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Gene: Mylk3 MGI:2443063

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myosin light chain kinase 3

Synonyms:

D830007F02Rik

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 Mylk3 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 Mylk3 (0 diseases)
Human diseases predicted to be associated with Mylk3 (620 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mylk3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
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
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
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
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ...	OMIM:253700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
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
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi...	ORPHA:353
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Rig...	OMIM:115197
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric...	OMIM:613507
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ...	ORPHA:206559
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert...	OMIM:540000
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu...	ORPHA:324604
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w...	ORPHA:98912
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep...	OMIM:619048
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes...	ORPHA:98909
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Aorto-Ventricular Tunnel	Abnormal heart valve morphology, Heart murmur, Ventricular hypertrophy, Congestive heart failure	ORPHA:3400
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	ORPHA:324588
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat...	OMIM:602390
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ...	OMIM:314400
Bronchopulmonary Dysplasia	Right ventricular failure, Right ventricular hypertrophy	ORPHA:70589
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:796
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia	OMIM:614654
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit...	OMIM:310300
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur...	OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture	OMIM:616733
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo...	OMIM:613156
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Congestive heart failure	OMIM:613313
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage	ORPHA:335
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Adams-Oliver Syndrome 5	Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri...	OMIM:616028
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Splenomegaly, Pulmonary arterial hypertension,...	ORPHA:2414
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ...	ORPHA:169186
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Congestive heart failure	OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular...	OMIM:619167
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy	OMIM:613158
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure	OMIM:269920
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Generalized amyotrophy, Lower limb hypertonia, Lower limb muscle weakness, Abnormal EKG	ORPHA:1177
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
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	OMIM:606703
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Microcephaly-Capillary Malformation Syndrome	Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:614261
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture	ORPHA:157973
Tangier Disease	Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo...	OMIM:205400
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
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 Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular sept...	OMIM:613404
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Right ventricular hypertrophy	ORPHA:217563
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar...	ORPHA:1194
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten...	ORPHA:251274
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,...	OMIM:235200
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Meckel Syndrome, Type 7	Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Atrial se...	OMIM:267010
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd...	OMIM:607554
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest	OMIM:617713
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Morbid Obesity And Spermatogenic Failure	Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co...	ORPHA:423461
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly, Pericarditis, Congestive heart failure	ORPHA:163596
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Atransferrinemia	Congestive heart failure	OMIM:209300
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c...	OMIM:208085
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Achalasia, Myoc...	ORPHA:3386
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Facial hypotonia, Atrial septal defect, Decreased muscle mass, Congestive heart failure	ORPHA:500533
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong...	ORPHA:85446
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141179
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,...	ORPHA:308552
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Stuve-Wiedemann Syndrome 2	Camptodactyly, Pulmonary arterial hypertension, Congestive heart failure	OMIM:619751
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val...	ORPHA:90308
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141184
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula...	OMIM:301500
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon...	ORPHA:98915
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Scimitar Syndrome	Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea...	ORPHA:185
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Hepatosplenomegaly, Ab...	ORPHA:367
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Postural hypote...	ORPHA:85443
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia...	OMIM:620294
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi...	ORPHA:746
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert...	OMIM:619698
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Babesiosis	Hepatomegaly, Splenomegaly, Myocardial infarction, Congestive heart failure	ORPHA:108
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Facial hypotonia, First degree atrioventricular block, Abnormal cardiac sept...	ORPHA:589821
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension	ORPHA:320
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Dextrocardia	Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia	ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral regurgitat...	ORPHA:230851
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure	OMIM:619259
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90037
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Hepatomegaly, Abno...	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Hepatomegaly, Abno...	ORPHA:79083
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Maternal Uniparental Disomy Of Chromosome X	Flexion contracture, Camptodactyly of finger, Congestive heart failure	ORPHA:261519
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri...	OMIM:616564
Congenital Sialidosis Type 2	Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Hepatomegaly	ORPHA:93400
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia	OMIM:609015
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal...	ORPHA:465508
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell...	ORPHA:99901
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal...	ORPHA:565612
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Heart murmur, Bacterial endocarditis, Congestive heart failure	ORPHA:1054
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear...	OMIM:620646
