CMD1A
MCID: CRD093
MIFTS: 57

Cardiomyopathy, Dilated, 1a (CMD1A)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1a

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1a:

Name: Cardiomyopathy, Dilated, 1a 57 13
Dilated Cardiomyopathy 1a 12 29 6 15
Cmd1a 57 12 75
Cdcd1 57 12 75
Cardiomyopathy, Familial Idiopathic 57 73
Familial Dilated Cardiomyopathy with Conduction Defect Due to Lmna Mutation 12
Cardiomyopathy, Dilated, with Conduction Defect 1; Cdcd1 57
Cardiomyopathy Dilated with Conduction Defect Type 1 53
Cardiomyopathy, Dilated, with Conduction Defect 1 57
Dilated Cardiomyopathy with Conduction Defect 1 12
Cardiomyopathy Dilated with Conduction Defect 1 75
Cardiomyopathy, Idiopathic Dilated 57
Cardiomyopathy, Dilated, Type 1a 40
Cardiomyopathy, Congestive 57
Cardiomyopathy, Dilated 1a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? a recessive form also


HPO:

32
cardiomyopathy, dilated, 1a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115200
Disease Ontology 12 DOID:0110425
MedGen 42 C1449563
MeSH 44 D002311
UMLS 73 C1449563

Summaries for Cardiomyopathy, Dilated, 1a

OMIM : 57 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 dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1a is LMNA (Lamin A/C), and among its related pathways/superpathways are Cardiac conduction and Pathways in cancer. The drugs Cefazolin and Vancomycin 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 : 75 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
Dmd-Related Dilated 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 top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital merosin-deficient, 1a 31.1 DAG1 DMD LAMA2 LMNA
2 dilated cardiomyopathy 30.8 DAG1 DMD EMD LAMA2 LDB3 LMNA
3 cardiomyopathy, dilated, 1h 29.7 EMD LMNA SNCA
4 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.2
5 cardiomyopathy, dilated, 1l 11.0
6 emerinopathy 10.7 EMD LMNA
7 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.6 EMD LMNA
8 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.6 LDB3 LMNA
9 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.6 LDB3 LMNA
10 myopathy, proximal, and ophthalmoplegia 10.6 EMD LMNA
11 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.6 LDB3 LMNA
12 muscular dystrophy, limb-girdle, type 1b 10.5 EMD LMNA
13 pelger-huet anomaly 10.4 EMD LMNA
14 isolated hyperckemia 10.2 DMD LAMA2
15 autosomal dominant limb-girdle muscular dystrophy 10.2 EMD LMNA
16 gestational choriocarcinoma 10.1 CALM1 CALM3
17 creatine phosphokinase, elevated serum 10.1 DMD LAMA2
18 muscular dystrophy, congenital, lmna-related 10.1 DAG1 EMD LAMA2 LMNA
19 muscular dystrophy, limb-girdle, type 2c 10.1 DAG1 DMD
20 myopathy, x-linked, with excessive autophagy 10.0 DMD EMD LAMA2
21 congenital fiber-type disproportion 10.0 DMD EMD LMNA
22 atrial standstill 1 9.9 DMD EMD LMNA
23 neuromuscular disease 9.9 DMD EMD LAMA2
24 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DAG1 DMD LAMA2
25 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DAG1 DMD LAMA2
26 muscle eye brain disease 9.9 DAG1 DMD LAMA2
27 acute dacryocystitis 9.8 CALM1 CALM2 CALM3
28 myopathy, myofibrillar, 2 9.8 DMD LDB3
29 external ear disease 9.8 CALM1 CALM2 CALM3
30 long qt syndrome 15 9.8 CALM1 CALM2 CALM3
31 otitis externa 9.8 CALM1 CALM2 CALM3
32 otomycosis 9.8 CALM1 CALM2 CALM3
33 spontaneous ocular nystagmus 9.8 CALM1 CALM2 CALM3
34 sporotrichosis 9.8 CALM1 CALM2 CALM3
35 deafness, autosomal recessive 44 9.8 CALM1 CALM2 CALM3
36 dystonia 24 9.8 CALM1 CALM2 CALM3
37 triosephosphate isomerase deficiency 9.8 CALM1 CALM2 CALM3
38 leber congenital amaurosis 2 9.8 CALM1 CALM2 CALM3
39 left ventricular noncompaction 9.8 DMD LDB3 LMNA
40 primary systemic mycosis 9.8 CALM1 CALM2 CALM3
41 clear cell acanthoma 9.8 CALM1 CALM2 CALM3
42 myocarditis 9.8
43 cardiomyopathy, dilated, 1p 9.8 CALM1 CALM2 CALM3
44 deafness, autosomal dominant 2a 9.8 CALM1 CALM2 CALM3
45 walker-warburg syndrome 9.8 DAG1 DMD LAMA2
46 primary cutaneous amyloidosis 9.7 CALM1 CALM2 CALM3
47 catecholaminergic polymorphic ventricular tachycardia 9.7 CALM1 CALM2 CALM3
48 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
49 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 DAG1 DMD LAMA2 LMNA
50 arrhythmogenic right ventricular cardiomyopathy 9.6 DMD EMD LDB3 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cardiomyopathy, Dilated, 1a:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 dilated cardiomyopathy 32 HP:0001644
3 pericardial effusion 32 HP:0001698
4 ventricular arrhythmia 32 HP:0004308
5 atrial flutter 32 HP:0004749
6 atrial fibrillation 32 HP:0005110

