Gene Summary

Name:
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Synonyms:
Mtpb,  4930479F15Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
decreased lean body mass Hadhbem1(IMPC)Bay HET Early adult 2.82×10-06
preweaning lethality, incomplete penetrance Hadhbem1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Hadhb 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Hypoketotic hypoglycemia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regur... ORPHA:746
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Rhabdomyolysis, Cholestasis,... OMIM:609015

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

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:615395
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Hypertension, Hypertriglyceridemia, ... OMIM:613877
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614582
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Supraventricular arrhythmia, Distal lower limb muscle weakness, Diabetes me... ORPHA:320360
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Endocardial fibroelastosis, Hepati... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, Failure to thrive, Myop... OMIM:618234
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Hypertensi... ORPHA:280356
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscl... ORPHA:399103
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Intrauterine growth retardation, Myop... ORPHA:26792
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertension, Myocardial infarction,... OMIM:615703
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia, Scapuloperoneal myopathy, Scapular winging, Flexion contracture, Lower limb muscle we... OMIM:300695
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Neonatal hypoglycemia, Elevated hepatic transaminase, Hypotension, Hepat... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomeg... OMIM:232400
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Skeletal muscle hypertrophy, Hepatic steatosis, L... ORPHA:90970
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Atrial arrhythmia... OMIM:310300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Obesity,... ORPHA:98855
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Cirrhosis, Maternal diabetes, Insulin resistance, Myopathy, Loss of ... ORPHA:79083
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hypertension, Hepatomegaly,... ORPHA:79084
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Obesity,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Obesity,... ORPHA:98853
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Lipo... ORPHA:2348
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhabdomyolysis, Hypog... OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Macroglossia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Skeletal mus... ORPHA:528
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Obesity,... ORPHA:98863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Postnatal growth retardation, Int... OMIM:610198
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertr... OMIM:612526
Gitelman Syndrome
Primary hyperaldosteronism, Pericardial effusion, Abnormal T-wave, Delayed puberty, Type II diabe... ORPHA:358
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart fai... OMIM:261740
Propionic Acidemia
Hepatomegaly, Arrhythmia, Hypoglycemia, Cardiomyopathy ORPHA:35
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Ventricular hypertrophy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hep... ORPHA:228305
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Increased sarcoplasmic glycogen, Ventricular septal hypert... ORPHA:370
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure, Intrauterine growth retardation OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Growth delay, Dilated cardiom... OMIM:231530
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Abdominal obesity, Diab... OMIM:615980
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... OMIM:614300
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal cardio... ORPHA:79086
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia, Short stature OMIM:618453
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... ORPHA:45452
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomeg... OMIM:255120
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, ... ORPHA:280365
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Ventri... OMIM:600649
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Intrauterine growth retardation, Short stature, Dilated cardiomyopathy, Re... OMIM:618097
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Transient hyperlipidemia, Elevated hepatic transaminase, Hypoglycemia, Sudden cardiac... ORPHA:156
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 17
Growth delay, Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Abnormal heart morphol... ORPHA:139507
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614702
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Increased connective tissue, Muscular dystrophy, Reduced systolic function, Triangu... OMIM:616827
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:324575
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia, Scapular winging OMIM:310095
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Distal ... ORPHA:42
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Microcephaly 13, Primary, Autosomal Recessive
Intrauterine growth retardation, Short stature, Cardiomyopathy OMIM:616051
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Hemochromatosis, Type 4
Impaired glucose tolerance, Arrhythmia, Glucose intolerance, Cardiomyopathy OMIM:606069
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Hypoglycemia, Endocardial fibroelastosis ORPHA:2022
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Facial palsy, Failure to thrive, Myopathy, Cardiomyopathy OMIM:201470
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Skeletal muscle hypertrophy... OMIM:151660
Nathalie Syndrome
Growth delay, Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Distal amyotrophy, Foot dorsiflexor weakness OMIM:618400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, P... OMIM:201475
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Elevated hepatic transaminase, Ventricula... ORPHA:26793
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Elevated hepatic tra... ORPHA:71212
Distal Myopathy, Tateyama Type
Palpitations, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic h... ORPHA:488650
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Pan... OMIM:619386
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Marked muscular hypertrophy, Hepatic steatosis,... ORPHA:435660
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypogl... ORPHA:99901
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopat... OMIM:602390
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Skeletal muscle hypertrophy,... OMIM:613327
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Decreased liver function, Hypoglycemia, Cardiomyopathy ORPHA:67048
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Dpm3-Cdg
Elevated hepatic transaminase, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles... ORPHA:263494
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, C... OMIM:613313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Increased sarcoplasmic glycogen, Skeletal muscle atrophy, ... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Cardiomyopathy OMIM:608540
