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Gene: Irx4 MGI:1355275

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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:
Iroquois homeobox 4
Synonyms:
N/A

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 Irx4 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.

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

The table below shows human diseases predicted to be associated to Irx4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Cardiomyopathy, Dilated, 2A
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1M
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract... OMIM:613286
Cardiomyopathy, Dilated, 1Hh
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy OMIM:613881
Glycogen Storage Disease 0, Muscle
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... OMIM:611556
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... OMIM:615248
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased variability in... OMIM:302045
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... OMIM:614676
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation, Left ventricula... OMIM:613874
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic diameter, Lef... OMIM:612201
Cardiomyopathy, Dilated, 1K
Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy OMIM:605582
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Ethanolaminosis
Cardiomegaly OMIM:227150
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 2B
Congestive heart failure, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... OMIM:602086
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Scapular winging, Pelvic... OMIM:604286
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyocyte hypertrophy, Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... OMIM:613690
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... ORPHA:206546
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Calf muscle hypertrophy, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Increase... OMIM:608099
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Thenar muscle atrophy, Dilated cardiomyop... OMIM:619903
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Myopathy, Myofibrillar, 3
Distal amyotrophy, Cardiomyopathy, Myofibrillar myopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Concentric hypertrophic cardiomyopathy, Left atrial enlargement, R... OMIM:619402
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... OMIM:601419
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial... OMIM:619897
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... OMIM:614022
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... OMIM:614065
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Hypotension, Right atrial enlargement, Abnormal ST se... OMIM:612422
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Skeletal muscle atrophy, Reduced systolic function, Triangular ... OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Sudden cardiac death, Reduced left ventr... OMIM:612124
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy OMIM:619492
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Hep... OMIM:619424
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Left atrial enlargement, Distal lower limb muscle weakness, Typ... OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... OMIM:620236
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Dpm3-Cdg
Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness, Dilated cardiomyopathy, Calf ... ORPHA:263494
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy, EMG: myopathic abnormalities, Distal upp... ORPHA:603
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Increased vari... OMIM:612937
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... OMIM:610476
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, Dilated cardiomyopathy,... OMIM:300718
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Left ventricular systolic dysfuncti... ORPHA:206559
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Facial palsy, Dilated cardiomyopathy, Type 1 fibers relative... OMIM:300580
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ... ORPHA:63273
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Arrhythmia, Severely reduced left ve... OMIM:611705
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia, Dilated cardiomyopathy OMIM:605676
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... OMIM:108900
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia ORPHA:324588
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebs... OMIM:611878
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Sick Sinus Syndrome 2
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Splen... OMIM:602390
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Proximal amyotrophy, Fourth heart sound, Right axis deviation, Type ... OMIM:255160
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Cardiomyopathy, Scapu... OMIM:301075
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Cardiomyopathy, Triceps... ORPHA:86812
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty ... OMIM:608807
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Intrinsic hand muscle atrophy, Wrist drop, Heart block, Cardiomyopathy, Pro... ORPHA:98912
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Fixed Subaortic Stenosis
Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Bacterial endocarditis, Ventricul... ORPHA:3092
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Weakness of facial musculature, Cardiomyopathy, EMG: myopathic ab... ORPHA:399103
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Myofibrillar Myopathy 10
Prolonged QTc interval, Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic ab... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... OMIM:115197
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Distal Myotilinopathy
Abnormal muscle fiber myotilin, Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, ... ORPHA:98911
