LVHT
MCID: LFT003
MIFTS: 55

Left Ventricular Noncompaction (LVHT)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Left Ventricular Noncompaction

MalaCards integrated aliases for Left Ventricular Noncompaction:

Name: Left Ventricular Noncompaction 11 19 42 58 28 5 14 71 33
Noncompaction Cardiomyopathy 42 5 71 75 33
Left Ventricular Hypertrabeculation 11 19 42 58
Isolated Noncompaction of the Ventricular Myocardium 42 5 16
Spongy Myocardium 19 42 58
Lvnc 19 42 58
Left Ventricular Myocardial Noncompaction Cardiomyopathy 42 71
Non-Compaction of the Left Ventricular Myocardium 42
Left Ventricular Non-Compaction 42
Ventricular Noncompaction, Left 38
Non-Compaction Cardiomyopathy 16
Hypertrabeculation Syndrome 42
Honeycomb Myocardium 42
Fetal Myocardium 42
Lvht 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive 58

Age Of Onset:

All ages 58

Classifications:



External Ids:

Disease Ontology 11 DOID:0060480
ICD10 via Orphanet 32 I42.8
UMLS via Orphanet 72 C1960469
Orphanet 58 ORPHA54260
ICD11 33 226977635
UMLS 71 C1839832 C1960469 C3164472

Summaries for Left Ventricular Noncompaction

MedlinePlus Genetics: 42 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 noncompaction cardiomyopathy, is related to cardiomyopathy, dilated, 1e 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 conduction and Cytoskeletal Signaling. Affiliated tissues include heart, kidney and skeletal muscle, and related phenotypes are homeostasis/metabolism and muscle

GARD: 19 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.

Orphanet: 58 A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

Disease Ontology: 11 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.

