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Gene: Lamp2 MGI:96748

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

lysosomal-associated membrane protein 2

Synonyms:

Mac3, Lamp-2a, Lamp-2b, CD107b, Lamp-2c, Lamp-2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lamp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lamp2 (2 diseases)
Human diseases predicted to be associated with Lamp2 (945 diseases)

The table below shows human diseases associated to Lamp2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Danon Disease		Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Glycogen Storage Disease Due To Lamp-2 Deficiency		Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587

The table below shows human diseases predicted to be associated to Lamp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat...	ORPHA:171445
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit...	OMIM:310300
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl...	OMIM:617336
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Rig...	OMIM:115197
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat...	OMIM:300376
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology	ORPHA:111
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes...	ORPHA:98909
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:606685
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w...	ORPHA:98912
Cardiac Lipidosis, Familial	Death in infancy, Cardiomyopathy, Congestive heart failure	OMIM:212080
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated...	ORPHA:57777
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine,...	OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert...	OMIM:540000
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Leg muscle stiffness, Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhyth...	ORPHA:320360
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal upper limb amyotrophy, Di...	OMIM:614065
Cardiomyopathy, Dilated, 1Ff	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613286
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Hyper...	OMIM:212138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
D-2-Hydroxyglutaric Aciduria 2	D-2-hydroxyglutaric acidemia, Cardiomyopathy	OMIM:613657
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98855
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve...	OMIM:601005
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98853
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Abnormal m...	OMIM:618378
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase ...	OMIM:609500
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Ethanolaminosis	Cardiomegaly, Death in infancy	OMIM:227150
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,...	OMIM:302045
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc...	ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc...	OMIM:255100
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat...	OMIM:615418
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Death in infancy	OMIM:615395
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:301075
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo...	ORPHA:26793
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular...	OMIM:619566
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia...	OMIM:614654
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E...	ORPHA:98911
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Third degree atrioventricular block, Ragged-red muscle fibers	ORPHA:480
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ...	ORPHA:399103
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Elevated circulating creatine kinase c...	OMIM:613156
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Re...	ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc...	OMIM:609308
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 2C	Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in childhood, Death in ...	OMIM:618189
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Tangier Disease	Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat...	OMIM:205400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular...	OMIM:619167
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy, Hypertension, Flexio...	OMIM:616733
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Hyperammonemia, Arrhythmia, Hepatomegaly	ORPHA:35
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Death in childhood, Cardiomyopathy	OMIM:619651
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Increased ci...	OMIM:620734
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,...	ORPHA:308552
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ...	OMIM:617713
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ...	ORPHA:392
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Limb-gird...	OMIM:615352
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen...	ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Hyperalaninemia, Death in infancy	OMIM:616974
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear...	OMIM:602390
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Cardiomyopathy, Myofibrillar myopathy, Elevated circulating creatine kina...	OMIM:609452
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Im...	OMIM:614407
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Decreased circulating carnitine concentration	OMIM:611283
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat...	OMIM:613752
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Arrhythmia, He...	OMIM:606069
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ...	OMIM:616827
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Familial Hyperaldosteronism Type Iii	Epistaxis, Hypokalemia, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrh...	ORPHA:251274
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k...	OMIM:600649
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Congestive heart failure	OMIM:615440
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Diabet...	OMIM:530000
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Ventricular fibrillation, Prolonged PR interval, Palpi...	ORPHA:358
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hypoglycemia, Congestive heart failure...	OMIM:619355