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Muscular dystrophy, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden ... ORPHA:300751
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Myopathy, Left ventricular hypertrophy, Arrhythmia, Hypertension,... OMIM:540000
Danon Disease
Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely... OMIM:300257
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy, Congestive heart failure, Br... OMIM:619048
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Flexion contracture, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lower limb muscle weakness ORPHA:320360
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly OMIM:607685
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Scapular winging, ... OMIM:612999
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Hypertension, Left ventricular hypertrophy OMIM:102200
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... OMIM:614473
Congenital Aortic Valve Stenosis
Abnormal T-wave, Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Reduced lef... ORPHA:3093
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertro... OMIM:609308
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Atrial fibrillation, Angina pectoris, Hypertrophic ca... OMIM:115195
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... ORPHA:439
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Mitral regurgitation, Left atrial enlargement, Syncope, Pulmonary ... ORPHA:75249
Sudden Cardiac Failure, Infantile
Myocarditis, Bradycardia, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyop... OMIM:617222
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Familial Cutaneous Collagenoma
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect ORPHA:53296
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Left atri... ORPHA:57777
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Left atrial enlargement, Left ventricu... OMIM:300280
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Dilated cardiomyopathy, H... OMIM:252011
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of... ORPHA:399086
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Congestive heart failure... OMIM:614096
Congenital Myopathy 2A, Typical, Autosomal Dominant
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline bodies, Facial palsy, Di... OMIM:161800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Global systolic dysfunction, Nemaline bodies, Limb muscle weakness OMIM:606842
Myopathy, Centronuclear, 5
Mitral regurgitation, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers,... OMIM:615959
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... OMIM:619167
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... ORPHA:444013
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Wolff-Parkinson-White syndrome, Distal lower limb muscle... OMIM:619566
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia OMIM:606703
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Dilated cardi... OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... OMIM:610198
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber ... ORPHA:399058
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... ORPHA:3208
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Congestiv... OMIM:618654
Propionic Acidemia
Arrhythmia, Cardiomyopathy, Hepatomegaly ORPHA:35
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Muscle fiber splitting, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathi... OMIM:609452
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: my... OMIM:300696
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragg... ORPHA:1349
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Limb-girdle muscle weakness, Muscular dystrophy, Cardiomyopathy, Hypoglycosylation of alpha-dystr... OMIM:615352
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Myopathy, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, D... ORPHA:272
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Hepatomegaly, Dilated cardiomyopathy OMIM:618805
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Knee flexion contracture, Hamstring contracture... OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Muscular dystr... OMIM:613156
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... OMIM:620152
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Limb joint cont... OMIM:255310
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Arrhythmia, Facial palsy, Dilated cardiomyopathy, Generalized amyotrophy, Ra... OMIM:615084
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Noonan Syndrome 8
Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Left ventricular hypertrophy, Vent... OMIM:615355
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Congenital Myopathy 24
Type 1 muscle fiber predominance, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree... OMIM:617336
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy OMIM:618120
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Cardiomyopathy, Dilated cardiomyopathy, Telangiectasia of the skin, Finger ... OMIM:212112
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Dk1-Cdg
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D... ORPHA:91131
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Hypertension, Left ventricular hypertrophy OMIM:616733
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep... ORPHA:555874
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... ORPHA:2041
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy OMIM:145350
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... ORPHA:99106
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98853
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... ORPHA:263297
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Shoulder girdle muscle weakness, Achilles tendon contracture, Thigh hypertrophy, Co... OMIM:607155
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia, Dilatation ... OMIM:600996
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:618236
