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LVHT
MCID: LFT003
MIFTS: 55

Left Ventricular Noncompaction (LVHT)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
Sources

Aliases & Classifications for Left Ventricular Noncompaction

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MalaCards integrated aliases for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 12 54 26 60 38 30 6 15 74
Left Ventricular Hypertrabeculation 12 54 26 60
Noncompaction Cardiomyopathy 26 6 74
Spongy Myocardium 54 26 60
Left Ventricular Myocardial Noncompaction Cardiomyopathy 26 74
Isolated Noncompaction of the Ventricular Myocardium 26 17
Lvnc 54 60
Non-Compaction of the Left Ventricular Myocardium 26
Left Ventricular Non-Compaction 26
Ventricular Noncompaction, Left 41
Non-Compaction Cardiomyopathy 17
Hypertrabeculation Syndrome 26
Honeycomb Myocardium 26
Fetal Myocardium 26
Lvht 26

Characteristics:

Orphanet epidemiological data:

60
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 Blood diseases
See all MalaCards categories (disease lists)
ICD10: 35


External Ids:

Disease Ontology 12 DOID:0060480
KEGG 38 H01216
ICD10 via Orphanet 35 I42.8
UMLS via Orphanet 75 C1960469
Orphanet 60 ORPHA54260
Sources

Summaries for Left Ventricular Noncompaction

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Genetics Home Reference : 26 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 left ventricular noncompaction 1 and left ventricular noncompaction 2. An important gene associated with Left Ventricular Noncompaction is MYBPC3 (Myosin Binding Protein C, Cardiac), and among its related pathways/superpathways are Cardiac muscle contraction and Aldosterone synthesis and secretion. 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 : 54 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 : 77 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 188)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1 34.9 LDB3 DTNA
2 left ventricular noncompaction 2 34.4 TTN LVNC2
3 barth syndrome 33.3 TAZ LDB3 DTNA
4 cardiomyopathy, dilated, 1e 33.0 TTN TPM1 NKX2-5 MYH7 LMNA
5 hypertrophic cardiomyopathy 31.1 TTN TPM1 TNNT2 RYR2 MYH7 MYBPC3
6 atrial standstill 1 31.0 TTN TNNT2 TAZ PKP2 MYH7 MYBPC3
7 peripartum cardiomyopathy 31.0 TTN MYH7
8 cardiac arrest 30.9 TNNT2 RYR2 MYH7 MYBPC3
9 long qt syndrome 30.8 RYR2 PKP2 MYBPC3 HCN4
10 ebstein anomaly 30.6 TPM1 NKX2-5 MYH7
11 sick sinus syndrome 30.6 TTN LMNA HCN4
12 cardiac conduction defect 30.6 RYR2 MYH7 MYBPC3 LMNA
13 ventricular fibrillation, paroxysmal familial, 1 30.4 TNNT2 RYR2 NKX2-5
14 atrioventricular block 30.3 NKX2-5 LMNA HCN4
15 dilated cardiomyopathy 29.9 TTN TPM1 TNNT2 TAZ RYR2 PLEKHM2
16 heart disease 29.8 TTN TNNT2 TAZ RYR2 PKP2 NKX2-5
17 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.6
18 left ventricular noncompaction 7 12.6
19 left ventricular noncompaction 8 12.6
20 left ventricular noncompaction 10 12.6
21 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.5
22 cardiomyopathy, dilated, 1d 11.8
23 cardiomyopathy, dilated, 1r 11.7
24 mental retardation, x-linked, syndromic 34 11.7
25 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 11.4
26 combined oxidative phosphorylation deficiency 31 11.3
27 3-methylglutaconic aciduria, type v 11.2
28 rere-related disorders 10.6
29 myopathy, spheroid body 10.5 TTN MYH7 LDB3
30 myopathy, myofibrillar, 4 10.5 LDB3 DTNA
31 muscle disorders 10.5
32 arrhythmogenic right ventricular dysplasia, familial, 1 10.5 TTN RYR2
33 central core myopathy 10.5 RYR2 MYH7
34 second-degree atrioventricular block 10.4 LMNA HCN4
35 myopathy, myofibrillar, 3 10.4 TTN LDB3
36 campomelic dysplasia 10.4 TTN MYBPC3 LMNA
37 myofibrillar myopathy 10.4 TTN LMNA LDB3
38 myopathy 10.4
39 cardiomyopathy, familial hypertrophic, 1 10.4 TTN TPM1 TNNT2 MYH7 MYBPC3 ACTC1
40 restrictive cardiomyopathy 10.4 TTN TPM1 TNNT2 MYH7 MYBPC3 ACTC1
41 cardiomyopathy, familial hypertrophic, 4 10.4 TTN MYBPC3
42 congestive heart failure 10.4
43 long qt syndrome 1 10.4 RYR2 PKP2 HCN4
44 arrhythmogenic right ventricular dysplasia, familial, 9 10.4 RYR2 PKP2
45 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TTN RYR2 PKP2 LMNA LDB3
46 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TTN RYR2 PKP2 LMNA LDB3
47 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 TTN RYR2 PKP2 LMNA LDB3
48 arrhythmogenic right ventricular dysplasia, familial, 8 10.3 RYR2 PKP2
49 heterotaxy 10.3
50 familial isolated dilated cardiomyopathy 10.3 TTN TPM1 TNNT2 TAZ PRDM16 MYH7