Wikipedia: 75 Noncompaction cardiomyopathy (NCC) is a rare congenital disease of heart muscle that affects both... 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 516)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 33.8 TTN-AS1 TTN TPM1 SCN5A PKP2 MYH7
2 left ventricular noncompaction 2 33.4 TTN-AS1 TTN LVNC2
3 barth syndrome 33.0 TTN TNNT2 MYH7 MYBPC3 LMNA LDB3
4 dilated cardiomyopathy 32.4 TTN-AS1 TTN TPM1 TNNT2 SCN5A PLEKHM2
5 hypertrophic cardiomyopathy 32.3 TTN-AS1 TTN TPM1 TNNT2 SCN5A PKP2
6 cardiomyopathy, familial hypertrophic, 1 32.2 TTN TPM1 TNNT2 SCN5A NKX2-5 MYH7B
7 cardiac conduction defect 32.1 SCN5A MYH7 MYBPC3 LMNA
8 neuromuscular disease 31.9 TTN-AS1 TTN MYH7 LMNA LDB3 DTNA
9 ebstein anomaly 31.9 TTN TPM1 SCN5A NKX2-5 MYH7 MYBPC3
10 atrial standstill 1 31.9 SCN5A PKP2 MYH7 MYBPC3 LMNA LAMP2
11 heart septal defect 31.9 TNNT2 NKX2-5 MYH7 ACTC1
12 myopathy 31.9 TTN-AS1 TTN TPM1 TNNT2 MYH7 LMNA
13 congestive heart failure 31.9 TTN TNNT2 SCN5A MYH7 MYBPC3
14 heart disease 31.7 TTN TNNT2 SCN5A PKP2 NKX2-5 MYH7
15 aortic valve disease 2 31.7 TTN TNNT2 NKX2-5 MYH7 MYBPC3
16 atrial heart septal defect 31.7 TTN TNNT2 SCN5A NKX2-5 MYH7 MYBPC3
17 left bundle branch hemiblock 31.7 TTN TNNT2 SCN5A PKP2 MYBPC3 LMNA
18 mitral valve insufficiency 31.7 TTN TNNT2 MYH7 MYBPC3
19 patent ductus arteriosus 1 31.6 TTN TNNT2 NKX2-5 MYH7 MYBPC3 ACTC1
20 atrioventricular block 31.6 TNNT2 SCN5A NKX2-5 LMNA
21 muscular dystrophy 31.6 TTN-AS1 TTN TNNT2 MYH7 LMNA LDB3
22 lipoprotein quantitative trait locus 31.6 TTN TNNT2 SCN5A PKP2 NKX2-5 MYH7
23 syncope 31.5 TNNT2 SCN5A
24 brugada syndrome 31.5 TTN TPM1 TNNT2 SCN5A PKP2 NKX2-5
25 long qt syndrome 31.5 TTN TNNT2 SCN5A PKP2 NKX2-5 MYH7
26 cardiac arrest 31.4 TNNT2 SCN5A MYH7
27 peripartum cardiomyopathy 31.4 TTN MYH7 MYBPC3
28 wolff-parkinson-white syndrome 31.4 TTN-AS1 TTN TNNT2 SCN5A NKX2-5 MYH7
29 ventricular fibrillation, paroxysmal familial, 1 31.4 TNNT2 SCN5A
30 sick sinus syndrome 31.4 TTN SCN5A LMNA
31 tetralogy of fallot 31.4 TTN TPM1 TNNT2 SCN5A NKX2-5 MYH7
32 restrictive cardiomyopathy 31.4 TTN-AS1 TTN TPM1 TNNT2 SCN5A PKP2
33 myocarditis 31.4 TTN TNNT2 MYH7 LMNA
34 catecholaminergic polymorphic ventricular tachycardia 31.3 TTN TNNT2 SCN5A PKP2 MYH7 MYBPC3
35 right bundle branch block 31.3 TNNT2 SCN5A PKP2
36 third-degree atrioventricular block 31.3 TTN-AS1 TTN SCN5A NKX2-5 LMNA
37 endocardial fibroelastosis 31.3 NKX2-5 MYH7 LDB3 ACTC1
38 cardiomyopathy, dilated, 1dd 31.2 TTN TNNT2 LDB3
39 patent foramen ovale 31.2 TTN TNNT2 SCN5A NKX2-5 MYH7 MYBPC3
40 heart valve disease 31.2 TTN TNNT2 NKX2-5 MYH7 MYBPC3
41 emery-dreifuss muscular dystrophy 31.2 TTN LMNA LDB3
42 cardiomyopathy, familial hypertrophic, 4 31.1 TTN TPM1 MYH7 MYBPC3
43 myofibrillar myopathy 31.1 TTN MYH7 MYBPC3 LMNA LDB3
44 chromosome 1p36 deletion syndrome 31.1 PRDM16 NKX2-5 MYBPC3
45 endomyocardial fibrosis 31.1 MYH7 MYBPC3 ACTC1
46 cardiomyopathy, dilated, 1g 31.1 TTN-AS1 TTN LMNA
47 muscular dystrophy, limb-girdle, autosomal recessive 10 31.0 TTN-AS1 TTN
48 rasopathy 31.0 TTN TPM1 TNNT2 SCN5A PKP2 NKX2-5
49 orthostatic intolerance 31.0 TTN-AS1 TTN NKX2-5
50 familial woolly hair syndrome 31.0 TTN SCN5A PKP2 LMNA

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 ACTC1 LAMP2 LDB3 LMNA MIB1 MIPEP
2 muscle MP:0005369 10.13 ACTC1 DTNA LAMP2 LDB3 LMNA MYBPC3
3 normal MP:0002873 10.07 ACTC1 LMNA MIB1 MYH7 NKX2-5 PRDM16
4 growth/size/body region MP:0005378 10 ACTC1 DTNA LAMP2 LDB3 LMNA MIB1
5 cardiovascular system MP:0005385 9.86 ACTC1 DTNA LAMP2 LDB3 LMNA MIB1
6 mortality/aging MP:0010768 9.53 ACTC1 DTNA LAMP2 LDB3 LMNA MIB1

