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MCID: LFT003
MIFTS: 52

Left Ventricular Noncompaction

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Left Ventricular Noncompaction

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MalaCards integrated aliases for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 12 53 25 59 37 29 6 15 73
Left Ventricular Hypertrabeculation 12 53 25 59
Noncompaction Cardiomyopathy 25 6 73
Spongy Myocardium 53 25 59
Left Ventricular Myocardial Noncompaction Cardiomyopathy 25 73
Lvnc 53 59
Isolated Noncompaction of the Ventricular Myocardium 25
Non-Compaction of the Left Ventricular Myocardium 25
Left Ventricular Non-Compaction 25
Ventricular Noncompaction, Left 40
Hypertrabeculation Syndrome 25
Honeycomb Myocardium 25
Fetal Myocardium 25
Lvht 25

Characteristics:

Orphanet epidemiological data:

59
left ventricular noncompaction
Inheritance: Autosomal dominant,Mitochondrial inheritance,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0060480
Orphanet 59 ORPHA54260
UMLS via Orphanet 74 C1960469
ICD10 via Orphanet 34 I42.8
KEGG 37 H01216
Sources

Summaries for Left Ventricular Noncompaction

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Genetics Home Reference : 25 Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.

MalaCards based summary : Left Ventricular Noncompaction, also known as left ventricular hypertrabeculation, is related to barth syndrome and cardiomyopathy, dilated, 1e. An important gene associated with Left Ventricular Noncompaction is TTN (Titin), and among its related pathways/superpathways are Cardiac muscle contraction and Cardiac conduction. Affiliated tissues include heart, kidney and testes, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.

NIH Rare Diseases : 53 Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.

Wikipedia : 76 Non-compaction cardiomyopathy (NCC), also called spongiform cardiomyopathy, is a rare congenital... more...

Sources

Related Diseases for Left Ventricular Noncompaction

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Diseases in the Left Ventricular Noncompaction family:

Left Ventricular Noncompaction 1 Left Ventricular Noncompaction 2
Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 8
Left Ventricular Noncompaction 10

Diseases related to Left Ventricular Noncompaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 barth syndrome 33.7 DTNA LDB3 TAZ
2 cardiomyopathy, dilated, 1e 32.9 LMNA MYH7 NKX2-5 SCN5A TPM1 TTN
3 peripartum cardiomyopathy 31.8 MYH7 SCN5A TTN
4 cardiac arrest 31.2 MYBPC3 SCN5A TNNT2
5 myopathy 31.2 DTNA LDB3 LMNA MYH7 TAZ TTN
6 syncope 31.1 ACTN2 SCN5A TTN
7 cardiac conduction defect 31.1 LMNA MYBPC3 MYH7 SCN5A
8 hypertrophic cardiomyopathy 31.0 ACTC1 ACTN2 LDB3 LMNA MYBPC3 MYH7
9 ebstein anomaly 30.7 MYH7 NKX2-5 TPM1
10 ventricular fibrillation, paroxysmal familial, 1 30.6 NKX2-5 SCN5A TNNT2
11 atrioventricular block 30.4 LMNA NKX2-5 SCN5A
12 heart disease 28.4 ACTC1 LMNA MYBPC3 MYH7 NKX2-5 PKP2
13 dilated cardiomyopathy 27.9 ACTC1 ACTN2 DTNA LDB3 LMNA MYBPC3
14 left ventricular noncompaction 1 12.6
15 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.4
16 left ventricular noncompaction 7 12.4
17 left ventricular noncompaction 8 12.4
18 left ventricular noncompaction 10 12.4
19 left ventricular noncompaction 2 12.4
20 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.3
21 cardiomyopathy, dilated, 1d 11.6
22 cardiomyopathy, dilated, 1r 11.5
23 combined oxidative phosphorylation deficiency 31 11.2
24 myopathy, spheroid body 11.0 LDB3 MYH7 TTN
25 myopathy, myofibrillar, 4 11.0 ACTN2 DTNA LDB3
26 endocardial fibroelastosis 11.0 ACTN2 MYH7 TAZ
27 first-degree atrioventricular block 10.9 MYH7 SCN5A
28 muscular dystrophy, limb-girdle, type 2j 10.9 LDB3 TTN
29 cardiomyopathy, familial hypertrophic, 4 10.8 MYBPC3 TTN
30 restrictive cardiomyopathy 10.8 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
31 myopathy, myofibrillar, 3 10.7 LDB3 TTN
32 progressive familial heart block 10.6 SCN5A TNNT2
33 familial progressive cardiac conduction defect 10.5 NKX2-5 SCN5A
34 familial isolated dilated cardiomyopathy 10.3 ACTC1 ACTN2 LDB3 MYBPC3 MYH7 PRDM16
35 angina pectoris 10.1
36 cor triatriatum 10.1
37 atrial fibrillation 10.1
38 ventricular septal defect 10.1
39 long qt syndrome 10.1
40 double-orifice mitral valve 10.1
41 myotonic dystrophy 1 10.0
42 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 LDB3 LMNA PKP2 TTN
43 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 LDB3 LMNA PKP2 TTN
44 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.0 LDB3 LMNA PKP2 TTN
45 sotos syndrome 1 10.0
46 ceroid lipofuscinosis, neuronal, 3 10.0
47 fabry disease 10.0
48 myocardial infarction 10.0
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
50 pulmonary hypertension 10.0

