardiomyopathy. 56
3223495 1988
34
Familial idiopathic dilated cardiomyopathy. 56
3354422 1988
35
Familial dilated cardiomyopathy and human leucocyte antigen. A report of two family cases. 56
3444043 1987
36
Dominantly inherited dilated cardiomyopathy. 56
3605207 1987
37
Familial idiopathic congestive cardiomyopathy in three generations: a family study with eight affected members. 56
3685246 1987
38
Evolution of a hereditary cardiac conduction and muscle disorder: a study involving a family with six generations affected. 56
3708775 1986
39
Dilated cardiomyopathy in identical twins. 56
6541991 1984
40
Clinical and pathologic findings of myocarditis in two families with dilated cardiomyopathy. 56
6691219 1984
41
Familial cardiomyopathy. Autosomally, dominantly inherited congestive cardiomyopathy with two cases of septal hypertrophy in one family. 56
519893 1979
42
Dominant and recessive modes of inheritance in idiopathic cardiomyopathy. 56
4106916 1971
43
Familial cardiomyopathy: immunological studies and review of literatures on autopsied cases in Japan. 56
5313423 1971
44
Congestive and hypertrophic cardiomyopathies. A decade of study. 56
4191245 1970
45
Idiopathic familial cardiopathy. A study of two families. 56
5387421 1969
46
A family with cardiomyopathy. 56
5900684 1966
47
THREE FAMILIES WITH FAMILIAL CARDIOMYOPATHY. 56
14327505 1965
48
Cardiomyopathy in four members of a family. 56
13971225 1962
49
Familial cardiomyopathy. 56
13969597 1962
50
Familial idiopathic cardiomegaly. 56
13748557 1961

