LVHT
MCID: LFT003
MIFTS: 57

Left Ventricular Noncompaction (LVHT)

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

Aliases & Classifications for Left Ventricular Noncompaction

MalaCards integrated aliases for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 12 20 43 58 36 29 6 15 71
Left Ventricular Hypertrabeculation 12 20 43 58
Noncompaction Cardiomyopathy 43 6 71
Spongy Myocardium 20 43 58
Left Ventricular Myocardial Noncompaction Cardiomyopathy 43 71
Isolated Noncompaction of the Ventricular Myocardium 43 17
Lvnc 20 58
Non-Compaction of the Left Ventricular Myocardium 43
Left Ventricular Non-Compaction 43
Ventricular Noncompaction, Left 39
Non-Compaction Cardiomyopathy 17
Hypertrabeculation Syndrome 43
Honeycomb Myocardium 43
Fetal Myocardium 43
Lvht 43

Characteristics:

Orphanet epidemiological data:

58
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 36 H01216
ICD10 via Orphanet 33 I42.8
UMLS via Orphanet 72 C1960469
Orphanet 58 ORPHA54260
UMLS 71 C1839832 C1960469 C3164472

Summaries for Left Ventricular Noncompaction

MedlinePlus Genetics : 43 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 cardiomyopathy, dilated, 1e. 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. Affiliated tissues include heart, kidney and skeletal muscle, 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.

GARD : 20 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...

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 440)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1 33.7 PKP2 LDB3 DTNA
2 cardiomyopathy, dilated, 1e 33.7 TTN-AS1 TTN TPM1 RBM20 PKP2 MYH7
3 left ventricular noncompaction 10 33.4 MYBPC3 MADD
4 left ventricular noncompaction 2 33.3 TTN-AS1 TTN
5 barth syndrome 33.0 TTN TNNT2 MYH7 MYBPC3 LDB3 DTNA
6 atrial standstill 1 32.5 TTN-AS1 TTN TPM1 TNNT2 RBM20 PKP2
7 dilated cardiomyopathy 32.2 TTN-AS1 TTN TPM1 TNNT2 RBM20 PRDM16
8 cardiac conduction defect 32.0 MYH7 MYBPC3 LMNA
9 hypertrophic cardiomyopathy 32.0 TTN TPM1 TNNT2 RBM20 PKP2 NKX2-5
10 heart disease 31.9 TTN TPM1 TNNT2 PKP2 NKX2-5 MYH7
11 myopathy 31.9 TTN-AS1 TTN TPM1 TNNT2 MYH7B MYH7
12 heart septal defect 31.8 TNNT2 NKX2-5 ACTC1
13 mitral valve insufficiency 31.7 TTN TNNT2 MYH7 MYBPC3
