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Gene: Lamp2 MGI:96748

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lysosomal-associated membrane protein 2
Synonyms:
Mac3,  Lamp-2a,  Lamp-2b,  CD107b,  Lamp-2c,  Lamp-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lamp2 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... OMIM:181350
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch... OMIM:608758
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... ORPHA:206546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Abnormal cir... OMIM:617336
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ... OMIM:609200
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:300376
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating creatin... OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Congestive heart failure, B... OMIM:619048
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... ORPHA:57777
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy, D-2-hydroxyglutaric acidemia OMIM:613657
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... ORPHA:86812
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98853
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98863
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lowe... ORPHA:320360
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:611615
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli... ORPHA:263297
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom... OMIM:255100
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia, Hepatomegaly OMIM:609016
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... OMIM:300696
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle... OMIM:614654
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Combined Oxidative Phosphorylation Deficiency 16
Death in infancy, Hypertrophic cardiomyopathy OMIM:615395
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... OMIM:255160
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... ORPHA:98911
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... OMIM:608807
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block ORPHA:480
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... OMIM:604286
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent... OMIM:613156
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Mildly eleva... ORPHA:399086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... OMIM:609308
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... ORPHA:206559
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture, Elevated circulating creatinine ... OMIM:616733
Cardiomyopathy, Dilated, 2C
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... OMIM:618189
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Death in childhood OMIM:619651
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Elevated circulating creatine kinase concentration, Shoulder girdle muscle weak... OMIM:310095
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... ORPHA:308552
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Hyperalaninemia, Death in infancy OMIM:616974
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Nathalie Syndrome
Arrhythmia ORPHA:2663
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C... OMIM:617713
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... OMIM:615352
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Increased circulati... OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo... OMIM:619424
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila... ORPHA:34515
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase conce... OMIM:610717
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contracture of the... OMIM:614407
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... OMIM:609452
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... ORPHA:45452
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Increased variability in muscle fiber diameter, Bradycardia, Death in childhood... OMIM:620265
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ... OMIM:300718
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... OMIM:616827
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Kearns-Sayre Syndrome
Diabetes mellitus, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block,... OMIM:530000
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Combined Oxidative Phosphorylation Deficiency 17
Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy OMIM:615440
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Pericard... ORPHA:358
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Death in infanc... OMIM:619355
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Left ventri... ORPHA:251274
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle... OMIM:612937
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, L... ORPHA:1177
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... ORPHA:746
Endocardial Fibroelastosis
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear... OMIM:261740
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Death in infancy OMIM:616647
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... OMIM:615745
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:232400
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Noonan Syndrome 8
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:615355
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... ORPHA:225
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... OMIM:608810
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, H... ORPHA:276580
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... OMIM:300695
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy OMIM:617184
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Increased circulating ferritin concentratio... OMIM:613313
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l... OMIM:613155
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... ORPHA:488650
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:154
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:310200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ... OMIM:617021
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:613153
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:614321
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ... OMIM:212140
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... ORPHA:98896
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomy... OMIM:618815
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart failure, Splenomegaly, Increased ... OMIM:235200
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Abnormal cardiac septum morphology, Facial hypotonia, First degree atriovent... ORPHA:589821
