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Gene: Cap2 MGI:1914502

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Gene Summary

Name:
CAP, adenylate cyclase-associated protein, 2 (yeast)
Synonyms:
2810452G09Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged RR interval Cap2tm1b(EUCOMM)Wtsi HET Early adult 8.90×10-08
cataract Cap2tm1e(EUCOMM)Wtsi HET Early adult 6.07×10-07
decreased mean corpuscular hemoglobin Cap2tm1b(EUCOMM)Wtsi HET Early adult 4.76×10-13
preweaning lethality, incomplete penetrance Cap2tm1b(EUCOMM)Wtsi HOM   Early adult 2.92×10-05
increased red blood cell distribution width Cap2tm1b(EUCOMM)Wtsi HET Early adult 1.98×10-07
abnormal locomotor activation Cap2tm1e(EUCOMM)Wtsi HET Early adult 1.29×10-05
prolonged ST segment Cap2tm1b(EUCOMM)Wtsi HET Early adult 1.53×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Cap2 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 Cap2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154

The table below shows human diseases predicted to be associated to Cap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Cataract 44
Developmental cataract OMIM:616509
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cataract OMIM:617133
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased... OMIM:619040
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Aniridia 3
Cataract OMIM:617142
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive OMIM:613752
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... OMIM:616827
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Intrauterine growth retardation, Recurrent infections, Short stature, Dila... OMIM:618097
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Sudd... OMIM:610198
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Growth delay, Recurrent infections, Failure to thrive, Dilated cardiomyopathy, Eczema, Myalgia OMIM:615895
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy OMIM:602541
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618250
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Fa... OMIM:619048
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Failure to t... OMIM:302060
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Failure to thrive OMIM:610768
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Trichomegaly
Cataract OMIM:190330
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Developmental cataract, Corneal dystrophy OMIM:271320
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fi... OMIM:161800
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Obesity, Cardiogenic shock, Syncope, Decreased QR... ORPHA:66529
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Ankle flexion contracture, Weakness of the intrinsic... ORPHA:399103
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Sudden death, Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Sudden death, Subvalvular ao... OMIM:192600
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Obesity,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Obesity,... ORPHA:98853
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alph... OMIM:615351
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Overweight, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Pe... ORPHA:26793
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Combined Oxidative Phosphorylation Deficiency 17
Growth delay, Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy OMIM:615440
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Ethanolaminosis
Cardiomegaly OMIM:227150
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Hemochromatosis, Type 2A
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiom... OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Hepa... ORPHA:398124
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614582
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Cataract, Congesti... ORPHA:1345
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Dilated cardiomyopathy, Myopathy, W... ORPHA:352447
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Obesity OMIM:615981
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Nathalie Syndrome
Cataract ORPHA:2663
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Nathalie Syndrome
Cataract, Growth delay, Abnormal EKG OMIM:255990
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... OMIM:609286
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Abdominal pain, Congestive heart failure, Heart block, Syncope ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure, Intrauterine growth retardation OMIM:616198
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Hepatosplenomegaly, Cardio... OMIM:300842
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Galactosemia Iv
Cataract OMIM:618881
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Failure to thrive, Hypertrophic cardiomyopathy OMIM:617228
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Arrhythmia, Hypertension, Cataract, Congestive heart failure, ... ORPHA:225
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Reduced systolic function, Cataract, Microphthalmia, Pancreatitis, ... OMIM:618805
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hepatomegaly, Myoc... ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:2815
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... OMIM:300952
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Sandhoff Disease
Congestive heart failure, Recurrent respiratory infections, Failure to thrive ORPHA:796
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Abnormal left ventricular function, Pelvic girdle mu... OMIM:607155
Butyrylcholinesterase Deficiency
Myocardial infarction, Chronic infection, Congestive heart failure ORPHA:132
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Eosinophilia, Cardiogenic ... ORPHA:75565
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Hepatomegaly, Congestive heart failure, Fa... ORPHA:367
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Congestive heart failure OMIM:301021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Postexertional malaise, Ventricular fibrillation, Prolonged QTc interval, Torsade de ... ORPHA:90647
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Rhabdomyolysis, Congestive heart failure, Small for gestational age, Failure to thriv... OMIM:609015
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval ORPHA:2151
X-Linked Retinoschisis
Cataract ORPHA:792
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... OMIM:616812
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Lipodystrophy, Congenital Generalized, Type 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture, Atrial fibrillation, Hepato... OMIM:613327