14 left bundle branch hemiblock 31.7 TNNT2 PKP2 LMNA
15 cardiac arrest 31.6 TTN TNNT2 MYH7 MYBPC3
16 muscular dystrophy 31.6 TTN-AS1 TTN TNNT2 NKX2-5 MYH7 LMNA
17 atrial heart septal defect 31.5 TNNT2 NKX2-5 MYH7 ACTC1
18 atrioventricular block 31.5 TTN-AS1 TTN NKX2-5 MYH7 LMNA DES
19 endocardial fibroelastosis 31.5 MYH7 LDB3 DTNA
20 familial isolated dilated cardiomyopathy 31.4 TTN-AS1 TTN TPM1 TNNT2 RBM20 PRDM16
21 neuromuscular disease 31.4 TTN-AS1 TTN MYH7 LMNA LDB3 DES
22 lipoprotein quantitative trait locus 31.4 TTN TNNT2 PKP2 NKX2-5 MYH7 MYBPC3
23 ebstein anomaly 31.3 TPM1 TNNT2 NKX2-5 MYH7 MYBPC3 LDB3
24 long qt syndrome 31.3 TTN-AS1 TTN RBM20 PKP2 MYH7 MYBPC3
25 wolff-parkinson-white syndrome 31.3 TTN-AS1 TNNT2 NKX2-5 MYH7 MYBPC3 ACTC1
26 atrial fibrillation 31.3 TTN MYH7 MYBPC3 LMNA
27 emery-dreifuss muscular dystrophy 31.3 TTN LMNA LDB3 DES
28 muscular dystrophy, duchenne type 31.3 TTN TNNT2 DTNA DES
29 restrictive cardiomyopathy 31.3 TTN-AS1 TTN TPM1 TNNT2 PRDM16 MYH7
30 catecholaminergic polymorphic ventricular tachycardia 31.2 TPM1 TNNT2 PKP2 MYH7 MYBPC3 LMNA
31 tetralogy of fallot 31.2 TPM1 TNNT2 NKX2-5 ACTC1
32 brugada syndrome 31.2 TTN-AS1 TTN TPM1 TNNT2 RBM20 PKP2
33 arrhythmogenic right ventricular cardiomyopathy 31.1 TTN RBM20 PKP2 MYH7 LMNA LDB3
34 centronuclear myopathy 31.1 TTN-AS1 TTN DES
35 cardiomyopathy, familial hypertrophic, 4 31.0 TTN TPM1 TNNT2 MYH7 MYBPC3
36 dextrocardia 31.0 TNNT2 MYH7 ACTC1
37 ventricular fibrillation, paroxysmal familial, 1 31.0 TNNT2 NKX2-5
38 myofibrillar myopathy 31.0 TTN MYH7 LMNA LDB3 DES
39 cardiomyopathy, familial hypertrophic, 1 30.9 TTN TPM1 TNNT2 MYH7B MYH7 MYBPC3
40 rasopathy 30.9 TTN TNNT2 NKX2-5 MYH7 MYBPC3 ACTC1
41 aortic valve disease 2 30.9 TTN TNNT2 NKX2-5 MYH7 MYBPC3
42 noonan syndrome with multiple lentigines 30.9 TNNT2 NKX2-5 MYH7 MYBPC3
43 diastolic heart failure 30.9 TTN MYBPC3 MADD
44 multiminicore disease 30.8 TTN-AS1 TTN
45 holt-oram syndrome 30.8 NKX2-5 MYH7 LMNA
46 first-degree atrioventricular block 30.8 MYH7 LMNA
47 muscular dystrophy, congenital, lmna-related 30.8 TTN-AS1 TTN MYH7 LMNA LDB3 DTNA
48 patent foramen ovale 30.7 TNNT2 NKX2-5 ACTC1
49 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 11.8
50 left ventricular noncompaction 7 11.7