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy ORPHA:3222
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... ORPHA:79159
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperprolinemia, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Hyperalaninemia OMIM:619003
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyo... OMIM:619433
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Type II diabetes mellitus ORPHA:99725
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Myopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Myotonic Dystrophy 1
Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat... ORPHA:228305
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Myopathy, Ketotic hypoglycemia ORPHA:26792
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb mu... OMIM:266500
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, H... OMIM:614702
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Death in childhood OMIM:618683
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Decreased mitochondrial number, Myopathy ORPHA:352470
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati... ORPHA:353
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Myofibrillar ... OMIM:612954
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop... ORPHA:119
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... OMIM:618234
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Nonketotic hyperglycinemia ORPHA:401866
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Cardiomyopathy, Dilated, 2E
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... OMIM:619492
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Dilat... OMIM:615084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:613158
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Death in infancy, Cardiomegaly, Hyperprolinemia, Death in childhoo... OMIM:619064
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ... ORPHA:401768
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 20
Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Elevate... OMIM:201475
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Sarcosinemia
Hypertrophic cardiomyopathy, Hypersarcosinemia, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension, Hypokalemia, Decreased circulating renin level ORPHA:320
Mitochondrial Complex I Deficiency, Nuclear Type 7
Death in infancy, Hypertrophic cardiomyopathy OMIM:618229
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Death in childhood, Hypertrophic cardiomyop... OMIM:246900
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient ... ORPHA:156
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Con... ORPHA:1194
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Diabetes mellitus, Facial palsy, Elevated circulating creatine kinase concen... ORPHA:254892
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Death in childhood OMIM:618321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial sept... OMIM:249270
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Myopath... ORPHA:157973
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasem... OMIM:619386
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia ORPHA:67048
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Cardiac myxoma, Pulmonic valve m... ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Death in infancy, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hypera... OMIM:619046
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo... ORPHA:79102
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Hand muscle w... ORPHA:254886
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly... OMIM:269920
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevate... OMIM:620300
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... OMIM:619698
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Splenomega... OMIM:300842
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopa... ORPHA:1349
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Bardet-Biedl Syndrome 2
Atrial septal defect, Diabetes mellitus, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ... OMIM:619051
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... ORPHA:352447
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Abnormal circulating creatine k... ORPHA:521411
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyopath... OMIM:618839
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... ORPHA:206569
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, A... OMIM:609286
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concent... ORPHA:42
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Infantile Refsum Disease
Hepatomegaly, Facial palsy, Elevated circulating phytanic acid concentration, Cardiomyopathy, Arr... ORPHA:772
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert... OMIM:619487
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge... ORPHA:368
Hemochromatosis, Type 3
Cardiomyopathy, Elevated transferrin saturation, Increased serum iron, Increased circulating ferr... OMIM:604250
Hurler-Scheie Syndrome
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly ORPHA:93476
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Cong... ORPHA:49827
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Noonan Syndrome 10
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:616564
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concent... ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... ORPHA:767
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... OMIM:618120
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Atrophoderma Vermiculata
Heart block ORPHA:79100
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ... ORPHA:57
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Portal hypertension, Cardiomegaly, Conges... ORPHA:465508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... ORPHA:228308
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal deat... OMIM:618835
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... ORPHA:52430
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Subvalvular aortic stenosis, A... ORPHA:3191
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase c... OMIM:620326
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Death in infancy, Cardiac arrest, Myofiber disarray, Myop... OMIM:604377
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac... ORPHA:3386
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Sudden cardiac death, Elevated ... ORPHA:99901
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Ragged... OMIM:258450
Nephronophthisis 16
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... OMIM:615382
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Hypoglycemia, Hyperammonemia OMIM:616483
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia ORPHA:96
