banner
Genes Phenotypes Help, News, Blog

Gene: Rpsa MGI:105381

Log in to follow
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

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 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
Asplenia, Howell-Jolly bodies, Thrombocytosis 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, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
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, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Atrial Standstill 1
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... OMIM:108770
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Nathalie Syndrome
Arrhythmia ORPHA:2663
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Atrial Septal Defect 6
Atrial septal defect, Bradycardia, Atrial fibrillation OMIM:613087
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 28
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... OMIM:619402
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... ORPHA:1055
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... OMIM:616201
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Short stature ORPHA:3319
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... OMIM:615616
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... OMIM:615248
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Cerebral ischemia, ... ORPHA:1880
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... OMIM:613507
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... ORPHA:1330
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... ORPHA:263297
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Interstitial cardiac fibrosis, Reduced left ventricular ejection fraction, ... OMIM:181350
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur... OMIM:613673
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmo... OMIM:620067
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia ORPHA:85447
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Dystonia 23
Arrhythmia OMIM:614860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Hypertension, Arrhythmia OMIM:617021
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... OMIM:540000
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... ORPHA:99104
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... OMIM:300946
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... ORPHA:228410
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... ORPHA:3093
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Hemochromatosis, Type 2A
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:602390
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia OMIM:250800
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly ORPHA:163596
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Elevated hepatic ... ORPHA:231222
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy OMIM:249270
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus... ORPHA:231226
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... ORPHA:231214
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... ORPHA:275766
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Hec Syndrome
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia ORPHA:2119
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... ORPHA:99094
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Arrhythmia OMIM:616298
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... ORPHA:91131
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... ORPHA:398124
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Growth delay, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Polymyositis
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,... ORPHA:732
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Short stature, Microcytic anemia, Cryptorchidism ORPHA:98791
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal aortic valve morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal... ORPHA:1194
Rheumatic Fever
Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pericarditis, E... ORPHA:3099
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Arrhythmia OMIM:618098
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Arrhythmia ORPHA:3191
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia OMIM:266500
Hydrops Fetalis
Pericardial effusion, Abnormal heart morphology, Capillary leak, Arrhythmia ORPHA:1041
Typhoid
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99745
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Arrhythmia, Cardiomegaly, Cardiomyopathy OMIM:235200
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Persistence of hemoglobin F, Hepatom... OMIM:260400
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... OMIM:617877
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Fabry Disease
Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, Angina pectori... OMIM:301500
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Prolonged neonatal jaundice, Intrauterine growth retardation, Short stature ORPHA:423479
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Al Amyloidosis
Reduced left ventricular ejection fraction, Abnormal EKG, Monoclonal light chain cardiac amyloido... ORPHA:85443
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Barth Syndrome
Endocardial fibroelastosis, Congestive heart failure, Increased left ventricular end-diastolic vo... OMIM:302060
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Cardiomegaly, Persistent fetal circulation, Ventricular septal d... ORPHA:363705
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Heart murmur, Hypertension, Abnormal left ventricular functio... ORPHA:437572
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Arrhythmia OMIM:611553
American Trypanosomiasis
Cardiomyopathy, Myocarditis, Congestive heart failure, Arrhythmia ORPHA:3386
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... ORPHA:542323
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Autoimmune Hemolytic Anemia
Congestive heart failure, Arrhythmia ORPHA:98375
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Persistence of hemoglobin F OMIM:617101
Systemic Capillary Leak Syndrome
Hypotension, Myocarditis, Pericarditis, Arrhythmia ORPHA:188
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Abnormal mitral valve morphology, Bundle branch block, Mitral valv... ORPHA:500
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Ileal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... ORPHA:100077
Familial Multiple Nevi Flammei
Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Ventricular hypertrophy, Arrhythmia ORPHA:228305
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Arrhythmia ORPHA:42
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Mitral regurgitation, Arrh... ORPHA:254346
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Short stature, Pure red cell aplasia, Eryt... ORPHA:124
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia ORPHA:159