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 ACTC1 DES DTNA LDB3 LMNA MIB1
2 homeostasis/metabolism MP:0005376 10.16 ACTC1 DES LDB3 LMNA MADD MIB1
3 mortality/aging MP:0010768 10.03 ACTC1 DES DTNA LDB3 LMNA MADD
4 muscle MP:0005369 9.73 ACTC1 DES DTNA LDB3 LMNA MYBPC3
5 normal MP:0002873 9.23 ACTC1 LMNA MIB1 MYH7 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
2 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014
3 Value of Different Myocardial Parameters to Differentiate Left Ventricular Noncompaction Cardiomyopathy From Other Cardiomyopathies and Healthy Controls by Cardiac Magnetic Resonance Completed NCT01481298
4 Increased Left Ventricular Trabeculation in Athletes - a Marker of Left Ventricular Non-compaction or a Physiological Epiphenomenon of Increased Cardiac Preload? Completed NCT02568072
5 International Consortium for Multimodality Phenotyping in Adults With Non-compaction Not yet recruiting NCT04424030
6 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

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 29

Anatomical Context for Left Ventricular Noncompaction

MalaCards organs/tissues related to Left Ventricular Noncompaction:

40
Heart, Kidney, Skeletal Muscle

Publications for Left Ventricular Noncompaction

Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 959)
# Title Authors PMID Year
1
Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. 6 61
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. 6 61
23314057 2013
4
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 61 6
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. 61 6
16427346 2006
7
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 61 6
11238270 2001
8
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. 6
20083571 2010
9
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 6
20215591 2010
10
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 6
18651846 2008
11
Shared genetic causes of cardiac hypertrophy in children and adults. 6
18403758 2008
12
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 6
17097056 2006
13
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 6
15923195 2005
14
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 6
15519027 2004
15
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 6
15542288 2004
16
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 6
14660611 2004
17
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 6
14662268 2003
18
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 6
12818575 2003
19
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. 6
12379228 2002
20
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 6
11684629 2001
21
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. 6
11273725 2001
22
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 6
11106718 2000
23
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 6
9563954 1998
24
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 6
8205619 1994
25
Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. 6
8088824 1994
26
Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide. 61
33001359 2021
27
Cardiac complications in inherited mitochondrial diseases. 61
32728985 2021
28
Changes in strain parameters at different deterioration levels of left ventricular function: A cardiac magnetic resonance feature-tracking study of patients with left ventricular noncompaction. 61
33577906 2021
29
Congenital atresia of the left main coronary artery with left ventricular noncompaction: From infancy to adulthood. 61
33583822 2021
30
Additional information on our report: Trabeculectomy for left ventricular noncompaction. 61
33581163 2021
31
The genetics of left ventricular noncompaction. 61
33605617 2021
32
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies. 61
33325730 2021
33
Long-Term Survival of Patients With Left Ventricular Noncompaction. 61
33441029 2021
34
The value of cardiac magnetic resonance imaging and programmed ventricular stimulation in patients with ventricular noncompaction and ventricular arrhythmias. 61
33442886 2021
35
Arrhythmic risk stratification in left ventricular noncompaction. 61
33442920 2021
36
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies. 61
33500567 2021
37
RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart. 61
33450993 2021
38
A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction, and thoracic aortic aneurysm. 61
33185997 2021
39
Left Ventricular Noncompaction Cardiomyopathy: New Clues in a Not So New Disease? 61
33442993 2021
40
Catheter ablation of ventricular arrhythmias in left ventricular noncompaction cardiomyopathy. 61
33346135 2020
41
[Clinical pathway for cardiomyopathies: a genetic testing strategy proposed by ANMCO in Tuscany]. 61
33231212 2020
42
A burden of sarcomere gene variants in fetal-onset patients with left ventricular noncompaction. 61
33309763 2020
43
Diagnosis of Double-chambered Left Ventricle of Superior-inferior Type by Echocardiography: A Retrospective Study of 9 Subjects across Two Heart Centers. 61
33368575 2020
44
Effect of Noncompacted Myocardial Resection on Isolated Left Ventricular Noncompaction. 61
32360189 2020
45
Late gadolinium enhancement on CMRI in patients with LV noncompaction: An overestimated phenomenon? 61
32480266 2020
46
Expanding the Clinical Phenotype of Emerinopathies: Atrial Standstill and Left Ventricular Noncompaction. 61
33079577 2020
47
Genetic architecture of left ventricular noncompaction in adults. 61
33419992 2020
48
Association Between Left Ventricular Noncompaction and Vigorous Physical Activity. 61
33032733 2020
49
Left Ventricular Noncompaction and Vigorous Physical Activity: What Is the Connection? 61
33032734 2020
50
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020

Variations for Left Ventricular Noncompaction

ClinVar genetic disease variations for Left Ventricular Noncompaction:

6 (show top 50) (show all 1287)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDB3 NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) SNV Pathogenic 4730 rs121908336 10:88466426-88466426 10:86706669-86706669
2 LDB3 NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) SNV Pathogenic 4732 rs121908337 10:88441488-88441488 10:86681731-86681731
3 LDB3 NM_007078.3(LDB3):c.690-4789A>T SNV Pathogenic 4734 rs121908339 10:88446864-88446864 10:86687107-86687107
4 LDB3 NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) SNV Pathogenic 4735 rs45514002 10:88485932-88485932 10:86726175-86726175
5 DTNA NM_001390.4(DTNA):c.362C>T (p.Pro121Leu) SNV Pathogenic 8306 rs104894654 18:32374214-32374214 18:34794250-34794250
6 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 1:201334766-201334766 1:201365638-201365638
7 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
8 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) SNV Pathogenic 12415 rs74315380 1:201333494-201333494 1:201364366-201364366
9 TNNT2 NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu) SNV Pathogenic 12416 rs121964860 1:201331116-201331116 1:201361988-201361988
10 TNNT2 NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn) SNV Pathogenic 12417 rs121964861 1:201328764-201328764 1:201359636-201359636
11 TPM1 NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) SNV Pathogenic 12458 rs104894505 15:63336271-63336271 15:63044072-63044072
12 TPM1 NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) SNV Pathogenic 12459 rs104894501 15:63336229-63336229 15:63044030-63044030
13 MYH7 NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) SNV Pathogenic 14108 rs121913642 14:23897088-23897088 14:23427879-23427879
14 MYH7 NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu) SNV Pathogenic 14109 rs121913643 14:23894622-23894622 14:23425413-23425413
15 MYH7 NM_000257.4(MYH7):c.667G>A (p.Ala223Thr) SNV Pathogenic 14112 rs121913645 14:23900859-23900859 14:23431650-23431650
16 MYH7 NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) SNV Pathogenic 14113 rs121913646 14:23896480-23896480 14:23427271-23427271
17 TTN NM_001267550.2(TTN):c.20836+1G>A SNV Pathogenic 523428 rs1553915256 2:179590094-179590094 2:178725367-178725367
18 MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) SNV Pathogenic 42822 rs397516089 14:23899016-23899016 14:23429807-23429807
19 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del) Microsatellite Pathogenic 43659 rs45578238 1:201331099-201331101 1:201361971-201361973
20 PRDM16 NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) SNV Pathogenic 60724 rs397514742 1:3328865-3328865 1:3412301-3412301
21 PRDM16 PRDM16, 1-BP DUP, 1573C Duplication Pathogenic 60725
22 PRDM16 NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) SNV Pathogenic 60726 rs397514743 1:3329208-3329208 1:3412644-3412644
23 TNNT2 NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys) SNV Pathogenic 224775 rs869312881 1:201334414-201334414 1:201365286-201365286
24 MYH7 NM_000257.4(MYH7):c.732+1G>A SNV Pathogenic 14127 rs730880850 14:23900793-23900793 14:23431584-23431584
25 MYH7 NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) SNV Pathogenic 181327 rs730880856 14:23900163-23900163 14:23430954-23430954
26 MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) SNV Pathogenic 164378 rs727503269 14:23898538-23898538 14:23429329-23429329
27 MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505
28 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) SNV Pathogenic 43628 rs397516457 1:201334419-201334419 1:201365291-201365291
29 TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) SNV Pathogenic 43649 rs397516471 1:201332476-201332476 1:201363348-201363348
30 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del) Microsatellite Pathogenic 43648 rs397516470 1:201332505-201332507 1:201363377-201363379
31 TNNT2 NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) SNV Pathogenic 165539 rs121964860 1:201331116-201331116 1:201361988-201361988
32 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) SNV Pathogenic 43636 rs397516463 1:201333497-201333497 1:201364369-201364369
33 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) SNV Pathogenic 43629 rs397516457 1:201334419-201334419 1:201365291-201365291
34 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) SNV Pathogenic 177634 rs727504246 1:201332458-201332458 1:201363330-201363330
35 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) SNV Pathogenic 43627 rs397516456 1:201334426-201334426 1:201365298-201365298
36 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) SNV Pathogenic 228409 rs727503512 1:201332477-201332477 1:201363349-201363349
37 RBM20 NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) SNV Pathogenic 268 rs267607003 10:112572068-112572068 10:110812310-110812310
38 LMNA NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) Microsatellite Pathogenic 66955 rs59684335 1:156105071-156105072 1:156135280-156135281
39 DES NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) Deletion Pathogenic 265807 rs1114167327 2:220290428-220290431 2:219425706-219425709
40 DES NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) Indel Pathogenic 265817 rs1114167332 2:220283677-220283704 2:219418955-219418982
41 LMNA NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) SNV Pathogenic 66908 rs59026483 1:156104248-156104248 1:156134457-156134457
42 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
43 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) SNV Pathogenic 12415 rs74315380 1:201333494-201333494 1:201364366-201364366
44 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
45 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del) Microsatellite Pathogenic 43659 rs45578238 1:201331099-201331101 1:201361971-201361973
46 TNNT2 NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) SNV Pathogenic 43642 rs397516466 1:201333469-201333469 1:201364341-201364341
47 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV Pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292
48 MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505
49 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) SNV Pathogenic 208631 rs114638163 13:24380133-24380133 13:23805994-23805994
50 C1QTNF9 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516