Drugs & Therapeutics for Left Ventricular Noncompaction

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Unknown status NCT03572569
2 DZHK TranslatiOnal Registry for CardiomyopatHies Deutsches Zentrum für Herz- Und Kreislauf-Forschung (DZHK) Unknown status NCT02187263
3 Metabolomic Study of Patients With Cardiomyopathy in China Unknown status NCT03061994
4 An Integrative-omics Study to Identify New Biomarkers of Cardiomyopathy Patients in China Unknown status NCT03076580
5 Prognosis of Isolated Left Ventricular Non-compaction in Adults Unknown status NCT02885363
6 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014
7 Value of Different Myocardial Parameters to Differentiate Left Ventricular Noncompaction Cardiomyopathy From Other Cardiomyopathies and Healthy Controls by Cardiac Magnetic Resonance Completed NCT01481298
8 Increased Left Ventricular Trabeculation in Athletes - a Marker of Left Ventricular Non-compaction or a Physiological Epiphenomenon of Increased Cardiac Preload? Completed NCT02568072
9 Cardiac Magnetic Resonance Features and Outcomes of Patients With Non-Compaction Cardiomyopathy - a Retrospective Follow-up From Pakistan Completed NCT05281315
10 TranslatiOnal Registry for CardiomyopatHies (TORCH) - Plus as Part of the German Centre for Cardiovascular Research (DZHK) Recruiting NCT04265040
11 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
12 International Consortium for Multimodality Phenotyping in Adults With Non-compaction Recruiting NCT04424030
13 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 Active, not recruiting NCT04316923
14 The Genetics of Cardiomyopathy and Heart Failure Withdrawn NCT00703443

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 28

Anatomical Context for Left Ventricular Noncompaction

Organs/tissues related to Left Ventricular Noncompaction:

MalaCards : Heart, Kidney, Skeletal Muscle, Cardiac Myocytes, Smooth Muscle, Bone Marrow, Thyroid

Publications for Left Ventricular Noncompaction

Articles related to Left Ventricular Noncompaction:

(show top 50) (show all 2137)
# Title Authors PMID Year
1
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 62 5
27799064 2016
2
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 62 5
24691700 2015
3
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. 62 5
23956225 2013
4
Interpreting secondary cardiac disease variants in an exome cohort. 62 5
23861362 2013
5
Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy. 62 5
22859017 2013
6
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 62 5
21551322 2011
7
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. 62 5
21127202 2011
8
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. 62 5
20031619 2009
9
Mutations in sarcomere protein genes in left ventricular noncompaction. 62 5
18506004 2008
10
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. 5
33547425 2021
11
Genetic testing for dilated cardiomyopathy in clinical practice. 5
22464770 2012
12
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 5
21310275 2011
13
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 5
18258667 2008
14
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. 5
18159245 2007
15
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). 5
10972294 2000
16
The Electrocardiogram in the Diagnosis and Management of Patients With Left Ventricular Non-Compaction. 62
36227527 2022
17
Left ventricular noncompaction: a disease or a phenotypic trait? 62
35820566 2022
18
Prognostic value of cardiac magnetic resonance imaging parameters in left ventricular noncompaction with left ventricular dysfunction. 62
36474142 2022
19
Echocardiography features of non-compaction cardiomyopathy. 62
36088258 2022
20
Coronary conductance in the normal development of sheep during the perinatal period. 62
36461657 2022
21
Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies. 62
35994197 2022
22
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder. 62
36426740 2022
23
Left ventricular non-compaction in paediatrics: a novel semi-automated imaging technique bridging imaging findings and clinical outcomes. 62
36441164 2022
24
Left ventricular non-compaction cardiomyopathy: a rare cause of stroke. 62
36404113 2022
25
Renal dysfunction and outcome in left ventricular non-compaction. 62
36385602 2022
26
Peripartum anesthetic management in patients with left ventricular noncompaction: a case series and review of the literature. 62
35905687 2022
27
Biventricular Assist Device Support for Intractable Arrhythmias From Histiocytoid Cardiomyopathy. 62
35439193 2022
28
MRI-derived cardiac washout is slowed in the left ventricle and associated with left ventricular non-compaction in young patients with cryptogenic ischemic stroke. 62
36434329 2022
29
The outcome of peripartum cardiomyopathy patients-single center experience. 62
36447302 2022
30
Dilated Cardiomyopathy in Children: Early Detection and Treatment. 62
36475220 2022
31
[Cardiac MRI in nonischemic cardiomyopathies]. 62
36129478 2022
32
Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve. 62
36325906 2022
33
Predictors of fatal arrhythmic events in patients with non-compaction cardiomyopathy: a systematic review. 62
35776368 2022
34
Genetic Basis of Childhood Cardiomyopathy. 62
36252119 2022
35
Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation. 62
36221081 2022
36
An Unusual Presentation of Left Ventricular Non-compaction Cardiomyopathy in a Female Patient With Sudden Cardiac Arrest: A Case Report. 62
36451648 2022
37
Isolated Left Ventricular Noncompaction Presenting With Heart Failure With Reduced Ejection Fraction and Intrahospital Cardiac Arrest: A Case Report and Literature Review. 62
36415422 2022
38
Prognostic Value of Late Gadolinium Enhancement in Left Ventricular Noncompaction: A Multicenter Study. 62
36292149 2022
39
The use of 2-D speckle tracking echocardiography in assessing adolescent athletes with left ventricular hypertrabeculation meeting the criteria for left ventricular non-compaction cardiomyopathy. 62
36216087 2022
40
Left ventricular non-compaction cardiomyopathy: restrictive subtype with MYH7 gene mutation. 62
36217801 2022
41
Left ventricular non-compaction with normal myocardial perfusion. 62
33386538 2022
42
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. 62
36253531 2022
43
Biventricular biaxial mechanical testing and constitutive modelling of fetal porcine myocardium passive stiffness. 62
35932646 2022
44
Effects of elevated bile acid levels on fetal myocardium in intrahepatic cholestasis of pregnancy, a retrospective study from a neonatal perspective. 62
36044978 2022
45
Aortic root replacement for aortic root aneurysm with severe aortic regurgitation and incidentally detected left ventricular hyper-trabeculation/noncompaction. 62
36050986 2022
46
Characteristics and long-term survival of patients with left ventricular non-compaction cardiomyopathy. 62
36111517 2022
47
Biventricular non-compaction cardiomyopathy: Rare disease and far rarer case. 62
36082796 2022
48
Spatial uniformity of action potentials indicates base-to-apex depolarization and repolarization of rainbow trout (Oncorhynchus mykiss) ventricle. 62
35950359 2022
49
Prognostic factors associated with left ventricular non-compaction: A PRISMA-compliant meta-analysis. 62
36123904 2022
50
Left Ventricular Non-compaction in a 40-Year-Old Male With Congenital Hydrocephalus. 62
36312646 2022