Graphical network of the top 20 diseases related to Left Ventricular Noncompaction:



Diseases related to Left Ventricular Noncompaction
Sources

Symptoms & Phenotypes for Left Ventricular Noncompaction

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MGI Mouse Phenotypes related to Left Ventricular Noncompaction:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
2 growth/size/body region MP:0005378 10 ACTC1 DTNA LDB3 LMNA MIB1 NKX2-5
3 mortality/aging MP:0010768 9.93 ACTC1 DTNA LDB3 LMNA MIB1 NKX2-5
4 muscle MP:0005369 9.7 LDB3 LMNA MYBPC3 MYH7 NKX2-5 PKP2
5 normal MP:0002873 9.23 ACTC1 LMNA MIB1 NKX2-5 PRDM16 SCN5A
Sources

Drugs & Therapeutics for Left Ventricular Noncompaction

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy Completed NCT01481298
2 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014
3 Training-induced Increased Left Ventricular Trabeculation Completed NCT02568072
4 Prognosis of Isolated Left Ventricular Non-compaction in Adults Recruiting NCT02885363 Not Applicable
5 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
6 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
7 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
8 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092

Search NIH Clinical Center for Left Ventricular Noncompaction

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Genetic Tests for Left Ventricular Noncompaction

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Genetic tests related to Left Ventricular Noncompaction:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 29
Sources