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:

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
Show member pathways
12.53 TTN TPM1 TNNT2 NKX2-5 MYBPC3 DES
2
Show member pathways
12.28 TPM1 TNNT2 MYH7 ACTC1
3 12.25 TPM1 TNNT2 LMNA DES ACTC1
4 11.61 TNNT2 NKX2-5 DES
5
Show member pathways
11.49 TTN TPM1 TNNT2 MYH7 MYBPC3 LMNA
6 11.4 TPM1 TNNT2 MYH7 ACTC1
7 11.3 TNNT2 NKX2-5 ACTC1
8 11.29 TTN TPM1 TNNT2 MYBPC3 DES ACTC1
9 10.78 NKX2-5 MYH7B MYH7
10 10.21 NKX2-5 ACTC1

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 9.56 TTN MYH7 LDB3 DES
2 stress fiber GO:0001725 9.5 TPM1 MYH7 LDB3
3 striated muscle thin filament GO:0005865 9.37 TTN TNNT2
4 sarcomere GO:0030017 9.35 TPM1 TNNT2 MYH7 MYBPC3 ACTC1
5 myosin filament GO:0032982 9.33 MYH7B MYH7 MYBPC3
6 cardiac myofibril GO:0097512 8.92 TNNT2 MYH7B MYBPC3 DES

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 RBM20 PKP2 NKX2-5 MIB1 LDB3
2 muscle contraction GO:0006936 9.72 TTN TPM1 TNNT2 MYH7 DES
3 positive regulation of ATPase activity GO:0032781 9.65 TPM1 TNNT2 MYBPC3
4 regulation of heart contraction GO:0008016 9.63 TPM1 TNNT2 DES
5 striated muscle contraction GO:0006941 9.58 TTN MYH7 DTNA
6 regulation of muscle contraction GO:0006937 9.56 TPM1 TNNT2
7 sarcomere organization GO:0045214 9.56 TTN TPM1 TNNT2 LDB3
8 positive regulation of sodium ion transport GO:0010765 9.55 PKP2 NKX2-5
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 TPM1 TNNT2 PKP2 MYH7 MYBPC3
10 adult heart development GO:0007512 9.54 NKX2-5 MYH7
11 cardiac muscle tissue morphogenesis GO:0055008 9.54 TTN NKX2-5 ACTC1
12 cardiac myofibril assembly GO:0055003 9.52 TTN ACTC1
13 ventricular cardiac muscle cell development GO:0055015 9.51 NKX2-5 LMNA
14 cardiac muscle contraction GO:0060048 9.5 TTN TPM1 TNNT2 NKX2-5 MYH7 MYBPC3
15 skeletal muscle thin filament assembly GO:0030240 9.49 TTN ACTC1
16 muscle filament sliding GO:0030049 9.17 TTN TPM1 TNNT2 MYH7 MYBPC3 DES

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.91 TTN TPM1 TNNT2 MYBPC3 LMNA DES
2 actin filament binding GO:0051015 9.46 TTN TPM1 MYH7B MYH7
3 cytoskeletal protein binding GO:0008092 9.43 TPM1 LDB3 DES
4 muscle alpha-actinin binding GO:0051371 9.32 TTN LDB3
5 structural constituent of muscle GO:0008307 9.13 TTN TPM1 MYBPC3
6 actin binding GO:0003779 9.1 TPM1 TNNT2 MYH7B MYH7 MYBPC3 LDB3

Sources for Left Ventricular Noncompaction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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