Gombo Syndrome
Delayed puberty, Microphthalmia, Abnormal heart morphology OMIM:233270
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Cataract, Conjunctivitis, Prolonged Q... ORPHA:36913
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Cataract 47
Cataract, Microcornea OMIM:612018
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block OMIM:613158
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Facial palsy, Failure to thrive, Myopathy, Cardiomyopathy OMIM:201470
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardiac... OMIM:614921
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure, Failure to thrive, Intrauterine growth... OMIM:616045
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Drug-Induced Lupus Erythematosus
Arthralgia, Pericarditis, Pericardial effusion, Malar rash, Myalgia, Serositis, Prolonged QTc int... ORPHA:231111
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Galactosemia Ii
Cataract OMIM:230200
Aniridia 2
Cataract, Aniridia OMIM:617141
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Congestive heart failure, Abdominal pain OMIM:616794
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Melena, Anisocytosis, Anemia, Increased mean corpuscular volume,... ORPHA:98870
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Obesity OMIM:615418
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Rhabdomyolysis, Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Acute rhabdomy... OMIM:616878
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Large for gestational age, Microphthalmia OMIM:248110
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Failure to thrive, Hypertrophic cardiomyopathy ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Cardiomyopathy, Increased muscle lipid content OMIM:610717
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Developmental cataract, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular fun... OMIM:540000
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Mulibrey Nanism
Myocardial fibrosis, Growth delay, Iris coloboma, Congestive heart failure, Cardiomegaly, Short s... OMIM:253250
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy ORPHA:91130
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Achilles tendon contracture, Distal ... ORPHA:254361
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Ischemic stroke, Hypertension ORPHA:280679
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Bradycardia OMIM:614498
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Scapular winging, Prominent U wave, Bidirectional ventricular ectopy, Prolonged QT ... OMIM:170390
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Hec Syndrome
Developmental cataract, Arrhythmia, Endocardial fibroelastosis, Abnormal pupil morphology, Cardio... ORPHA:2119
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging... ORPHA:171439
Vici Syndrome
Developmental cataract, Recurrent fungal infections, Growth delay, Ocular albinism, Recurrent vir... OMIM:242840
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Paroxysmal atrial fibrillation, Weight loss, Autophagic vacuoles, D... OMIM:164310
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension, Obesity OMIM:615703
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia, Large for gestational age, Recurrent respiratory in... ORPHA:2432
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dilated cardi... ORPHA:401923
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Mitral valve prolapse, Dilated cardiomyopathy OMIM:145350
Thyrotoxic Periodic Paralysis
Palpitations, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower ... ORPHA:79102
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Small for gestational age, Bradycardia, Hypertro... OMIM:618775
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Abnormal left ventricle morphology OMIM:300845
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Cachexia, Arrhythmia ORPHA:157973
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Babesiosis
Arthralgia, Myocardial infarction, Congestive heart failure, Recurrent infections, Recurrent phar... ORPHA:108
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Growth delay, Abnormal aortic valve morphology, Abnormal pulmonary valve morphology, ... ORPHA:1194
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia, Failure to thrive OMIM:614407
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Conotruncal defect, Bradycardia, Atrioventricular canal defect ORPHA:40366
Pseudohypoparathyroidism Type 1B
Cataract, Conjunctivitis, Prolonged QT interval, Short stature, Chest pain ORPHA:94089
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Rett Syndrome
Abnormal T-wave, Cachexia, Prolonged QTc interval, Skeletal muscle atrophy OMIM:312750
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Hemochromatosis, Type 4
Arthralgia, Arrhythmia, Cataract, Fatigue, Osteoarthritis, Cardiomyopathy OMIM:606069
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy, Failure to thrive ORPHA:26792
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614702
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Small for gestational age, Shock, Bradycardia ORPHA:391673
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Lower limb hypertonia, Lower limb muscle weakness, Abnormal EKG ORPHA:1177
Wild Type Abeta2M Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Shoulder pain, Pain, Arthritis, Congestive heart failure... ORPHA:85446
Proximal Spinal Muscular Atrophy
Atrial septal defect, Facial diplegia, Flexion contracture, Quadriceps muscle weakness, Triceps w... ORPHA:70
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Increased muscle lipid content, Enlarged kidney, ... OMIM:608836
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
American Trypanosomiasis
Skin rash, Arrhythmia, Abdominal pain, Achalasia, Congestive heart failure, Encephalitis, Myocard... ORPHA:3386
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden c... OMIM:224700
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Hepatomegaly, Tachycardia, Large for gestational age, Hypertrophic cardiom... ORPHA:276556
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Cardiomyopathy, Splenomegaly OMIM:608540
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Gitelman Syndrome
Palpitations, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval, Failur... OMIM:263800
Cataract 43
Subcapsular cataract OMIM:616279
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Glutamine Deficiency, Congenital
Neonatal death, Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Recessive Mitochondrial Ataxia Syndrome