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LVHT
MCID: LFT003
MIFTS: 53

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 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 Genetic diseases Fetal diseases
Anatomical: Cardiovascular diseases Blood 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

About this section
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 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 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 169)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1 34.7 DTNA LDB3
2 left ventricular noncompaction 2 34.2 LVNC2 TTN
3 barth syndrome 33.0 DTNA LDB3 TAZ
4 cardiomyopathy, dilated, 1e 32.9 LMNA MYH7 NKX2-5 SCN5A TPM1 TTN
5 hypertrophic cardiomyopathy 30.9 ACTC1 LDB3 LMNA MYBPC3 MYH7 RYR2
6 peripartum cardiomyopathy 30.8 MYH7 TTN
7 long qt syndrome 30.6 MYBPC3 PKP2 RYR2 SCN5A
8 cardiac arrest 30.6 MYBPC3 MYH7 RYR2 SCN5A TNNT2
9 ebstein anomaly 30.5 MYH7 NKX2-5 TPM1
10 catecholaminergic polymorphic ventricular tachycardia 30.4 MYBPC3 RYR2 SCN5A
11 sick sinus syndrome 30.4 LMNA SCN5A TTN
12 atrial standstill 1 30.3 LMNA MIPEP MYBPC3 MYH7 PKP2 SCN5A
13 cardiac conduction defect 30.3 LMNA MYBPC3 MYH7 RYR2 SCN5A
14 ventricular fibrillation, paroxysmal familial, 1 30.3 NKX2-5 RYR2 SCN5A TNNT2
15 atrioventricular block 30.3 LMNA NKX2-5 SCN5A
16 left bundle branch hemiblock 30.0 PKP2 SCN5A
17 dilated cardiomyopathy 30.0 ACTC1 DTNA LDB3 LMNA MYBPC3 MYH7
18 heart disease 29.9 ACTC1 LMNA MYBPC3 MYH7 NKX2-5 PKP2
19 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.6
20 left ventricular noncompaction 7 12.5
21 left ventricular noncompaction 8 12.5
22 left ventricular noncompaction 10 12.5
23 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.4
24 cardiomyopathy, dilated, 1d 11.7
25 cardiomyopathy, dilated, 1r 11.7
26 mental retardation, x-linked, syndromic 34 11.7
27 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 11.4
28 combined oxidative phosphorylation deficiency 31 11.3
29 3-methylglutaconic aciduria, type v 11.2
30 myopathy 10.4
31 myopathy, myofibrillar, 4 10.3 DTNA LDB3
32 myopathy, spheroid body 10.3 LDB3 MYH7 TTN
33 aortic valve disease 1 10.3
34 first-degree atrioventricular block 10.3 MYH7 SCN5A
35 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 MYH7 RYR2 SCN5A
36 cardiomyopathy, familial hypertrophic, 4 10.3 MYBPC3 TTN
37 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 RYR2 TTN
38 myopathy, myofibrillar, 3 10.3 LDB3 TTN
39 campomelic dysplasia 10.3 LMNA MYBPC3 TTN
40 central core myopathy 10.3 MYH7 RYR2
41 heterotaxy 10.3
42 myofibrillar myopathy 10.3 LDB3 LMNA TTN
43 endocardial fibroelastosis 10.3 MYH7 TAZ
44 arrhythmogenic right ventricular dysplasia, familial, 9 10.3 PKP2 RYR2
45 cardiomyopathy, familial hypertrophic, 1 10.3 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
46 restrictive cardiomyopathy 10.3 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
47 long qt syndrome 1 10.3 PKP2 RYR2 SCN5A
48 arrhythmogenic right ventricular dysplasia, familial, 8 10.2 PKP2 RYR2
49 myotonic dystrophy 1 10.2
50 myotonic dystrophy 10.2

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 10.24 ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
2 growth/size/body region MP:0005378 10.1 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 LDB3 LMNA MIB1 NKX2-5
5 muscle MP:0005369 9.73 ACTC1 DTNA LDB3 LMNA MYBPC3 MYH7
6 normal MP:0002873 9.28 ACTC1 LMNA MIB1 NKX2-5 PRDM16 RYR2
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 29
Sources

Anatomical Context for Left Ventricular Noncompaction

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MalaCards organs/tissues related to Left Ventricular Noncompaction:

41
Heart, Kidney, Testes, Skin, Skeletal Muscle
Sources

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 581)
# Title Authors Year
1
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarkers, and speckle imaging. ( 30487060 )
2019
2
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
3
Improvement of the Diagnosis of Left Ventricular Noncompaction Cardiomyopathy After Analyzing Both Advantages and Disadvantages of Echocardiography and CMRI. ( 29859913 )
2018
4
Left Ventricular Noncompaction: From Physiologic Remodeling to NoncompactionA Cardiomyopathy. ( 29447732 )
2018
5
Echocardiographic and clinical markers of left ventricular ejection fraction and moderate or greater systolic dysfunction in left ventricular noncompaction cardiomyopathy. ( 29577407 )
2018
6
Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction. ( 29568952 )
2018
7
Predictors of poor outcome in patients with left ventricular noncompaction: Review of the literature. ( 29558024 )
2018
8
Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease. ( 29755943 )
2018
9
Cardiomyopathy Phenotypes and Pregnancy Outcomes with Left Ventricular Noncompaction Cardiomyopathy. ( 29794382 )
2018
10
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarker, and speckle imaging. ( 29960849 )
2018
11
Anticoagulation Therapy in Specific Cardiomyopathies: Isolated Left Ventricular Noncompaction and Peripartum Cardiomyopathy. ( 29911432 )
2018
12
Usefulness of a left ventricular assist device in patients with left ventricular noncompaction. ( 29686556 )
2018
13
Whole-Exome Sequencing Reveals <i>GATA4</i> and <i>PTEN</i> Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction. ( 29874181 )
2018
14
Potential Common Pathogenic Pathways for the Left Ventricular Noncompaction Cardiomyopathy (LVNC). ( 29766225 )
2018
15
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
16
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. ( 30527948 )
2018
17
An Adolescent with Left Ventricular Noncompaction and Ebstein Anomaly Presenting with Advanced Heart Failure: Discharge from Hospital with a Biventricular Assist Device. ( 30217690 )
2018
18
Are We Getting Closer to Risk Stratification in Left Ventricular Noncompaction Cardiomyopathy? ( 30371282 )
2018
19
Left Ventricular Noncompaction in a Patient with Systemic Lupus Erythematosus. ( 30379642 )
2018
20
Case presentation commentary on "Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum." ( 30397865 )
2018
21
The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery. ( 29203216 )
2018
22
A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. ( 29629024 )
2018
23
Clinical and Echocardiography Features of Diagnosed in Adulthood Isolated Left Ventricular Noncompaction: A Case Series Study. ( 30065511 )
2018
24
A rare case of Ebstein's anomaly with left ventricular noncompaction. ( 30080103 )
2018
25
Left ventricular noncompaction in patients with coronary artery disease: Preliminary analysis of echocardiographic findings. ( 30105764 )
2018
26
Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum. ( 30109595 )
2018
27
Clinical and Genetic Complexities of Left Ventricular Noncompaction: Preventing Overdiagnosis in a Disease We Do Not Understand. ( 30140926 )
2018
28
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction. ( 30188508 )
2018
29
The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction. ( 30279906 )
2018
30
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
31
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy. ( 30371277 )
2018
32
Prevalence of left ventricular hypertrabeculation/noncompaction among children with sickle cell disease. ( 29468808 )
2018
33
Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders. ( 29626229 )
2018
34
Prognosis in Sporadic Left Ventricular Hypertrabeculation With Normal Function. ( 29903361 )
2018
35
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
36
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. ( 28079110 )
2017
37
Left ventricular noncompaction or hypertrophic cardiomyopathy? Both! ( 28803523 )
2017
38
Left Ventricular Noncompaction Cardiomyopathy Presenting with Heart Failure in a 35-Year-Old Man. ( 28878579 )
2017
39
Left Ventricular Noncompaction in Older Patients. ( 28864371 )
2017
40
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ( 28249770 )
2017
41
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. ( 28798025 )
2017
42
Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. ( 28912186 )
2017
43
Ventricular arrhythmias associated with left ventricular noncompaction: Electrophysiologic characteristics, mapping, and ablation. ( 27890738 )
2017
44
Acute Kidney Infarction Due to Left Ventricular Thrombus Embolization In Patient with Isolated Left Ventricular Noncompaction: A Case Report. ( 29272223 )
2017
45
Key Questions Relating to Left Ventricular Noncompaction Cardiomyopathy: Is the Emperor Still Wearing Any Clothes? ( 28395867 )
2017
46
Bradycardia, Syncope, and Left Ventricular Noncompaction Cardiomyopathy. ( 28645472 )
2017
47