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

41
Heart, Kidney, Testes
Sources

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 399)
# Title Authors Year
1
Successful Treatment of an Infant with Left Ventricular Noncompaction Presenting with Fatal Ventricular Arrhythmia Treated with Cardiac Resynchronization Therapy and an Implantable Cardioverter Defibrillator. ( 29808126 )
2018
2
Improvement of the Diagnosis of Left Ventricular Noncompaction Cardiomyopathy After Analyzing Both Advantages and Disadvantages of Echocardiography and CMRI. ( 29859913 )
2018
3
Left Ventricular Noncompaction: From Physiologic Remodeling to NoncompactionA Cardiomyopathy. ( 29447732 )
2018
4
Echocardiographic and clinical markers of left ventricular ejection fraction and moderate or greater systolic dysfunction in left ventricular noncompaction cardiomyopathy. ( 29577407 )
2018
5
Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction. ( 29568952 )
2018
6
Predictors of poor outcome in patients with left ventricular noncompaction: Review of the literature. ( 29558024 )
2018
7
Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease. ( 29755943 )
2018
8
Cardiomyopathy Phenotypes and Pregnancy Outcomes with Left Ventricular Noncompaction Cardiomyopathy. ( 29794382 )
2018
9
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarker, and speckle imaging. ( 29960849 )
2018
10
Anticoagulation Therapy in Specific Cardiomyopathies: Isolated Left Ventricular Noncompaction and Peripartum Cardiomyopathy. ( 29911432 )
2018
11
Usefulness of a left ventricular assist device in patients with left ventricular noncompaction. ( 29686556 )
2018
12
Whole-Exome Sequencing Reveals <i>GATA4</i> and <i>PTEN</i> Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction. ( 29874181 )
2018
13
Potential Common Pathogenic Pathways for the Left Ventricular Noncompaction Cardiomyopathy (LVNC). ( 29766225 )
2018
14
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
15
A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. ( 29629024 )
2018
16
The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery. ( 29203216 )
2018
17
Response by Towbin and Jefferies to Letter Regarding Article, &amp;quot;Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism&amp;quot;. ( 29217716 )
2017
18
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. ( 28079110 )
2017
19
Left ventricular noncompaction or hypertrophic cardiomyopathy? Both! ( 28803523 )
2017
20
Left Ventricular Noncompaction Cardiomyopathy Presenting with Heart Failure in a 35-Year-Old Man. ( 28878579 )
2017
21
Left Ventricular Noncompaction in Older Patients. ( 28864371 )
2017
22
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
23
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. ( 28798025 )
2017
24
Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. ( 28912186 )
2017
25
Ventricular arrhythmias associated with left ventricular noncompaction: Electrophysiologic characteristics, mapping, and ablation. ( 27890738 )
2017
26
Acute Kidney Infarction Due to Left Ventricular Thrombus Embolization In Patient with Isolated Left Ventricular Noncompaction: A Case Report. ( 29272223 )
2017
27
Key Questions Relating to Left Ventricular Noncompaction Cardiomyopathy: Is the Emperor Still Wearing Any Clothes? ( 28395867 )
2017
28
Bradycardia, Syncope, and Left Ventricular Noncompaction Cardiomyopathy. ( 28645472 )
2017
29
Left ventricular noncompaction cardiomyopathy with severe coronary artery disease in a young patient with familial hypercholesterolemia. ( 28817544 )
2017
30
Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy. ( 29176328 )
2017
31
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. ( 28104484 )
2017
32
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. ( 28798026 )
2017
33
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature. ( 28488311 )
2017
34
Complications Associated With Implantable Cardioverter Defibrillators in Adults With Congenital Heart Disease or Left Ventricular Noncompaction Cardiomyopathy (From the NCDR(Ar) Implantable Cardioverter-Defibrillator Registry). ( 28917495 )
2017
35
Comparison of Echocardiographic Diagnostic Criteria of Left Ventricular Noncompaction in a Pediatric Population. ( 28776136 )
2017
36
Left Ventricular Noncompaction Cardiomyopathy and Recurrent Polymorphic Ventricular Tachycardia: A Case Report and Literature Review. ( 29035186 )
2017
37
Prevalence and Prognostic Significance of Left Ventricular Noncompaction in Patients Referred for Cardiac Magnetic Resonance Imaging. ( 28899950 )
2017
38
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. ( 28520539 )
2017
39
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. ( 28911804 )
2017
40
Left ventricular noncompaction associated with bicuspid aortic valve and aortic coarctation. ( 28522032 )
2017
41
Genetic Testing in Pediatric Left Ventricular Noncompaction. ( 29212898 )
2017
42
Can Left Ventricular Noncompaction Be Acquired, and Can It Disappear? ( 28878580 )
2017
43
Is Left Ventricular Noncompaction a Trait, Phenotype, or Disease? The Evidence Points to Phenotype. ( 29212902 )
2017
44
Ischemic Stroke in a Young Patient Heralding a Left Ventricular Noncompaction Cardiomyopathy. ( 28966588 )
2017
45
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction. ( 28855170 )
2017
46
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. ( 29118297 )
2017
47
Left ventricular noncompaction cardiomyopathy. ( 28469993 )
2017
48
Left Ventricular Noncompaction Combined With Epinephrine-Secreted Pheochromocytoma Inducing Heart Failure. ( 26973259 )
2016
49
Anesthetic experience of patient with isolated left ventricular noncompaction: a case report. ( 27274374 )
2016
50
Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction. ( 27798758 )
2016
Sources

