CMD1A
MCID: CRD093
MIFTS: 44

Cardiomyopathy, Dilated, 1a (CMD1A)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1a

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1a:

Name: Cardiomyopathy, Dilated, 1a 58 13
Dilated Cardiomyopathy 1a 12 30 6 15
Cdcd1 58 12 76
Cardiomyopathy, Familial Idiopathic 58 74
Cmd1a 58 76
Familial Dilated Cardiomyopathy with Conduction Defect Due to Lmna Mutation 12
Cardiomyopathy, Dilated, with Conduction Defect 1; Cdcd1 58
Cardiomyopathy Dilated with Conduction Defect Type 1 54
Cardiomyopathy, Dilated, with Conduction Defect 1 58
Dilated Cardiomyopathy with Conduction Defect 1 12
Cardiomyopathy Dilated with Conduction Defect 1 76
Cardiomyopathy, Idiopathic Dilated 58
Cardiomyopathy, Dilated, Type 1a 41
Cardiomyopathy, Congestive 58
Cardiomyopathy, Dilated 1a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
? a recessive form also


HPO:

33
cardiomyopathy, dilated, 1a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110425
OMIM 58 115200
MeSH 45 D002311
MedGen 43 C1449563
UMLS 74 C1449563

Summaries for Cardiomyopathy, Dilated, 1a

OMIM : 58 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 dilated cardiomyopathy and cardiomyopathy, dilated, with hypergonadotropic hypogonadism. An important gene associated with Cardiomyopathy, Dilated, 1a is LMNA (Lamin A/C). The drugs Morphine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and breast, and related phenotypes are congestive heart failure and dilated cardiomyopathy

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

UniProtKB/Swiss-Prot : 76 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 Dilated 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 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 all 11)
# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 11.9
2 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.4
3 cardiomyopathy, dilated, 2a 11.2
4 cardiomyopathy, dilated, 1l 11.2
5 muscular dystrophy, congenital merosin-deficient, 1a 11.1
6 cardiomyopathy, dilated, 1h 10.1
7 congestive heart failure 10.1
8 rere-related disorders 10.0
9 atrial fibrillation 9.9
10 myocarditis 9.9
11 heart disease 9.5 HAND2 LMNA

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 atrial fibrillation 33 HP:0005110
4 pericardial effusion 33 HP:0001698
5 ventricular arrhythmia 33 HP:0004308
6 atrial flutter 33 HP:0004749

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 HAND2 LMNA
2 limbs/digits/tail MP:0005371 8.62 HAND2 LMNA