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Congestive heart failure, Dilated cardiomyopathy, Death in childh... OMIM:611126
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration... OMIM:618886
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Hyperalaninemia, Cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:324525
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia OMIM:618805
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Hyperkalemic Periodic Paralysis
Hyponatremia, Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Elevated circu... ORPHA:682
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop... OMIM:618250
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Hydrops Fetalis
Miscarriage, Pericardial effusion, Capillary leak, Abnormal heart morphology, Arrhythmia ORPHA:1041
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Neonatal death, ... OMIM:620167
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Hyperlipidemia ORPHA:369
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Dilated cardiomy... OMIM:607155
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Limb-girdle muscle weakness, Diabetes mellitus, Myopathy ORPHA:1215
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Death in childhood, Hyperalaninemia, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal di... ORPHA:79083
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Increased circulating fr... ORPHA:71212
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilate... OMIM:619573
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Cardiomyopathy, Hyperammonemia, Hepatomegaly ORPHA:79312
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Refsum Disease
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly ORPHA:773
Vici Syndrome
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... OMIM:242840
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... ORPHA:185
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Scapular winging, Hypoglycemia, Elevated circulating creat... ORPHA:26791
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Elevated circulating phytanic acid concentration OMIM:614879
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Isolated Atp Synthase Deficiency
Hepatomegaly, Dilated cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninemia, Hypertrophic c... ORPHA:254913
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:230839
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca... ORPHA:79279
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... OMIM:615578
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Cardiomyopathy, Myopathy, Stillbirth, Death in childhood, Neonata... OMIM:614922
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:280365
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... OMIM:619518
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly OMIM:619148
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Cardiac arrest, Acute rhabdomyolysis, Elevated circulating creatine kinase concentr... OMIM:616878
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology ORPHA:70472
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Splenomegaly, Ab... ORPHA:2348
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Dila... ORPHA:363623
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claud... OMIM:259900
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:544469
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... OMIM:614921
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Insulin resistance, Insulin-re... ORPHA:79086
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Endocar... OMIM:619313
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Insulin resistan... ORPHA:528
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Hypoglycemia, Elevated circulating creat... OMIM:608836
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Impaired glucose tolerance, Facial palsy, Elevated circulating creatine kinase concentration, Lim... OMIM:610131
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrha... ORPHA:509
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Hyperammonemia, Hepatomegaly ORPHA:27
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... OMIM:618775
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... OMIM:251000
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction, Elevated circulating creatine kina... OMIM:618098
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse OMIM:145350
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Combined Oxidative Phosphorylation Deficiency 5
Death in infancy, Hypertrophic cardiomyopathy, Hyperammonemia OMIM:611719
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:2928
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Elevated... OMIM:619127
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Hyperglycinemia, Hypertrophic cardiomyopathy OMIM:614299
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... ORPHA:370959
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Singleton-Merten Syndrome 2
Aortic valve calcification, Arrhythmia, Aortic valve stenosis OMIM:616298
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, T... ORPHA:401923
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure OMIM:229300
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglycinemi... OMIM:606054
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly ORPHA:391428
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... OMIM:605676
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension, Insulin resistance, Diabetes mellitus OMIM:209900
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulm... OMIM:615415
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia ORPHA:99745
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Neutral Lipid Storage Myopathy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Hand muscle weakness, Fatty replacement of... ORPHA:98908
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Limb hypertonia OMIM:617710
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Congestive heart failure, Spleno... OMIM:230500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Hypertension, Death in childhood, Pulmonary arterial hypertension OMIM:613320
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly OMIM:619902
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardi... OMIM:610768
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly OMIM:616651
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Type 2 muscle fiber atrophy, Vir... ORPHA:99845
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormality of iron homeostasis ORPHA:848
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Arrhythmia, Myocardial infarction ORPHA:54057
