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LVHT
MCID: LFT003
MIFTS: 54

Left Ventricular Noncompaction (LVHT)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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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 52 25 58 36 29 6 15 71
Left Ventricular Hypertrabeculation 12 52 25 58
Noncompaction Cardiomyopathy 25 6 71
Spongy Myocardium 52 25 58
Left Ventricular Myocardial Noncompaction Cardiomyopathy 25 71
Lvnc 52 58
Isolated Noncompaction of the Ventricular Myocardium 25
Non-Compaction of the Left Ventricular Myocardium 25
Left Ventricular Non-Compaction 25
Ventricular Noncompaction, Left 39
Non-Compaction Cardiomyopathy 17
Hypertrabeculation Syndrome 25
Honeycomb Myocardium 25
Fetal Myocardium 25
Lvht 25

Characteristics:

Orphanet epidemiological data:

58
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: 33


External Ids:

Disease Ontology 12 DOID:0060480
KEGG 36 H01216
ICD10 via Orphanet 33 I42.8
UMLS via Orphanet 72 C1960469
Orphanet 58 ORPHA54260
UMLS 71 C1839832 C1960469 C3164472
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. Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.

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 MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac muscle contraction and Cardiac conduction. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are cardiovascular system and homeostasis/metabolism

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

NIH Rare Diseases : 52 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.

KEGG : 36 Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive systolic failure, stroke and arrhythmia. It has been linked to mutations in several genes, including LIM domain binding protein 3 (ZASP), alpha-dystrobrevin (DTNA), and genes encoding the sarcomeric proteins, beta-myosin heavy chain (MYH7), alpha-cardiac actin (ACTC), and cardiac troponin T (TNNT2).

