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Gene: Myl2 MGI:97272

Gene Summary

Name:

myosin, light polypeptide 2, regulatory, cardiac, slow

Synonyms:

MLC-2v, MLC-2, Gm32672, Mylpc, Mlc2v

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
absent vibrissae	Myl2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	9.25×10^-05
increased total body fat amount	Myl2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.42×10^-05
decreased mean corpuscular volume	Myl2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.05×10^-06
decreased circulating alkaline phosphatase level	Myl2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.07×10^-06
preweaning lethality, complete penetrance	Myl2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.000238

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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 Myl2 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 Myl2 (3 diseases)
Human diseases predicted to be associated with Myl2 (612 diseases)

The table below shows human diseases associated to Myl2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Flexion contracture, C...	ORPHA:2020

The table below shows human diseases predicted to be associated to Myl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Ethanolaminosis	Cardiomegaly	OMIM:227150
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Microphthalmia, Syndromic 9	Severe short stature, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, ...	OMIM:601186
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers	OMIM:616794
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Paten...	ORPHA:185
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac...	OMIM:616866
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy...	OMIM:300842
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac...	ORPHA:3386
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly	OMIM:610717
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se...	ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Flexion contracture, Mild intrauterine growth retardation, Stillbirth, Abnormal ca...	OMIM:308050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ...	ORPHA:2348
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal...	ORPHA:90308
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ...	ORPHA:79083
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly	OMIM:619751
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Atransferrinemia	Congestive heart failure	OMIM:209300
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Meckel Syndrome 14	Occipital encephalocele, Single ventricle	OMIM:619879
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage	OMIM:300845
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am...	ORPHA:66634
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis...	ORPHA:26791
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG...	OMIM:615418
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Babesiosis	Splenomegaly, Congestive heart failure, Myocardial infarction, Hepatomegaly	ORPHA:108
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con...	ORPHA:137667
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red...	ORPHA:254892
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Dietary Iron Overload Disease	Hepatomegaly, Congestive heart failure, Abnormal heart morphology	ORPHA:139507
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly	OMIM:203800
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, Dilated cardio...	ORPHA:231226
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas...	ORPHA:354
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90037
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Atrial s...	OMIM:617303
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ...	ORPHA:231214
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure	ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat...	OMIM:610505
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,...	OMIM:242840
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Holoprosencephaly 1	Short stature, Single ventricle	OMIM:236100
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa...	OMIM:601808
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, S...	OMIM:608779
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger	ORPHA:915
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Lim...	ORPHA:1900
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve...	OMIM:231050
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli...	ORPHA:3260
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia	ORPHA:90033
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy	OMIM:616541
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture	ORPHA:89842
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy...	ORPHA:369840
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat...	ORPHA:525731
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp...	ORPHA:220393
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy...	OMIM:615688
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio...	OMIM:619573
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Tetrasomy 5P	Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria...	ORPHA:3309
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Erdheim-Chester Disease	Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology	ORPHA:35687
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten...	ORPHA:85450
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Anemia, Leukopenia, Premature graying of hair, Increased mean corpuscu...	OMIM:127550
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Holoprosencephaly 2	Single ventricle	OMIM:157170
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail...	ORPHA:902
Avian Influenza	Congestive heart failure, Rhabdomyolysis	ORPHA:454836
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch...	ORPHA:1830
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Triosephosphate Isomerase Deficiency	Splenomegaly, Congestive heart failure, Myopathy, Skeletal muscle atrophy	OMIM:615512
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas...	ORPHA:33226
Neurocardiofaciodigital Syndrome	Short stature, Patent ductus arteriosus, Double inlet left ventricle, Atrial septal defect, Tetra...	OMIM:619869
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Flexion contracture	OMIM:616271
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo...	ORPHA:79086
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Abnormal cardiac ventricular function, Dilatation of the ventricular ca...	ORPHA:90349
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Listeriosis	Pericarditis, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, Arteritis	ORPHA:533
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Renovascular hypertension, Hepatosplenomegaly, Pulmonary arterial hyper...	ORPHA:391487
Aceruloplasminemia	Congestive heart failure, Torticollis	ORPHA:48818
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Macroglossia, Pul...	ORPHA:444077
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Telangiectasia,...	ORPHA:1606
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure	OMIM:181270
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Sickle Cell Disease	Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Choreoacanthocytosis	Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Myopathy, Distal amy...	ORPHA:2388
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Beta-Thalassemia Intermedia	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a...	ORPHA:231222
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Dilatation of the ventricul...	ORPHA:90348
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Marfan Syndrome	Congestive heart failure, Mitral valve calcification, Skeletal muscle atrophy, Mitral valve prolapse	ORPHA:558
Primary Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hep...	ORPHA:171
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Atypical Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Aortic valve calci...	ORPHA:79474
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h...	OMIM:619475
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, He...	ORPHA:3385
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture	OMIM:225400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal...	OMIM:243800
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Lower limb muscle ...	ORPHA:90307
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Carney Complex	Hypertension, Cardiac myxoma, Congestive heart failure	ORPHA:1359
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Alström Syndrome	Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy...	ORPHA:64
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Flexion contracture, C...	ORPHA:2020

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 Myl2

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 Myl2.

No publications found that use IMPC mice or data for Myl2.

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
Myl2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Myl2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Myl2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Myl2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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