Developmental And Epileptic Encephalopathy 35	Death in infancy, Cardiomyopathy	OMIM:616647
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure	ORPHA:2022
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird...	ORPHA:263494
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ...	ORPHA:137675
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Hy...	ORPHA:746
Glycogen Storage Disease Iii	Ventricular hypertrophy, Distal amyotrophy, Cardiomyopathy, Hypoglycemia, Hyperlipidemia, Myopath...	OMIM:232400
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric...	OMIM:613507
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce...	ORPHA:276556
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypoglycemic seizures, Hypertrophic ca...	ORPHA:276580
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Death in infancy, Neonatal death	OMIM:617184
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Splenomegaly, Death in infancy, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Hemochromatosis, Type 2B	Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir...	OMIM:613313
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type...	OMIM:619903
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Type I diabetes mellitus, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Hyperinsulinemia, P...	ORPHA:276575
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur...	OMIM:310200
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc...	OMIM:613155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage	ORPHA:335
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Second degree atrioventricular block, Ventricular septal defect, Overriding aort...	OMIM:617021
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ...	OMIM:616516
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro...	OMIM:212140
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Arrhythmia	OMIM:618453
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula...	OMIM:301500
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy, Death in childhood, Elevated circulating creati...	OMIM:613153
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Flexion contr...	OMIM:618815
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf...	ORPHA:98896
Fabry Disease	Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper...	ORPHA:324
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne...	ORPHA:329336
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Facial hypotonia, First degree atrioventricular block, Abnormal cardiac sept...	ORPHA:589821
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal death, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia	OMIM:619003
Leber Hereditary Optic Neuropathy	Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly	OMIM:607685
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir...	OMIM:235200
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:79159
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defec...	ORPHA:371428
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ...	OMIM:253700
Atrial Fibrillation, Familial, 15	Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde...	OMIM:615770
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy...	OMIM:612954
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Myopathy, Neonatal death	OMIM:618237
Myotonic Dystrophy 1	Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Atrial flutter	OMIM:160900
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Type II diabetes mellitus	ORPHA:99725
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ...	ORPHA:169186
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoke...	ORPHA:228305
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Death in infancy, Bra...	OMIM:618235
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Myopathy, Cardiomyopathy	ORPHA:26792
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb ...	OMIM:266500
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Nonketotic hyperglycinemia	ORPHA:401866
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal...	OMIM:300580
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Tricuspid regurgitation, Death in infancy, Hepatomegaly, Pulmonary in...	OMIM:619433
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Death in infancy, Bradycardia	OMIM:616277
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradyca...	OMIM:614702
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Death in childhood	OMIM:618683
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Insulin resistance, Dilated cardiomyopathy, Skeletal muscle atr...	ORPHA:273
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr...	ORPHA:119
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Cardiomyopathy	OMIM:615119
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu...	OMIM:201475
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Death in childhood, Death in infancy, Reduced systolic function, Ebstein ...	OMIM:619492
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype...	ORPHA:75249
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentrat...	OMIM:615084
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy	OMIM:618236
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Apparent Mineralocorticoid Excess	Hypokalemia, Left ventricular hypertrophy, Hypertension, Decreased circulating renin level	ORPHA:320
Dystonia 23	Arrhythmia, Torticollis	OMIM:614860
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy, Elevated circulating ...	OMIM:613158
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in childhood, Death in infancy, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertens...	OMIM:619064
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis, Hypersarcosinemia	ORPHA:3129
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Hyperalaninemia	OMIM:615917
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Death in infancy	OMIM:618229
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra...	ORPHA:439232
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, Hy...	OMIM:620609
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch...	ORPHA:99013
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Death in childhood, Hepatomegaly, Increased serum pyru...	OMIM:246900