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 ACTC1 DTNA HCN4 LDB3 LMNA MIB1
2 growth/size/body region MP:0005378 10.06 ACTC1 DTNA LDB3 LMNA MIB1 NKX2-5
3 homeostasis/metabolism MP:0005376 10.03 ACTC1 LDB3 LMNA MIB1 MYBPC3 NKX2-5
4 mortality/aging MP:0010768 9.97 ACTC1 DTNA HCN4 LDB3 LMNA MIB1
5 muscle MP:0005369 9.73 ACTC1 DTNA HCN4 LDB3 LMNA MYBPC3
6 normal MP:0002873 9.28 ACTC1 HCN4 LMNA MIB1 NKX2-5 PRDM16
Sources

Drugs & Therapeutics for Left Ventricular Noncompaction

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prognosis of Isolated Left Ventricular Non-compaction in Adults Unknown status NCT02885363 Not Applicable
2 Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy Completed NCT01481298
3 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014
4 Training-induced Increased Left Ventricular Trabeculation Completed NCT02568072
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 30
Sources

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

42
Heart, Kidney, Testes, Skeletal Muscle
Sources

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 591)
# Title Authors Year
1
Cardiac sarcoidosis mimicking left ventricular noncompaction: An approach to acquired apical hypertrabeculation. ( 30834555 )
2019
2
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarkers, and speckle imaging. ( 30487060 )
2019
3
Left ventricular noncompaction, morphological, and clinical features for an integrated diagnosis. ( 30612215 )
2019
4
Catheter ablation of a right posterior accessory pathway in a patient with left ventricular noncompaction: A case report. ( 30702587 )
2019
5
Titin-truncating Variants Are Associated with Heart Failure Events in Patients with Left Ventricular Noncompaction Cardiomyopathy. ( 30851055 )
2019
6
Meta-Analysis of the Prognostic Role of Late Gadolinium Enhancement and Global Systolic Impairment in Left Ventricular Noncompaction. ( 30878415 )
2019
7
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report. ( 30899493 )
2019
8
Understanding left ventricular hypertrabeculation/noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities. ( 30570401 )
2019
9
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
10
Improvement of the Diagnosis of Left Ventricular Noncompaction Cardiomyopathy After Analyzing Both Advantages and Disadvantages of Echocardiography and CMRI. ( 29859913 )
2018
11
Left Ventricular Noncompaction: From Physiologic Remodeling to NoncompactionA Cardiomyopathy. ( 29447732 )
2018
12
Echocardiographic and clinical markers of left ventricular ejection fraction and moderate or greater systolic dysfunction in left ventricular noncompaction cardiomyopathy. ( 29577407 )
2018
13
Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction. ( 29568952 )
2018
14
Predictors of poor outcome in patients with left ventricular noncompaction: Review of the literature. ( 29558024 )
2018
15
Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease. ( 29755943 )
2018
16
Cardiomyopathy Phenotypes and Pregnancy Outcomes with Left Ventricular Noncompaction Cardiomyopathy. ( 29794382 )
2018
17
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarker, and speckle imaging. ( 29960849 )
2018
18
Anticoagulation Therapy in Specific Cardiomyopathies: Isolated Left Ventricular Noncompaction and Peripartum Cardiomyopathy. ( 29911432 )
2018
19
Usefulness of a left ventricular assist device in patients with left ventricular noncompaction. ( 29686556 )