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 SNCA DAG1 DMD EMD HPGDS LAMA2
2 homeostasis/metabolism MP:0005376 9.61 SNCA SREBF1 DAG1 DMD EMD HPGDS
3 muscle MP:0005369 9.1 DAG1 DMD EMD LAMA2 LDB3 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 220)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cefazolin Approved Phase 4 25953-19-9 656510 33255
2
Vancomycin Approved Phase 4 1404-90-6 441141 14969
3
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
4
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
5
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
6
Nelfinavir Approved Phase 4,Phase 3,Phase 2,Not Applicable 159989-64-7 64143
7
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
8
Doxazosin Approved Phase 4 74191-85-8 3157
9
Metoprolol Approved, Investigational Phase 4,Phase 2 37350-58-6, 51384-51-1 4171
10
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
12
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
13
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 44475014
14
Iron Approved Phase 4 7439-89-6 23925
15
Abacavir Approved, Investigational Phase 4,Phase 2 136470-78-5 65140 441300
16
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 134678-17-4 60825
17
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 3056-17-5 18283
18
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
19
Adenosine Approved, Investigational Phase 4 58-61-7 60961
20
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
21
Acetaminophen Approved Phase 4 103-90-2 1983
22
Morphine Approved, Investigational Phase 4 57-27-2 5288826
23
Verapamil Approved Phase 4 52-53-9 2520
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
25
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
27
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
28
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 4 13422-55-4
29 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3
30 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
35 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
36 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
37 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41
Tenofovir Phase 4 147127-20-6 464205
42 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
43 Calcium, Dietary Phase 4,Phase 1,Phase 2,Not Applicable
44 Micronutrients Phase 4
45 Trace Elements Phase 4
46 Ubiquinone Phase 4
47 Vitamins Phase 4
48 Adrenergic Agents Phase 4,Phase 2,Phase 1
49 Adrenergic alpha-1 Receptor Antagonists Phase 4
50 Adrenergic alpha-Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 The Use of Ceftaroline as Surgical Prophylaxis in Surgery With Risk of MRSA Infection Unknown status NCT02307006 Phase 4 Ceftaroline;Cefazolin / Vancomycin
2 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)
3 Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy Completed NCT02115581 Phase 4 Coenzyme Q10;Placebo
4 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
5 Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy Completed NCT01917149 Phase 4 Benazepril;Valsartan;Metoprolol
6 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
7 A Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients Completed NCT00005106 Phase 4 Lamivudine/Zidovudine;Abacavir sulfate;Nelfinavir mesylate;Lamivudine;Stavudine
8 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
9 Pulse Reduction On Beta-blocker and Ivabradine Therapy Recruiting NCT02973594 Phase 4 Ivabradine;Placebo