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona...	ORPHA:500
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt	OMIM:620510
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Hepatomegaly	ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation	OMIM:617168
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Ragged-red muscle fibers, Lower limb muscle weakness, Skeletal muscle ...	OMIM:616479
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha...	ORPHA:26791
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom...	OMIM:201475
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:256550
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Dietary Iron Overload Disease	Abnormal heart morphology, Hepatomegaly, Congestive heart failure	ORPHA:139507
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou...	ORPHA:2326
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Left ventricular hy...	OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Skeletal muscl...	ORPHA:528
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Congestive heart failure, Abnormal heart morphology, Cerebral ischemia, High-output co...	ORPHA:137667
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul...	OMIM:602668
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Supraventricular tachycardia, Hi...	ORPHA:423
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,...	ORPHA:99050
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90033
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske...	ORPHA:682
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe...	ORPHA:93672
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Congestive heart failure	OMIM:176670
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove...	OMIM:265380
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Hepa...	OMIM:309900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ...	ORPHA:98908
Double Outlet Left Ventricle	Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ...	ORPHA:3427
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure	ORPHA:67
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi...	OMIM:615351
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar...	ORPHA:727
Graves Disease	Congestive heart failure	OMIM:275000
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Sple...	ORPHA:280365
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Marbach-Rustad Progeroid Syndrome	Ventricular septal hypertrophy, Pulmonary insufficiency, Right bundle branch block	OMIM:619322
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch...	ORPHA:365
Acquired Idiopathic Sideroblastic Anemia	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:75564
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
Alpha-Thalassemia	Pericardial effusion, Hepatosplenomegaly, Splenomegaly, Congestive heart failure	ORPHA:846
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Hepatomegaly, Atrial fib...	ORPHA:525731
Chromosome 13Q33-Q34 Deletion Syndrome	Camptodactyly, Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis	OMIM:619148
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Hep...	ORPHA:354
Congenital Disorder Of Glycosylation, Type Iig	Camptodactyly, Left ventricular hypertrophy	OMIM:611209
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Posterolateral diaphragmatic hernia, Right ventricular hypertrophy...	OMIM:613177
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra...	ORPHA:158687
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia	ORPHA:31824
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Ray...	ORPHA:91139
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial septal defect, Hepato...	OMIM:617303
Tangier Disease	Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis	ORPHA:31150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f...	OMIM:615895
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Brugada Syndrome 4	Atrial fibrillation, Syncope, Shortened QT interval	OMIM:611876
Aarskog-Scott Syndrome	Camptodactyly of finger, Congestive heart failure	ORPHA:915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy	OMIM:610131
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Congestive heart failure	OMIM:123700
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:579
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Patent foramen ovale, Pulmonary arterial hypertension, A...	ORPHA:280633
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, M...	ORPHA:363618
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Abnormal EKG, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities	ORPHA:480864
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abn...	ORPHA:505248
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, P...	OMIM:608779
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp...	ORPHA:220393
Rett Syndrome	Skeletal muscle atrophy, Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Mus...	ORPHA:1900
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atrial enlargement, Pulm...	OMIM:614008
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect	OMIM:616897
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure	OMIM:166210
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Camptodactyly, Right bundle branch block, Mitral regurgitation	OMIM:619576
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype...	OMIM:242840
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG	ORPHA:230
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,...	OMIM:268800
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Pericarditis	ORPHA:231111
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Facial palsy, Right ...	OMIM:620186
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	ORPHA:73224
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Tetrasomy 5P	Heart murmur, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculatu...	ORPHA:3309
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly	OMIM:603903
Bardet-Biedl Syndrome 1	Left ventricular hypertrophy, Hypertension	OMIM:209900
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Diasta...	OMIM:252500
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hepatosplenomegaly, Myopathy, Hepatomegaly...	ORPHA:85450
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestive heart failure	ORPHA:508542
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Splenomegaly, Hepat...	ORPHA:33226
Erdheim-Chester Disease	Abnormal pericardium morphology, Abnormal aortic valve morphology, Congestive heart failure	ORPHA:35687
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h...	ORPHA:444072
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged ...	ORPHA:66634
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Noonan Syndrome	Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas...	ORPHA:648
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ...	OMIM:231050
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy	OMIM:105210
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Limb hypertonia	OMIM:620306
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ...	ORPHA:99827
Refsum Disease	Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block	ORPHA:773
Autosomal Recessive Cutis Laxa Type 1	Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Supravalvular aortic...	ORPHA:90349
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy...	OMIM:619127
Werner Syndrome	Skeletal muscle atrophy, Congestive heart failure, Telangiectasia of the skin, Hypertension, Myoc...	ORPHA:902
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Splenomegaly, Myopathy, Congestive heart failure	OMIM:615512
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar...	ORPHA:1830
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,...	OMIM:608328
Leigh Syndrome	Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co...	ORPHA:506
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Avian Influenza	Rhabdomyolysis, Congestive heart failure	ORPHA:454836
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp...	OMIM:602782