Variations for Left Ventricular Noncompaction

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ClinVar genetic disease variations for Left Ventricular Noncompaction:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs587782958 GRCh38 Chromosome 11, 47333552: 47333552
2 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs587782958 GRCh37 Chromosome 11, 47355103: 47355103
3 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh37 Chromosome 1, 237949299: 237949299
4 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh38 Chromosome 1, 237785999: 237785999
5 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh37 Chromosome 10, 121431912: 121431912
6 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh38 Chromosome 10, 119672400: 119672400
7 TPM1 NM_001018005.1(TPM1): c.797A> G (p.Lys266Arg) single nucleotide variant Uncertain significance rs371934474 GRCh37 Chromosome 15, 63356287: 63356287
8 TPM1 NM_001018005.1(TPM1): c.797A> G (p.Lys266Arg) single nucleotide variant Uncertain significance rs371934474 GRCh38 Chromosome 15, 63064088: 63064088
9 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh37 Chromosome 17, 39912129: 39912129
10 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh38 Chromosome 17, 41755877: 41755877
11 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh38 Chromosome 14, 75980601: 75980601
12 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh37 Chromosome 14, 76446944: 76446944
13 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh37 Chromosome 13, 24380192: 24380192
14 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh38 Chromosome 13, 23806053: 23806053
15 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh37 Chromosome 13, 24460623: 24460623
16 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh38 Chromosome 13, 23886484: 23886484
17 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh37 Chromosome 13, 24443458: 24443458
18 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh38 Chromosome 13, 23869319: 23869319
19 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh37 Chromosome 13, 24380133: 24380133
20 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh38 Chromosome 13, 23805994: 23805994
21 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh37 Chromosome 13, 24436467: 24436467
22 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh38 Chromosome 13, 23862328: 23862328
23 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh37 Chromosome 13, 24411700: 24411700
24 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh38 Chromosome 13, 23837561: 23837561
25 C1QTNF9; C1QTNF9B; MIPEP; PCOTH; SACS; SGCG; SPATA13; TNFRSF19 GRCh37/hg19 13q12.12(chr13: 23519916-24941516)x1 copy number loss Pathogenic GRCh37 Chromosome 13, 23519916: 24941516
26 DTNA NM_001390.4(DTNA): c.177A> G (p.Ile59Met) single nucleotide variant Likely pathogenic rs1057518968 GRCh37 Chromosome 18, 32374029: 32374029
27 DTNA NM_001390.4(DTNA): c.177A> G (p.Ile59Met) single nucleotide variant Likely pathogenic rs1057518968 GRCh38 Chromosome 18, 34794065: 34794065
28 PKP2 NM_001005242.2(PKP2): c.2302G> A (p.Asp768Asn) single nucleotide variant Uncertain significance rs200947767 GRCh37 Chromosome 12, 32949098: 32949098
29 PKP2 NM_001005242.2(PKP2): c.2302G> A (p.Asp768Asn) single nucleotide variant Uncertain significance rs200947767 GRCh38 Chromosome 12, 32796164: 32796164
30 C1QTNF9; C1QTNF9B; MIPEP; PCOTH; SACS; SGCG; SPATA13; TNFRSF19 GRCh37/hg19 13q12.12(chr13: 23519916-24941516)x1 copy number loss Likely benign GRCh37 Chromosome 13, 23519916: 24941516
31 TAZ NM_000116.4(TAZ): c.680dup (p.Tyr227Terfs) duplication Uncertain significance GRCh37 Chromosome X, 153648584: 153648584
32 TAZ NM_000116.4(TAZ): c.680dup (p.Tyr227Terfs) duplication Uncertain significance GRCh38 Chromosome X, 154420245: 154420245
33 JUP NM_002230.3(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 GRCh38 Chromosome 17, 41758861: 41758861
34 JUP NM_002230.3(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 GRCh37 Chromosome 17, 39915113: 39915113
35 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237951371: 237951371
36 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 237788071: 237788071
37 ANKRD1 NM_014391.2(ANKRD1): c.806G> A (p.Arg269Gln) single nucleotide variant Uncertain significance rs367609929 GRCh37 Chromosome 10, 92675343: 92675343
38 ANKRD1 NM_014391.2(ANKRD1): c.806G> A (p.Arg269Gln) single nucleotide variant Uncertain significance rs367609929 GRCh38 Chromosome 10, 90915586: 90915586
39 TTN NM_001267550.2(TTN): c.47961delA (p.Gly15988Alafs) deletion Pathogenic GRCh37 Chromosome 2, 179481655: 179481655
40 TTN NM_001267550.2(TTN): c.47961delA (p.Gly15988Alafs) deletion Pathogenic GRCh38 Chromosome 2, 178616928: 178616928
41 TTN NM_001267550.2(TTN): c.20836+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 179590094: 179590094
42 TTN NM_001267550.2(TTN): c.20836+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 178725367: 178725367
43 NKX2-5 NM_004387.3(NKX2-5): c.711C> A (p.Tyr237Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 172659836: 172659836
44 NKX2-5 NM_004387.3(NKX2-5): c.711C> A (p.Tyr237Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 173232833: 173232833
Sources

Expression for Left Ventricular Noncompaction

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Search GEO for disease gene expression data for Left Ventricular Noncompaction.
Sources

Pathways for Left Ventricular Noncompaction

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Pathways related to Left Ventricular Noncompaction according to KEGG:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