2018
20
Whole-Exome Sequencing Reveals <i>GATA4</i> and <i>PTEN</i> Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction. ( 29874181 )
2018
21
Potential Common Pathogenic Pathways for the Left Ventricular Noncompaction Cardiomyopathy (LVNC). ( 29766225 )
2018
22
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
23
A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. ( 29629024 )
2018
24
The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery. ( 29203216 )
2018
25
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. ( 30527948 )
2018
26
Value of Cardiac Magnetic Resonance Fractal Analysis Combined With Myocardial Strain in Discriminating Isolated Left Ventricular Noncompaction and Dilated Cardiomyopathy. ( 30565346 )
2018
27
An Adolescent with Left Ventricular Noncompaction and Ebstein Anomaly Presenting with Advanced Heart Failure: Discharge from Hospital with a Biventricular Assist Device. ( 30217690 )
2018
28
Long-Term Outcomes of Childhood Left Ventricular Noncompaction Cardiomyopathy. ( 29514799 )
2018
29
Clinical and Echocardiography Features of Diagnosed in Adulthood Isolated Left Ventricular Noncompaction: A Case Series Study. ( 30065511 )
2018
30
A rare case of Ebstein's anomaly with left ventricular noncompaction. ( 30080103 )
2018
31
Left ventricular noncompaction in patients with coronary artery disease: Preliminary analysis of echocardiographic findings. ( 30105764 )
2018
32
Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum. ( 30109595 )
2018
33
Clinical and Genetic Complexities of Left Ventricular Noncompaction: Preventing Overdiagnosis in a Disease We Do Not Understand. ( 30140926 )
2018
34
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction. ( 30188508 )
2018
35
The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction. ( 30279906 )
2018
36
Advanced Biventricular Heart Failure due to Left Ventricular Noncompaction Cardiomyopathy Leading to the Formation of a Gastric Bezoar: The Implications of Heart Failure on the Gastrointestinal Tract. ( 30364138 )
2018
37
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy. ( 30371277 )
2018
38
Are We Getting Closer to Risk Stratification in Left Ventricular Noncompaction Cardiomyopathy? ( 30371282 )
2018
39
Left Ventricular Noncompaction in a Patient with Systemic Lupus Erythematosus. ( 30379642 )
2018
40
Case presentation commentary on "Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum." ( 30397865 )
2018
41
Left ventricular noncompaction with intractable heart failure responsive to empagliflozin. ( 30595770 )
2018
42
Prevalence of left ventricular hypertrabeculation/noncompaction among children with sickle cell disease. ( 29468808 )
2018
43
Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders. ( 29626229 )
2018
44
Prognosis in Sporadic Left Ventricular Hypertrabeculation With Normal Function. ( 29903361 )
2018
45
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
46
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. ( 28079110 )
2017
47
Left ventricular noncompaction or hypertrophic cardiomyopathy? Both! ( 28803523 )
2017
48
Left Ventricular Noncompaction Cardiomyopathy Presenting with Heart Failure in a 35-Year-Old Man. ( 28878579 )
2017
49
Left Ventricular Noncompaction in Older Patients. ( 28864371 )
2017
50
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
Sources