10 A Study Comparing Reduction in Pain Intensity Following IV or Oral Acetaminophen Active, not recruiting NCT02678416 Phase 4 IV Acetaminophen;IV Morphine;Acetaminophen tablets
11 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
12 3TC or No 3TC for HIV With 3TC Resistance Suspended NCT00143728 Phase 4 Lamivudine
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 Effectiveness and Safety of Two Forms of Stavudine in HIV-Infected Patients Completed NCT00005918 Phase 3 Efavirenz;Lamivudine;Stavudine
25 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
26 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
27 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
28 Effectiveness of an HIV Vaccine in HIV-Negative Adults in North America Who Are at Risk of HIV Infection Completed NCT00002441 Phase 3
29 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
30 Dysport® Treatment of Urinary Incontinence in Adults Subjects With Neurogenic Detrusor Overactivity (NDO) Due to Spinal Cord Injury or Multiple Sclerosis - Study 1 Recruiting NCT02660138 Phase 3 AbobotulinumtoxinA;AbobotulinumtoxinA;AbobotulinumtoxinA Placebo;AbobotulinumtoxinA Placebo
31 CGM Intervention in Teens and Young Adults With Type 1 Diabetes (T1D) Recruiting NCT03263494 Phase 3
32 Study of OnabotulinumtoxinA for Urinary Incontinence Due to Neurogenic Detrusor Overactivity in Pediatric Patients Active, not recruiting NCT01852045 Phase 3
33 Efficacy and Safety Study of GSK1358820 in Japanese Patients With Urinary Incontinence Due to Neurogenic Detrusor Overactivity Active, not recruiting NCT02849418 Phase 3 GSK1358820;Placebo
34 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
35 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
36 Intramuscular Injection of Mesenchymal Stem Cell for Treatment of Children With Idiopathic Dilated Cardiomyopathy Unknown status NCT01219452 Phase 1, Phase 2
37 Dendritic Cells for Type 1 Diabetes Mellitus (T1DM) Therapy Unknown status NCT01947569 Phase 1, Phase 2
38 Darunavir/Ritonavir and Rosuvastatin Pharmacokinetic Study Unknown status NCT00885495 Phase 1, Phase 2 darunavir, ritonavir, rosuvastatin;rosuvastatin, darunavir, ritonavir
39 TNX-355 With Optimized Background Therapy (OBT) in Treatment-Experienced Subjects With HIV-1 Unknown status NCT00089700 Phase 2 TNX-355
40 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
41 Intracoronary Transplantation of Bone Marrow Derived Mononuclear Cells in Pediatric Cardiomyopathy Completed NCT02256501 Phase 1, Phase 2
42 Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy Completed NCT00629096 Phase 2
43 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
44 Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy Completed NCT01302171 Phase 2 granulocyte colony stimulating factor (GCSF)
45 Fathers for Change for Men With Co-occurring Domestic Violence and Substance Abuse Completed NCT01385553 Phase 1, Phase 2
46 Activity of Mefloquine Against Urinary Schistosomiasis Completed NCT01132248 Phase 2 Mefloquine;S/P
47 Cognitive Behavioral Therapy for Post Traumatic Stress Disorder in Addiction Treatment Completed NCT01456338 Phase 2
48 Metabolic Manipulation in Chronic Heart Failure Completed NCT00841139 Phase 2 Perhexiline;Placebo
49 Early Versus Delayed Pneumococcal Vaccination in HIV Completed NCT00137605 Phase 1, Phase 2
50 A Study to Compare Two Anti-HIV Drug Combinations That Include Amprenavir in HIV-Infected Patients Who Have Failed Anti-HIV Drug Combinations That Did Not Include Amprenavir Completed NCT00002423 Phase 2 Indinavir sulfate;Abacavir sulfate;Amprenavir;Nelfinavir mesylate;Lamivudine

