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Gene: Hnrnpa1 MGI:104820

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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:
heterogeneous nuclear ribonucleoprotein A1
Synonyms:
hnrnp-A,  D15Ertd119e,  Hnrpa1,  Hdp

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 Hnrnpa1 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 Hnrnpa1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Xerostomia ORPHA:803

The table below shows human diseases predicted to be associated to Hnrnpa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Nathalie Syndrome
Abnormal EKG OMIM:255990
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cardiomyopathy, Dilated, 2C
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... OMIM:618189
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Death in infancy, Tented upper lip vermilion, Left atrial enlargement, Left ventricular noncompac... OMIM:619424
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycard... OMIM:618815
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, High palate, Type 1 muscle fiber pred... OMIM:161800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge... ORPHA:308552
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal lef... OMIM:607155
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Cardiomyopathy, Dilated, 2E
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... OMIM:619492
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:98853
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... OMIM:607598
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, D... OMIM:620265
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Nephrolithiasis, Myopathy, Generalized amyotrop... ORPHA:352447
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Ketonuria, Dilated cardiomyopathy... OMIM:619167
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, 3-Methylglutaconic aciduria, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated ... OMIM:620300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:618348
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, High palate,... OMIM:617336
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst... ORPHA:365
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Prominent U wave, Abnorma... ORPHA:37553
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, High, narrow palate, Flexion contracture, Cardiomyopathy, ... ORPHA:171433
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Tooth agenesis, Syncope, Gingival recession OMIM:615821
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Long philtrum ORPHA:280679
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F... ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Methylmalonic aciduria, El... OMIM:248360
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Death ... OMIM:611126
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... OMIM:620152
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... OMIM:605676
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnorm... OMIM:613390
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Death in childhood, Neonatal death, Increased variability in muscl... OMIM:619334
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short lingual frenulum, Congestive heart failure, Midgut malrotation, Dilat... ORPHA:2326
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:300842
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Myoglobinuria, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhyt... OMIM:609015
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarboxylic aciduria, Ca... OMIM:608836
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic c... ORPHA:254913
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyo... ORPHA:66634
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria OMIM:231530
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Gm1-Gangliosidosis, Type I
Death in infancy, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopat... OMIM:230500
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Tularemia
Tachycardia ORPHA:3392
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... OMIM:164310
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Centrally nucleated ske... OMIM:607459
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypertension, Lo... OMIM:300845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,... ORPHA:70595
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Fatty ... ORPHA:329478
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Wide mouth, Mitral regurgitation, High palate,... ORPHA:261250
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Hypospadias, Dilated cardiomyopathy, Cleft palate, Microdontia OMIM:603736
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubula... OMIM:614922
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... ORPHA:89842
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... OMIM:615895
Melas
Wolff-Parkinson-White syndrome, Proteinuria, Intestinal pseudo-obstruction, Cardiac conduction ab... ORPHA:550
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... ORPHA:254892
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Abnormality of the dentition, Esophageal stricture, Dilated cardiomyopathy, O... OMIM:613989
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Congestive heart failure, Dilated... OMIM:242840
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Lethal Congenital Contracture Syndrome 1
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... OMIM:253310
Alstrom Syndrome
Renal insufficiency, Abnormality of the dentition, Congestive heart failure, Dilated cardiomyopat... OMIM:203800
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Illum Syndrome
Bradycardia OMIM:208155
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Death in childhood OMIM:618321
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... OMIM:608978
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Congestive hear... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy,... OMIM:610505
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Tooth malposition, Renal hypop... OMIM:616541
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Dilated cardiomyopathy, Bradycardia OMIM:610768
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... ORPHA:422
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Abnormality of the dentition, High-output congestive heart failure... ORPHA:231226
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Rhabdomyolysis OMIM:602199
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Dilated cardiomyop... ORPHA:79282
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypertrophic... ORPHA:71212
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Beta-Thalassemia Major
Hypoplasia of the musculature, Abnormality of the dentition, High-output congestive heart failure... ORPHA:231214
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Erosion of oral mucosa, Foot joint contracture, Glomerul... ORPHA:79408
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... ORPHA:73224
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Graft Versus Host Disease
Tachycardia ORPHA:39812
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, Lacticaciduria,... ORPHA:255210
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Abnormal dental enamel morpholog... ORPHA:2556
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Mirizzi Syndrome
Tachycardia ORPHA:521219
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Sweet Syndrome
Inflammation of the large intestine, Small vessel vasculitis, Dilated cardiomyopathy, Myositis ORPHA:3243
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Erosion of oral mucosa, Dysuria, A... ORPHA:79404
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Cardiac arrest, Dilated cardiomyopathy, 3-Methylglutaric aciduria, Hypotension ORPHA:20
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Dilated cardiomyopathy, Cleft pal... OMIM:619573
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Aphthous ulcer, Vasculitis, Dilated cardiomyopathy, Oral... OMIM:615688
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Camptodactyly of finger, Pylor... ORPHA:1606
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... OMIM:607872
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... ORPHA:565612
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Hydronephrosis, Neonatal death, Microcolon OMIM:619362
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... ORPHA:280365
Ogden Syndrome
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... OMIM:300855
Johanson-Blizzard Syndrome
Colonic diverticula, Ventricular septal defect, Hypospadias, Portal hypertension, Urethrovaginal ... OMIM:243800
Choreoacanthocytosis
Protruding tongue, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Distal amyotrophy, ... ORPHA:2388
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Degcags Syndrome
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis OMIM:619488
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Alström Syndrome
Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Gingivi... ORPHA:64
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Xerostomia ORPHA:803

Histopathology

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

There is no histopathology data for Hnrnpa1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hnrnpa1.

No publications found that use IMPC mice or data for Hnrnpa1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hnrnpa1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hnrnpa1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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