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1a

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

(show top 50) (show all 240)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4 57-27-2 5288826
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Vancomycin Approved Phase 4 1404-90-6 14969 441141
4
Cefazolin Approved Phase 4 25953-19-9 33255 656510
5
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
6
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
7
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
8
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
9
Tenofovir Approved, Experimental, Investigational Phase 4 147127-20-6 464205
10
Nelfinavir Approved Phase 4,Phase 3,Phase 2,Not Applicable 159989-64-7 64143
11
Doxazosin Approved Phase 4 74191-85-8 3157
12
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
13
Metoprolol Approved, Investigational Phase 4,Phase 2 37350-58-6, 51384-51-1 4171
14
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
15
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
16
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
17
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
18
Adenosine Approved, Investigational Phase 4 58-61-7 60961
19
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
20
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
21
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 27284 23925
22
leucovorin Approved Phase 4 58-05-9 143 6006
23
Verapamil Approved Phase 4 52-53-9 2520
24
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 134678-17-4 60825
25
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
26
Abacavir Approved, Investigational Phase 4,Phase 2 136470-78-5 441300 65140
27
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 3056-17-5 18283
28
Calcium Approved, Nutraceutical Phase 4,Phase 1,Phase 2,Not Applicable 7440-70-2 271
29
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
31
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
32
Cobalamin Experimental Phase 4 13408-78-1 6857388
33 Analgesics Phase 4,Phase 3,Phase 2
34 Antipyretics Phase 4
35 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
37 Analgesics, Opioid Phase 4,Phase 3,Phase 2,Not Applicable
38 Analgesics, Non-Narcotic Phase 4
39 Narcotics Phase 4,Phase 3,Phase 2
40 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3
41 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
43 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
47 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
50 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 124)
# Name Status NCT ID Phase Drugs
1 A Study Comparing Reduction in Pain Intensity Following IV or Oral Acetaminophen Unknown status NCT02678416 Phase 4 IV Acetaminophen;IV Morphine;Acetaminophen tablets
2 The Use of Ceftaroline as Surgical Prophylaxis in Surgery With Risk of MRSA Infection Unknown status NCT02307006 Phase 4 Ceftaroline;Cefazolin / Vancomycin
3 Immune Reconstitution as a Determinant of Adverse Effects to New Antiretroviral Therapy in Persons With Advanced HIV Infection Unknown status NCT00885664 Phase 4 Truvada (tenofovir/emitricitabine);Kaletra (lopinavir/ritonavir)
4 Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy Completed NCT02115581 Phase 4 Coenzyme Q10;Placebo
5 Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4 Carvedilol;Metoprolol succinate;Metoprolol succinate + doxazosin
6 Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy Completed NCT01917149 Phase 4 Benazepril;Valsartan;Metoprolol