Variations for Left Ventricular Noncompaction

ClinVar genetic disease variations for Left Ventricular Noncompaction:

5 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) SNV Pathogenic
208631 rs114638163 GRCh37: 13:24380133-24380133
GRCh38: 13:23805994-23805994
2 overlap with 8 genes GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 CN LOSS Pathogenic
208634 GRCh37: 13:23519916-24941516
GRCh38:
3 LAMP2 NM_002294.3(LAMP2):c.668dup (p.Tyr223Ter) DUP Pathogenic
1065183 GRCh37: X:119581768-119581769
GRCh38: X:120447913-120447914
4 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic
523473 rs1554093433 GRCh37: 5:172659836-172659836
GRCh38: 5:173232833-173232833
5 TTN NM_001267550.2(TTN):c.20836+1G>A SNV Pathogenic
523428 rs1553915256 GRCh37: 2:179590094-179590094
GRCh38: 2:178725367-178725367
6 TTN-AS1, TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) DEL Pathogenic
523430 rs1553707780 GRCh37: 2:179481655-179481655
GRCh38: 2:178616928-178616928
7 MYBPC3 NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) DUP Pathogenic
177698 rs730880336 GRCh37: 11:47367806-47367810
GRCh38: 11:47346254-47346255
8 MYBPC3 NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) DEL Pathogenic
254153 rs886037900 GRCh37: 11:47364434-47364434
GRCh38: 11:47342883-47342883
9 MYH7 NM_000257.4(MYH7):c.732+1G>A SNV Pathogenic
14127 rs730880850 GRCh37: 14:23900793-23900793
GRCh38: 14:23431584-23431584
10 MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) SNV Pathogenic
42822 rs397516089 GRCh37: 14:23899016-23899016
GRCh38: 14:23429807-23429807
11 MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) SNV Pathogenic
164378 rs727503269 GRCh37: 14:23898538-23898538
GRCh38: 14:23429329-23429329
12 MYH7 NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) SNV Pathogenic
181327 rs730880856 GRCh37: 14:23900163-23900163
GRCh38: 14:23430954-23430954
13 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>A SNV Pathogenic
155808 rs587782958 GRCh37: 11:47355103-47355103
GRCh38: 11:47333552-47333552
14 MYBPC3 NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) DEL Pathogenic
164021 rs727503166 GRCh37: 11:47353661-47353661
GRCh38: 11:47332110-47332110
15 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic
36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
16 LOC110121269, SCN5A NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) SNV Risk Factor
9393 rs7626962 GRCh37: 3:38620907-38620907
GRCh38: 3:38579416-38579416
17 MYBPC3 NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) SNV Likely Pathogenic
177902 rs573916965 GRCh37: 11:47367848-47367848
GRCh38: 11:47346297-47346297
18 LMNA NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) SNV Likely Pathogenic
48045 rs201583907 GRCh37: 1:156106982-156106982
GRCh38: 1:156137191-156137191
19 SLC30A5 NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs) DEL Likely Pathogenic
976212 rs1746359403 GRCh37: 5:68411799-68411803
GRCh38: 5:69115972-69115976
20 MYH7 NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) DEL Likely Pathogenic
42968 rs397516190 GRCh37: 14:23889120-23889122
GRCh38: 14:23419911-23419913
21 MYH7 NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) SNV Likely Pathogenic
164299 rs727503249 GRCh37: 14:23888797-23888797
GRCh38: 14:23419588-23419588
22 GJD2-DT, ACTC1 NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) SNV Likely Pathogenic
45190 rs397517071 GRCh37: 15:35084293-35084293
GRCh38: 15:34792092-34792092
23 MYH7 NM_000257.4(MYH7):c.732+2T>G SNV Likely Pathogenic
454395 rs1555338658 GRCh37: 14:23900792-23900792
GRCh38: 14:23431583-23431583
24 MYH7 NM_000257.4(MYH7):c.1000-1G>A SNV Likely Pathogenic
637005 rs113392527 GRCh37: 14:23899123-23899123
GRCh38: 14:23429914-23429914
25 SLC30A5 NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs) DEL Likely Pathogenic
988899 rs1746589361 GRCh37: 5:68419234-68419235
GRCh38: 5:69123407-69123408
26 DTNA NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) SNV Likely Pathogenic
374197 rs1057518968 GRCh37: 18:32374029-32374029
GRCh38: 18:34794065-34794065