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Decreased mitochondrial number, Multiple joint contractures, Myopathy	ORPHA:352470
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Transient hyperli...	ORPHA:156
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi...	ORPHA:353
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar...	ORPHA:1194
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Death in childhood	OMIM:618321
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com...	OMIM:500013
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe...	OMIM:249270
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit...	OMIM:602541
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycinemia, Hyperamylasemia, Death in infancy, El...	OMIM:619386
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Death in infancy, Arrhythmia, Flexio...	ORPHA:157973
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Decreased circulating carnitine con...	ORPHA:2394
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy	ORPHA:67048
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	ORPHA:324588
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Second degree atrioventricular block, Abnormal ...	ORPHA:79102
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral regurgitat...	ORPHA:230851
Infantile Sialic Acid Storage Disease	Congestive heart failure, Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Conjugate...	OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Death in infancy, Hyperprolinemia, Hyperalaninemia, Increased serum...	OMIM:619046
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase ...	ORPHA:352447
Autosomal Recessive Progressive External Ophthalmoplegia	Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, E...	ORPHA:254886
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Hypo...	ORPHA:324575
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro...	ORPHA:228410
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal...	ORPHA:565612
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,...	OMIM:620300
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m...	OMIM:252011
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Diabetes mellitus, Atrial septal defect	OMIM:615981
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch...	ORPHA:365
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert...	OMIM:619698
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Reduced haptoglobin level, Elevated circula...	OMIM:300842
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Ca...	OMIM:619051
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Cardiomyopathy, Death in infancy, Neonatal death, Elevated circulating creatine kin...	OMIM:618839
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepa...	OMIM:232500
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hypoglycemia, Hyperammonemia, Myopathy, Elevated circulating creatine ki...	ORPHA:42
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, Diabetes...	OMIM:609286
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Hemochromatosis, Type 3	Elevated transferrin saturation, Increased circulating iron concentration, Cardiomyopathy, Increa...	OMIM:604250
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine...	OMIM:615959
Infantile Refsum Disease	Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhythmia, Hepatomegaly, Facia...	ORPHA:772
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Elevated circulating creati...	ORPHA:368
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Cardiomyopathy	ORPHA:93476
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Lower limb hypertonia, Hepatosplenomegaly, Pericardial effusion, Portal hyperten...	OMIM:619487
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Increased circulating ferritin concentration, Abnormality of iron homeost...	ORPHA:79230
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri...	OMIM:616564
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Rhabdomyolysis, ...	OMIM:618120
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Polyarteritis Nodosa	Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert...	ORPHA:767
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Sengers Syndrome	Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Cardiac arrest, Sudden ca...	OMIM:212350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia, Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Alg1-Cdg	Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia	ORPHA:79327
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, Elevated circulating...	OMIM:618835
Glycogen Storage Disease Due To Aldolase A Deficiency	Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ...	ORPHA:57
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:618499
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre...	ORPHA:228308
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Decreased...	ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Car...	OMIM:255120
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Achalasia, Myoc...	ORPHA:3386
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase c...	OMIM:620326
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt	OMIM:620510
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy...	OMIM:619170
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Type II diabetes mellitus, Arrhythmia, Subvalvular aort...	ORPHA:3191
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur...	OMIM:609015
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M...	OMIM:604377
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Elevated circulating...	OMIM:607155
Nephronophthisis 16	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Enlarged kidney, Pulm...	OMIM:615382
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef...	OMIM:620067
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral...	ORPHA:581
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hypertrophic cardiomyopathy, Deat...	OMIM:611126
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	OMIM:606703
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia, Cardiomyopathy	OMIM:616483
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f...	OMIM:258450
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce...	ORPHA:3287
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy, Diabetes mellitus	ORPHA:96