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Hepatomegaly, Tricuspid regurgitation, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Abnormal heart v... ORPHA:169186
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Myopathy OMIM:610717
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Weakness of facial musculature, Arrhythmia, Dilated cardiomyopathy, Generalized amyotro... ORPHA:352447
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hepatomegaly, Flexion contracture, Splenomegaly, Joint contracture OMIM:608540
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Cardiomyopathy, Flexion contracture of finger, Increased endom... ORPHA:206549
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomeg... ORPHA:308552
Tangier Disease
Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Hepatomegaly, Myocardial infarc... OMIM:205400
Polymyositis
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Hepatomegaly, Abnormal muscle fiber mor... ORPHA:732
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage ORPHA:280679
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Left ventricular hypertrophy, Ventricular septal defect, Hyperte... OMIM:615474
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Cardiomyopathy, Hepatomegaly, Ventricular hypertrophy OMIM:232400
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... ORPHA:615
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:613313
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... ORPHA:860
Cardiac Diverticulum
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1686
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... OMIM:608810
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Abnorma... ORPHA:367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Muscular dystrophy, Cardiomyopathy, Facial palsy, Congenital muscular dystrophy, Ab... OMIM:613155
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Bicuspid aortic valve, Aortic regurgitation, Dilated cardiomyopathy ORPHA:401923
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Hypoplastic left heart, Ventricular septal defect OMIM:616276
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased variability in muscle fiber di... ORPHA:119
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro... ORPHA:90065
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Hepatomegaly, Abno... ORPHA:398124
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Left ventricul... ORPHA:99094
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... ORPHA:34217
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Cardiomyopathy, Hypertension ORPHA:3222
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... ORPHA:251274
Intermediate Nemaline Myopathy
Facial diplegia, Type 1 muscle fiber predominance, Cardiomyopathy, Skeletal muscle atrophy, EMG: ... ORPHA:171433
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Mcleod Syndrome
Rhabdomyolysis, Myopathy, Cardiomyopathy, Atrial fibrillation, Hepatomegaly, Dilated cardiomyopat... OMIM:300842
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... OMIM:609040
Collagenoma, Familial Cutaneous
Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive... OMIM:115250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... OMIM:619313
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... OMIM:615745
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenosis, Hypertrophic c... OMIM:615382
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Endocardial fibroelastosis, Mitral regurgitation OMIM:226100
Barth Syndrome
Skeletal myopathy, Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Dilated cardiom... OMIM:302060
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Mitral regurgitation, Left ventricular hypertrophy, Lower limb muscle weakness, S... ORPHA:746
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Lower limb muscle weakness, Cardiomyopathy, Lower limb hypertonia, Generalized amyo... ORPHA:1177
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... ORPHA:99104
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Splenomegaly ORPHA:93476
Congenital Fibrinogen Deficiency
Internal hemorrhage, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy ORPHA:335
Cln3 Disease
Bradycardia, T-wave inversion, Left ventricular hypertrophy ORPHA:228346
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v... OMIM:265400
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Sarcosinemia
Peroneal muscle weakness, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hepatomegaly, Congestive heart failure, Hypertrophic ca... OMIM:618234
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Myopathy, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Hypertrop... OMIM:212140
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... OMIM:234700
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Myopathy, Myofibrillar, 6
Mitral regurgitation, Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, M... OMIM:612954
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Tricuspid regurgitation, Ventricular hypertrophy, Hypertrophic c... OMIM:619051
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Atrial septal defect, Vent... ORPHA:26793
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities, Sudden cardiac death, Congestive heart failure, Dilated c... ORPHA:99901
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Fabry Disease
Left ventricular hypertrophy, Arrhythmia, Hypertension, Transient ischemic attack, Angina pectori... OMIM:301500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:230500
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy, Hypertrophic cardiomyopathy OMIM:618237
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:618499
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness OMIM:266500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Chromosome 1P36 Deletion Syndrome, Proximal
Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricul... OMIM:619343
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:225