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:

41
Heart, Bone, Breast, Bone Marrow, Spinal Cord, Prostate, Skin

Publications for Cardiomyopathy, Dilated, 1a

Articles related to Cardiomyopathy, Dilated, 1a:

# Title Authors Year
1
Gene symbol: LMNA. Disease: cardiomyopathy, dilated, with conduction defect 1. ( 16156025 )
2005

Variations for Cardiomyopathy, Dilated, 1a

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

75 (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 71)
# 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_170707.3(LMNA): c.585C> G (p.Asn195Lys) single nucleotide variant Pathogenic rs28933091 GRCh37 Chromosome 1, 156104265: 156104265
6 LMNA NM_170707.3(LMNA): c.585C> G (p.Asn195Lys) 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 Pathogenic rs80338938 GRCh37 Chromosome 1, 156107547: 156107547
10 LMNA NM_005572.3(LMNA): c.1711C> A (p.Arg571Ser) single nucleotide variant Pathogenic rs80338938 GRCh38 Chromosome 1, 156137756: 156137756
11 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh37 Chromosome 1, 156105714: 156105714
12 LMNA NM_005572.3(LMNA): c.959delT (p.Arg321Glufs) deletion Pathogenic rs56771886 GRCh38 Chromosome 1, 156135923: 156135923
13 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
14 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
15 LMNA NM_170707.3(LMNA): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs28933093 GRCh37 Chromosome 1, 156100532: 156100532
16 LMNA NM_170707.3(LMNA): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs28933093 GRCh38 Chromosome 1, 156130741: 156130741
17 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
18 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
19 LMNA NM_170707.3(LMNA): c.1621C> G (p.Arg541Gly) single nucleotide variant Pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
20 LMNA NM_170707.3(LMNA): c.1621C> G (p.Arg541Gly) single nucleotide variant Pathogenic rs56984562 GRCh38 Chromosome 1, 156137666: 156137666
21 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
22 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
23 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh37 Chromosome 1, 156105884: 156105884
24 LMNA NM_170707.3(LMNA): c.1129C> T (p.Arg377Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397517889 GRCh38 Chromosome 1, 156136093: 156136093
25 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
26 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
27 LMNA NM_170707.3(LMNA): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic rs56984562 GRCh37 Chromosome 1, 156107457: 156107457
28 LMNA NM_170707.3(LMNA): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic rs56984562 GRCh38 Chromosome 1, 156137666: 156137666
29 LMNA NM_170707.3(LMNA): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs61195471 GRCh37 Chromosome 1, 156104287: 156104287
30 LMNA NM_170707.3(LMNA): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs61195471 GRCh38 Chromosome 1, 156134496: 156134496
31 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
32 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh38 Chromosome 1, 156134838: 156134838
33 LMNA NM_170707.3(LMNA): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs61295588 GRCh37 Chromosome 1, 156104600: 156104600
34 LMNA NM_170707.3(LMNA): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs61295588 GRCh38 Chromosome 1, 156134809: 156134809
35 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh37 Chromosome 1, 156107442: 156107442
36 LMNA NM_170707.3(LMNA): c.1609-3C> G single nucleotide variant Pathogenic/Likely pathogenic rs267607581 GRCh38 Chromosome 1, 156137651: 156137651
37 LMNA NM_170707.3(LMNA): c.1622G> C (p.Arg541Pro) single nucleotide variant Pathogenic/Likely pathogenic rs61444459 GRCh37 Chromosome 1, 156107458: 156107458
38 LMNA NM_170707.3(LMNA): c.1622G> C (p.Arg541Pro) single nucleotide variant Pathogenic/Likely pathogenic rs61444459 GRCh38 Chromosome 1, 156137667: 156137667
39 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh37 Chromosome 1, 156084738: 156084738
40 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh38 Chromosome 1, 156114947: 156114947
41 LMNA NM_170707.3(LMNA): c.497G> C (p.Arg166Pro) single nucleotide variant Pathogenic/Likely pathogenic rs267607570 GRCh37 Chromosome 1, 156100548: 156100548
42 LMNA NM_170707.3(LMNA): c.497G> C (p.Arg166Pro) single nucleotide variant Pathogenic/Likely pathogenic rs267607570 GRCh38 Chromosome 1, 156130757: 156130757
43 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh37 Chromosome 1, 156104248: 156104248
44 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh38 Chromosome 1, 156134457: 156134457
45 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh37 Chromosome 1, 156104702: 156104702
46 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh38 Chromosome 1, 156134911: 156134911
47 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh37 Chromosome 1, 156105075: 156105076
48 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh38 Chromosome 1, 156135284: 156135285
49 MYBPC3 NM_000256.3(MYBPC3): c.478C> T (p.Arg160Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs193068692 NCBI36 Chromosome 11, 47328168: 47328168
50 MYBPC3 NM_000256.3(MYBPC3): c.478C> T (p.Arg160Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs193068692 GRCh37 Chromosome 11, 47371592: 47371592