Variations for Cardiomyopathy, Dilated, 1a

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

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)SNV Pathogenic 222001 rs1057515421 1:156106075-156106075 1:156136284-156136284
2 LMNA NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)SNV Pathogenic 14479 rs28928900 1:156084887-156084887 1:156115096-156115096
3 LMNA NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)SNV Pathogenic 14480 rs28933090 1:156084963-156084963 1:156115172-156115172
4 LMNA NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)SNV Pathogenic 14483 rs28933091 1:156104265-156104265 1:156134474-156134474
5 LMNA NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)SNV Pathogenic 14484 rs28933092 1:156104288-156104288 1:156134497-156134497
6 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
7 LMNA NM_005572.3(LMNA):c.959delT (p.Arg321Glufs)deletion Pathogenic 14491 rs56771886 1:156105714-156105714 1:156135923-156135923
8 LMNA NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)SNV Pathogenic 29775 rs56984562 1:156107457-156107457 1:156137666-156137666
9 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)SNV Pathogenic 48074 rs60682848 1:156104629-156104629 1:156134838-156134838
10 LMNA NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)SNV Pathogenic 65764 rs61295588 1:156104600-156104600 1:156134809-156134809
11 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)SNV Pathogenic 66931 rs59332535 1:156104702-156104702 1:156134911-156134911
12 LMNA NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs)short repeat Pathogenic 66955 rs59684335 1:156105071-156105072 1:156135280-156135281
13 HAND2 NM_021973.3(HAND2):c.199G>T (p.Glu67Ter)SNV Pathogenic 545687 rs1553974835 4:174450242-174450242 4:173529091-173529091
14 LMNA NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)SNV Pathogenic 520407 rs58362413 1:156106974-156106974 1:156137183-156137183
15 LMNA NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)SNV Pathogenic 694069 1:156100526-156100526 1:156130735-156130735
16 LMNA NM_170707.4(LMNA):c.1609-3C>GSNV Pathogenic/Likely pathogenic 66856 rs267607581 1:156107442-156107442 1:156137651-156137651
17 LMNA NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)SNV Pathogenic/Likely pathogenic 66888 rs57077886 1:156084738-156084738 1:156114947-156114947
18 LMNA NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)SNV Pathogenic/Likely pathogenic 66901 rs267607570 1:156100548-156100548 1:156130757-156130757
19 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
20 LMNA NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)SNV Pathogenic/Likely pathogenic 48031 rs397517889 1:156105884-156105884 1:156136093-156136093
21 LMNA NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)SNV Pathogenic/Likely pathogenic 48046 rs56984562 1:156107457-156107457 1:156137666-156137666
22 LMNA NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)SNV Pathogenic/Likely pathogenic 48070 rs61195471 1:156104287-156104287 1:156134496-156134496
23 LMNA NM_170707.4(LMNA):c.1412G>A (p.Arg471His)SNV Pathogenic/Likely pathogenic 36476 rs267607578 1:156106743-156106743 1:156136952-156136952
24 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
25 LMNA NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)SNV Pathogenic/Likely pathogenic 14504 rs28933093 1:156100532-156100532 1:156130741-156130741
26 MYBPC3 NM_000256.3(MYBPC3):c.2414-1G>ASNV Likely pathogenic 216967 rs863224899 11:47359131-47359131 11:47337580-47337580
27 LMNA NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)SNV Likely pathogenic 435770 rs1553265739 1:156105872-156105872 1:156136081-156136081
28 LMNA NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)SNV Likely pathogenic 245950 rs730882262 1:156105084-156105084 1:156135293-156135293
29 LMNA NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)SNV Likely pathogenic 804298 1:156084789-156084789 1:156114998-156114998
30 LMNA NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)SNV Likely pathogenic 559576 rs1553265736 1:156105871-156105871 1:156136080-156136080
31 LMNA NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)SNV Likely pathogenic 634638 rs1165819867 1:156104683-156104683 1:156134892-156134892
32 LMNA NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)SNV Likely pathogenic 520416 rs1553265180 1:156104291-156104291 1:156134500-156134500
33 LMNA NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)SNV Conflicting interpretations of pathogenicity 48097 rs56851164 1:156105731-156105731 1:156135940-156135940
34 LMNA NM_170707.4(LMNA):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 66780 rs267607603 1:156105904-156105904 1:156136113-156136113
35 MYBPC3 NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)SNV Conflicting interpretations of pathogenicity 181046 rs730880623 11:47371375-47371375 11:47349824-47349824
36 MYBPC3 NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)SNV Conflicting interpretations of pathogenicity 161311 rs193068692 11:47371592-47371592 11:47350041-47350041
37 LMNA NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)SNV Conflicting interpretations of pathogenicity 14517 rs60890628 1:156108298-156108298 1:156138507-156138507
38 LMNA NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)SNV Conflicting interpretations of pathogenicity 14527 rs142000963 1:156108510-156108510 1:156138719-156138719
39 LMNA NM_170707.4(LMNA):c.1381-5G>ASNV Uncertain significance 180405 rs730880133 1:156106707-156106707 1:156136916-156136916
40 LMNA NM_170707.4(LMNA):c.1698+13C>ASNV Uncertain significance 14485 rs80338938 1:156107547-156107547 1:156137756-156137756
41 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)SNV Uncertain significance 66797 rs267607606 1:156106090-156106090 1:156136299-156136299
42 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)SNV Uncertain significance 245964 rs200466188 1:156106818-156106818 1:156137027-156137027
43 LMNA NM_170707.4(LMNA):c.1070A>T (p.Asp357Val)SNV Uncertain significance 428603 rs1131690785 1:156105825-156105825 1:156136034-156136034
44 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met)SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
45 LMNA NM_170707.4(LMNA):c.329G>A (p.Arg110His)SNV Uncertain significance 522979 rs556237236 1:156085038-156085038 1:156115247-156115247
46 MYBPC3 NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)SNV Benign/Likely benign 42813 rs34580776 11:47367871-47367871 11:47346320-47346320
47 LMNA NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)SNV not provided 684440 1:156106979-156106979 1:156137188-156137188