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Angina pectoris, Abnormal cardiomyocyte morphology, Low-output congesti... ORPHA:565612
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Arrhythmia ORPHA:276432
Lead Poisoning
Abnormal T cell morphology, Anemia, Delayed eruption of teeth, Delayed puberty, Imbalanced hemogl... ORPHA:330015
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Persistence of hemoglobin F OMIM:619769
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Left ventricular hypertrophy, Congestive heart failure, Mitral regurgita... ORPHA:746
Symptomatic Form Of Hemochromatosis Type 1
Elevated jugular venous pressure, Congestive heart failure, Arrhythmia, Cardiomegaly, Portal hype... ORPHA:465508
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Left bundle branch block, Ventricular bigeminy, Arrhythmia OMIM:610131
Legionnaires Disease
Hypotension, Endocarditis, Pericarditis, Arrhythmia, Myocarditis ORPHA:549
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Microscopic Polyangiitis
Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Vascu... ORPHA:727
Duodenal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpitations, Tricuspid st... ORPHA:100076
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Growth delay, ... OMIM:301040
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Short stature, Cryptorchidism ORPHA:847
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Juvenile Dermatomyositis
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... ORPHA:93672
Fabry Disease
Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia of the sk... ORPHA:324
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis ORPHA:31824
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Cerebral ischemia, Arrhythmia ORPHA:60040
Leber Optic Atrophy
Arrhythmia OMIM:535000
Giant Cell Arteritis
Sudden cardiac death, Cerebral ischemia, Epistaxis, Pericarditis, Arrhythmia, Double outlet right... ORPHA:397
Congenital Hypothyroidism
Hypotension, Abnormal pericardium morphology, Hypertension, Arrhythmia ORPHA:442
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Abnormal heart morphology, Congestive heart failure, Arrhythmia ORPHA:26791
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Patent foramen ovale, Atrial septal defect, Arrhythmia OMIM:619184
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Botulism
Arrhythmia ORPHA:1267
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Arrhythmia, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Foodborne Botulism
Arrhythmia ORPHA:228371
Mastocytosis
Hypotension, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia ORPHA:98292
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Junctional ectopic ... OMIM:309801
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Left ventricular hypertrophy,... ORPHA:254892
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia OMIM:608836
Kleefstra Syndrome
Bicuspid aortic valve, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia ORPHA:261494
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Mgat2-Cdg
Abnormal heart morphology, Reflex asystolic syncope, Ventricular septal defect, Arrhythmia ORPHA:79329
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arrhythmia OMIM:153400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Von Hippel-Lindau Disease
Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitations, Arrhythmia... ORPHA:892
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Arrhythmia ORPHA:85448
Ogden Syndrome
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Patent foramen... OMIM:300855
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Bradycardia, Tach... ORPHA:94093
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Hennekam-Beemer Syndrome
Hypotension, Telangiectasia of the skin, Arrhythmia ORPHA:2135
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Localized Scleroderma
Vasculitis, Raynaud phenomenon, Arrhythmia ORPHA:90289
Dermatomyositis
Pulmonary arterial hypertension, Sinus tachycardia, Telangiectasia of the skin, Pericarditis, Myo... ORPHA:221
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Cardiomyopathy, Reduced left ventricular ejection fraction, Arrh... ORPHA:258
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia ORPHA:3138
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Pagod Syndrome
Sudden cardiac death, Situs inversus totalis, Hypoplastic left heart, Arrhythmia ORPHA:991
Oculodentodigital Dysplasia
Ventricular septal defect, Arrhythmia ORPHA:2710
Wiskott-Aldrich Syndrome
Sudden cardiac death, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, Arrhythmia, Hemate... ORPHA:906
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Granulomatosis With Polyangiitis
Cerebral ischemia, Angina pectoris, Hypertension, Pericarditis, Epistaxis, Gastrointestinal hemor... ORPHA:900
Ivic Syndrome
Arrhythmia ORPHA:2307
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Hypertension, Abnormal pulmonary valve morphology, Abnormal hea... ORPHA:580
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia ORPHA:2874
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Heart murmur, Hypertension, Abnormal pulmonary valve morphology... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Heart murmur, Hypertension, Abnormal pulmonary valve morphology... ORPHA:217093
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Arrhythmia ORPHA:342
Holoprosencephaly
Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Arrhythmia ORPHA:2162
Microphthalmia With Linear Skin Defects Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse, Dilated cardiomyopathy, Hypertrophic c... ORPHA:2556
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Arrhythmia ORPHA:1519
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Subconjunctival ... ORPHA:509
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:218040
Noonan Syndrome
Abnormal pulmonary valve morphology, Arrhythmia ORPHA:648
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia ORPHA:68
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Arrhythmia OMIM:250220
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
African Trypanosomiasis
Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Pericarditis, Arrhyt... ORPHA:3385
Plague
Hypotension, Endocarditis, Arrhythmia, Hematemesis, Tachycardia ORPHA:707
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Congestive heart failure, Arrhythmia OMIM:256040
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Total anoma... OMIM:312870
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia OMIM:181450
Stickler Syndrome
Mitral valve prolapse, Arrhythmia ORPHA:828
Sarcoidosis
Abnormal cardiac ventricular function, Heart block, Ventricular tachycardia, Arrhythmia, Portal h... ORPHA:797
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.

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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter