MCID: LFT003
MIFTS: 55

Left Ventricular Noncompaction

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Left Ventricular Noncompaction

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:



External Ids:

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

Summaries for Left Ventricular Noncompaction

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...

Related Diseases for Left Ventricular Noncompaction

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 206)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1 35.1 DTNA LDB3
2 left ventricular noncompaction 2 34.5 LVNC2 TTN
3 cardiomyopathy, dilated, 1e 33.5 LMNA MYH7 NKX2-5 TPM1 TTN
4 barth syndrome 33.3 DTNA LDB3 TAZ
5 atrial standstill 1 31.3 LMNA MIPEP MYBPC3 MYH7 PKP2 TAZ
6 hypertrophic cardiomyopathy 31.1 ACTC1 LDB3 LMNA MYBPC3 MYH7 RYR2
7 sick sinus syndrome 31.0 HCN4 LMNA TTN
8 cardiac arrest 30.9 MYBPC3 MYH7 RYR2 TNNT2
9 long qt syndrome 30.9 HCN4 MYBPC3 PKP2 RYR2
10 peripartum cardiomyopathy 30.8 MYH7 TTN
11 cardiomyopathy, familial hypertrophic, 4 30.6 MYBPC3 TTN
12 ebstein anomaly 30.6 MYH7 NKX2-5 TPM1
13 cardiac conduction defect 30.6 LMNA MYBPC3 MYH7 RYR2
14 cardiomyopathy, familial hypertrophic, 1 30.5 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
15 ventricular fibrillation, paroxysmal familial, 1 30.5 NKX2-5 RYR2 TNNT2
16 atrioventricular block 30.3 HCN4 LMNA NKX2-5
17 dilated cardiomyopathy 30.0 ACTC1 DTNA LDB3 LMNA MYBPC3 MYH7
18 heart disease 29.8 ACTC1 HCN4 LMNA MYBPC3 MYH7 NKX2-5
19 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.8
20 left ventricular noncompaction 7 12.7
21 left ventricular noncompaction 10 12.7
22 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 12.6
23 left ventricular noncompaction 8 12.6
24 cardiomyopathy, dilated, 1d 12.1
25 cardiomyopathy, dilated, 1r 12.1
26 mental retardation, x-linked, syndromic 34 12.0
27 3-methylglutaconic aciduria, type v 11.6
28 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 11.4
29 combined oxidative phosphorylation deficiency 31 11.4
30 rere-related disorders 10.6
31 myopathy, spheroid body 10.5 LDB3 MYH7 TTN
32 myopathy, myofibrillar, 4 10.5 DTNA LDB3
33 arrhythmogenic right ventricular dysplasia, familial, 1 10.5 RYR2 TTN
34 second-degree atrioventricular block 10.4 HCN4 LMNA
35 campomelic dysplasia 10.4 LMNA MYBPC3 TTN
36 myofibrillar myopathy 10.4 LDB3 LMNA TTN
37 myopathy, myofibrillar, 3 10.4 LDB3 TTN
38 myopathy 10.4
39 restrictive cardiomyopathy 10.4 ACTC1 MYBPC3 MYH7 TNNT2 TPM1 TTN
40 central core myopathy 10.4 MYH7 RYR2
41 arrhythmogenic right ventricular dysplasia, familial, 9 10.4 PKP2 RYR2
42 long qt syndrome 1 10.4 HCN4 PKP2 RYR2
43 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 LDB3 LMNA PKP2 RYR2 TTN
44 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 LDB3 LMNA PKP2 RYR2 TTN
45 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 LDB3 LMNA PKP2 RYR2 TTN
46 congestive heart failure 10.3
47 endocardial fibroelastosis 10.3 MYH7 TAZ
48 aortic valve disease 1 10.3
49 chromosomal triplication 10.3
50 arrhythmogenic right ventricular dysplasia, familial, 8 10.3 PKP2 RYR2

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



Diseases related to Left Ventricular Noncompaction

Symptoms & Phenotypes for Left Ventricular Noncompaction

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

Drugs & Therapeutics for Left Ventricular Noncompaction

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

Genetic Tests for Left Ventricular Noncompaction

Genetic tests related to Left Ventricular Noncompaction:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 30

Anatomical Context for Left Ventricular Noncompaction

MalaCards organs/tissues related to Left Ventricular Noncompaction:

42
Heart, Kidney, Testes, Skeletal Muscle, Adrenal Gland

Publications for Left Ventricular Noncompaction

Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 625)
# Title Authors Year
1
Cardiac sarcoidosis mimicking left ventricular noncompaction: An approach to acquired apical hypertrabeculation. ( 30834555 )
2019
2
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. ( 30527948 )
2019
3
Meta-Analysis of the Prognostic Role of Late Gadolinium Enhancement and Global Systolic Impairment in Left Ventricular Noncompaction. ( 30878415 )
2019
4
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
5
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. ( 30924982 )
2019
6
Cardiac Segmental Strain Analysis in Pediatric Left Ventricular Noncompaction Cardiomyopathy. ( 30926406 )
2019
7
Left Ventricular Noncompaction: Phenotype in an Integrated Model of Cardiomyopathy? ( 30947912 )
2019
8
Left ventricular noncompaction and orthodromic atrioventricular tachycardia observed in a patient with neurofibromatosis type 1. ( 30949358 )
2019
9
Left Ventricular Twist Mechanics to Identify Left Ventricular Noncompaction in Childhood. ( 31002265 )
2019
10
Left Ventricular Noncompaction: Better Alone Than in Bad Company. ( 31005523 )
2019
11
Left Ventricular Noncompaction: Diagnostic Approach, Prognostic Evaluation, and Management Strategies. ( 31008770 )
2019
12
Left ventricular noncompaction in a Para athlete. ( 31090793 )
2019
13
Anticoagulation Therapy in Specific Cardiomyopathies: Isolated Left Ventricular Noncompaction and Peripartum Cardiomyopathy. ( 29911432 )
2019
14
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarker, and speckle imaging. ( 29960849 )
2019
15
A rare case of Ebstein's anomaly with left ventricular noncompaction. ( 30080103 )
2019
16
Left Ventricular noncompaction in a patient with systemic lupus erythematosus. ( 30379642 )
2019
17
Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarkers, and speckle imaging. ( 30487060 )
2019
18
Left ventricular noncompaction, morphological, and clinical features for an integrated diagnosis. ( 30612215 )
2019
19
Catheter ablation of a right posterior accessory pathway in a patient with left ventricular noncompaction: A case report. ( 30702587 )
2019
20
Titin-truncating Variants Are Associated with Heart Failure Events in Patients with Left Ventricular Noncompaction Cardiomyopathy. ( 30851055 )
2019
21
Understanding left ventricular hypertrabeculation/noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities. ( 30570401 )
2019
22
Prognostic role of Pro-BNP levels in left ventricular hypertrabeculation/noncompaction and neuromuscular disorders: results of a pilot study. ( 30919605 )
2019
23
Value of Cardiac Magnetic Resonance Fractal Analysis Combined With Myocardial Strain in Discriminating Isolated Left Ventricular Noncompaction and Dilated Cardiomyopathy. ( 30565346 )
2018
24
An Adolescent with Left Ventricular Noncompaction and Ebstein Anomaly Presenting with Advanced Heart Failure: Discharge from Hospital with a Biventricular Assist Device. ( 30217690 )
2018
25
Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease. ( 29755943 )
2018
26
Left ventricular noncompaction or hypertrophic cardiomyopathy? Both! ( 28803523 )
2018
27
The presence of multiple variants affects the clinical phenotype and prognosis in left ventricular noncompaction after surgery. ( 29203216 )
2018
28
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
29
Left Ventricular Noncompaction: From Physiologic Remodeling to Noncompaction Cardiomyopathy. ( 29447732 )
2018
30
Long-Term Outcomes of Childhood Left Ventricular Noncompaction Cardiomyopathy. ( 29514799 )
2018
31
Predictors of poor outcome in patients with left ventricular noncompaction: Review of the literature. ( 29558024 )
2018
32
Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction. ( 29568952 )
2018
33
Echocardiographic and clinical markers of left ventricular ejection fraction and moderate or greater systolic dysfunction in left ventricular noncompaction cardiomyopathy. ( 29577407 )
2018
34
A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. ( 29629024 )
2018
35
Usefulness of a left ventricular assist device in patients with left ventricular noncompaction. ( 29686556 )
2018
36
Potential Common Pathogenic Pathways for the Left Ventricular Noncompaction Cardiomyopathy (LVNC). ( 29766225 )
2018
37
Cardiomyopathy Phenotypes and Pregnancy Outcomes with Left Ventricular Noncompaction Cardiomyopathy. ( 29794382 )
2018
38
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
39
Improvement of the Diagnosis of Left Ventricular Noncompaction Cardiomyopathy After Analyzing Both Advantages and Disadvantages of Echocardiography and CMRI. ( 29859913 )
2018
40
Whole-Exome Sequencing Reveals GATA4 and PTEN Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction. ( 29874181 )
2018
41
Clinical and Echocardiography Features of Diagnosed in Adulthood Isolated Left Ventricular Noncompaction: A Case Series Study. ( 30065511 )
2018
42
Left ventricular noncompaction in patients with coronary artery disease: Preliminary analysis of echocardiographic findings. ( 30105764 )
2018
43
Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum. ( 30109595 )
2018
44
Clinical and Genetic Complexities of Left Ventricular Noncompaction: Preventing Overdiagnosis in a Disease We Do Not Understand. ( 30140926 )
2018
45
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction. ( 30188508 )
2018
46
The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction. ( 30279906 )
2018
47
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
48
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy. ( 30371277 )
2018
49
Are We Getting Closer to Risk Stratification in Left Ventricular Noncompaction Cardiomyopathy? ( 30371282 )
2018
50
Case presentation commentary on "Rosai-Dorfman disease and left ventricular noncompaction cardiomyopathy: A heart failure conundrum." ( 30397865 )
2018

Variations for Left Ventricular Noncompaction

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 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 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 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

Expression for Left Ventricular Noncompaction

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

Pathways for Left Ventricular Noncompaction

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
Show member pathways
12.72 ACTC1 MYH7 RYR2 TNNT2 TPM1
2
Show member pathways
12.53 MYBPC3 NKX2-5 RYR2 TNNT2 TPM1 TTN
3 12.27 ACTC1 LMNA TNNT2 TPM1
4
Show member pathways
11.47 ACTC1 LMNA MYBPC3 MYH7 RYR2 TNNT2
5 11.45 ACTC1 MYH7 RYR2 TNNT2 TPM1
6 11.36 HCN4 LMNA RYR2
7 11.27 ACTC1 NKX2-5 TNNT2
8 11.21 ACTC1 MYBPC3 TNNT2 TPM1 TTN
9 10.78 MYH7 MYH7B NKX2-5
10 10.18 ACTC1 NKX2-5

GO Terms for Left Ventricular Noncompaction

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 for Left Ventricular Noncompaction

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
Content
Loading form....