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Gene: Acadvl MGI:895149

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Gene Summary

Name:
acyl-Coenzyme A dehydrogenase, very long chain
Synonyms:
VLCAD

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Acadvlem1(IMPC)H HOM   Early adult 5.76×10-07
decreased fasting circulating glucose level Acadvlem1(IMPC)H HOM Early adult 1.76×10-07

Download data as:  TSV  XLS

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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 Acadvl 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 Acadvl by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Obesity, Hypoketotic hypoglycemia, Exercise-induc... ORPHA:26793

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Cardiomyopathy, Hip flexor weakn... ORPHA:63273
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial musculature, Fatigue... OMIM:619477
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... ORPHA:611
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a... OMIM:619048
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... OMIM:616829
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Cardiomyopathy, Lower limb pain, Distal lower limb muscle weakness, Suprave... ORPHA:320360
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiac Conduction Defect
Arrhythmia, Syncope, Sudden death OMIM:115080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Sudden death, Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, F... OMIM:602087
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red musc... OMIM:500002
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Slend... ORPHA:399103
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Myalgia, EMG: myopathic abnormalities, W... ORPHA:171445
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat... ORPHA:1349
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... ORPHA:280356
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... OMIM:212138
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Myalgia, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Adiposis Dolorosa
Painful subcutaneous lipomas, Chronic pain, Obesity, Arthralgia, Fatigue OMIM:103200
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertension, Lipodys... OMIM:613877
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Myalgia, Rag... OMIM:615418
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Exercise intolerance, Facial palsy, Ragged-red muscle fi... OMIM:616209
Familial Atrial Fibrillation
Exercise intolerance, Chest pain, Palpitations, Syncope, Fatigue, Atrial fibrillation, Myocardial... ORPHA:334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Arrhythmia, Arthralgia, Fatigue, Diabetes mellitus, Impaired... OMIM:606069
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Fatigue, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Muscle
Exercise intolerance, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enlargement,... OMIM:611556
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Exercise intole... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy ORPHA:35
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Fatigue ORPHA:52416
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... ORPHA:98911
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Cardiomyopathy, Supraventricular tachycardia, Myopathy, Fatty replacement o... OMIM:255100
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden death, Congestive heart failure, Abnormal left ventricular functio... OMIM:605362
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Myopathy ORPHA:366
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Chest pain, Palpitatio... OMIM:608758
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Exercise intolerance, Cardiomyopathy, Myalgia, Limb muscle weakness, Ragged-red muscle fibers, Ar... OMIM:609286
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Fatigue... ORPHA:276608
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Coronary Artery Disease, Autosomal Dominant, 1
Chest pain, Obesity, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Macrophagic Myofasciitis
Arthralgia, Myalgia, Fatigue ORPHA:592
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa... OMIM:615980
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Arthrogryposis multiplex congenita, Failure to thrive OMIM:616326
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transa... OMIM:232400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr... OMIM:609308
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Inguinal hernia, Distal lower limb muscle wea... OMIM:619903
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure ORPHA:2022
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Type II diabetes mellitus, Hepatic steatosis, Hyper... OMIM:615703
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Merrf
Multiple lipomas, Ragged-red muscle fibers, Myopathy ORPHA:551
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Chest pain, Calf muscle hypertrophy,... ORPHA:263494
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 21
Sudden death, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventric... OMIM:614676
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 1
Sudden death, Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septa... OMIM:192600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Fatty replacement of ... ORPHA:171706
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Exercise intolerance, Cardiomyop... ORPHA:171439
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Chest pain, Paroxysmal atrial fibrillation, Left ventricular hypertr... OMIM:613874
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... ORPHA:2593
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:614582
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Fatigue ORPHA:2023
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Chest pain, Abnormal cardiovascular system physiology, Palpitations, Pul... ORPHA:422
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:620235
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Pulmonary arte... OMIM:616299
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Exercise intolerance, Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycos... OMIM:615352
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Fatigue, Sudden c... ORPHA:156
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... OMIM:618129
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Ketotic hypoglycemia, Hepatic steatosis, Myopathy ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiac arrest, Bradycardia OMIM:618235
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ch... ORPHA:3287
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Hypertension, Left ventricular hype... OMIM:540000
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Chest pain, Palpitations, Prolonged Q... OMIM:604400
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Chest... ORPHA:206569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Sengers Syndrome
Exercise intolerance, Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Fat... OMIM:212350
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic st... ORPHA:2348
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise intolerance, Skeletal muscle atrophy, Postexertional symptom exacerbation, Hypertrophic ... ORPHA:368
Insulinoma
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hy... ORPHA:97279