Desminopathy
Concentric hypertrophic cardiomyopathy, Distal lower limb muscle weakness, Weakness of facial mus... ORPHA:98909
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... OMIM:618619
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:300845
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Myopathy, Arrhythmia, Congestive heart failure, Dilated cardiomyopathy OMIM:609015
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Ventricular tachycardia, Dilated cardiomyopathy, Ventricular fibrillation, Histio... OMIM:300952
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Type 1 muscle fiber predominance, ... ORPHA:171439
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy, Hepatomegaly OMIM:606069
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy OMIM:249270
Hemochromatosis, Type 1
Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Congestive heart failure, Cardiomegaly,... OMIM:235200
Noonan Syndrome 10
Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Left ve... OMIM:616564
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Weakness of facial musculature, Cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricula... ORPHA:329336
Cardiac-Valvular Ehlers-Danlos Syndrome
Mitral regurgitation, Left ventricular hypertrophy, Atrial septal defect, Abnormal heart valve mo... ORPHA:230851
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale, C... OMIM:618652
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardia... OMIM:614921
Kallmann Syndrome-Heart Disease Syndrome
Mitral regurgitation, Aortic regurgitation, Pulmonary insufficiency, Double outlet right ventricl... ORPHA:2326
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Aortic valve stenosis, Aortic regurgitation, Left ventricular hypert... OMIM:619698
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... OMIM:601005
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... ORPHA:37553
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, ST segment elevation, Prolonged QRS complex, Enlarged kidney, Increased myocardial ... OMIM:261740
Neuraminidase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256550
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Hepatomegal... OMIM:212138
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers... ORPHA:401768
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Atrial septal defect, Calf muscle hypertrophy, Skeletal muscle atrophy, Congen... OMIM:253800
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Lower limb muscle weakness, Cardiomyopathy, Foot dorsiflexor weakness, Generaliz... ORPHA:521411
Mucolipidosis Type Ii
Hepatosplenomegaly, Diastasis recti, Mitral regurgitation, Left ventricular hypertrophy, Cardiomy... ORPHA:576
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement, Bi... ORPHA:555877
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Hepatomegaly, Ragged-red muscle fibers, Hypertrophic cardiomyopathy OMIM:613561
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Hand muscle weakness, Cardiomyopathy, Muscle fiber atrophy, Scapular winging, Facial pa... ORPHA:254886
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hepatomegaly, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Apparent Mineralocorticoid Excess
Hypertension, Left ventricular hypertrophy ORPHA:320
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, A... ORPHA:324410
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic hand muscle atrophy... ORPHA:329478
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Increased variability in muscle fiber diameter ORPHA:70595
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Hypertension, Pericarditis ORPHA:767
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Mitral regurgitation, Restrictive cardiomyopathy, Patent foramen ovale, Flexion co... ORPHA:88630
Takayasu Arteritis
Pulmonary arterial hypertension, Vasculitis, Hypertension, Abnormal heart valve morphology, Cereb... ORPHA:3287
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Di... OMIM:615895
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized amyotrophy, Prolonged QT ... ORPHA:66634
Autosomal Dominant Progressive External Ophthalmoplegia
Shoulder girdle muscle weakness, Facial diplegia, Hypomimic face, Left ventricular hypertrophy, M... ORPHA:254892
American Trypanosomiasis
Myocarditis, Arrhythmia, Cardiomyopathy, Achalasia, Hepatomegaly, Congestive heart failure, Splen... ORPHA:3386
Mulibrey Nanism
Hepatomegaly, Congestive heart failure, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Reduced left ventricular ejection fraction, Hepatomegaly, Sudden... OMIM:201475
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Fabry Disease
Mitral regurgitation, Left ventricular hypertrophy, Telangiectasia of the skin, Arrhythmia, Hyper... ORPHA:324
Aorta Coarctation
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... ORPHA:1457
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cardiomyopathy, Nemaline bodies, Myopathy OMIM:616549
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Cardi... OMIM:616866
Glycogen Storage Disease Iv
Hepatosplenomegaly, Cardiomyopathy, Skeletal muscle atrophy, Portal hypertension, Arthrogryposis ... OMIM:232500
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... ORPHA:268
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... OMIM:619705
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Hypertrophic cardiomyopathy ORPHA:156
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Enlarged kidney, Arrhythmia, Knee flexion contracture, Hepato... OMIM:608836
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Left ventricular hypertrophy, Hypertension, Hepatomegaly, Lower limb hyperton... OMIM:619487
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Vasculitis, Heart murmur, Left ventricular hypertrophy, Lower limb muscle weakness,... ORPHA:365
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly ORPHA:79330
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Generalize... ORPHA:79279