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:

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 CALM1 CALM2 CALM3 DMD
2 12.74 CALM1 CALM2 CALM3 LAMA2
3
Show member pathways
12.67 CALM1 CALM2 CALM3 DAG1 DMD LAMA2
4
Show member pathways
12.23 CALM1 CALM2 CALM3
5
Show member pathways
12.21 CALM1 CALM2 CALM3
6
Show member pathways
12.18 CALM1 CALM2 CALM3
7
Show member pathways
12.17 CALM1 CALM2 CALM3
8
Show member pathways
12.16 CALM1 CALM2 CALM3
9
Show member pathways
12.16 CALM1 CALM2 CALM3
10 12.14 CALM1 CALM2 CALM3
11
Show member pathways
12.12 CALM1 CALM2 CALM3
12
Show member pathways
12.12 CALM1 CALM2 CALM3
13
Show member pathways
12.09 CALM1 CALM2 CALM3
14
Show member pathways
12.09 CALM1 CALM2 CALM3
15
Show member pathways
12.07 CALM1 CALM2 CALM3
16 12.07 CALM1 CALM2 CALM3
17
Show member pathways
12.06 CALM1 CALM2 CALM3
18
Show member pathways
12.06 DAG1 DMD EMD LAMA2 LMNA
19
Show member pathways
12.04 CALM1 CALM2 CALM3
20 12 CALM1 CALM2 CALM3
21 11.99 CALM1 CALM2 CALM3
22
Show member pathways
11.94 CALM1 CALM2 CALM3
23
Show member pathways
11.92 CALM1 CALM2 CALM3
24
Show member pathways
11.89 CALM1 CALM2 CALM3
25
Show member pathways
11.87 CALM1 CALM2 CALM3
26 11.85 CALM1 CALM2 CALM3
27 11.84 CALM1 CALM2 CALM3
28 11.82 CALM1 CALM2 CALM3
29
Show member pathways
11.82 CALM1 CALM2 CALM3
30
Show member pathways
11.79 CALM1 CALM2 CALM3
31
Show member pathways
11.78 CALM1 CALM2 CALM3
32
Show member pathways
11.72 CALM1 CALM2 CALM3
33
Show member pathways
11.71 CALM1 CALM2 CALM3
34
Show member pathways
11.69 CALM1 CALM2 CALM3
35 11.68 CALM1 CALM2 CALM3
36
Show member pathways
11.67 CALM1 CALM2 CALM3
37 11.66 CALM1 CALM2 CALM3
38
Show member pathways
11.61 CALM1 CALM2 CALM3
39
Show member pathways
11.61 DAG1 DMD LAMA2
40 11.59 CALM1 CALM2 CALM3
41
Show member pathways
11.59 DAG1 DMD EMD LAMA2 LMNA
42 11.56 CALM1 CALM2 CALM3
43
Show member pathways
11.56 CALM1 CALM2 CALM3 DAG1 DMD LMNA
44
Show member pathways
11.55 CALM1 CALM2 CALM3
45 11.46 CALM1 CALM2 CALM3
46 11.44 CALM1 CALM2 CALM3
47 11.3 CALM1 CALM2 CALM3
48 11.29 CALM1 CALM2 CALM3
49 11.27 CALM1 CALM2 CALM3
50 11.26 CALM1 CALM2