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia	ORPHA:2131
Shwachman-Diamond Syndrome 1	Hepatomegaly, Myocardial necrosis	OMIM:260400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c...	OMIM:608836
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr...	ORPHA:3260
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Splenomegaly, Congenita...	OMIM:312870
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo...	ORPHA:91387
Cranioectodermal Dysplasia 2	Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg...	OMIM:613610
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Abetalipoproteinemia	Congestive heart failure, Myopathy, Cardiomegaly, Distal lower limb muscle weakness, Hepatomegaly	ORPHA:14
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment...	ORPHA:358
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive...	ORPHA:231226
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Hypertrophic cardiomyopathy, Rhabdomyolysis, Ventricular tachycardia, Ventric...	OMIM:616878
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa	ORPHA:79280
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Congestive heart failure	OMIM:616271
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Splenomegaly, Congenital diaphragma...	ORPHA:373
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616482
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Beta-Thalassemia Major	Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive...	ORPHA:231214
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol...	OMIM:170390
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L...	ORPHA:284984
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Trichorhinophalangeal Syndrome, Type Ii	Bicuspid aortic valve, Myocardial infarction, Scapular winging, Partial anomalous pulmonary venou...	OMIM:150230
Aceruloplasminemia	Torticollis, Congestive heart failure	ORPHA:48818
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Bicuspid aortic valve, Left ve...	OMIM:220111
Viss Syndrome	Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep...	OMIM:619472
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac...	OMIM:256040
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Congestive heart failure	ORPHA:428
Hamamy Syndrome	Atrial septal defect, Prolonged QRS complex, Complete atrioventricular canal defect, Mitral regur...	OMIM:611174
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi...	OMIM:617022
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,...	ORPHA:90068
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Hepatosplenomegaly, Patent foramen ovale, Pulmonary arterial hypertensi...	ORPHA:391487
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hyper...	OMIM:612289
Alstrom Syndrome	Hepatomegaly, Dilated cardiomyopathy, Hypertension, Congestive heart failure	OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy	ORPHA:71212
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Decreased muscle mass, Congestive heart failu...	OMIM:154700
Distal Deletion 12Q	Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale	ORPHA:96149
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Mitral valve prolapse, ...	OMIM:617402
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Listeriosis	Arteritis, Congestive heart failure, Rhabdomyolysis, Myocarditis, Endocarditis, Pericarditis	ORPHA:533
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy...	ORPHA:91347
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy...	OMIM:182250
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Splenomegaly, High-output congestive heart failure, Pulmonary arterial hypert...	ORPHA:231222
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure	OMIM:181270
Fucosidosis	Cardiomegaly, Hepatomegaly, Decreased muscle mass	ORPHA:349
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def...	ORPHA:444077
Diamond-Blackfan Anemia 1	Congestive heart failure, Ventricular septal defect, Atrial septal defect, Small thenar eminence,...	OMIM:105650
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Incontinentia Pigmenti	Congestive heart failure, Camptodactyly of finger, Cerebral ischemia, Telangiectasia of the skin,...	ORPHA:464
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral...	ORPHA:581
Marfan Syndrome	Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Mi...	ORPHA:558
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Subar...	OMIM:613795
Primary Sclerosing Cholangitis	Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Hepatosplenomegaly, Portal hy...	ORPHA:171
Bohring-Opitz Syndrome	Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp...	ORPHA:97297
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S...	ORPHA:79102
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm...	ORPHA:466650
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea...	ORPHA:774
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Dilatation of the ventricular cavity, Mitral regurgitation, Congestive hear...	ORPHA:90348
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula...	OMIM:300855
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic...	ORPHA:904
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block	ORPHA:416
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Congestive heart fail...	ORPHA:79474
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Ventricular septal defect, Bicuspid aortic valve,...	OMIM:619475
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro...	ORPHA:273
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Arterial rupture, Gastrointestinal hemorrhage, Congestive heart failure	OMIM:225400
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Gitelman Syndrome	Hypotension, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval	OMIM:263800
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia...	OMIM:620371
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Fucosidosis	Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy	OMIM:230000
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi...	ORPHA:51
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Flexion contracture, Pulmonary arterial hypertension, Camptodactyly	OMIM:620029
Parkes Weber Syndrome	Lower limb muscle weakness, High-output congestive heart failure, Bounding pulse, Subarachnoid he...	ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis	OMIM:620376
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Macroglossia, Ventricular septal defect	ORPHA:96191
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ...	ORPHA:3472
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Myocar...	ORPHA:51608
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat...	ORPHA:116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe...	OMIM:619991
Carney Complex	Cardiac myxoma, Hypertension, Congestive heart failure	ORPHA:1359
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem...	ORPHA:1772
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Dpagt1-Cdg	Hepatomegaly, Camptodactyly, Prolonged QT interval, Intracranial hemorrhage, Flexion contracture	ORPHA:86309
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis	ORPHA:79444
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension, Calcinosis	ORPHA:79443
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:99413
Turner Syndrome	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:881
Mosaic Monosomy X	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:99226
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Alström Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Portal hypertension, Spleno...	ORPHA:64
Multiple Endocrine Neoplasia Type 1	Hypertension, Hematemesis, Shortened QT interval, Melena	ORPHA:652

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 Mylk3

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 Mylk3.

No publications found that use IMPC mice or data for Mylk3.

Order Mouse and ES Cells

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
Mylk3^{tm82944(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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