Variations for Left Ventricular Noncompaction

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ClinVar genetic disease variations for Left Ventricular Noncompaction:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh37 Chromosome 1, 237949299: 237949299
2 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh38 Chromosome 1, 237785999: 237785999
3 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh38 Chromosome 10, 119672400: 119672400
4 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh37 Chromosome 10, 121431912: 121431912
5 TPM1 NM_001018005.1(TPM1): c.797A> G (p.Lys266Arg) single nucleotide variant Uncertain significance rs371934474 GRCh38 Chromosome 15, 63064088: 63064088
6 TPM1 NM_001018005.1(TPM1): c.797A> G (p.Lys266Arg) single nucleotide variant Uncertain significance rs371934474 GRCh37 Chromosome 15, 63356287: 63356287
7 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh38 Chromosome 17, 41755877: 41755877
8 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh37 Chromosome 17, 39912129: 39912129
9 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh38 Chromosome 14, 75980601: 75980601
10 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh37 Chromosome 14, 76446944: 76446944
11 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh37 Chromosome 13, 24380192: 24380192
12 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh38 Chromosome 13, 23806053: 23806053
13 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh37 Chromosome 13, 24460623: 24460623
14 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh38 Chromosome 13, 23886484: 23886484
15 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh37 Chromosome 13, 24443458: 24443458
16 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh38 Chromosome 13, 23869319: 23869319
17 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh37 Chromosome 13, 24380133: 24380133
18 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh38 Chromosome 13, 23805994: 23805994
19 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh37 Chromosome 13, 24436467: 24436467
20 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh38 Chromosome 13, 23862328: 23862328
21 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh37 Chromosome 13, 24411700: 24411700
22 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh38 Chromosome 13, 23837561: 23837561
23 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
24 MYH6 NM_002471.3(MYH6): c.3383G> A (p.Arg1128His) single nucleotide variant Uncertain significance rs376002621 GRCh37 Chromosome 14, 23859615: 23859615
25 MYH6 NM_002471.3(MYH6): c.3383G> A (p.Arg1128His) single nucleotide variant Uncertain significance rs376002621 GRCh38 Chromosome 14, 23390406: 23390406
26 LMNA NM_170707.3(LMNA): c.1567G> A (p.Gly523Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201583907 GRCh37 Chromosome 1, 156106982: 156106982
27 LMNA NM_170707.3(LMNA): c.1567G> A (p.Gly523Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201583907 GRCh38 Chromosome 1, 156137191: 156137191
28 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh38 Chromosome 15, 73323445: 73323445
29 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh37 Chromosome 15, 73615786: 73615786
30 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic rs587782958 GRCh38 Chromosome 11, 47333552: 47333552
31 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic rs587782958 GRCh37 Chromosome 11, 47355103: 47355103
32 DTNA NM_001390.4(DTNA): c.177A> G (p.Ile59Met) single nucleotide variant Likely pathogenic rs1057518968 GRCh37 Chromosome 18, 32374029: 32374029
33 DTNA NM_001390.4(DTNA): c.177A> G (p.Ile59Met) single nucleotide variant Likely pathogenic rs1057518968 GRCh38 Chromosome 18, 34794065: 34794065
34 PKP2 NM_001005242.2(PKP2): c.2302G> A (p.Asp768Asn) single nucleotide variant Uncertain significance rs200947767 GRCh37 Chromosome 12, 32949098: 32949098
35 PKP2 NM_001005242.2(PKP2): c.2302G> A (p.Asp768Asn) single nucleotide variant Uncertain significance rs200947767 GRCh38 Chromosome 12, 32796164: 32796164
36 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
37 TAZ NM_000116.4(TAZ): c.680dup (p.Tyr227Terfs) duplication Uncertain significance rs1557194203 GRCh37 Chromosome X, 153648584: 153648584
38 TAZ NM_000116.4(TAZ): c.680dup (p.Tyr227Terfs) duplication Uncertain significance rs1557194203 GRCh38 Chromosome X, 154420245: 154420245
39 MYH6 NM_002471.3(MYH6): c.3413G> A (p.Arg1138His) single nucleotide variant Uncertain significance rs745801044 GRCh37 Chromosome 14, 23859585: 23859585
40 MYH6 NM_002471.3(MYH6): c.3413G> A (p.Arg1138His) single nucleotide variant Uncertain significance rs745801044 GRCh38 Chromosome 14, 23390376: 23390376
41 MYH7 NM_000257.3(MYH7): c.732+2T> G single nucleotide variant Uncertain significance rs1555338658 GRCh37 Chromosome 14, 23900792: 23900792
42 MYH7 NM_000257.3(MYH7): c.732+2T> G single nucleotide variant Uncertain significance rs1555338658 GRCh38 Chromosome 14, 23431583: 23431583
43 JUP NM_002230.3(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 GRCh38 Chromosome 17, 41758861: 41758861
44 JUP NM_002230.3(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 GRCh37 Chromosome 17, 39915113: 39915113
45 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance rs1553325274 GRCh37 Chromosome 1, 237951371: 237951371
46 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance rs1553325274 GRCh38 Chromosome 1, 237788071: 237788071
47 ANKRD1 NM_014391.2(ANKRD1): c.806G> A (p.Arg269Gln) single nucleotide variant Uncertain significance rs367609929 GRCh37 Chromosome 10, 92675343: 92675343
48 ANKRD1 NM_014391.2(ANKRD1): c.806G> A (p.Arg269Gln) single nucleotide variant Uncertain significance rs367609929 GRCh38 Chromosome 10, 90915586: 90915586
49 TTN NM_001267550.2(TTN): c.47961delA (p.Gly15988Alafs) deletion Pathogenic rs1553707780 GRCh37 Chromosome 2, 179481655: 179481655
50 TTN NM_001267550.2(TTN): c.47961delA (p.Gly15988Alafs) deletion Pathogenic rs1553707780 GRCh38 Chromosome 2, 178616928: 178616928
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:

38
# 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
Aldosterone synthesis and secretion 38
Show member pathways
 12.72 ACTC1 MYH7 RYR2 TNNT2 TPM1
2
Cardiac conduction 67
Show member pathways
 12.53 MYBPC3 NKX2-5 RYR2 TNNT2 TPM1 TTN
3
Cytoskeletal Signaling 4
12.27 ACTC1 LMNA TNNT2 TPM1
4
Dilated cardiomyopathy (DCM) 38
Show member pathways
 11.47 ACTC1 LMNA MYBPC3 MYH7 RYR2 TNNT2
5
Cardiac muscle contraction 38
11.45 ACTC1 MYH7 RYR2 TNNT2 TPM1
6
Antiarrhythmic Pathway, Pharmacodynamics 62
11.36 HCN4 LMNA RYR2
7
Cardiac Progenitor Differentiation 1
11.27 ACTC1 NKX2-5 TNNT2
8
Striated Muscle Contraction 1 67
11.21 ACTC1 MYBPC3 TNNT2 TPM1 TTN
9
Cardiomyocyte Differentiation through BMP Receptors 65
10.78 MYH7 MYH7B NKX2-5
10
HOP Signaling 65
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 Z disc GO:0030018 9.55 LDB3 MYBPC3 MYH7 RYR2 TTN
2 myofibril GO:0030016 9.54 MYH7 TNNT2 TPM1
3 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
4 myosin filament GO:0032982 9.43 MYBPC3 MYH7 MYH7B
5 I band GO:0031674 9.4 ACTC1 TTN
6 sarcomere GO:0030017 9.17 ACTC1 MYBPC3 MYH7 RYR2 TNNT2 TPM1
7 cardiac myofibril GO:0097512 9.13 MYBPC3 MYH7B TNNT2

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.84 MIB1 NKX2-5 PKP2 TAZ
2 muscle contraction GO:0006936 9.8 HCN4 MYBPC3 MYH7 TAZ TNNT2 TPM1
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.72 MYBPC3 MYH7 PKP2 TNNT2 TPM1
4 positive regulation of ATPase activity GO:0032781 9.69 MYBPC3 TNNT2 TPM1
5 regulation of heart rate GO:0002027 9.67 HCN4 MYH7 RYR2
6 cardiac muscle tissue morphogenesis GO:0055008 9.67 ACTC1 MYBPC3 NKX2-5 TTN
7 regulation of cardiac muscle contraction GO:0055117 9.65 HCN4 NKX2-5 RYR2
8 skeletal muscle contraction GO:0003009 9.63 MYH7 TNNT2
9 cardiac myofibril assembly GO:0055003 9.63 ACTC1 MYBPC3 TTN
10 sarcomere organization GO:0045214 9.63 LDB3 MYBPC3 NKX2-5 TNNT2 TPM1 TTN
11 regulation of muscle contraction GO:0006937 9.62 TNNT2 TPM1
12 cardiac muscle tissue development GO:0048738 9.62 NKX2-5 TAZ
13 ventricular cardiac muscle cell action potential GO:0086005 9.61 PKP2 RYR2
14 cardiac muscle fiber development GO:0048739 9.61 MYBPC3 TTN
15 striated muscle contraction GO:0006941 9.61 DTNA MYH7 TTN
16 positive regulation of sodium ion transport GO:0010765 9.6 NKX2-5 PKP2
17 adult heart development GO:0007512 9.59 MYH7 NKX2-5
18 heart contraction GO:0060047 9.58 ACTC1 NKX2-5
19 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 PKP2 RYR2
20 skeletal muscle thin filament assembly GO:0030240 9.58 ACTC1 MYBPC3 TTN
21 cardiac muscle hypertrophy GO:0003300 9.57 RYR2 TTN
22 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.56 PKP2 RYR2
23 skeletal muscle myosin thick filament assembly GO:0030241 9.55 MYBPC3 TTN
24 ventricular cardiac muscle cell development GO:0055015 9.52 LMNA NKX2-5
25 muscle filament sliding GO:0030049 9.43 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
26 cardiac muscle contraction GO:0060048 9.28 ACTC1 MYBPC3 MYH7 NKX2-5 RYR2 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 9.55 MYBPC3 MYH7 MYH7B TNNT2 TPM1
2 structural constituent of muscle GO:0008307 9.43 MYBPC3 TPM1 TTN
3 actin filament binding GO:0051015 9.35 MYBPC3 MYH7 MYH7B TPM1 TTN
4 myosin binding GO:0017022 9.32 ACTC1 MYBPC3
5 muscle alpha-actinin binding GO:0051371 8.8 LDB3 MYBPC3 TTN
Sources

Sources for Left Ventricular Noncompaction

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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