7 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
8 Impact of Preoperative Treatment of Anemia and Iron Deficiency in Cardiac Surgery on Outcome. Completed NCT02031289 Phase 4 Erythropoietin/Ferric carboxymaltose/Vitamin B12/Folic Acid
9 Pulse Reduction On Beta-blocker and Ivabradine Therapy Recruiting NCT02973594 Phase 4 Ivabradine;Placebo
10 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
11 3TC or No 3TC for HIV With 3TC Resistance Suspended NCT00143728 Phase 4 Lamivudine
12 A Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients Completed NCT00005106 Phase 4 Lamivudine/Zidovudine;Abacavir sulfate;Nelfinavir mesylate;Lamivudine;Stavudine
13 Chlorhexidine Cordcare for Reduction in Neonatal Mortality and Omphalitis Unknown status NCT01528852 Phase 3 Chlorhexidine 4%;Chlorhexidine 4%
14 Valganciclovir in Patients With CMV Retinitis and AIDS Who Cannot Take Drugs by Injection Unknown status NCT00017784 Phase 3 Valganciclovir
15 A Study of Valacyclovir as Treatment for Genital Herpes Simplex Virus in HIV-Infected Patients Unknown status NCT00005663 Phase 3 Valacyclovir hydrochloride
16 Comparison of Two Dosing Regimens of GW433908/Ritonavir Versus Lopinavir/Ritonavir for 48 Weeks in HIV Patients Who Have Taken Protease Inhibitors and Experienced Virological Failure Unknown status NCT00025727 Phase 3 Lopinavir/Ritonavir;Ritonavir;GW433908
17 Honey in Idiopathic Dilated Cardiomyopathy Completed NCT02987322 Phase 2, Phase 3
18 Efficacy of Thoracic Paravertebral Block in the Reduction of Acute Post-surgical Pain in Patients With Breast Cancer Completed NCT02609321 Phase 3
19 The Acute Effects of the Angiotensin-converting Enzyme Inhibitor Enalaprilat on Flow Distribution Completed NCT00741156 Phase 3 Enalaprilat
20 Clinical Evaluation Of The PARADYM RF Device Completed NCT01193634 Phase 3
21 Safety and Efficacy Study of OnabotulinumtoxinA for the Treatment of Urinary Incontinence Due to Neurogenic Detrusor Overactivity (NDO) in Non-Catheterizing Patients With Multiple Sclerosis (MS) Completed NCT01600716 Phase 3 Placebo (Normal Saline)
22 Cognitive Behavioral Therapy (CBT) for Posttraumatic Stress Disorder (PTSD) in Community Addiction Treatment Completed NCT01457391 Phase 3
23 Treatment Seeking Participants With Opioid Use Disorders Assessing Tolerability of Depot Injections of Buprenorphine Completed NCT02357901 Phase 3 SUBOXONE;RBP-6000;Placebo
24 Study of OnabotulinumtoxinA for Urinary Incontinence Due to Neurogenic Detrusor Overactivity in Pediatric Patients Completed NCT01852045 Phase 3
25 Efficacy and Safety Study of GSK1358820 in Japanese Patients With Urinary Incontinence Due to Neurogenic Detrusor Overactivity Completed NCT02849418 Phase 3 GSK1358820;Placebo
26 Dysport® Treatment of Urinary Incontinence in Adults Subjects With Neurogenic Detrusor Overactivity (NDO) Due to Spinal Cord Injury or Multiple Sclerosis - Study 1 Completed NCT02660138 Phase 3 AbobotulinumtoxinA;AbobotulinumtoxinA;AbobotulinumtoxinA Placebo;AbobotulinumtoxinA Placebo
27 A Study to Evaluate the Efficacy and Safety of Botulinum Toxin Type A in Patients With Overactive Bladder (OAB) Enrolling by invitation NCT02786407 Phase 3 Botulinum Toxin Type A for Injection;Placebo
28 CGM Intervention in Teens and Young Adults With Type 1 Diabetes (T1D) Active, not recruiting NCT03263494 Phase 3
29 Effectiveness and Safety of Two Forms of Stavudine in HIV-Infected Patients Completed NCT00005918 Phase 3 Efavirenz;Lamivudine;Stavudine