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Palpitations, Hepatomegaly, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276556
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Leigh Syndrome With Cardiomyopathy
Mitral regurgitation, Pulmonic stenosis, Congestive heart failure, Cardiac conduction abnormality... ORPHA:70474
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy, Arrhythmia, Cardiomyopathy, Hepatomegaly, Ventricular hypertrophy ORPHA:228305
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy ORPHA:1215
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Left ventricular hypertrophy OMIM:619355
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Camptodactyly of finger, Arrhythmia, Hepatomegaly, Congestiv... ORPHA:1194
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Portal hypertension, Enlarged kidney, Hypertrophic cardiomyopathy OMIM:619902
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Hypertrophic cardiomyopathy OMIM:614582
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:71212
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Distal amyotrophy, EMG: myopathic abnormalit... OMIM:164310
Infantile Refsum Disease
Facial palsy, Cardiomyopathy, Hepatomegaly, Arrhythmia ORPHA:772
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Hepatomegaly, Abnormal cardiac ventricular function ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Hepatomegaly, Splenomegaly ORPHA:79312
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Palpitations, Hepatomegaly, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Myopathy, Sudden cardiac death, Hypertrophic car... OMIM:212350
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Fiber type grouping, Myopathy, Weakness of facial musculature, Skeletal mus... OMIM:607459
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Palpitations, Hepatomegaly, Hypertrophic cardiomyopathy, Tachycardia ORPHA:276580
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Alstrom Syndrome
Hypertension, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy OMIM:203800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Bradycardia, Ragged-red muscle fibers, ... OMIM:609286
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... ORPHA:216694
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Vici Syndrome
Myopathy, Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Congestive heart fa... OMIM:242840
Arterial Tortuosity Syndrome
Myocarditis, Cardiac arrest, Telangiectasia of the skin, Hypertension, Abnormal myocardium morpho... ORPHA:3342
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly OMIM:619046
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness OMIM:619259
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly ORPHA:42
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... ORPHA:98863
Melas
Abnormal mitochondria in muscle tissue, Pulmonary arterial hypertension, Concentric hypertrophic ... ORPHA:550
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Cardiomyopathy, Impaired myocardial contractility, Cardi... ORPHA:158687
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Rimmed vacuol... ORPHA:52430
Primary Lipodystrophy
Myopathy, Cardiomyopathy, Hypertension, Skeletal muscle hypertrophy, Angina pectoris, Congestive ... ORPHA:90970
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation, Left ventricular hypertrophy OMIM:617168
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the calf musculature, Coronary artery stenosis, Cardiomyopathy, Skeletal myopathy,... ORPHA:565612
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly, Hepatomegaly OMIM:255120
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Increased muscle glycogen content, Hypertrophic cardiomy... ORPHA:368
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:369
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Small thenar eminence, Pulmonic stenosis, Left ventricular hypertrophy OMIM:619148
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Combined Oxidative Phosphorylation Deficiency 3
Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Hepatomegaly, Patent foramen ovale, Dilat... OMIM:610505
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:70472
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Right ventricular failure, Syncope, Palpitation... ORPHA:70591
Dominant Beta-Thalassemia
Hepatosplenomegaly, High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hyp... ORPHA:231226
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Hepatomegaly, Myocardial infarction, Congestive heart failure, Orthosta... ORPHA:330001
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Hepatomegaly ORPHA:27
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Hepatomegaly, Aortic valve stenosis, ... OMIM:615415
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Mitral regurgitation, Atrial septal defect, Ventricular septal def... OMIM:620066
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Cardiac amyloidosis, Hypertension, Supravalvular aort... ORPHA:439232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mitral regurgitation, Weakness of facial musculature, Cardiomyopathy, Muscle fiber atrophy, Skele... OMIM:258450
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation OMIM:600721
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Hepatomegaly... ORPHA:465508
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy OMIM:619386
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Beta-Thalassemia Major
Hepatosplenomegaly, High-output congestive heart failure, Arrhythmia, Hepatomegaly, Dilated cardi... ORPHA:231214
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Hypertension, Right ventricular ... OMIM:178600
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Distal lower limb muscle weakness, Lower limb muscle weakness, Cardiomyopathy, Proximal muscle we... ORPHA:363623
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Weakness of facial musculature, Cardiomyopathy, Myopathy OMIM:201470
Ataxia With Vitamin E Deficiency
Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:96
Beta-Thalassemia