GO Terms for Cardiomyopathy, Dilated, 1a

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.77 CALM1 CALM2 CALM3 DMD SREBF1
2 spindle GO:0005819 9.72 CALM1 CALM2 CALM3
3 vesicle GO:0031982 9.71 CALM1 CALM2 CALM3
4 nuclear envelope GO:0005635 9.7 EMD LMNA SREBF1
5 cytoskeleton GO:0005856 9.7 CALM1 CALM2 CALM3 DAG1 DMD LDB3
6 spindle pole GO:0000922 9.63 CALM1 CALM2 CALM3
7 sarcolemma GO:0042383 9.58 DAG1 DMD LAMA2
8 sarcomere GO:0030017 9.5 CALM1 CALM2 CALM3
9 nuclear outer membrane GO:0005640 9.49 EMD SNCA
10 costamere GO:0043034 9.48 DAG1 DMD
11 dystrophin-associated glycoprotein complex GO:0016010 9.43 DAG1 DMD
12 spindle microtubule GO:0005876 9.43 CALM1 CALM2 CALM3
13 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
14 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3
15 cytoplasm GO:0005737 10.21 CALM1 CALM2 CALM3 DAG1 DMD EMD

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.88 DAG1 DMD SNCA SREBF1
2 muscle organ development GO:0007517 9.8 DMD EMD LAMA2
3 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.77 CALM1 CALM2 CALM3
5 regulation of cytokinesis GO:0032465 9.75 CALM1 CALM2 CALM3
6 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.74 CALM1 CALM2 CALM3
7 positive regulation of protein autophosphorylation GO:0031954 9.73 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.72 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction GO:0055117 9.71 CALM1 CALM2 CALM3
10 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.7 CALM1 CALM2 CALM3
11 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.69 CALM1 CALM2 CALM3
12 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.67 CALM1 CALM2 CALM3
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.67 CALM1 CALM2 CALM3 SNCA
14 detection of calcium ion GO:0005513 9.65 CALM1 CALM2 CALM3
15 skeletal muscle tissue regeneration GO:0043403 9.63 DAG1 DMD
16 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.63 CALM1 DMD
17 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.63 CALM1 CALM2 CALM3
18 response to denervation involved in regulation of muscle adaptation GO:0014894 9.62 DAG1 DMD
19 regulation of heart rate GO:0002027 9.62 CALM1 CALM2 CALM3 DMD
20 mitotic nuclear envelope reassembly GO:0007084 9.61 EMD LMNA
21 Schwann cell differentiation GO:0014037 9.61 DAG1 LAMA2
22 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.61 CALM1 CALM2 CALM3
23 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.58 CALM1 CALM2 CALM3
24 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.43 CALM1 CALM2 CALM3
25 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.33 CALM1 CALM2 CALM3
26 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.26 CALM1 CALM2 CALM3 DMD
27 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 8.92 CALM1 CALM2 CALM3 DMD

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 CALM1 CALM2 CALM3 DAG1 HPGDS SNCA
2 protein kinase binding GO:0019901 9.83 CALM1 CALM2 CALM3 SREBF1
3 protein domain specific binding GO:0019904 9.73 CALM1 CALM2 CALM3 SNCA
4 ion channel binding GO:0044325 9.69 CALM1 CALM2 CALM3
5 disordered domain specific binding GO:0097718 9.58 CALM1 CALM2 CALM3
6 protein serine/threonine kinase activator activity GO:0043539 9.5 CALM1 CALM2 CALM3
7 calcium channel inhibitor activity GO:0019855 9.49 CALM1 CALM2
8 vinculin binding GO:0017166 9.48 DAG1 DMD
9 dystroglycan binding GO:0002162 9.46 DAG1 DMD
10 titin binding GO:0031432 9.43 CALM1 CALM2 CALM3
11 adenylate cyclase binding GO:0008179 9.33 CALM1 CALM2 CALM3
12 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
13 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Cardiomyopathy, Dilated, 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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