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Conges... OMIM:615895
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Hypocalcemia ORPHA:2238
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypokalemia, Palpitations OMIM:188580
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Aortic valve atresia, Hype... OMIM:220111
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Arrhythmia, Cardiac arrest ORPHA:168593
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Abnormal mitochondrial shape, Decreased activity of mitochondrial comple... ORPHA:17
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... ORPHA:31824
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100080
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Ab... ORPHA:98907
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Elevated circulating C-reactive protein concentr... OMIM:608068
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperammonemia, Hypertension, Arrhythmia, Death in childhood, Neonatal death, Hyperalaninemia, Hy... OMIM:614052
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Ebstei... ORPHA:466791
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension ORPHA:292
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... OMIM:620306
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ... OMIM:164310
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Hypertension, Hyperbilirubinemia, Atrial septal defect, Left ventricu... OMIM:613610
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Miscarriage, Myocarditis, Congestive heart failure, Spl... ORPHA:3385
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated circulating glutaric acid concentration, Muscular ventricular sep... ORPHA:66634
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:1842
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... ORPHA:247691
Vici Syndrome
Cardiomyopathy, Death in infancy ORPHA:1493
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Wolfram Syndrome 1
Cardiomyopathy, Diabetes mellitus OMIM:222300
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hyperlipidemia, Mitral regurgitation, Atrial sep... ORPHA:254346
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating cre... ORPHA:480864
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis ORPHA:276432
Melas
Wolff-Parkinson-White syndrome, Diabetes mellitus, Cardiac conduction abnormality, Dilated cardio... ORPHA:550
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Lower limb amyotrophy ORPHA:496790
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Primary Hyperoxaluria
Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent ... ORPHA:416
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... ORPHA:284984
Legionnaires Disease
Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypoglycemia, Elevated circulating c... ORPHA:264580
Fontaine Progeroid Syndrome
Atrial septal defect, Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasi... OMIM:612289
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Hyperammonemia, Type 2 muscle fiber predominance, Arrhythmia, Hyperalani... OMIM:615471
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Death in childhood OMIM:612938
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Hypoalbu... OMIM:617303
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... ORPHA:769
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hurler Syndrome
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Angina pectoris, Camptodactyly o... ORPHA:93473
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas... ORPHA:354
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Right ventricular hyper... ORPHA:217563
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Dominant Beta-Thalassemia
Diabetes mellitus, Hypoplasia of the musculature, High-output congestive heart failure, Splenomeg... ORPHA:231226
Aicardi-Goutieres Syndrome 1
Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly OMIM:225750
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia ORPHA:171876
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Glycosuria, Increased intramyocellular lipid droplets, Death in childhood, Weakness... OMIM:220110
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,... ORPHA:251071
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Death in infancy, Pericardial effusion, Flexion contracture, Death in... OMIM:212065
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Neonatal hypoglycemia ORPHA:445038
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy, Diabetes mellitus ORPHA:95
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Beta-Thalassemia Major
Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, High-output congestive heart fail... ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypertrophic cardiomyopathy, Hypoalbuminemia, Hypoglycemia OMIM:618329
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... OMIM:607014
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Hypertrophi... ORPHA:361
Meacham Syndrome
Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl... OMIM:608978
Distal Deletion 12Q
Diabetes mellitus, Maturity-onset diabetes of the young, Elbow flexion contracture, Congenital hy... ORPHA:96149
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ... OMIM:253200
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, L... ORPHA:255210
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis, Glycosuria ORPHA:436271
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, D... ORPHA:309854
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:886
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Unconjugated hyperbilirubinem... OMIM:613673
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypertrophic cardiomyopa... ORPHA:2609
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Increased serum beta-hexosaminidase, Cardiom... OMIM:252500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... OMIM:253220
Fumarase Deficiency
Mitochondrial swelling, Perimembranous ventricular septal defect, Decreased fumarate hydratase ac... OMIM:606812
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Cartilage-Hair Hypoplasia
Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ... ORPHA:175
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia ORPHA:572798
Hereditary Spherocytosis
Splenomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia, Hepatomegaly ORPHA:822
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failure, De... ORPHA:14
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia, Double ... ORPHA:397
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine ORPHA:289601
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... ORPHA:73224
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Mitochondrial Complex I Deficiency, Nuclear Type 2