Left ventricular noncompaction cardiomyopathy with severe coronary artery disease in a young patient with familial hypercholesterolemia. ( 28817544 )
2017
48
Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy. ( 29176328 )
2017
49
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. ( 28104484 )
2017
50
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. ( 28798026 )
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 MYH6 NM_002471.3(MYH6): c.3383G> A (p.Arg1128His) single nucleotide variant Uncertain significance rs376002621 GRCh37 Chromosome 14, 23859615: 23859615
2 MYH6 NM_002471.3(MYH6): c.3383G> A (p.Arg1128His) single nucleotide variant Uncertain significance rs376002621 GRCh38 Chromosome 14, 23390406: 23390406
3 LMNA NM_170707.3(LMNA): c.1567G> A (p.Gly523Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201583907 GRCh37 Chromosome 1, 156106982: 156106982
4 LMNA NM_170707.3(LMNA): c.1567G> A (p.Gly523Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201583907 GRCh38 Chromosome 1, 156137191: 156137191
5 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh38 Chromosome 15, 73323445: 73323445
6 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh37 Chromosome 15, 73615786: 73615786
7 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic rs587782958 GRCh38 Chromosome 11, 47333552: 47333552
8 MYBPC3 NM_000256.3(MYBPC3): c.3190+5G> A single nucleotide variant Pathogenic rs587782958 GRCh37 Chromosome 11, 47355103: 47355103
9 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh37 Chromosome 1, 237949299: 237949299
10 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh38 Chromosome 1, 237785999: 237785999
11 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh38 Chromosome 10, 119672400: 119672400
12 BAG3 NM_004281.3(BAG3): c.653G> A (p.Arg218Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201638005 GRCh37 Chromosome 10, 121431912: 121431912
13 TPM1 NM_001018005.1(TPM1): c.797A> G (p.Lys266Arg) single nucleotide variant Uncertain significance rs371934474 GRCh38 Chromosome 15, 63064088: 63064088
14 TPM1 NM_001018005.1(TPM1): c.797A> G (p.Lys266Arg) single nucleotide variant Uncertain significance rs371934474 GRCh37 Chromosome 15, 63356287: 63356287
15 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh38 Chromosome 17, 41755877: 41755877
16 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh37 Chromosome 17, 39912129: 39912129
17 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh38 Chromosome 14, 75980601: 75980601
18 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh37 Chromosome 14, 76446944: 76446944
19 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh37 Chromosome 13, 24380192: 24380192
20 MIPEP NM_005932.3(MIPEP): c.1745T> G (p.Leu582Arg) single nucleotide variant Uncertain significance rs1057518739 GRCh38 Chromosome 13, 23806053: 23806053
21 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh37 Chromosome 13, 24460623: 24460623
22 MIPEP NM_005932.3(MIPEP): c.212T> A (p.Leu71Gln) single nucleotide variant Uncertain significance rs1057518740 GRCh38 Chromosome 13, 23886484: 23886484
23 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh37 Chromosome 13, 24443458: 24443458
24 MIPEP NM_005932.3(MIPEP): c.916C> T (p.Leu306Phe) single nucleotide variant Uncertain significance rs143912947 GRCh38 Chromosome 13, 23869319: 23869319
25 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh37 Chromosome 13, 24380133: 24380133
26 MIPEP NM_005932.3(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 GRCh38 Chromosome 13, 23805994: 23805994
27 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh37 Chromosome 13, 24436467: 24436467
28 MIPEP NM_005932.3(MIPEP): c.1027A> G (p.Lys343Glu) single nucleotide variant Uncertain significance rs1057518741 GRCh38 Chromosome 13, 23862328: 23862328
29 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh37 Chromosome 13, 24411700: 24411700
30 MIPEP NM_005932.3(MIPEP): c.1534C> G (p.His512Asp) single nucleotide variant Uncertain significance rs779598020 GRCh38 Chromosome 13, 23837561: 23837561
31 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
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 GRCh37 Chromosome X, 153648584: 153648584
38 TAZ NM_000116.4(TAZ): c.680dup (p.Tyr227Terfs) duplication Uncertain significance 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 GRCh37 Chromosome 14, 23900792: 23900792
42 MYH7 NM_000257.3(MYH7): c.732+2T> G single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 23431583: 23431583
43 JUP NM_002230.3(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 GRCh37 Chromosome 17, 39915113: 39915113
44 JUP NM_002230.3(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 GRCh38 Chromosome 17, 41758861: 41758861
45 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237951371: 237951371
46 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance 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 GRCh37 Chromosome 2, 179481655: 179481655
50 TTN NM_001267550.2(TTN): c.47961delA (p.Gly15988Alafs) deletion Pathogenic 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:

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
 12.59 MYBPC3 NKX2-5 RYR2 SCN5A TNNT2 TPM1
2
Aldosterone synthesis and secretion 37
Show member pathways
 12.56 ACTC1 MYH7 RYR2 SCN5A TNNT2 TPM1
3
Cytoskeletal Signaling 4
12.27 ACTC1 LMNA TNNT2 TPM1
4
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.46 ACTC1 LMNA MYBPC3 MYH7 RYR2 TNNT2
5
Cardiac muscle contraction 37
11.45 ACTC1 MYH7 RYR2 TNNT2 TPM1
6
Antiarrhythmic Pathway, Pharmacodynamics 61
11.38 LMNA RYR2 SCN5A
7
Cardiac Progenitor Differentiation 1
11.28 ACTC1 NKX2-5 SCN5A TNNT2
8
Striated Muscle Contraction 1 66
11.21 ACTC1 MYBPC3 TNNT2 TPM1 TTN
9
Cardiomyocyte Differentiation through BMP Receptors 64
10.89 MYH7 MYH7B NKX2-5
10
HOP Signaling 64
10.21 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 sarcolemma GO:0042383 9.58 DTNA RYR2 SCN5A
2 myofibril GO:0030016 9.54 MYH7 TNNT2 TPM1
3 striated muscle thin filament GO:0005865 9.5 MYBPC3 TNNT2 TTN
4 I band GO:0031674 9.43 ACTC1 TTN
5 myosin filament GO:0032982 9.43 MYBPC3 MYH7 MYH7B
6 Z disc GO:0030018 9.43 LDB3 MYBPC3 MYH7 RYR2 SCN5A TTN
7 cardiac myofibril GO:0097512 9.33 MYBPC3 MYH7B TNNT2
8 sarcomere GO:0030017 9.17 ACTC1 MYBPC3 MYH7 RYR2 TNNT2 TPM1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.85 MIB1 NKX2-5 PKP2 TAZ
2 muscle contraction GO:0006936 9.8 MYBPC3 MYH7 TAZ TNNT2 TPM1 TTN
3 positive regulation of ATPase activity GO:0032781 9.7 MYBPC3 TNNT2 TPM1
4 regulation of heart rate GO:0002027 9.69 MYH7 RYR2 SCN5A
5 cardiac myofibril assembly GO:0055003 9.67 ACTC1 MYBPC3 TTN
6 cardiac muscle tissue morphogenesis GO:0055008 9.67 ACTC1 MYBPC3 NKX2-5 TTN
7 ventricular cardiac muscle cell action potential GO:0086005 9.65 PKP2 RYR2 SCN5A
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 MYBPC3 MYH7 PKP2 TNNT2 TPM1
9 skeletal muscle contraction GO:0003009 9.63 MYH7 TNNT2
10 regulation of cardiac muscle contraction GO:0055117 9.63 NKX2-5 RYR2
11 positive regulation of sodium ion transport GO:0010765 9.63 NKX2-5 PKP2 SCN5A
12 sarcomere organization GO:0045214 9.63 LDB3 MYBPC3 NKX2-5 TNNT2 TPM1 TTN
13 regulation of muscle contraction GO:0006937 9.62 TNNT2 TPM1
14 cardiac muscle tissue development GO:0048738 9.62 NKX2-5 TAZ
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 PKP2 SCN5A
16 cardiac muscle fiber development GO:0048739 9.61 MYBPC3 TTN
17 striated muscle contraction GO:0006941 9.61 DTNA MYH7 TTN
18 adult heart development GO:0007512 9.6 MYH7 NKX2-5
19 heart contraction GO:0060047 9.59 ACTC1 NKX2-5
20 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 PKP2 RYR2
21 cardiac muscle hypertrophy GO:0003300 9.58 RYR2 TTN
22 skeletal muscle thin filament assembly GO:0030240 9.58 ACTC1 MYBPC3 TTN
23 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.57 PKP2 RYR2
24 skeletal muscle myosin thick filament assembly GO:0030241 9.56 MYBPC3 TTN
25 ventricular cardiac muscle cell development GO:0055015 9.54 LMNA NKX2-5
26 muscle filament sliding GO:0030049 9.43 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
27 cardiac muscle contraction GO:0060048 9.32 ACTC1 MYBPC3 MYH7 NKX2-5 RYR2 SCN5A

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.62 MYH7 RYR2 SCN5A TTN
2 ion channel binding GO:0044325 9.58 PKP2 RYR2 SCN5A
3 actin binding GO:0003779 9.55 MYBPC3 MYH7 MYH7B TNNT2 TPM1
4 myosin binding GO:0017022 9.43 ACTC1 MYBPC3
5 structural constituent of muscle GO:0008307 9.43 MYBPC3 TPM1 TTN
6 actin filament binding GO:0051015 9.35 MYBPC3 MYH7 MYH7B TPM1 TTN
7 muscle alpha-actinin binding GO:0051371 8.8 LDB3 MYBPC3 TTN
8 protein binding GO:0005515 10.27 DTNA LDB3 LMNA MIB1 MYBPC3 MYH7
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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