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Nathalie Syndrome
Arrhythmia ORPHA:2663
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Decreased body weight, Type 1 fibers relatively smaller than ty... OMIM:300580
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Ragged-red muscle fibers OMIM:609283
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal fibrosis, Elevated cir... OMIM:605814
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Multiple Symmetric Lipomatosis
Insulin resistance, Arthralgia, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertensi... ORPHA:71529
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... OMIM:231100
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto... OMIM:609452
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Im... OMIM:614407
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, N... OMIM:256030
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy OMIM:619651
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Facial palsy, Flex... OMIM:603511
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Increased... OMIM:616827
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Chest pain, Cerebral ischemia, Right bundle branch block, Imperforate t... ORPHA:1880
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Paroxysmal ... OMIM:613205
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension... OMIM:232500
Atrial Standstill 2
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia OMIM:222730
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Fatigue, Abnormal muscle fiber morp... OMIM:123320
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... ORPHA:435651
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Cardiomyopathy ORPHA:67048
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Mucolipidosis Type Iii
Abnormal heart valve morphology, Fatigue, Inguinal hernia, Abnormal aortic valve morphology ORPHA:577
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Exercise intolerance, Myalgia, Type 1 muscle fiber pr... OMIM:614807
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... OMIM:253700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, B-cell lymphoma, Weight loss, Fatigue, Breast carcinoma ORPHA:86893
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr... ORPHA:209902
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Myopathy, Fatigue, Limb-girdle muscle weakness, Diabetes mellitus ORPHA:1215
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Fulmina... OMIM:231530
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf... OMIM:618805
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... OMIM:615381
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cholangiocarcinoma
Biliary tract neoplasm, Abdominal pain, Fatigue ORPHA:70567
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Bradycardia, Umbilical hernia ORPHA:95717
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Myopathy, Ventricular preexcitation ORPHA:104
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Fatigue, Ri... OMIM:265400
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity OMIM:620270
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Eosinophilic Fasciitis
Cellulitis, Fasciitis, Myalgia, Myositis, Muscular edema, Weight loss, Arthralgia, Fatigue ORPHA:3165
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Failure to thrive ORPHA:79283
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Exercise intolerance, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardio... OMIM:252011
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... ORPHA:79085
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Myalgia, Mitral valve prolapse, Arrhythmia,... ORPHA:230839
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Hepatic ... ORPHA:280365
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, I... OMIM:613530
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Ventricular fibri... OMIM:115197
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy OMIM:613752
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:94080
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Systemic Capillary Leak Syndrome
Hypotension, Myalgia, Arrhythmia, Weight loss, Fatigue, Constitutional symptom, Myocarditis, Abdo... ORPHA:188
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... OMIM:615996
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus OMIM:615981
Familial Colorectal Cancer Type X
Neoplasm of the colon, Stomach cancer, Neoplasm of the skeletal system, Neoplasm of the rectum, W... ORPHA:440437
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal circul... ORPHA:70472
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Tall stature, Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness ... ORPHA:1878
Epiphyseal Dysplasia, Multiple, 2
Knee pain, Fatigue, Foot pain OMIM:600204
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertension, Diabetic ketoacidosis OMIM:615238
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Neopl... ORPHA:2126
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Sudden death, Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysma... OMIM:614021
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Exercise intolerance, Skeletal muscle atrophy, Cardiomyopat... ORPHA:329336
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellitus, Generalized lipodystroph... ORPHA:79086
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... OMIM:618234
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-c... OMIM:201450
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Hyperglycemia, Portal hypertensi... ORPHA:465508
Congenital Generalized Lipodystrophy
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepa... ORPHA:528
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle lipid content, Hypertrophied muscle fibers, Ragged-red muscle... OMIM:500009
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Cachexia, Arrhythmia, Flexion contra... ORPHA:157973
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Failure to thrive, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, G... OMIM:613561
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Methylmalonic Acidemia With Homocystinuria
Fatigue, Failure to thrive ORPHA:26
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Failure to thrive, Abnormal heart morphology, Hypertrophic cardiomyopathy, ... OMIM:618250
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Atrial septal defect, Hypoglycemia OMIM:620211
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Chest pain, Palpitations, Right bundle branch block, Premature ... OMIM:610193
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Muscl... OMIM:614399
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Type 1 fib... OMIM:255310
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Chest pain, Abnormal aortic valve morphology, Abnorma... ORPHA:3099
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyo... ORPHA:2394
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Mitochondrial Dna Depletion Syndrome 11
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyo... OMIM:615084
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension, Fatigue ORPHA:526
Barth Syndrome
Exercise intolerance, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypert... OMIM:302060
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Low-output congestive heart failure ORPHA:91130
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10