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Death in infancy, Cardiomegaly, Cerebral hemorrhage...	OMIM:618886
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Hyperalaninemia, Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:324525
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:256550
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,...	OMIM:620152
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia	OMIM:618805
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Hydrops Fetalis	Abnormal heart morphology, Arrhythmia, Pericardial effusion, Capillary leak, Miscarriage	ORPHA:1041
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes...	ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Death in infancy, Neo...	OMIM:620167
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Autosomal Dominant Optic Atrophy Plus Syndrome	Myopathy, Limb-girdle muscle weakness, Cardiomyopathy, Diabetes mellitus	ORPHA:1215
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hepatomegaly, Hyperlipidemia, Hypoglycemia	ORPHA:369
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Death in early adulthood, Myopathy, Elevated c...	ORPHA:682
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent...	OMIM:619573
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale, Hyperalaninemia, Hepatomegaly	OMIM:614582
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Al Amyloidosis	Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia...	ORPHA:85443
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation	OMIM:617168
Frontotemporal Dementia With Motor Neuron Disease	Generalized amyotrophy, Abnormal mitochondrial morphology	ORPHA:275872
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Hyperammonemia, Splenomegaly, Cardiomyopathy	ORPHA:79312
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat...	ORPHA:71212
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Elevated circulating ...	OMIM:242840
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong...	ORPHA:85446
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co...	ORPHA:88630
Mitochondrial Complex I Deficiency, Nuclear Type 29	Mitochondrial swelling, Hypertrophic cardiomyopathy, Abnormal heart morphology, Palpitations, Dec...	OMIM:618250
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Refsum Disease	Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block	ORPHA:773
Scimitar Syndrome	Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea...	ORPHA:185
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia	ORPHA:230839
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv...	ORPHA:70591
Peroxisome Biogenesis Disorder 9B	Elevated circulating phytanic acid concentration, Cardiomyopathy	OMIM:614879
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninemia,...	ORPHA:254913
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Telangiectasia, Telangiectasia of the skin, Hepatomegaly, Generalize...	ORPHA:79279
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Liddle Syndrome	Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Hyperalaninemia, Skeletal muscle atrophy	OMIM:616896
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Death in childhood, Myopathy, Neonatal death, Death in infancy, Stillbirth, Hepat...	OMIM:614922
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Hypoglycemia, Torsade de pointes, Hypertrophic ...	OMIM:616878
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Increased circulating ferritin concentration, Endocardial fibroelasto...	OMIM:619313
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic ...	ORPHA:280365
Rheumatic Fever	Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val...	ORPHA:3099
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Chromosome 13Q33-Q34 Deletion Syndrome	Camptodactyly, Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis	OMIM:619148
Amyloidosis, Finnish Type	Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy	OMIM:105120
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte...	OMIM:208000
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Cardiomyopathy, Dilatation o...	ORPHA:363623
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Skeletal muscle autophagos...	OMIM:619518
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:544469
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Hypoglycemia, Rhabdomyolysis, Ventricular s...	OMIM:614921
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy...	ORPHA:2348
Acquired Generalized Lipodystrophy	Insulin resistance, Cardiomyopathy, Abnormal circulating lipid concentration, Insulin-resistant d...	ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I, Skeletal muscle at...	OMIM:615578
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Elevated circulatin...	ORPHA:93672
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Hepat...	ORPHA:367
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure	OMIM:619259
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Dilated cardiomyopathy	OMIM:231530
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Cardiomyopathy	ORPHA:27
Leptospirosis	Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Hepatomegaly, Arrhythmia, First degree atriove...	ORPHA:509
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Congenital Generalized Lipodystrophy	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hype...	ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elbow flexion contracture, Eleva...	OMIM:608836
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre...	ORPHA:157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Glucose intolerance, Limb muscle weakness, Elevated circulating creatine ki...	OMIM:610131
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal...	ORPHA:2847
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Hyperoxaluria, Intermittent claudication, Raynaud phe...	OMIM:259900
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Insulin insensitivity, Palpitations, Type II diabetes mellitus, E...	OMIM:602668
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase conc...	OMIM:618775
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy, Hyperammonemia, Death in infancy	OMIM:611719
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia	OMIM:616949