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Hepatic steatosis, Congestive heart failure, Generalized amyotrophy... ORPHA:52430
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Lipoatrophy, Insulin resistance ORPHA:79087
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyo... OMIM:612937
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Failure to thrive, Hypertrophic cardiomyopathy OMIM:617228
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Arrhythmia, Elbow flexion contracture OMIM:616516
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Steinert Myotonic Dystrophy
Hypercholesterolemia, Cardiac conduction abnormality, Pelvic girdle muscle weakness, Shoulder gir... ORPHA:273
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Growth delay, Skeletal myopathy, Congestive heart failure... OMIM:302060
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Hypoketotic hypoglycemia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regur... ORPHA:746
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy ORPHA:91130
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging... ORPHA:171439
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Lipoatrophy ORPHA:154
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Elevated hepatic transaminase, ... ORPHA:398124
Cidec-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitu... ORPHA:435651
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Failure to thrive, Dilated cardiomyopathy OMIM:615895
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Atrial arrhythmia, Absent P wav... OMIM:615745
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Congestive heart f... OMIM:611126
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Congestive heart failure, Cachexia, Skeletal muscle atrophy, Myo... ORPHA:157973
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Congestive heart failure, Type II diabetes mellitus, Hypertrophic cardi... ORPHA:225
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Postnatal growth retardation, Decreased liver f... OMIM:617093
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:436182
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Elevated circulating alanine aminotransferase concentration, Left... ORPHA:308552
Hsd10 Disease, Neonatal Type
Abnormality of the liver, Hypertrophic cardiomyopathy ORPHA:391457
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:617872
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis OMIM:615238
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Hernia, Short stature, Splenomegaly, Cardiomyopathy ORPHA:93476
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy, Short stature, Hypoglycemia ORPHA:366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Leber Hereditary Optic Neuropathy
Myopathy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Developmental And Epileptic Encephalopathy 35
Intrauterine growth retardation, Cardiomyopathy OMIM:616647
Mitochondrial Complex I Deficiency, Nuclear Type 22
Intrauterine growth retardation, Hypertrophic cardiomyopathy OMIM:618243
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Glucose intolerance, Elevated hepatic transaminase, Hepatocellular carcino... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Decreased liver function, Hypertrophic... OMIM:246900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Growth delay, Hypoglycemia, Hepatomegaly, Hy... OMIM:306000
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Obesity, Decreased QR... ORPHA:66529
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Muscular dystrophy, Limb-girdle muscular dystro... ORPHA:369840
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Impaired glucose tolerance, Growth delay, Joint contracture of the 5th finge... OMIM:614407
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Abnormal cardiac ventricular function, Hypoglycemia, Hepatomegaly,... ORPHA:2394
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Cardiomyopathy ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618378
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Micronodular cirrhosis, Increased intramyocellular lipid droplets, ... ORPHA:98907
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Peroneal muscle atrophy, Congenital foot contraction deformities, Flexion contracture, Peroneal m... OMIM:118230
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, H... ORPHA:137675
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Alg1-Cdg
Hepatic failure, Hypertrophic cardiomyopathy ORPHA:79327
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Short stature, Ragged-red muscle fibers, Diabete... OMIM:530000
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy... OMIM:617713
Glycogen Storage Disease Iv
Cirrhosis, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Hepatic failure, Failure ... OMIM:232500
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Seckel Syndrome 10
Ventricular hypertrophy, Glucose intolerance, Insulin resistance, Hepatic steatosis, Impaired glu... OMIM:617253
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Rhabdomyolysis, Cholestasis,... OMIM:609015
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Growth delay, Flexion contracture, Abnormal aortic valve mor... ORPHA:1194
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Generalized amyotrophy, Failure to thr... OMIM:613561
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Mitochondrial Complex I Deficiency, Nuclear Type 7
Failure to thrive, Hypertrophic cardiomyopathy OMIM:618229
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, I... OMIM:278000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Situs inversus totalis, Ventricular septal defect, Short statur... OMIM:249270
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resis... ORPHA:79085
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Hypertension, Decreased liver function, Intrauterine growt... OMIM:617021
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Multiple lipomas, Increased adipose tissue, Dilated cardi... ORPHA:1349
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy OMIM:602541
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Hypertrophic cardiomyopathy OMIM:618228
Infantile Refsum Disease
Arrhythmia, Hepatomegaly, Facial palsy, Short stature, Failure to thrive, Cardiomyopathy ORPHA:772
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steatosis, Reduced intraabdom... OMIM:269700
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased liver function, Elevated hepatic transaminase, Hepatic steatosis OMIM:616829
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steatosis, Reduced intraabdom... OMIM:608594
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Short stature, Hypertrophic cardiomyopathy OMIM:613673
X-Linked Centronuclear Myopathy
Atrioventricular block, Skeletal muscle atrophy ORPHA:596
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Diabete... OMIM:609286
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Limb muscle weakness, Weakness of ... ORPHA:329336
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Proportionate short stature, Abnormal left ventricular function, Lo... ORPHA:3208
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Hepatic calcification, Car... ORPHA:228308
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Hepatosplenomegaly, Cardio... OMIM:300842
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Decreased muscle mass, Hepatocellular carcinoma, Elevated jugular venous p... ORPHA:465508
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Failure to thrive, Intrauterine growth retardation, Myopathy, Hypertrophic c... OMIM:618237