Increased serum pyruvate, Hypertrophic cardiomyopathy OMIM:618222
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo... ORPHA:579
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardi... OMIM:130650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy OMIM:616084
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypertyrosinemia, Hypoglycemia, Elevated circulating a... OMIM:276700
Pagod Syndrome
Death in infancy, Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus totalis, ... ORPHA:991
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glucose intolerance, Hypertrophic cardiomyopathy, Elevated hemoglobin A1c, Glycosuria OMIM:616539
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Mgat2-Cdg
Arrhythmia, Ventricular septal defect, Reflex asystolic syncope, Abnormal heart morphology ORPHA:79329
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceride... OMIM:256040
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Postinfectious Vasculitis
Cerebral vasculitis, Abnormal circulating protein concentration, Elevated circulating C-reactive ... ORPHA:48435
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Pearson Syndrome
Hepatomegaly, Diabetes mellitus, Cardiac conduction abnormality, Splenomegaly, Abnormal heart mor... ORPHA:699
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Generalized muscular appeara... OMIM:608594
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Death in infancy, Hypoglycemia, Splenomegaly, Ragged-red m... OMIM:252010
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Hepatosplenomegaly ORPHA:79255
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Death in infancy, Ventricular septal de... ORPHA:373
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Diabetes mellitus, Myopathy ORPHA:3463
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Lymphedema-Distichiasis Syndrome
Arrhythmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Hyperlipidemi... ORPHA:391665
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Diabetes mellitus, Camptodactyly of finger ORPHA:3220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy OMIM:615398
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Generalized muscular a... OMIM:269700
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Congestive heart failure, Myocarditis, Vasculitis,... ORPHA:2331
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Localized Scleroderma
Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy, Arrhythmia ORPHA:90289
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger ORPHA:261211
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Hypophosphatemic rickets, Arrhythmia, Rhabdomyosarcoma ORPHA:2874
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Co... ORPHA:506
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia ORPHA:139411
Botulism
Arrhythmia ORPHA:1267
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Inflamm... ORPHA:221
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... OMIM:300855
Foodborne Botulism
Arrhythmia ORPHA:228371
Toriello-Carey Syndrome
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis ORPHA:3338
Castleman Disease
Restrictive cardiomyopathy, Elevated circulating C-reactive protein concentration ORPHA:160
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia ORPHA:428
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Rhabdomyolysis, Ragged-red muscle fibers, Recurrent hypoglycemia,... OMIM:124000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Increased circulating ... OMIM:615846
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Hy... ORPHA:508
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis ORPHA:79430
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger, Hypotension ORPHA:2135
Lymphedema-Distichiasis Syndrome
Arrhythmia, Diabetes mellitus ORPHA:33001
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger, Hypoglycemia ORPHA:2710
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Restrictive... ORPHA:369837
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Arrhythmia ORPHA:342
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepat... ORPHA:51
Noonan Syndrome
Hepatomegaly, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pulmonar... ORPHA:648
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect ORPHA:33364
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... ORPHA:2162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Splenomegaly, Hepatomegaly, Arrhythmia, Arthrogryposis multiplex congenita ORPHA:163746
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re... ORPHA:90324
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabd... ORPHA:116
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy ORPHA:68
Costello Syndrome
Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Mitral va... OMIM:218040
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Death in infancy, Shoulder flexion contracture, Elevate... ORPHA:800
Oculoectodermal Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack OMIM:600268
Ivic Syndrome
Arrhythmia ORPHA:2307
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Zimmermann-Laband Syndrome 1
Splenomegaly, Cardiomyopathy, Hepatomegaly OMIM:135500
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Death in infancy, Ventricular septal defect, Splenomegaly, Hypertension, Hypoalbumi... OMIM:270400
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Hypercalc... ORPHA:797
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:1328
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Hypertension, Death in childhood, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hip contracture, Hepatomegaly, Splenomegaly, Hypertension, Arrhythmia OMIM:216400
Acromegaly
Diabetes mellitus, Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Diabetes mellitus, Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:828
Noonan Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:163950
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... ORPHA:97685
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture ORPHA:285
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Reduced thyroxi... ORPHA:79318
Pallister-Killian Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Ca... OMIM:601803

Histopathology

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

There is no histopathology data for Lamp2

IMPC related publications

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

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lamp2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lamp2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lamp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lamp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lamp2tm43606(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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