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

73 (show all 28)
# Symbol AA change Variation ID SNP ID
1 LMNA p.Leu85Arg VAR_009975 rs28933090
2 LMNA p.Asn195Lys VAR_009977 rs28933091
3 LMNA p.Glu203Gly VAR_009978 rs28933092
4 LMNA p.Glu161Lys VAR_017660 rs28933093
5 LMNA p.Arg60Gly VAR_034706 rs28928900
6 LMNA p.Arg89Leu VAR_039758 rs59040894
7 LMNA p.Lys97Glu VAR_039759 rs59065411
8 LMNA p.Ser143Pro VAR_039761 rs61661343
9 LMNA p.Arg190Gln VAR_039763 rs267607571
10 LMNA p.Arg190Trp VAR_039764 rs59026483
11 LMNA p.Asp192Gly VAR_039765 rs57045855
12 LMNA p.Glu203Lys VAR_039767 rs61195471
13 LMNA p.Leu215Pro VAR_039768 rs61295588
14 LMNA p.Glu317Lys VAR_039775 rs56816490
15 LMNA p.Arg349Leu VAR_039776 rs58789393
16 LMNA p.Arg399Cys VAR_039778 rs58672172
17 LMNA p.Arg435Cys VAR_039779 rs150840924
18 LMNA p.Arg541Cys VAR_039786 rs56984562
19 LMNA p.Arg541Ser VAR_039788 rs56984562
20 LMNA p.Ser573Leu VAR_039789 rs60890628
21 LMNA p.Leu92Phe VAR_067257 rs267607560
22 LMNA p.Gly523Arg VAR_067258 rs201583907
23 LMNA p.Arg101Pro VAR_070174 rs267607568
24 LMNA p.Arg166Pro VAR_070176 rs267607570
25 LMNA p.Ile210Ser VAR_070177 rs267607572
26 LMNA p.Ala318Thr VAR_070179 rs267607574
27 LMNA p.Arg388His VAR_070180 rs267607576
28 LMNA p.Arg471His VAR_070182 rs267607578

Expression for Cardiomyopathy, Dilated, 1a

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

Pathways for Cardiomyopathy, Dilated, 1a

Pathways related to Cardiomyopathy, Dilated, 1a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 SYNE2 SYNE1 SUN1 NUF2 LMNB1 LMNA
2 12.11 LMNB2 LMNB1 LMNA EMD
3 11.85 LMNB2 LMNB1 LMNA
4
Show member pathways
11.8 LMNB2 LMNB1 LMNA
5
Show member pathways
11.49 SYNE2 SYNE1 SUN1 LMNB1 LMNA
6
Show member pathways
11.02 LMNB2 LMNB1 LMNA
7
Show member pathways
10.65 LMNB1 LMNA EMD

GO Terms for Cardiomyopathy, Dilated, 1a

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.27 ZMPSTE24 TMEM43 SYNE3 SYNE2 SYNE1 SUN1
2 nucleus GO:0005634 10.25 ZMPSTE24 TMEM43 SYNE3 SYNE2 SYNE1 SUN1
3 nuclear membrane GO:0031965 9.81 SYNE3 SYNE2 SYNE1 SUN1 NRM LMNB2
4 nuclear outer membrane GO:0005640 9.62 SYNE3 SYNE2 SYNE1 EMD
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.56 SYNE3 SYNE2 SYNE1 SUN1
6 lamin filament GO:0005638 9.54 LMNB2 LMNB1 LMNA
7 nuclear inner membrane GO:0005637 9.5 ZMPSTE24 TMEM43 SUN1 NRM LMNB2 LMNB1
8 integral component of nuclear inner membrane GO:0005639 9.43 TMEM43 SUN1
9 nuclear envelope GO:0005635 9.32 ZMPSTE24 SYNE3 SYNE2 SYNE1 SUN1 NRM

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

# Name GO ID Score Top Affiliating Genes
1 centrosome localization GO:0051642 9.46 SYNE2 SUN1
2 nuclear migration GO:0007097 9.43 SYNE3 SYNE2
3 mitotic nuclear envelope reassembly GO:0007084 9.4 LMNA EMD
4 nuclear matrix anchoring at nuclear membrane GO:0090292 9.37 SYNE1 SUN1
5 nucleus organization GO:0006997 9.33 ZMPSTE24 SYNE1 LMNA
6 CAAX-box protein processing GO:0071586 9.32 ZMPSTE24 RCE1
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.26 SYNE2 SUN1
8 nuclear envelope organization GO:0006998 9.13 ZMPSTE24 SUN1 LMNA
9 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SYNE3 SYNE2 SYNE1 SUN1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 ZMPSTE24 TMEM43 SYNE3 SYNE2 SYNE1 SUN1
2 actin binding GO:0003779 9.46 SYNE2 SYNE1 MYOT EMD
3 lamin binding GO:0005521 8.8 SYNE1 SUN1 AKAP8L

Sources for Cardiomyopathy, Dilated, 1a

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
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
Content
Loading form....