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Ketotic hypoglycemia ORPHA:79159
Symmetrical Thalamic Calcifications
Arrhythmia, Failure to thrive ORPHA:1314
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Short stature, Ventricular septal defect ORPHA:2515
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Arrhythmia, Skeletal muscle atrophy ORPHA:99944
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Biliary tract abnormality, Obesity, Inguinal ... ORPHA:3191
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Growth de... ORPHA:66634
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hepatomegaly, Myoc... ORPHA:330001
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fi... OMIM:161800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
Sengers Syndrome
Myopathy, Growth delay, Hypertrophic cardiomyopathy OMIM:212350
Bardet-Biedl Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Diabetes mellitus, Obesity OMIM:615981
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Nemaline bodies, Short stature, Myopathy, Cardiomyopathy OMIM:616549
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Arrhythmia, Elevated hepatic transaminase, Hypotension, Hypoketotic hypogly... ORPHA:159
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Cirrhosis, Elevated hepatic transaminase, Flexion contracture, ... ORPHA:367
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Alstrom Syndrome
Hyperinsulinemia, Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Ins... OMIM:203800
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Hepatomegaly, Decreased liver function, Myopathy, Cardiomyopathy OMIM:614922
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Short stature, Hypoglycemia OMIM:618120
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Rhabdomyolysis, Hypoglycemia, Ch... OMIM:124000
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Arrhythmia, Atrial septal defect, Aortic regurgitation, Ventr... ORPHA:254346
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Elevated hepatic transaminase, Increased muscle l... OMIM:608836
Immune-Mediated Necrotizing Myopathy
Palpitations, EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower l... ORPHA:206569
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... ORPHA:254886
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hypertrophic cardiomyopathy ORPHA:295
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Flexion contracture, Hypertrophic cardiomyopathy OMIM:614462
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Cholestasis, Hepatomegaly, Failure to thrive, Ragged-red muscle... OMIM:614924
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity, Arrhythmia, Short stature ORPHA:2928
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect ORPHA:53296
Mahvash Disease
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased glucagon level... OMIM:619290
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Arrhythmia, Decreased muscle mass, Viral infection-induced rhabdomy... ORPHA:57
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Inc... ORPHA:71
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Dilated cardiomyopathy, Myopathy, W... ORPHA:352447
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Camptodactyly of toe, Marked muscular hypertrophy, Joint contracture of ... OMIM:300280
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy OMIM:616483
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, Mus... OMIM:258450
Nephronophthisis 16
Situs inversus totalis, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aortic valve stenosis, ... OMIM:615382
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hepatic steatosis, Tendon xanthomatosis, Acut... ORPHA:412
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Peroneal muscle weakness, Atrioventricular bloc... OMIM:118301
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Thyrotoxic Periodic Paralysis
Palpitations, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Postpr... ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Failure to thrive, Hypertr... OMIM:618329
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thriv... ORPHA:5
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Short stature... OMIM:256550
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Hemochromatosis Type 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Diabetes mell... ORPHA:79230
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Neonatal hypoglycemia, Cardiomyopathy, Splenomegaly OMIM:619046
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Patent foramen oval... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Intrauterine growth... OMIM:618839
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Sh... OMIM:619013
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Short stature, Hypertrophic cardiomyopathy OMIM:604273
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Short stature, Hypertrophic cardiomyopathy OMIM:618499
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Ataxia With Vitamin E Deficiency
Arrhythmia, Diabetes mellitus, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:96
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Cardiomyopathy OMIM:604250
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Pericardial effusion, Flexion contracture, Abno... OMIM:212065
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Skeletal muscle steatosis, Glycosuria, Hepatomegaly, Decreased liver function, Failure to thrive,... ORPHA:436271
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Cholelithiasis, First degree atrioventricular block, Facial ... OMIM:160900
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Arrhythmia, Increased intramyocellular lipid droplets, Elevated hepatic transam... ORPHA:26791
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:604377
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Ventricular extrasystoles, Bacterial endocarditis, Short stature, Heart block ORPHA:1964
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Al Amyloidosis
Macroglossia, Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage... ORPHA:85443
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Acute pancreatitis, Recurrent pancreatitis, Pulmonary e... ORPHA:444490
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Intrauterine growth retardation OMIM:619003
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy, Diabetes mellitus ORPHA:1215
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Myocardial infarction, Inguinal hernia, Pancreatitis, Failure to thrive, Mitra... OMIM:236200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Glucose intolerance, Elevated hepatic transaminase, Impaired glucose tolerance, Facia... OMIM:610131
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Severe short-limb dwarfism, Rhizomelia, Weight loss, Hepatomegaly, Hernia, ... ORPHA:1842
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Short stature ORPHA:300536
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon ... ORPHA:85446
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Increased hepatocellular lipid droplets, Glycosuria, H... OMIM:220110
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Polyarteritis Nodosa
Pericarditis, Cardiomyopathy, Weight loss, Hypertension, Raynaud phenomenon ORPHA:767
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Hepatomegaly, Generalized amyotrophy, Telangiectasia, Hypertrophic ca... ORPHA:79279
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Progeria-Short Stature-Pigmented Nevi Syndrome