Pathways related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.53 ACTN2 MYBPC3 NKX2-5 SCN5A TNNT2 TPM1
2
Cytoskeletal Signaling 4
12.22 ACTC1 LMNA TNNT2 TPM1
3
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.74 ACTC1 LMNA MYBPC3 MYH7 TNNT2 TPM1
4
Cardiac muscle contraction 37
11.51 ACTC1 MYH7 TNNT2 TPM1
5
Cardiac Progenitor Differentiation 1
11.18 ACTC1 NKX2-5 SCN5A TNNT2
6
Striated Muscle Contraction 1 66
10.96 ACTC1 ACTN2 MYBPC3 TNNT2 TPM1 TTN
7
Cardiomyocyte Differentiation through BMP Receptors 64
10.89 MYH7 MYH7B NKX2-5
8
HOP Signaling 64
10.18 ACTC1 NKX2-5
Sources

GO Terms for Left Ventricular Noncompaction

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Cellular components related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.61 ACTC1 ACTN2 TPM1
2 myofibril GO:0030016 9.58 MYH7 TNNT2 TPM1
3 muscle myosin complex GO:0005859 9.54 MYBPC3 MYH7 TTN
4 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
5 pseudopodium GO:0031143 9.46 ACTN2 LDB3
6 myosin filament GO:0032982 9.43 MYBPC3 MYH7 MYH7B
7 Z disc GO:0030018 9.43 ACTN2 LDB3 MYBPC3 MYH7 SCN5A TTN
8 cardiac myofibril GO:0097512 9.33 MYBPC3 MYH7B TNNT2
9 sarcomere GO:0030017 9.1 ACTC1 ACTN2 MYBPC3 MYH7 TNNT2 TPM1

Biological processes related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 MIB1 NKX2-5 PKP2 TAZ
2 muscle contraction GO:0006936 9.8 ACTN2 MYH7 TAZ TNNT2 TPM1 TTN
3 actin filament organization GO:0007015 9.77 MYBPC3 TPM1 TTN
4 sarcomere organization GO:0045214 9.7 ACTN2 LDB3 MYBPC3 NKX2-5 TNNT2 TPM1
5 striated muscle contraction GO:0006941 9.67 DTNA MYBPC3 MYH7 TTN
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 MYBPC3 MYH7 PKP2 TNNT2 TPM1
7 positive regulation of ATPase activity GO:0032781 9.63 MYBPC3 TNNT2 TPM1
8 skeletal muscle contraction GO:0003009 9.61 MYH7 TNNT2
9 cardiac muscle tissue morphogenesis GO:0055008 9.61 ACTC1 NKX2-5 TTN
10 cardiac muscle tissue development GO:0048738 9.6 NKX2-5 TAZ
11 regulation of muscle contraction GO:0006937 9.58 TNNT2 TPM1
12 cardiac myofibril assembly GO:0055003 9.58 ACTC1 TTN
13 positive regulation of sodium ion transport GO:0010765 9.58 NKX2-5 PKP2 SCN5A
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.57 PKP2 SCN5A
15 ventricular cardiac muscle cell action potential GO:0086005 9.56 PKP2 SCN5A
16 adult heart development GO:0007512 9.55 MYH7 NKX2-5
17 heart contraction GO:0060047 9.54 ACTC1 NKX2-5
18 ventricular cardiac muscle cell development GO:0055015 9.51 LMNA NKX2-5
19 muscle filament sliding GO:0030049 9.5 ACTC1 ACTN2 MYBPC3 MYH7 TNNT2 TPM1
20 striated muscle myosin thick filament assembly GO:0071688 9.49 MYBPC3 TTN
21 skeletal muscle thin filament assembly GO:0030240 9.48 ACTC1 TTN
22 cardiac muscle contraction GO:0060048 9.28 ACTC1 MYBPC3 MYH7 NKX2-5 SCN5A TAZ

Molecular functions related to Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.63 ACTN2 MYBPC3 MYH7 MYH7B TNNT2 TPM1
2 ion channel binding GO:0044325 9.61 ACTN2 PKP2 SCN5A
3 cytoskeletal protein binding GO:0008092 9.54 ACTN2 LDB3 TPM1
4 myosin binding GO:0017022 9.46 ACTC1 MYBPC3
5 muscle alpha-actinin binding GO:0051371 9.43 LDB3 MYBPC3 TTN
6 titin binding GO:0031432 9.4 ACTN2 MYBPC3
7 structural molecule activity conferring elasticity GO:0097493 9.32 MYBPC3 TTN
8 structural constituent of muscle GO:0008307 9.26 ACTN2 MYBPC3 TPM1 TTN
9 actin filament binding GO:0051015 9.1 ACTN2 MYBPC3 MYH7 MYH7B TPM1 TTN
Sources

Sources for Left Ventricular Noncompaction

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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