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ...	ORPHA:98908
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Elevated circulating creatine kinase concentration, Mildly reduced left ventricular e...	OMIM:618098
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:617063
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Hypotaurinemia, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Elevated circulating...	ORPHA:370959
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra...	ORPHA:158687
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Diabetes mellitus, Congestive heart failure	OMIM:229300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Death in infancy, Hepatomegaly	OMIM:614299
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:2928
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Glucose intolerance, Mitral regurgitation, Patent foramen ovale, Death i...	OMIM:619127
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Congenital Disorder Of Glycosylation, Type Iig	Camptodactyly, Left ventricular hypertrophy	OMIM:611209
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia, Hypoglycemia	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:620646
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, H...	ORPHA:401923
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Death in early adult...	OMIM:605676
Propionic Acidemia	Cardiomyopathy, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Limb hypert...	OMIM:606054
Singleton-Merten Syndrome 2	Aortic valve stenosis, Arrhythmia, Aortic valve calcification	OMIM:616298
Bardet-Biedl Syndrome 1	Insulin resistance, Left ventricular hypertrophy, Hypertension, Diabetes mellitus	OMIM:209900
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest	ORPHA:99745
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ...	OMIM:607598
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Cardiomyopathy, Abnormal circulating hom...	ORPHA:88618
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, S...	OMIM:615415
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr...	ORPHA:542323
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Hepatomegal...	OMIM:251000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Limb hypertonia, Generalized amyotrophy	OMIM:617710
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Hepatorenocardiac Degenerative Fibrosis	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Enlarged kidney	OMIM:619902
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Death in infancy, Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Neonatal death	OMIM:618810
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Beta-Thalassemia	Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis	ORPHA:848
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypoglycemia, De...	OMIM:610768
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Roifman Syndrome	Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Hepatomegaly	OMIM:616651
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperphosphatemia, Lower limb muscle weakness, Hypocalce...	ORPHA:99845
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Arrhythmia, Myocardial infarction	ORPHA:54057
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia	ORPHA:5
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis	OMIM:611553
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona...	ORPHA:500
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f...	OMIM:615895
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Mitral regurgitation, H...	OMIM:220111
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Familial Isolated Hypoparathyroidism	Arrhythmia, Hypocalcemia, Myopathy	ORPHA:2238
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia, Death in infancy	ORPHA:168593
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Rhabdomyolysis	OMIM:188580
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricu...	ORPHA:31150
Alg3-Cdg	Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy	ORPHA:79321
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur...	ORPHA:100080
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Shoulder girdle muscle weakness, Abnormal circulating creatine kinase concentrati...	ORPHA:98907
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Splenomegaly, Myopathy, Elevated circulating creatine kinase concentration, Incre...	OMIM:610717
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Subvalvular aortic stenosis	OMIM:600430
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature	OMIM:201470
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Hypokalem...	ORPHA:31824
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio...	ORPHA:258
Erythrokeratodermia Variabilis Et Progressiva 6	Arrhythmia	OMIM:618531
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Hyperammonemia, Death in childhood, Neonatal death, Arrhythmia, Hype...	OMIM:614052
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve...	OMIM:142900
Systemic Capillary Leak Syndrome	Myocarditis, Hypotension, Arrhythmia, Pericarditis	ORPHA:188
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Death in childhood, Cardiomegaly, Orthostatic hypote...	OMIM:268800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H...	ORPHA:466677
Neutrophilic Dermatosis, Acute Febrile	Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Small vessel vascu...	OMIM:608068
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Skeletal muscle atr...	ORPHA:17
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis, Pericardial effusion	ORPHA:292
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatosplenomegaly, Hip contracture	ORPHA:353298
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Tric...	OMIM:620306
Cranioectodermal Dysplasia 2	Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial sept...	OMIM:613610
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect	OMIM:616897
Double Outlet Left Ventricle	Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ...	ORPHA:3427
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:619053
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate...	ORPHA:97214
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentration, Punct...	ORPHA:247691
Vici Syndrome	Death in infancy, Cardiomyopathy	ORPHA:1493