27 LDB3 NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala) SNV Uncertain Significance
967764 rs1589674758 GRCh37: 10:88476203-88476203
GRCh38: 10:86716446-86716446
28 MYH6 NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) SNV Uncertain Significance
44482 rs376002621 GRCh37: 14:23859615-23859615
GRCh38: 14:23390406-23390406
29 DSP NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) SNV Uncertain Significance
642389 rs1581813405 GRCh37: 6:7578028-7578028
GRCh38: 6:7577795-7577795
30 PKP2 NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys) SNV Uncertain Significance
684846 rs769943903 GRCh37: 12:32974425-32974425
GRCh38: 12:32821491-32821491
31 MYH7 NM_000257.4(MYH7):c.803T>G (p.Leu268Arg) SNV Uncertain Significance
684854 rs1555338582 GRCh37: 14:23900202-23900202
GRCh38: 14:23430993-23430993
32 MIPEP NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) SNV Uncertain Significance
208630 rs143912947 GRCh37: 13:24443458-24443458
GRCh38: 13:23869319-23869319
33 MIPEP NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) SNV Uncertain Significance
208629 rs1057518740 GRCh37: 13:24460623-24460623
GRCh38: 13:23886484-23886484
34 MIPEP NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) SNV Uncertain Significance
208632 rs1057518741 GRCh37: 13:24436467-24436467
GRCh38: 13:23862328-23862328
35 MIPEP NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) SNV Uncertain Significance
208628 rs1057518739 GRCh37: 13:24380192-24380192
GRCh38: 13:23806053-23806053
36 TAFAZZIN NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) DUP Uncertain Significance
446166 rs1557194203 GRCh37: X:153648583-153648584
GRCh38: X:154420244-154420245
37 MIPEP NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) SNV Uncertain Significance
208633 rs779598020 GRCh37: 13:24411700-24411700
GRCh38: 13:23837561-23837561
38 RYR2 NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) SNV Uncertain Significance
488158 rs1553325274 GRCh37: 1:237951371-237951371
GRCh38: 1:237788071-237788071
39 RYR2 NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) SNV Uncertain Significance
165128 rs571985775 GRCh37: 1:237949299-237949299
GRCh38: 1:237785999-237785999
40 ANKRD1 NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln) SNV Uncertain Significance
520516 rs367609929 GRCh37: 10:92675343-92675343
GRCh38: 10:90915586-90915586
41 JUP NM_002230.4(JUP):c.2105G>A (p.Arg702His) SNV Uncertain Significance
178849 rs200690479 GRCh37: 17:39912129-39912129
GRCh38: 17:41755877-41755877
42 PKP2 NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) SNV Uncertain Significance
403313 rs200947767 GRCh37: 12:32949098-32949098
GRCh38: 12:32796164-32796164
43 BAG3 NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) SNV Uncertain Significance
179009 rs201638005 GRCh37: 10:121431912-121431912
GRCh38: 10:119672400-119672400
44 TGFB3 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) SNV Uncertain Significance
192131 rs142047577 GRCh37: 14:76446944-76446944
GRCh38: 14:75980601-75980601
45 TPM1 NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) SNV Uncertain Significance
178148 rs371934474 GRCh37: 15:63356287-63356287
GRCh38: 15:63064088-63064088
46 JUP NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) SNV Uncertain Significance
468745 rs376051686 GRCh37: 17:39915113-39915113
GRCh38: 17:41758861-41758861
47 MYBPC3 NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=) SNV Uncertain Significance
407331 rs786204348 GRCh37: 11:47360162-47360162
GRCh38: 11:47338611-47338611
48 MYH7 NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) SNV Uncertain Significance
42941 rs145532615 GRCh37: 14:23892910-23892910
GRCh38: 14:23423701-23423701
49 MYH6 NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) SNV Uncertain Significance
470523 rs745801044 GRCh37: 14:23859585-23859585
GRCh38: 14:23390376-23390376
50 TTN-AS1, TTN NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) SNV Uncertain Significance
511503 rs182422055 GRCh37: 2:179414298-179414298
GRCh38: 2:178549571-178549571

