Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ribosomal protein SA
Synonyms:
67lr,  Lamr1,  Lamrl1,  Lamr,  P40-3,  P40-8

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rpsa 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 Rpsa by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400

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

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613690
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Left atrial enlargement, Systolic anterior motion of the ... OMIM:619402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle morpholog... ORPHA:1055
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... OMIM:614954
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Anemia, Abnormal hemoglobin ORPHA:3319
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... OMIM:224700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... OMIM:600996
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressure, Pulmonary ... ORPHA:422
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Ebstein anomaly of the t... ORPHA:1880
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Ventricular septal hypertrophy, C... ORPHA:263297
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ventricular hypertrophy, Atrioventric... OMIM:115197
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... ORPHA:1330
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... ORPHA:99104
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... ORPHA:848
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Wolff-Parkinson-White syndr... OMIM:540000
Dystonia 23
Arrhythmia OMIM:614860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Arrhythmia OMIM:617021
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Wolff-Par... OMIM:300257
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... ORPHA:1677
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Tricuspid regurgitation, Pulmonic stenosis, Abnormal heart valve morpholog... ORPHA:228410
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Arrhythmia, Sudden cardiac death OMIM:181350
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... ORPHA:75249
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Patent forame... ORPHA:542306
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Co... ORPHA:1686
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia, Growth delay OMIM:250800
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Idiopathic Pulmonary Arterial Hypertension
Syncope, Right ventricular hypertrophy, Palpitations, Pulmonary arterial hypertension, Tricuspid ... ORPHA:275766
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Congestive heart... OMIM:302060
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Cirrhotic Cardiomyopathy
Left atrial enlargement, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrh... ORPHA:57777
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Leukocytosis, Elevated hepatic iron concentration, Hepatocellul... ORPHA:231222
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Dominant Beta-Thalassemia
Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Gr... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:231214
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... ORPHA:91131
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Abnormal heart morphology, Atrioventricular block,... ORPHA:398124
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Acquired Methemoglobinemia
Palpitations, Syncope, Arrhythmia, Tachycardia ORPHA:464453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Abnormal left ventricular function, Arrhythmia OMIM:618098
Diamond-Blackfan Anemia 6
Growth delay, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Abnormal mitral valve morpholo... ORPHA:732
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Congestive heart failure, Abnormal... ORPHA:1194
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Microcytic anemia, HbH hemoglobin, Short stature ORPHA:98791
Rheumatic Fever
Myocarditis, Pericarditis, Endocarditis, Abnormal aortic valve morphology, Abnormal mitral valve ... ORPHA:3099
Refsum Disease, Classic
Congestive heart failure, Arrhythmia, Cardiomegaly, Cardiomyopathy OMIM:266500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia ORPHA:230839
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Mitral stenosis, Atrial septal de... ORPHA:2847
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Arrhythmia ORPHA:99745
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Hemochromatosis, Type 1
Telangiectasia, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:235200
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Short stature, Anemia, Persistence of hemoglobin F, ... OMIM:260400
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Fabry Disease
Hypertension, Ventricular septal hypertrophy, Left ventricular hypertrophy, Myocardial infarction... OMIM:301500
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hydrops Fetalis
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Capillary leak ORPHA:1041
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Short stature, Cryptorchidism,... OMIM:141750
American Trypanosomiasis
Myocarditis, Arrhythmia, Congestive heart failure, Cardiomyopathy ORPHA:3386
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pul... ORPHA:363705
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Arrhythmia, Pulmonic stenosis OMIM:611553
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Left anterior fascicular block, Abnormal cardiac septum morphology, Abnormal left v... ORPHA:437572
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Infantile Refsum Disease
Arrhythmia, Cardiomyopathy ORPHA:772
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Abnormal hea... ORPHA:85443
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Mitral valve prolapse, Abnormal mit... ORPHA:500
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... ORPHA:100077
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Tetralogy of Fallot, Arrhythmia OMIM:153400
Systemic Capillary Leak Syndrome
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:188
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... ORPHA:97214
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Arrhythmia, Cardiomyopathy ORPHA:228305
Ogden Syndrome
Premature ventricular contraction, Ventricular septal defect, Ventricular tachycardia, Torsade de... OMIM:300855
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Arrhythmia ORPHA:42
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... ORPHA:70591
Kearns-Sayre Syndrome
Third degree atrioventricular block, Arrhythmia, Cardiomyopathy OMIM:530000
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Growth delay, Postnatal growth... OMIM:301040