Wikipedia : 74 Non-compaction cardiomyopathy (NCC), is a rare congenital cardiomyopathy that affects both children and... 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 420)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1 35.6 LDB3 DTNA
2 left ventricular noncompaction 2 35.3 TTN LVNC2
3 cardiomyopathy, dilated, 1e 34.7 TTN TPM1 SCN5A NKX2-5 MYH7 LMNA
4 cardiomyopathy, dilated, 1d 34.3 TNNT2 LDB3
5 barth syndrome 34.0 TAZ MYH7 MYBPC3 LDB3 DTNA
6 atrial standstill 1 32.7 TTN TPM1 TNNT2 TAZ SCN5A PKP2
7 dilated cardiomyopathy 32.3 TTN TPM1 TNNT2 TAZ SCN5A PRDM16
8 congestive heart failure 32.2 TTN TNNT2 SCN5A MYH7 MYBPC3 LMNA
9 cardiac conduction defect 32.2 SCN5A MYH7 MYBPC3 LMNA
10 hypertrophic cardiomyopathy 32.1 TTN TPM1 TNNT2 TAZ SCN5A PRDM16
11 heart septal defect 32.0 TNNT2 NKX2-5 ACTC1
12 rare cardiomyopathy 32.0 TTN TPM1 TNNT2 TAZ PKP2 MYH7
13 myopathy 32.0 TTN TPM1 TNNT2 TAZ MYH7B MYH7
14 progressive familial heart block, type ia 32.0 TTN SCN5A MYBPC3
15 heart disease 31.9 TTN TNNT2 TAZ SCN5A PKP2 NKX2-5
16 syncope 31.9 TTN TNNT2 SCN5A
17 left bundle branch hemiblock 31.9 TNNT2 SCN5A PKP2 LMNA
18 cardiac arrest 31.7 TTN TNNT2 SCN5A MYH7 MYBPC3
19 ventricular fibrillation, paroxysmal familial, 1 31.7 TNNT2 SCN5A NKX2-5
20 atrial heart septal defect 31.7 TTN TNNT2 SCN5A NKX2-5 MYH7 ACTC1
21 familial isolated dilated cardiomyopathy 31.7 TTN TPM1 TNNT2 TAZ SCN5A PRDM16
22 atrioventricular block 31.7 TTN SCN5A NKX2-5 MYH7 LMNA
23 peripartum cardiomyopathy 31.7 TTN SCN5A MYH7
24 muscular dystrophy 31.6 TTN TNNT2 PKP2 NKX2-5 MYH7 LMNA
25 lipoprotein quantitative trait locus 31.5 TNNT2 SCN5A NKX2-5 LDB3
26 ebstein anomaly 31.5 TPM1 TNNT2 SCN5A NKX2-5 MYH7 MYBPC3
27 long qt syndrome 31.5 TTN SCN5A PKP2 MYH7 MYBPC3 LMNA
28 sick sinus syndrome 31.5 TTN SCN5A LMNA
29 neuromuscular disease 31.5 TTN SCN5A MYH7 LMNA LDB3
30 cardiomyopathy, familial hypertrophic, 4 31.5 TTN TPM1 TNNT2 MYH7 MYBPC3
31 restrictive cardiomyopathy 31.4 TTN TPM1 TNNT2 PRDM16 MYH7 MYBPC3
32 wolff-parkinson-white syndrome 31.4 TNNT2 SCN5A NKX2-5 MYH7 MYBPC3
33 atrial fibrillation 31.4 TTN TNNT2 SCN5A MYH7 MYBPC3 LMNA
34 catecholaminergic polymorphic ventricular tachycardia 31.4 TPM1 TNNT2 SCN5A PKP2 MYH7 MYBPC3
35 tetralogy of fallot 31.4 TPM1 TNNT2 SCN5A NKX2-5 ACTC1
36 brugada syndrome 31.3 TTN TPM1 TNNT2 SCN5A PKP2 NKX2-5
37 congenital fiber-type disproportion 31.2 TTN MYH7 LMNA ACTC1
38 arrhythmogenic right ventricular cardiomyopathy 31.2 TTN SCN5A PKP2 MYH7 LMNA LDB3
39 noonan syndrome with multiple lentigines 31.1 TNNT2 TAZ SCN5A NKX2-5 MYH7 MYBPC3
40 first-degree atrioventricular block 31.1 SCN5A MYH7 LMNA
41 myofibrillar myopathy 31.1 TTN MYH7 LMNA LDB3
42 cardiomyopathy, familial hypertrophic, 1 31.1 TTN TPM1 TNNT2 MYH7B MYH7 MYBPC3
43 aortic valve disease 2 31.1 TTN TNNT2 NKX2-5 MYH7 MYBPC3
44 laminopathy 31.1 SCN5A LMNA
45 muscular dystrophy, congenital, lmna-related 31.0 TTN MYH7 LMNA LDB3 DTNA
46 holt-oram syndrome 31.0 NKX2-5 MYH7 LMNA
47 second-degree atrioventricular block 30.8 TAZ SCN5A
48 patent foramen ovale 30.7 TNNT2 NKX2-5 ACTC1
49 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 12.9
50 left ventricular noncompaction 7 12.8

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
2 homeostasis/metabolism MP:0005376 10.13 ACTC1 LDB3 LMNA MIB1 MIB2 MIPEP
3 growth/size/body region MP:0005378 10.1 ACTC1 DTNA LDB3 LMNA MIB1 MIB2
4 mortality/aging MP:0010768 10.03 ACTC1 DTNA LDB3 LMNA MIB1 MIB2
5 muscle MP:0005369 9.7 ACTC1 DTNA LDB3 LMNA MYBPC3 MYH7
6 normal MP:0002873 9.32 ACTC1 LMNA MIB1 MIB2 MYH7 NKX2-5
Sources