30 Amprenavir/Ritonavir or Saquinavir/Ritonavir in HIV-Infected Subjects Following Failure With Kaletra as Their Second Protease Inhibitor Completed NCT00038519 Phase 2, Phase 3 Amprenavir/ritonavir;Saquinavir/ritonavir
31 Atazanavir Versus Lopinavir/Ritonavir (LPV/RTV) in Patients Who Have Not Had Success With Protease Inhibitor-Containing HAART Regimen(s) Completed NCT00028301 Phase 3 Atazanavir;Lopinavir/Ritonavir
32 A Comparison of Atazanavir and Nelfinavir, Each in Combination With 2 NRTIs, in Patients Who Have Failed Treatments Without a Protease Inhibitor Terminated NCT00028067 Phase 3 Atazanavir;Nelfinavir mesylate
33 T-20 With Anti-HIV Combination Therapy for Patients With Prior Anti-HIV Drug Treatment and/or Drug Resistance to Each of the Three Classes of Approved Anti-HIV Drugs Completed NCT00008528 Phase 3 Enfuvirtide
34 Effectiveness of an HIV Vaccine in HIV-Negative Adults in North America Who Are at Risk of HIV Infection Completed NCT00002441 Phase 3
35 A Comparison of Three Anti-HIV Drug Combinations Containing Saquinavir Soft Gelatin Capsules Used in HIV-1 Infected Patients Completed NCT00002378 Phase 3 Ritonavir;Nelfinavir mesylate;Saquinavir;Delavirdine mesylate;Lamivudine;Stavudine;Zidovudine
36 Mesenchymal Stem Cells for Idiopathic Dilated Cardiomyopathy Unknown status NCT01957826 Phase 1, Phase 2
37 Intramuscular Injection of Mesenchymal Stem Cell for Treatment of Children With Idiopathic Dilated Cardiomyopathy Unknown status NCT01219452 Phase 1, Phase 2
38 Autologous Immunoregulatory Dendritic Cells for Type 1 Diabetes Therapy Unknown status NCT02354911 Phase 2
39 Dendritic Cells for Type 1 Diabetes Mellitus (T1DM) Therapy Unknown status NCT01947569 Phase 1, Phase 2
40 Darunavir/Ritonavir and Rosuvastatin Pharmacokinetic Study Unknown status NCT00885495 Phase 1, Phase 2 darunavir, ritonavir, rosuvastatin;rosuvastatin, darunavir, ritonavir
41 TNX-355 With Optimized Background Therapy (OBT) in Treatment-Experienced Subjects With HIV-1 Unknown status NCT00089700 Phase 2 TNX-355
42 The Safety and Effectiveness of Indinavir Plus Ritonavir Plus Two NRTIs in HIV-Infected Patients Who Need Early Intervention Treatment Unknown status NCT00005118 Phase 2 Indinavir sulfate;Ritonavir
43 Infusion Intracoronary of Mononuclear Autologous Adult no Expanded Stem Cells of Bone Marrow on Functional Recovery in Patients With Idiopathic Dilated Cardiomyopathy and Heart Failure. Recruiting NCT02033278 Phase 2 Infusion of autologous mononuclear bone marrow cells;Placebo infusion
44 Optimal Treatment of Veterans With PTSD and Comorbid OUD Recruiting NCT03605342 Phase 2 Buprenorphine
45 Intracoronary Transplantation of Bone Marrow Derived Mononuclear Cells in Pediatric Cardiomyopathy Completed NCT02256501 Phase 1, Phase 2
46 Intravenous Allopurinol to Improve Heart Function in Individuals With Dilated Cardiomyopathy Withdrawn NCT00281255 Phase 1, Phase 2 Allopurinol;Dobutamine
47 Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy Completed NCT00629096 Phase 2
48 PET Scan to Determine Areas of Blood Flow and Activity in the Hearts of Patients With Heart Disease Taking Beta-Blockers Completed NCT00001402 Phase 2
49 Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy Completed NCT01302171 Phase 2 granulocyte colony stimulating factor (GCSF)
50 Fathers for Change for Men With Co-occurring Domestic Violence and Substance Abuse Completed NCT01385553 Phase 1, Phase 2