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Hepatomegaly, Atrial septal defect	ORPHA:1842
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Hypoglycemic seizures, Hypoglycemia, Abnormal E...	ORPHA:480864
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperlipidemia, Mitral regurgitation, Ventricular septal defect, Arrhythmia...	ORPHA:254346
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Ogden Syndrome	Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect	ORPHA:276432
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy	ORPHA:496790
Legionnaires Disease	Hypotension, Splenomegaly, Hyponatremia, Arrhythmia, Myocarditis, Endocarditis, Pericarditis	ORPHA:549
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Hemolytic ane...	OMIM:603903
Wolfram Syndrome 1	Diabetes mellitus, Cardiomyopathy	OMIM:222300
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L...	ORPHA:284984
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy	OMIM:105210
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Melas	Type I diabetes mellitus, Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiom...	ORPHA:550
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Cardiomyopathy, Severely reduced left ...	OMIM:252600
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Abnormal heart morphology, Death in infancy, Neonatal death, Bicuspid ao...	OMIM:612289
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Hyperoxaluria, Intermittent claudication, Raynaud phenomenon,...	ORPHA:416
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Hypoglycemia, Splenomegaly, Elevated circulating creatin...	ORPHA:264580
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Death in childhood, Ventricular septal defect	OMIM:612938
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscl...	OMIM:607426
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hyperammo...	OMIM:615471
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Death in ch...	OMIM:617303
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ...	ORPHA:758
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Hurler Syndrome	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto...	ORPHA:93473
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellit...	ORPHA:769
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Hep...	ORPHA:354
Leber Optic Atrophy	Arrhythmia, Myopathy	OMIM:535000
Agel Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Facial palsy, Cardiomyopathy	ORPHA:85448
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hype...	OMIM:251110
Pulmonary Arteriovenous Malformation	Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,...	ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Mitochondrial swelling	OMIM:615595
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia	OMIM:619121
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive...	ORPHA:231226
Von Hippel-Lindau Disease	Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Arrh...	ORPHA:892
Costello Syndrome	Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal...	ORPHA:3071
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Cardiomyopathy, Hypocholesterolemia, Death in childhood, Death in infancy, Hepat...	OMIM:212065
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypertrophic cardiomyopathy, Hepatomegaly, Flexion contracture, Atrial septal defect	OMIM:619383
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ...	ORPHA:251071
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Hypertrophic cardiomyopathy, Death in childhood, Weakness of facial musculature, Incr...	OMIM:220110
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Vasculitis, Splenomegaly, Cardiomyopathy	OMIM:225750
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:3201
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Cardiomyopathy	ORPHA:445038
Friedreich Ataxia	Diabetes mellitus, Cardiomyopathy, Hand muscle atrophy	ORPHA:95
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis	OMIM:613706
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid r...	ORPHA:505248
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly,...	OMIM:602782
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Macroglossia	ORPHA:412217
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Mitral regu...	OMIM:607014
Beta-Thalassemia Major	Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive...	ORPHA:231214
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Hyperalaninemia, Hypoglycemia, Hypoalbuminemia	OMIM:618329
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar...	ORPHA:727
Familial Glucocorticoid Deficiency	Hypotension, Hypertrophic cardiomyopathy, Hyponatremia, Ketotic hypoglycemia, Hypoglycemic seizur...	ORPHA:361
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Familial Multiple Nevi Flammei	Arrhythmia, Pulmonary embolism, Intracranial hemorrhage	ORPHA:624
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Cardiomyopathy	OMIM:203300
Mucopolysaccharidosis, Type Vi	Macroglossia, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, M...	OMIM:253200
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Subar...	OMIM:613795
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia	ORPHA:2131
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Ragged-red m...	ORPHA:255210
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Maturity-onset diabetes of the young, Elbow flexion con...	ORPHA:96149
Usher Syndrome	Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy	ORPHA:886
Meacham Syndrome	Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly...	OMIM:608978
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Macroglossia, Congestive heart failure...	OMIM:252500
Isolated Complex I Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Increased serum pyruvate, Diabetes melli...	ORPHA:2609
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:610733
Cartilage-Hair Hypoplasia	Cardiomyopathy, Hypocalcemia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal card...	ORPHA:175
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hypertrophi...	ORPHA:309854
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hypertrophic cardiomyopathy, Hepatomegaly, Glycosuria, Skeletal muscle steatosis	ORPHA:436271
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptog...	OMIM:613673
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Hepatomegaly, Mac...	OMIM:253220