Drugs & Therapeutics for Left Ventricular Noncompaction

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Drugs for Left Ventricular Noncompaction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prognosis of Isolated Left Ventricular Non-compaction in Adults Unknown status NCT02885363
2 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
3 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014
4 Value of Different Myocardial Parameters to Differentiate Left Ventricular Noncompaction Cardiomyopathy From Other Cardiomyopathies and Healthy Controls by Cardiac Magnetic Resonance Completed NCT01481298
5 Increased Left Ventricular Trabeculation in Athletes - a Marker of Left Ventricular Non-compaction or a Physiological Epiphenomenon of Increased Cardiac Preload? Completed NCT02568072
6 Maternal Lipid Metabolism and Neonatal Heart Function in Diabetes Completed NCT01346527
7 Arrhythmogenic Substrate Assessment in Patients With Primary Cardiomyopathies. A Prospective Follow-up Study Recruiting NCT03304847
8 International Consortium for Multimodality Phenotyping in Adults With Non-compaction Not yet recruiting NCT04424030
9 Analysis of Cardiac Biomarkers, Electrocardiograms and Cardio-pulmonary Exercise Test (CPET) Results in Children With Dilated (DCM), Hypertrophic (HCM) and Left-ventricle Non-compaction (LVNC) Cardiomyopathies Not yet recruiting NCT04316923
10 TranslatiOnal Registry for CardiomyopatHies (TORCH) - Plus as Part of the German Centre for Cardiovascular Research (DZHK) Not yet recruiting NCT04265040

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:

40
Heart, Testes, Kidney, Skeletal Muscle
Sources

Publications for Left Ventricular Noncompaction

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Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 922)
# Title Authors PMID Year
1
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. 61 6
29118297 2017
2
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. 61 6
23768516 2013
3
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. 61 6
23314057 2013
4
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 6 61
21551322 2011
5
Mutations in sarcomere protein genes in left ventricular noncompaction. 61 6
18506004 2008
6
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 6 61
16427346 2006
7
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 61 6
11238270 2001
8
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
9
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. 6
26419279 2016
10
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
11
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
12
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. 6
20083571 2010
13
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 6
20215591 2010
14
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 6
18651846 2008
15
Shared genetic causes of cardiac hypertrophy in children and adults. 6
18403758 2008
16
Dilated Cardiomyopathy Overview 6
20301486 2007
17
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 6
17097056 2006
18
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 6
15923195 2005
19
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 6
15519027 2004
20
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 6
15542288 2004
21
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 6
14660611 2004
22
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 6
14662268 2003
23
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 6
12818575 2003
24
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. 6
12379228 2002
25
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 6
11684629 2001
26
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. 6
11273725 2001
27
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 6
11106718 2000
28
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 6
9563954 1998
29
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 6
8205619 1994
30
Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. 6
8088824 1994
31
A significance of school screening electrocardiogram in the patients with ventricular noncompaction. 61
32161993 2020
32
Diagnosis of double-chambered left ventricle using echocardiography. 61
32511806 2020
33
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
34
Left Ventricular Noncompaction: Diagnostic Approach, Prognostic Evaluation, and Management Strategies. 61
31008770 2020
35
Anaesthetic management of a parturient with left ventricular noncompaction cardiomyopathy. 61
32169260 2020
36
A case of incessant bundle branch reentry tachycardia occurring after phase 3 right bundle branch block as a first manifestation of left ventricular noncompaction cardiomyopathy in a patient with bicuspid aortic valve. 61
32461894 2020
37
Late gadolinium enhancement on CMRI in patients with LV noncompaction: An overestimated phenomenon? 61
32480266 2020
38
Recreational marathon running does not cause exercise-induced left ventricular hypertrabeculation. 61
32360651 2020
39
The effect of noncompacted myocardial resection on isolated left ventricular noncompaction. 61
32360189 2020
40
Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction. 61
31985165 2020
41
The role of multimodality imaging in the diagnosis of left ventricular noncompaction. 61
32329049 2020
42
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. 61
31883306 2020
43
Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure. 61
32183154 2020
44
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy. 61
31918855 2020
45
Elevated myocardial SORBS2 and the underlying implications in left ventricular noncompaction cardiomyopathy. 61
32143182 2020
46
Bridging the gap between hypertrabeculation phenotype, noncompaction phenotype and left ventricular noncompaction cardiomyopathy. 61
31895132 2020
47
[Overlapping Phenotype: Left Ventricular non-Compaction and Hypertrophic Cardiomyopathy]. 61
32394868 2020
48
Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases. 61
31930598 2020
49
Left Ventricular Noncompaction and Cardiogenic Shock. 61
32091931 2020
50
Left Ventricular Noncompaction with Multiple Thrombi in Apical Aneurysm. 61
31645531 2020
Sources