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 30 LMNA

Anatomical Context for Cardiomyopathy, Dilated, 1a

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

42
Heart, Bone, Breast, Bone Marrow, Spinal Cord, Skin, Brain

Publications for Cardiomyopathy, Dilated, 1a

Articles related to Cardiomyopathy, Dilated, 1a:

(show all 15)
# Title Authors Year
1
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. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. ( 23644458 )
2013
5
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
6
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. ( 21085127 )
2011
7
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). ( 17250669 )
2007
8
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. ( 16278265 )
2006
9
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1. ( 16156025 )
2005
10
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. ( 15972724 )
2005
11
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. ( 12920062 )
2003
12
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. ( 12628721 )
2003
13
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. ( 12196663 )
2002
14
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. ( 10662742 )
2000
15
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. ( 10580070 )
1999

Variations for Cardiomyopathy, Dilated, 1a

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

76 (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

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

6 (show top 50) (show all 91)
# 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.178C> G (p.Arg60Gly) single nucleotide variant Pathogenic rs28928900 GRCh38 Chromosome 1, 156115096: 156115096
3 LMNA NM_170707.3(LMNA): c.254T> G (p.Leu85Arg) single nucleotide variant Pathogenic rs28933090 GRCh37 Chromosome 1, 156084963: 156084963
4 LMNA NM_170707.3(LMNA): c.254T> G (p.Leu85Arg) single nucleotide variant Pathogenic rs28933090 GRCh38 Chromosome 1, 156115172: 156115172
5 LMNA NM_001282624.1(LMNA): c.342C> G (p.Asn114Lys) single nucleotide variant Pathogenic rs28933091 GRCh37 Chromosome 1, 156104265: 156104265
6 LMNA NM_001282624.1(LMNA): c.342C> G (p.Asn114Lys) single nucleotide variant Pathogenic rs28933091 GRCh38 Chromosome 1, 156134474: 156134474
7 LMNA NM_170707.3(LMNA): c.608A> G (p.Glu203Gly) single nucleotide variant Pathogenic rs28933092 GRCh37 Chromosome 1, 156104288: 156104288
8 LMNA NM_170707.3(LMNA): c.608A> G (p.Glu203Gly) single nucleotide variant Pathogenic rs28933092 GRCh38 Chromosome 1, 156134497: 156134497
9 LMNA NM_005572.3(LMNA): c.1711C> A (p.Arg571Ser) single nucleotide variant Uncertain significance rs80338938 GRCh37 Chromosome 1, 156107547: 156107547
10 LMNA NM_005572.3(LMNA): c.1711C> A (p.Arg571Ser) single nucleotide variant Uncertain significance rs80338938 GRCh38 Chromosome 1, 156137756: 156137756
11 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
12 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
13 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh37 Chromosome 1, 156105714: 156105714
14 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh38 Chromosome 1, 156135923: 156135923
15 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
16 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
17 LMNA NM_170707.3(LMNA): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933093 GRCh37 Chromosome 1, 156100532: 156100532
18 LMNA NM_170707.3(LMNA): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933093 GRCh38 Chromosome 1, 156130741: 156130741
19 LMNA NM_170707.3(LMNA): c.1718C> T (p.Ser573Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs60890628 GRCh37 Chromosome 1, 156108298: 156108298
20 LMNA NM_170707.3(LMNA): c.1718C> T (p.Ser573Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs60890628 GRCh38 Chromosome 1, 156138507: 156138507
21 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
22 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
23 LMNA NM_170707.3(LMNA): c.1930C> T (p.Arg644Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142000963 GRCh37 Chromosome 1, 156108510: 156108510
24 LMNA NM_170707.3(LMNA): c.1930C> T (p.Arg644Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142000963 GRCh38 Chromosome 1, 156138719: 156138719
25 LMNA NM_170707.3(LMNA): c.1621C> G (p.Arg541Gly) single nucleotide variant Pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
26 LMNA NM_170707.3(LMNA): c.1621C> G (p.Arg541Gly) single nucleotide variant Pathogenic rs56984562 GRCh38 Chromosome 1, 156137666: 156137666
27 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
28 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
29 LMNA NM_170707.3(LMNA): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic/Likely pathogenic rs267607578 GRCh37 Chromosome 1, 156106743: 156106743
30 LMNA NM_170707.3(LMNA): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic/Likely pathogenic rs267607578 GRCh38 Chromosome 1, 156136952: 156136952
31 MYBPC3 NM_000256.3(MYBPC3): c.977G> A (p.Arg326Gln) single nucleotide variant Benign/Likely benign rs34580776 GRCh37 Chromosome 11, 47367871: 47367871
32 MYBPC3 NM_000256.3(MYBPC3): c.977G> A (p.Arg326Gln) single nucleotide variant Benign/Likely benign rs34580776 GRCh38 Chromosome 11, 47346320: 47346320
33 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh37 Chromosome 1, 156105884: 156105884
34 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh38 Chromosome 1, 156136093: 156136093
35 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
36 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
37 LMNA NM_170707.3(LMNA): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic/Likely pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
38 LMNA NM_170707.3(LMNA): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic/Likely pathogenic rs56984562 GRCh38 Chromosome 1, 156137666: 156137666
39 LMNA NM_170707.3(LMNA): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs61195471 GRCh37 Chromosome 1, 156104287: 156104287
40 LMNA NM_170707.3(LMNA): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs61195471 GRCh38 Chromosome 1, 156134496: 156134496
41 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
42 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh38 Chromosome 1, 156134838: 156134838
43 LMNA NM_170707.3(LMNA): c.976T> A (p.Ser326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs56851164 GRCh37 Chromosome 1, 156105731: 156105731
44 LMNA NM_170707.3(LMNA): c.976T> A (p.Ser326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs56851164 GRCh38 Chromosome 1, 156135940: 156135940
45 LMNA NM_170707.3(LMNA): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs61295588 GRCh37 Chromosome 1, 156104600: 156104600
46 LMNA NM_170707.3(LMNA): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs61295588 GRCh38 Chromosome 1, 156134809: 156134809
47 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
48 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
49 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh37 Chromosome 1, 156106090: 156106090
50 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh38 Chromosome 1, 156136299: 156136299

Expression for Cardiomyopathy, Dilated, 1a

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

Pathways for Cardiomyopathy, Dilated, 1a

GO Terms for Cardiomyopathy, Dilated, 1a

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.62 HAND2 LMNA

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