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc...	ORPHA:94093
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:579
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh...	ORPHA:100078
Hypocalcemic Vitamin D-Dependent Rickets	Cardiomyopathy, Splenomegaly, Hypocalcemia, Hypophosphatemia, Hepatomegaly, Hypocalcemic seizures	ORPHA:289157
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Arrhythmia, Atrial septal defect, Patent foramen ovale	OMIM:619184
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo...	ORPHA:91387
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir...	ORPHA:14
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy	ORPHA:572798
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Hyperbilirubinemia	ORPHA:822
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Giant Cell Arteritis	Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:397
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Abnormal cardiac septum morphology, Cardiomyopathy	OMIM:217980
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Friedreich Ataxia 2	Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro...	OMIM:601992
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo...	OMIM:619745
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Hypomagnesemia, Congestive heart failure, Hypocalcemic tetany, Hypocalcem...	ORPHA:73224
Fumarase Deficiency	Decreased fumarate hydratase activity, Perimembranous ventricular septal defect, Mitochondrial sw...	OMIM:606812
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Increased serum pyruvate	OMIM:618222
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa	ORPHA:79280
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy	OMIM:616084
Mucopolysaccharidosis Type 2	Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve...	ORPHA:580
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Pagod Syndrome	Hypoplastic left heart, Situs inversus totalis, Congenital diaphragmatic hernia, Death in infancy...	ORPHA:991
Fucosidosis	Hepatomegaly, Cardiomegaly, Decreased muscle mass	ORPHA:349
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy, Elevated hemoglobin A1c, Glucose intolerance, Glycosuria	OMIM:616539
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr...	OMIM:605275
Mucopolysaccharidosis Type 2, Severe Form	Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatospl...	ORPHA:217085
Tyrosinemia, Type I	Hypermethioninemia, Gastrointestinal hemorrhage, Hypoglycemia, Hypertrophic cardiomyopathy, Hypop...	OMIM:276700
Gm1 Gangliosidosis Type 1	Macroglossia, Hepatosplenomegaly, Cardiomyopathy	ORPHA:79255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia	ORPHA:60040
Mgat2-Cdg	Abnormal heart morphology, Arrhythmia, Reflex asystolic syncope, Ventricular septal defect	ORPHA:79329
Mucopolysaccharidosis Type 2, Attenuated Form	Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatospl...	ORPHA:217093
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Congestive heart failure, Decreased HDL cholesterol concentration, Campt...	OMIM:256040
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertrophic cardi...	OMIM:252010
Postinfectious Vasculitis	Bacterial endocarditis, Cardiomyopathy, Cerebral vasculitis, Elevated haptoglobin level, Ischemic...	ORPHA:48435
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Pearson Syndrome	Glycosuria, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Cardiac conduction abnorma...	ORPHA:699
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Wolfram Syndrome	Gastrointestinal hemorrhage, Myopathy, Diabetes mellitus, Cardiomyopathy	ORPHA:3463
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Hypoglycemia, Splenomegaly, Congeni...	ORPHA:373
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia	ORPHA:261494
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Generalized muscular appearance from birth, Hyperinsulinemia, Splenomegaly, Hyper...	OMIM:608594
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d...	ORPHA:3138
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Arrhythmia, Ventricular septal defect	OMIM:153400
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly, Arthrogryposis mult...	OMIM:608013
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy	OMIM:615398
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia, Diabetes mellitus, Camptodactyly of finger	ORPHA:3220
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Suprav...	ORPHA:391665
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal d...	ORPHA:2331
Localized Scleroderma	Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture	ORPHA:90289
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Congenital diaphragmatic hernia, Death in childhood, Hypoplasia of the d...	OMIM:614437
Lipodystrophy, Congenital Generalized, Type 2	Generalized muscular appearance from birth, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type I...	OMIM:269700
Bohring-Opitz Syndrome	Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp...	ORPHA:97297
Alg9-Cdg	Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Ventricular se...	ORPHA:79328
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Phakomatosis Pigmentokeratotica	Arrhythmia, Hypophosphatemic rickets, Raynaud phenomenon, Rhabdomyosarcoma	ORPHA:2874
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ...	ORPHA:99827
Leigh Syndrome	Skeletal muscle atrophy, Hypoglycemia, Congestive heart failure, Hypertrophic cardiomyopathy, Mul...	ORPHA:506
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger	ORPHA:261211
Castleman Disease	Elevated circulating C-reactive protein concentration, Restrictive cardiomyopathy	ORPHA:160
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Hyperbilirubine...	OMIM:300855
Noonan Syndrome	Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas...	ORPHA:648
Carney Triad	Gastrointestinal hemorrhage, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertension	ORPHA:139411
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Botulism	Arrhythmia	ORPHA:1267
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestive heart failure	ORPHA:508542
Toriello-Carey Syndrome	Tetralogy of Fallot, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis	ORPHA:3338
Foodborne Botulism	Arrhythmia	ORPHA:228371