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Left ventricular hypertrophy, Cong... ORPHA:746
Ogden Syndrome
Ventricular septal defect, Arrhythmia, Cardiogenic shock ORPHA:276432
Symptomatic Form Of Hemochromatosis Type 1
Elevated jugular venous pressure, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Portal ... ORPHA:465508
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Palpitations, Low-output congestive heart failure, Cardiomyopathy, Abno... ORPHA:565612
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Arrhythmia, Cardiomyopathy, Hypotension ORPHA:159
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Arrhythmia, Hypotension ORPHA:549
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Melena, Pulmonic stenosis, Cardiogen... ORPHA:100076
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Cryptorchidism, Abnormal hemoglobin, Short stature ORPHA:847
Microscopic Polyangiitis
Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Vasculitis, Congestive heart failure, Arrhy... ORPHA:727
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:609015
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension ORPHA:31824
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Congenital Hypothyroidism
Hypertension, Arrhythmia, Abnormal pericardium morphology, Hypotension ORPHA:442
Juvenile Dermatomyositis
Pericarditis, Telangiectasia of the skin, Cardiomyopathy, Bundle branch block, Gastrointestinal h... ORPHA:93672
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Mitral regurgitation,... ORPHA:324
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Delayed eruption of teeth, D... ORPHA:330015
Leber Optic Atrophy
Arrhythmia OMIM:535000
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Abnormal heart morphology, Arrhythmia, Cardiomyopathy ORPHA:26791
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Arrhythmia OMIM:619184
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Antenatal intracerebral hemorrhage OMIM:608836
Botulism
Arrhythmia ORPHA:1267
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Carney Triad
Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia ORPHA:139411
Mastocytosis
Gastrointestinal hemorrhage, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:98292
Foodborne Botulism
Arrhythmia ORPHA:228371
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Cardiomyopathy, Heart block, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... ORPHA:254892
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia ORPHA:261494
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Atrial septal defect, Overriding aorta, A... OMIM:309801
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Mgat2-Cdg
Reflex asystolic syncope, Abnormal heart morphology, Ventricular septal defect, Arrhythmia ORPHA:79329
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Abnormal left ven... ORPHA:892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia OMIM:610131
Kniest-Like Dysplasia, Lethal
Atrial septal defect, Arrhythmia OMIM:245190
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Agel Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy ORPHA:85448
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Dermatomyositis
Myocarditis, Pericarditis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myocardia... ORPHA:221
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiomyopathy, Cardiac conduction abnormality ORPHA:2131
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Kawasaki Disease
Myocarditis, Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal def... ORPHA:2331
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Cardiomyopathy ORPHA:157
Pagod Syndrome
Sudden cardiac death, Situs inversus totalis, Hypoplastic left heart, Arrhythmia ORPHA:991
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia ORPHA:3138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Arrhythmia, Cardiomyopathy, Pulmonary arterial hypertension ORPHA:258
Granulomatosis With Polyangiitis
Hypertension, Pericarditis, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral ischemia, Ga... ORPHA:900
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Mucopolysaccharidosis Type 2
Hypertension, Abnormal mitral valve morphology, Abnormal heart morphology, Abnormal tricuspid val... ORPHA:580
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Vasculitis, Sudden cardi... ORPHA:906
Ivic Syndrome
Arrhythmia ORPHA:2307
Oculodentodigital Dysplasia
Ventricular septal defect, Arrhythmia ORPHA:2710
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Cardiomyopat... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Cardiomyopat... ORPHA:217093
Familial Mediterranean Fever
Myocardial infarction, Vasculitis, Pericarditis, Arrhythmia ORPHA:342
Holoprosencephaly
Abnormal pulmonary valve morphology, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia ORPHA:2162
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Mitral regurgitation,... ORPHA:2556
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Arrhythmia ORPHA:1519
Leptospirosis
Pericarditis, Retinal hemorrhage, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree ... ORPHA:509
Noonan Syndrome
Abnormal pulmonary valve morphology, Arrhythmia ORPHA:648
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia ORPHA:68
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis,... OMIM:218040
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Arrhythmia OMIM:250220
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia OMIM:181450
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Second degree atrioventricular bl... ORPHA:3385
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Plague
Endocarditis, Tachycardia, Hematemesis, Arrhythmia, Hypotension ORPHA:707
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Cardiomegaly, Congestive heart failure OMIM:256040
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Right ventricular hypertrophy, Total anomalous pulmonary venous return... OMIM:312870
Stickler Syndrome
Mitral valve prolapse, Arrhythmia ORPHA:828
Sarcoidosis
Abnormal cardiac ventricular function, Ventricular tachycardia, Heart block, Portal hypertension,... ORPHA:797
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Atrial septal defect, Arrhythmia OMIM:180849
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia ORPHA:285

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 Rpsa

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 Rpsa.

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

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MGI Allele Allele Type Produced
Rpsatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpsatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rpsatm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rpsatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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