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Gene: Cxadr MGI:1201679

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Gene Summary

Name:
coxsackie virus and adenovirus receptor
Synonyms:
MCVADR,  MCAR,  CAR,  2610206D03Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Cxadrem1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Cxadrem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Cxadrem1(IMPC)Mbp HOM   Early adult 0.00
abnormal neural tube morphology Cxadrem1(IMPC)Mbp HOM E9.5 0.00
small kidney Cxadrem1(IMPC)Mbp HET Early adult 0.00
small spleen Cxadrem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Cxadrem1(IMPC)Mbp HOM E9.5 0.00
abnormal liver morphology Cxadrem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Cxadrem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Cxadrem1(IMPC)Mbp HET Early adult 0.00
abnormal stomach morphology Cxadrem1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

25 Images

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Gross Morphology Embryo E14.5-E15.5

Images

2 Images

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Human diseases caused by Cxadr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Ethanolaminosis
Cardiomegaly OMIM:227150
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pu... ORPHA:199241
Nathalie Syndrome
Abnormal EKG OMIM:255990
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... ORPHA:2038
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... ORPHA:1041
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... ORPHA:2041
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis OMIM:613490
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis ORPHA:664
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number ORPHA:352470
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... ORPHA:330001
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... ORPHA:234
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Gener... ORPHA:352447
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion ORPHA:91130
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, Endocardial fibroel... OMIM:302060
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Enterovirus Infection
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... OMIM:615578
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... OMIM:619518
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Renal insufficiency, Unilateral renal agenesis, Acute leukemia ORPHA:281090
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Abnormal mitochondrial shape, Hypoglycemia, Patent ductus arteriosus, Ra... ORPHA:17
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... ORPHA:36412
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... OMIM:239850
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... OMIM:208000
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin... OMIM:618250
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a... ORPHA:75249
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... ORPHA:1677
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Polyhyd... OMIM:620070
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Increased blood pre... OMIM:619487
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Prolonged QTc interval, Increased QRS voltage OMIM:619040
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Pediatric Systemic Lupus Erythematosus
Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat... OMIM:212140
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Neuraminidase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardio... OMIM:256550
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Pulmonary arterial hypertensio... ORPHA:77259
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Gracile Bone Dysplasia
Asplenia, Micropenis, Ankyloglossia, Hypoplastic spleen OMIM:602361
Congenital Sialidosis Type 2
Abnormal EKG, Edema, Abnormal heart morphology, Telangiectasia, Ascites ORPHA:93400
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly OMIM:269920
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Abnormality of... ORPHA:2538
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Low-to-normal blood pressure, Sy... ORPHA:358
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular... ORPHA:70591
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... ORPHA:480536
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... ORPHA:379
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope ORPHA:230
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy OMIM:212065
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia OMIM:185070
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion ORPHA:464329
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Mirage Syndrome
Hypospadias, Thrombocytopenia, Esophageal stricture, Leukopenia, Gastroesophageal reflux, Microph... OMIM:617053
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... ORPHA:77261
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... ORPHA:220460
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... OMIM:602782
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Alg9-Cdg
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Hydrops fetalis, Abnorm... ORPHA:79328
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr... OMIM:175200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos... ORPHA:699
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... ORPHA:512
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Aicardi-Goutieres Syndrome 7
Edema, Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Hypertension, Hypertrophic ca... OMIM:615846
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly OMIM:613320
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Sandhoff Disease
Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Epistaxis, Edema ORPHA:167
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Mitochondrial swelling, Polyhydramnios OMIM:606812
Hennekam Syndrome
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom... OMIM:614921
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Edema, Congestive heart failure... ORPHA:466677
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis ORPHA:1272
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplastic spleen, Pelvic kidney, Hyd... OMIM:601186
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... OMIM:256300
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites ORPHA:538
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ... ORPHA:465508
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Stroke OMIM:603903
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Renal cyst, Gastric adenocarcinoma OMIM:617100
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... ORPHA:365
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Py... ORPHA:93111
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... OMIM:139210
Amyloidosis, Hereditary, Transthyretin-Related
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... OMIM:105210
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Polyhydramnios, Cardiomegaly, Pericard... ORPHA:51608
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Congenital Tracheal Stenosis
Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... ORPHA:79403
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... OMIM:608013
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherry red spot of t... OMIM:230000
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia ORPHA:96191
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Congestive heart... OMIM:252500
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... ORPHA:158684
Ogden Syndrome
Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr... OMIM:300855
Knobloch Syndrome
Vesicoureteral reflux, Lymphangioma, Bifid ureter, Pyloric stenosis ORPHA:1571
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... OMIM:130650
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aor... ORPHA:51
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness ORPHA:14
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardial infarction... ORPHA:904
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... ORPHA:79318
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Conge... OMIM:256040
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... ORPHA:116
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Polyhydramnios, Cardiomyop... ORPHA:373
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve ORPHA:1772
Dpagt1-Cdg
Intracranial hemorrhage, Anasarca, Prolonged QT interval ORPHA:86309
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99226
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Dehydration, Melena, Hypertension ORPHA:652
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143

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 Cxadr

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 Cxadr.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cxadrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cxadrem1(IMPC)Mbp Exon Deletion Mice, Tissue
Cxadrtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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