Autosomal Dominant Hypocalcemia	Hypotension, Hyperphosphatemia, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Arrhythmia	ORPHA:428
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat...	OMIM:615846
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Ragged-red musc...	OMIM:124000
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy	ORPHA:79430
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto...	ORPHA:900
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Hypertrophic cardiomyopa...	ORPHA:508
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger	ORPHA:2135
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Lymphedema-Distichiasis Syndrome	Arrhythmia, Diabetes mellitus	ORPHA:33001
Dermatomyositis	Vasculitis, Sinus tachycardia, Inflammatory myopathy, EMG: myopathic abnormalities, Elevated circ...	ORPHA:221
Oculodentodigital Dysplasia	Hypoglycemia, Arrhythmia, Camptodactyly of finger, Ventricular septal defect	ORPHA:2710
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Subdural hemorrhage, Cardiomyopathy, Splenomegaly, Hepatomegaly, Retinal...	ORPHA:90324
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio...	ORPHA:2556
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Hypertriglyceridemia...	ORPHA:369837
Trichothiodystrophy	Multiple joint contractures, Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi...	ORPHA:51
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten...	ORPHA:1340
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa...	OMIM:619991
Holoprosencephaly	Hypoglycemia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Congenital diaphragmatic ...	ORPHA:2162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Arrhythmia, Arthrogryposis multiplex congenita, Splenomegaly	ORPHA:163746
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Fucosidosis	Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy	OMIM:230000
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia...	OMIM:620371
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Unco...	OMIM:618278
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protein concentra...	OMIM:620376
Oculodentodigital Dysplasia	Arrhythmia, Joint contracture of the 5th finger, Atrial septal defect	OMIM:164200
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenit...	ORPHA:116
Familial Mediterranean Fever	Vasculitis, Splenomegaly, Arrhythmia, Myocardial infarction, Pericarditis	ORPHA:342
Costello Syndrome	Hypoglycemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrh...	OMIM:218040
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Myopathy, Ele...	ORPHA:800
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Atrial septal defect	OMIM:600268
Zimmermann-Laband Syndrome 1	Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:135500
Ivic Syndrome	Arrhythmia	ORPHA:2307
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363958
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Arrhythmia, Atrial septal defect, Ventricular septal defect	ORPHA:1519
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly, Hepatomega...	ORPHA:96191
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy...	OMIM:182250
Williams Syndrome	Death in early adulthood, Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse,...	ORPHA:904
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ...	ORPHA:3472
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Splenomegaly, Congenita...	OMIM:312870
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Myocar...	ORPHA:51608
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrial septal defect	OMIM:250220
Bardet-Biedl Syndrome	Insulin resistance, Skeletal muscle atrophy, Cardiomyopathy, Decreased HDL cholesterol concentrat...	ORPHA:110
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Splenomegaly, Elevated circula...	OMIM:270400
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Wiskott-Aldrich Syndrome	Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis...	ORPHA:906
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Facial palsy	ORPHA:1328
Cockayne Syndrome B	Splenomegaly, Death in childhood, Arrhythmia, Hepatomegaly, Hypertension	OMIM:133540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
Cockayne Syndrome A	Splenomegaly, Hip contracture, Arrhythmia, Hepatomegaly, Hypertension	OMIM:216400
Plague	Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Tachycardia, Endocarditis	ORPHA:707
Acromegaly	Hypertrophic cardiomyopathy, Mitral regurgitation, Macroglossia, Hypertension, Diabetes mellitus	ORPHA:963
Somatomammotropinoma	Hypertrophic cardiomyopathy, Mitral regurgitation, Macroglossia, Hypertension, Diabetes mellitus	ORPHA:314769
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Dia...	ORPHA:96334
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Viss Syndrome	Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep...	OMIM:619472
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent foramen ovale, Ventr...	OMIM:607872
Stickler Syndrome	Macroglossia, Arrhythmia, Skeletal muscle atrophy, Mitral valve prolapse	ORPHA:828
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:163950
Hypermobile Ehlers-Danlos Syndrome	Epistaxis, Mitral valve prolapse, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculatur...	ORPHA:285
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Pulmonary arterial hype...	ORPHA:97685
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy	ORPHA:480880
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a...	OMIM:216340
Pmm2-Cdg	Hypoalbuminemia, Insulin resistance, Hypertrophic cardiomyopathy, Hyperinsulinemia, Multiple join...	ORPHA:79318
Pallister-Killian Syndrome	Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Hypertrophic cardiomyopathy, Congenital ...	OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lamp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lamp2.

No publications found that use IMPC mice or data for Lamp2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Lamp2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lamp2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lamp2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lamp2^{tm43606(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lamp2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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