Variations for Left Ventricular Noncompaction

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ClinVar genetic disease variations for Left Ventricular Noncompaction:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.20836+1G>ASNV Pathogenic 523428 rs1553915256 2:179590094-179590094 2:178725367-178725367
2 TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs)deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928
3 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)SNV Pathogenic 523473 rs1554093433 5:172659836-172659836 5:173232833-173232833
4 MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505
5 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>ASNV Pathogenic 155808 rs587782958 11:47355103-47355103 11:47333552-47333552
6 MYBPC3 NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)duplication Pathogenic 177698 rs730880336 11:47367806-47367810 11:47346254-47346255
7 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)SNV Pathogenic 208631 rs114638163 13:24380133-24380133 13:23805994-23805994
8 C1QTNF9 , C1QTNF9B , MIPEP , PCOTH , SACS , SGCG , SPATA13 , TNFRSF19 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1copy number loss Pathogenic 208634 13:23519916-24941516
9 MYH7 NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)SNV Pathogenic/Likely pathogenic 181327 rs730880856 14:23900163-23900163 14:23430954-23430954
10 MYBPC3 NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)deletion Pathogenic/Likely pathogenic 164021 rs727503166 11:47353661-47353661 11:47332110-47332110
11 MYH7 NM_000257.4(MYH7):c.732+1G>ASNV Pathogenic/Likely pathogenic 14127 rs730880850 14:23900793-23900793 14:23431584-23431584
12 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
13 MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)SNV Likely pathogenic 42822 rs397516089 14:23899016-23899016 14:23429807-23429807
14 MYH7 NM_000257.4(MYH7):c.1000-1G>ASNV Likely pathogenic 637005 14:23899123-23899123 14:23429914-23429914
15 SCN5A NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)SNV risk factor 9393 rs7626962 3:38620907-38620907 3:38579416-38579416
16 ACTC1 NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)SNV Likely pathogenic 177886 rs727504379 15:35083439-35083439 15:34791238-34791238
17 VCL NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter)SNV Likely pathogenic 166556 rs727503741 10:75874107-75874107 10:74114349-74114349
18 MYH7 NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)SNV Likely pathogenic 164299 rs727503249 14:23888797-23888797 14:23419588-23419588
19 MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)SNV Likely pathogenic 164378 rs727503269 14:23898538-23898538 14:23429329-23429329
20 MYH7 NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)deletion Likely pathogenic 42968 rs397516190 14:23889120-23889122 14:23419911-23419913
21 ACTC1 NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)SNV Likely pathogenic 45190 rs397517071 15:35084293-35084293 15:34792092-34792092
22 DTNA NM_001390.4(DTNA):c.177A>G (p.Ile59Met)SNV Likely pathogenic 374197 rs1057518968 18:32374029-32374029 18:34794065-34794065
23 TGFB3 NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu)SNV Conflicting interpretations of pathogenicity 192131 rs142047577 14:76446944-76446944 14:75980601-75980601
24 LMNA NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)SNV Conflicting interpretations of pathogenicity 48045 rs201583907 1:156106982-156106982 1:156137191-156137191
25 RYR2 NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)SNV Conflicting interpretations of pathogenicity 165128 rs571985775 1:237949299-237949299 1:237785999-237785999
26 BAG3 NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)SNV Conflicting interpretations of pathogenicity 179009 rs201638005 10:121431912-121431912 10:119672400-119672400