Expression for Left Ventricular Noncompaction

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

Pathways for Left Ventricular Noncompaction

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 9.86 TTN SCN5A MYH7 LDB3
2 stress fiber GO:0001725 9.85 TPM1 MYH7 LDB3
3 myosin filament GO:0032982 9.55 MYH7B MYH7 MYBPC3
4 striated muscle thin filament GO:0005865 9.5 TTN TNNT2
5 cardiac myofibril GO:0097512 9.35 TNNT2 MYH7B MYBPC3
6 sarcomere GO:0030017 9.32 TPM1 TNNT2 MYH7 MYBPC3 ACTC1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 10.03 MYH7 TNNT2 TPM1 TTN
2 positive regulation of ATP-dependent activity GO:0032781 9.93 TPM1 TNNT2 MYBPC3
3 striated muscle contraction GO:0006941 9.88 TTN MYH7 DTNA
4 positive regulation of sodium ion transport GO:0010765 9.85 SCN5A PKP2 NKX2-5
5 sarcomere organization GO:0045214 9.85 TTN TPM1 TNNT2 MYH7 LDB3
6 cardiac myofibril assembly GO:0055003 9.81 TTN ACTC1
7 ventricular cardiac muscle cell development GO:0055015 9.8 NKX2-5 LMNA
8 cardiac muscle tissue morphogenesis GO:0055008 9.8 ACTC1 NKX2-5 TTN
9 skeletal muscle thin filament assembly GO:0030240 9.78 TTN ACTC1
10 muscle filament sliding GO:0030049 9.73 TPM1 TNNT2 MYH7
11 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.65 MYBPC3 MYH7 PKP2 TNNT2 TPM1
12 cardiac muscle contraction GO:0060048 9.47 TTN TPM1 TNNT2 SCN5A NKX2-5 MYH7

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 9.65 TPM1 TNNT2 MYH7B MYH7 MYBPC3 LDB3
2 structural constituent of muscle GO:0008307 9.63 TTN TPM1 MYBPC3
3 microfilament motor activity GO:0000146 9.17 TNNT2 MYH7B MYH7 ACTC1

Sources for Left Ventricular Noncompaction

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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