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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 Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Cxadrem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Cxadrem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Cxadrem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Cxadrem1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube morphology Cxadrem1(IMPC)Mbp HOM E9.5 0.00
small spleen Cxadrem1(IMPC)Mbp HET Early adult 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 liver 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

Download data as:  TSV  XLS

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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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Gross Morphology Embryo E9.5

Images

25 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 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
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... 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, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump bleeding, ... ORPHA:79
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Ethanolaminosis
Cardiomegaly OMIM:227150
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Hydrops fetalis, Reduced left ventric... ORPHA:45452
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Barth Syndrome
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e... ORPHA:199241
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Pulmonary Arteriovenous Malformation
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Bacterial endocarditis, Pleural empyem... ORPHA:2038
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Abnormal mitochondria... OMIM:618378
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular... OMIM:613490
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Hsd10 Mitochondrial Disease
Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Descend... ORPHA:229
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio... ORPHA:75565
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Increased en... OMIM:602541
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Abnormal mitochondrial morphology, Lower li... ORPHA:99013
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Wild Type Attr Amyloidosis
Pulmonary edema, Congestive heart failure, Myocardial infarction, Bradycardia, Atrial fibrillatio... ORPHA:330001
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir... ORPHA:64743
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number ORPHA:352470
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Familial Atrial Myxoma
Congestive heart failure, Dilatation of the cerebral artery, Vascular dilatation, Bacterial endoc... ORPHA:615
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Decreased activity of mitochondr... OMIM:500013
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of fac... ORPHA:352447
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... ORPHA:157798
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Hemothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumo... OMIM:130050
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Peripheral edema, Elevated pulmonary artery pressure, P... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Polyhydramnios, Persistent fetal circulati... ORPHA:363705
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o... ORPHA:397744
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, Hypotension, Peri... ORPHA:292
Barth Syndrome
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, Dilated cardio... OMIM:302060
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Oligohydramnios, S... OMIM:615578
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal ... OMIM:619518
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Congenital hypertrophy of left ventricle... OMIM:239850
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs... OMIM:261000
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Generalized arterial calcification... OMIM:208000
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Ragged-red muscle fibers, Abnormal mitochondrial shape, Patent foramen ... ORPHA:17
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal cardiac... ORPHA:85443
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Atrial septal defect, Polyhydramnios, Multiple muscular ventricular septal ... OMIM:620070
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Hypertension, Pleural effusion ORPHA:79126
Absence Of The Pulmonary Artery
Pulmonary edema, Congestive heart failure, Atrial flutter, Reduced left ventricular ejection frac... ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling, Abnormal heart morphology,... OMIM:618250
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Pulmonary arterial hypertension, Total anomalous ... OMIM:106700
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericarditis, Pericardial e... OMIM:619487
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Ca... OMIM:300280
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Left ventricular hypertrophy OMIM:619040
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte... ORPHA:185
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop... OMIM:212140
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cher... OMIM:256550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... OMIM:300048
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Edema ORPHA:90362
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Hematochezia, Anasarca OMIM:618183
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ... OMIM:620294
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Muscular edema, Right bundle branch block, Right vent... ORPHA:268
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Ankyloglossia, Asplenia OMIM:602361
Congenital Sialidosis Type 2
Ascites, Abnormal heart morphology, Edema, Abnormal EKG, Telangiectasia ORPHA:93400
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Syncope, Right bundle branch b... ORPHA:70591
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Atrial septal defe... OMIM:610198
Dextrocardia
Situs inversus totalis, Dextrocardia, Abnormal heart morphology, T-wave inversion, Abnormal EKG ORPHA:1666
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... ORPHA:2538
Q Fever
Myocarditis, Abnormal left ventricular function, Abnormal heart valve morphology, Vasculitis, Ple... ORPHA:781
Gaucher Disease, Type Iiic
Calcification of the aorta, Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomega... OMIM:231005
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Pleural effusion OMIM:617822
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Lymphedema, Pleural effusion, Pericardial effusion, Nonimmune hydro... OMIM:235510
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Poems Syndrome
Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Per... ORPHA:358
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pulmonary arterial h... OMIM:615343
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericarditis, Pericardial effusion, Nonimmune hydrops fetalis, Edema OMIM:212065
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Scimitar anomaly, Coronary s... OMIM:618280
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Pyloric stenosis, Bone marrow hypocellularity, Leukopeni... ORPHA:381
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T... OMIM:235200
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... ORPHA:398124
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Pericardial effusion, Epistaxis, Subconjunctival hemorrhage ORPHA:464329
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Orthostatic syncope, Dehydration, Syncope, Abnormal EKG ORPHA:230
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Mirage Syndrome
Anemia, Hypospadias, Gastroesophageal reflux, Microphallus, Hypoplastic spleen, Thrombocytopenia,... OMIM:617053
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pulmonary arterial ... ORPHA:77261
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Abnormally loud pulmonic component of the second heart s... OMIM:615342
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i... OMIM:201475
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia... OMIM:232300
Histiocytosis-Lymphadenopathy Plus Syndrome
Left superior vena cava draining to coronary sinus, Hepatomegaly, Flexion contracture of toe, Joi... OMIM:602782
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, D... ORPHA:779