27 MYBPC3 NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)SNV Conflicting interpretations of pathogenicity 177902 rs573916965 11:47367848-47367848 11:47346297-47346297
28 MYBPC3 NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)SNV Conflicting interpretations of pathogenicity 42711 rs370890951 11:47354463-47354463 11:47332912-47332912
29 JUP NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)SNV Conflicting interpretations of pathogenicity 468745 rs376051686 17:39915113-39915113 17:41758861-41758861
30 TTN NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)SNV Conflicting interpretations of pathogenicity 511503 rs182422055 2:179414298-179414298 2:178549571-178549571
31 ANKRD1 NM_014391.2(ANKRD1):c.806G>A (p.Arg269Gln)SNV Uncertain significance 520516 rs367609929 10:92675343-92675343 10:90915586-90915586
32 RYR2 NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)SNV Uncertain significance 488158 rs1553325274 1:237951371-237951371 1:237788071-237788071
33 PKP2 NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)SNV Uncertain significance 403313 rs200947767 12:32949098-32949098 12:32796164-32796164
34 TAZ NM_000116.5(TAZ):c.680dup (p.Tyr227Ter)duplication Uncertain significance 446166 rs1557194203 X:153648583-153648584 X:154420244-154420245
35 MYH6 NM_002471.3(MYH6):c.3413G>A (p.Arg1138His)SNV Uncertain significance 470523 rs745801044 14:23859585-23859585 14:23390376-23390376
36 MYH7 NM_000257.4(MYH7):c.732+2T>GSNV Uncertain significance 454395 rs1555338658 14:23900792-23900792 14:23431583-23431583
37 DSP NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)SNV Uncertain significance 642389 6:7578028-7578028 6:7577795-7577795
38 PKP2 NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys)SNV Uncertain significance 684846 12:32974425-32974425 12:32821491-32821491
39 MYH7 NM_000257.4(MYH7):c.803T>G (p.Leu268Arg)SNV Uncertain significance 684854 14:23900202-23900202 14:23430993-23430993
40 TPM1 NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)SNV Uncertain significance 178148 rs371934474 15:63356287-63356287 15:63064088-63064088
41 MYH6 NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)SNV Uncertain significance 44482 rs376002621 14:23859615-23859615 14:23390406-23390406
42 MIPEP NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)SNV Uncertain significance 208628 rs1057518739 13:24380192-24380192 13:23806053-23806053
43 MIPEP NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln)SNV Uncertain significance 208629 rs1057518740 13:24460623-24460623 13:23886484-23886484
44 MIPEP NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe)SNV Uncertain significance 208630 rs143912947 13:24443458-24443458 13:23869319-23869319
45 MIPEP NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)SNV Uncertain significance 208632 rs1057518741 13:24436467-24436467 13:23862328-23862328
46 MIPEP NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)SNV Uncertain significance 208633 rs779598020 13:24411700-24411700 13:23837561-23837561
47 JUP NM_002230.4(JUP):c.2105G>A (p.Arg702His)SNV Uncertain significance 178849 rs200690479 17:39912129-39912129 17:41755877-41755877
48 C1QTNF9 , C1QTNF9B , MIPEP , PCOTH , SACS , SGCG , SPATA13 , TNFRSF19 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1copy number loss Likely benign 443112 13:23519916-24941516
49 HCN4 NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)SNV Benign/Likely benign 137542 rs148398509 15:73615786-73615786 15:73323445-73323445
50 MYH7 NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)SNV Benign 42941 rs145532615 14:23892910-23892910 14:23423701-23423701
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:

36
# 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 65
Show member pathways
 12.57 TTN TPM1 TNNT2 SCN5A NKX2-5 MYBPC3
2
cGMP-PKG signaling pathway 36
Show member pathways
 12.3 TPM1 TNNT2 SCN5A MYH7 ACTC1
3
Cytoskeletal Signaling 4
12.25 TPM1 TNNT2 LMNA ACTC1
4
Cardiac muscle contraction 36
11.5 TPM1 TNNT2 MYH7 ACTC1
5
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.44 TTN TPM1 TNNT2 MYH7 MYBPC3 LMNA
6
Striated Muscle Contraction 65 1
11.21 TTN TPM1 TNNT2 MYBPC3 ACTC1
7
Cardiac Progenitor Differentiation 1
11.18 TNNT2 SCN5A NKX2-5 ACTC1
8
Cardiomyocyte Differentiation through BMP Receptors 63
10.84 NKX2-5 MYH7B MYH7
9
HOP Signaling 63
10.21 NKX2-5 ACTC1
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 cytoplasm GO:0005737 10.25 TTN TPM1 TAZ SCN5A PRDM16 PLEKHM2
2 Z disc GO:0030018 9.56 TTN SCN5A MYH7 LDB3
3 stress fiber GO:0001725 9.5 TPM1 MYH7 LDB3
4 I band GO:0031674 9.43 TTN ACTC1
5 striated muscle thin filament GO:0005865 9.37 TTN TNNT2
6 myosin filament GO:0032982 9.33 MYH7B MYH7 MYBPC3
7 cardiac myofibril GO:0097512 9.13 TNNT2 MYH7B MYBPC3
8 sarcomere GO:0030017 9.1 TTN TPM1 TNNT2 MYH7 MYBPC3 ACTC1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.85 TAZ PKP2 NKX2-5 MIB1 LDB3
2 muscle contraction GO:0006936 9.72 TTN TPM1 TNNT2 TAZ MYH7
3 positive regulation of ATPase activity GO:0032781 9.65 TPM1 TNNT2 MYBPC3
4 sarcomere organization GO:0045214 9.65 TTN TPM1 TNNT2 NKX2-5 LDB3
5 striated muscle contraction GO:0006941 9.61 TTN MYH7 DTNA
6 cardiac muscle tissue development GO:0048738 9.58 TAZ NKX2-5
7 regulation of muscle contraction GO:0006937 9.58 TPM1 TNNT2
8 positive regulation of sodium ion transport GO:0010765 9.58 SCN5A PKP2 NKX2-5
9 ventricular cardiac muscle cell action potential GO:0086005 9.57 SCN5A PKP2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 SCN5A PKP2
11 heart contraction GO:0060047 9.55 NKX2-5 ACTC1
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 TPM1 TNNT2 PKP2 MYH7 MYBPC3
13 cardiac myofibril assembly GO:0055003 9.54 TTN ACTC1
14 cardiac muscle tissue morphogenesis GO:0055008 9.54 TTN NKX2-5 ACTC1
15 adult heart development GO:0007512 9.52 NKX2-5 MYH7
16 ventricular cardiac muscle cell development GO:0055015 9.51 NKX2-5 LMNA
17 skeletal muscle thin filament assembly GO:0030240 9.49 TTN ACTC1
18 muscle filament sliding GO:0030049 9.43 TTN TPM1 TNNT2 MYH7 MYBPC3 ACTC1
19 cardiac muscle contraction GO:0060048 9.28 TTN TPM1 TNNT2 TAZ SCN5A NKX2-5

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.46 TTN TPM1 MYH7B MYH7
2 myosin binding GO:0017022 9.32 MYBPC3 ACTC1
3 muscle alpha-actinin binding GO:0051371 9.26 TTN LDB3
4 actin binding GO:0003779 9.17 TPM1 TNNT2 MYH7B MYH7 MYBPC3 MIB2
5 structural constituent of muscle GO:0008307 9.13 TTN TPM1 MYBPC3
Sources

Sources for Left Ventricular Noncompaction

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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