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Abnormal left ventricular outflow tract morphology, Tricus... ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Pericardial effusion, Hematoc... OMIM:615846
Metachromatic Leukodystrophy
Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl... ORPHA:512
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro... ORPHA:699
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage ORPHA:99931
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Vascular dilatation, Pulmonary arterial hypertension OMIM:613320
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Systemic Sclerosis
Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gast... ORPHA:90291
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Cherry red sp... OMIM:268800
Scorpion Envenomation
Myocarditis, Pulmonary edema, Congestive heart failure, Tachycardia, Prominent U wave, Hypertensi... ORPHA:466677
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Chédiak-Higashi Syndrome
Edema, Pericardial effusion, Pleural effusion, Epistaxis ORPHA:167
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Rhabdom... OMIM:614921
Hennekam Syndrome
Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Pericardial effusion ORPHA:2136
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Renal hypoplasia, Hypoplastic spleen, Hydronephrosis, Horse... OMIM:601186
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylopericardium, Chylothorax, Lymphedema, Ascites ORPHA:538
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis ORPHA:1272
Fumarase Deficiency
Mitochondrial swelling, Perimembranous ventricular septal defect, Polyhydramnios, Ascites OMIM:606812
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, P... OMIM:256300
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness OMIM:619259
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Sickle Cell Disease
Hepatomegaly, Stroke, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Increased variability in muscle fiber diameter, Cardiomeg... OMIM:617022
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Flexion contracture, Hypertrophic cardiomyopathy OMIM:616897
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Cocaine Intoxication
Pulmonary edema, Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertensio... ORPHA:90068
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ... ORPHA:465508
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Tachyc... ORPHA:137675
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Atrial septal defect, Ventricular sept... OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Dilatation of the cerebral artery,... ORPHA:365
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Pulmonary arterial hypertension, Double aortic arch,... ORPHA:95430
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1517
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... OMIM:105210
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... ORPHA:93111
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hydrops fetalis, Polyhydramnios, Ventricular hypertrophy, ... ORPHA:51608
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Palpitations, Bidirecti... OMIM:170390
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Abnor... ORPHA:141127
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Dehydration, Cardiac conduction abnormality, Arrhythmia, Abnormal T-wave ORPHA:2131
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Noonan Syndrome
Lymphedema, Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Abnormal EKG, Abnormal... ORPHA:648
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Elbow flexion contracture, Arr... OMIM:608836
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension OMIM:181000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Ethylene Glycol Poisoning
Pulmonary edema, Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertensi... ORPHA:31826
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina... ORPHA:79403
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Cardiomegaly, Aortic root aneurysm, Patent foramen ovale, Elbow ... OMIM:245600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Small hypothenar eminence, Mu... ORPHA:2463
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly ORPHA:228308
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... ORPHA:466650
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave ORPHA:444072
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Neonatal death, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis mult... OMIM:608013
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Fucosidosis
Hepatomegaly, Generalized amyotrophy, Splenomegaly, Flexion contracture, Cherry red spot of the m... OMIM:230000
African Trypanosomiasis
Myocarditis, Congestive heart failure, Pericarditis, Arrhythmia, Third degree atrioventricular bl... ORPHA:3385
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Macroglossia ORPHA:96191
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Cardiomegaly, Macr... OMIM:618143
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged QT interval ORPHA:66634
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Diastasis recti, C... OMIM:252500
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr... ORPHA:79102
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the... ORPHA:158684
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Reduced left ventricular ejection fraction, Abnor... ORPHA:581
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Knobloch Syndrome
Pyloric stenosis, Lymphangioma, Bifid ureter, Vesicoureteral reflux ORPHA:1571
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia, Cardiomeg... OMIM:130650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Retinal arterial tortuosity, Limb hypertonia, Patent foramen ovale, Pulmonar... OMIM:620371
Bohring-Opitz Syndrome
Facial hypotonia, Bradycardia, Bilateral wrist flexion contracture, Congenital contracture, Lower... ORPHA:97297
Aicardi-Goutières Syndrome
Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Myositis, Hypertrophic cardiomy... ORPHA:51
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Abetalipoproteinemia
Congestive heart failure, Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly, Myopathy ORPHA:14
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Polyhydramnios, Atrial fibrillation, Supraventricular tach... ORPHA:273
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Singleton-Merten Syndrome 1
Congestive heart failure, Aortic arch calcification, Mitral valve calcification, Aortic valve ste... OMIM:182250
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hepatomegaly, Ascending tubular aorta aneurysm, Hepatosplenomegaly, Sple... OMIM:620376
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Williams Syndrome
Abnormal carotid artery morphology, Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral va... ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Flexion contracture of toe, Elbow flexion contracture, Ca... OMIM:256040
Pmm2-Cdg
Angina pectoris, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Int... ORPHA:79318
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Yunis-Varon Syndrome
Hypertension, Cardiomyopathy, Renal artery stenosis, Pulmonary arterial hypertension, Renovascula... ORPHA:3472
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Enlarged kidney, Hepatomegaly, Leiomyosarcoma,... ORPHA:116
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Systolic heart murmur, Dilatation of... OMIM:619991
Simpson-Golabi-Behmel Syndrome
Polyhydramnios, Prolonged QT interval, Cardiomyopathy, Bundle branch block, Atrial septal defect,... ORPHA:373
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Dpagt1-Cdg
Anasarca, Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Prolonged QT interval, Tachycardia ORPHA:1772
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval ORPHA:79443
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Lymphedema, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Lymphedema, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Lymphedema, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:99228
Monosomy X
Prolonged QT interval, Lymphedema, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:99226
Multiple Endocrine Neoplasia Type 1
Hematemesis, Melena, Hypertension, Dehydration, Shortened QT interval 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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