Gene Summary

Eph receptor A3
End3,  Cek4,  Tyro4,  Hek4,  Mek4,  Hek

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
hyperactivity Epha3em1(IMPC)Mbp HOM Early adult 6.42×10-08
enlarged spleen Epha3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Epha3em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Epha3em1(IMPC)Mbp HOM Early adult 9.55×10-06
abnormal behavior Epha3em1(IMPC)Mbp HOM Early adult 9.97×10-06
increased circulating bilirubin level Epha3em1(IMPC)Mbp HOM Early adult 3.69×10-08
enlarged kidney Epha3em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Epha3em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Epha3em1(IMPC)Mbp HOM Early adult 1.05×10-08
small liver Epha3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Epha3em1(IMPC)Mbp HOM Early adult 0.00
small spleen Epha3em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Epha3em1(IMPC)Mbp HOM Early adult 5.59×10-06
decreased liver weight Epha3em1(IMPC)Mbp HOM   Early adult 3.66×10-05

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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.


XRay Images Whole Body Dorso Ventral

47 Images


XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Epha3 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 Epha3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... ORPHA:1329
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hy... OMIM:115197
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... ORPHA:75249
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... ORPHA:99105
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Atrioventricular Septal Defect 3
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... OMIM:600309
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Ascites, Cardiomegaly, Cardiomyopathy, Bradycardia, Cyanosis, Pulmonar... OMIM:261740
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Abnormal jugular vein morphology, Abnormality of ... ORPHA:1677
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... OMIM:237800
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Tachycardia, Bradycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... ORPHA:199241
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Dyspnea, Congestive heart failure, Endocardial fibrosis OMIM:613255
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... OMIM:600884
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Respiratory insufficiency due to ... ORPHA:98909
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Patent forame... ORPHA:542306
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dy... ORPHA:2041
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... OMIM:618782
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Histiocytoid Cardiomyopathy
Pulmonary edema, Loss of consciousness, Shortened PR interval, Junctional ectopic tachycardia, Le... ORPHA:137675
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Right bundle branch block, Cardiomeg... ORPHA:439
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypert... ORPHA:2414
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Tricuspid regurgitation, Jaundice,... ORPHA:615
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... OMIM:601005
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Respiratory insufficiency, Bradycardia, Patent ductus arteriosus, Hy... OMIM:616276
Loeffler Endocarditis
Left atrial enlargement, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Abnormal morp... ORPHA:75566
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Ascites, Edema, Abnormal tricuspid valve morphology, Pat... ORPHA:90308
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Rotor Syndrome
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jau... ORPHA:3111
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Death in adole... OMIM:605676
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Apnea, Bradycardia, Left ventricular hypertrophy, Hepatic ... OMIM:619048
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Ventricular septal ... ORPHA:3092
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Paroxysm... ORPHA:563
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Rhinorrhea, Cough, Pancreatitis, Pulmonary edema, Cardiorespiratory ar... ORPHA:188
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Hypoxemia, Reduced ejection fraction, Elevated hepatic transaminase, Tachypnea, Tachyc... ORPHA:542323
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Pulmo... OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Lethargy, Ventricular septal defect, Hepatomegaly, Prolonged QT interval,... ORPHA:26793
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Wheezing, Lung adenocarcinoma, Pleural thickening, Exer... ORPHA:2302
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Atrioventri... ORPHA:392
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... OMIM:619371
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Exertional dyspnea, Transient ischemic a... ORPHA:99104
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, M... ORPHA:2924
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Vasculitis, Pulmonary edema,... ORPHA:70578
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... OMIM:602390
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Atrial fibrillation, Mitral regurgitation, Congestive heart failure, Dys... OMIM:617047
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Cutaneous photosensitivity, Elevated... ORPHA:398124
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Ataxia, Congestive heart failure, Recu... ORPHA:796
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Vascular dil... ORPHA:99095
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst, Increased total bilirubin, Polycystic liver disease OMIM:174050
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... ORPHA:890
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Bradykinesia, Ataxia, Death in childhood, Lethargy OMIM:618683
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Hepatomegaly, Neonatal hyperbilirubinemia, Increased urine harderoporphyrin level, Splenomegaly, ... OMIM:618892
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy, Bradycardia, Hydrops fetalis OMIM:618815
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Palpitations, Tachycardia, Diffus... ORPHA:276556
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Gait imbalance, Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circu... ORPHA:673
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Hepatomegaly, Endocardial fibroe... OMIM:212140
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Focal pancreatic islet hyperplasi... ORPHA:276575
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic steat... OMIM:618234
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Fatal liver failure in infancy, Cardiomyopathy, Lethargy ORPHA:254857
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hypoxemia, Palpitations, Epistaxis, Pulmonary arterial hy... ORPHA:2038
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Exertional d... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrioventricular block, Waddling gait, Atrial arrhythmia OMIM:310300
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Hepatomegaly, Pericarditis... ORPHA:732
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Common atrium, Prolo... OMIM:619534
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Respiratory insufficiency, Patent ductus ar... ORPHA:1880
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Nephroblastoma... ORPHA:158057
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Respiratory ... OMIM:614299
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Palpitations, Tachycardia, Diffus... ORPHA:276580
Idiopathic Pulmonary Arterial Hypertension
Syncope, Abnormal jugular vein morphology, Right ventricular hypertrophy, Palpitations, Pulmonary... ORPHA:275766
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Respiratory insufficiency, Ascites, Petechiae, Bradycardia, Pa... OMIM:617397
Ethylene Glycol Poisoning
Shock, Hypertension, Drowsiness, Prolonged QT interval, Atrial fibrillation, Abnormal pattern of ... ORPHA:31826
Lipoyltransferase 1 Deficiency
Dystonia, Death in infancy, Pulmonary arterial hypertension, Bradycardia, Decreased liver functio... OMIM:616299
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Patent... ORPHA:97214
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure ORPHA:91130
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormality of the liver, Congestive heart failure, Respiratory failure, R... ORPHA:132
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Cardiomyopathy, Respiratory distress, Hepatic steatosis, Lethargy ORPHA:26792
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia ORPHA:871
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dystonia, Hepatomegaly, Decreased liver function, Ataxia, Elevated h... OMIM:246900
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Partial atrioventricular canal defect, Polysplenia, Situs inversus t... OMIM:619608
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrop... ORPHA:555874
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Transient ischemic ... ORPHA:1330
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Dystonia, Bradycardia, Respiratory insufficiency OMIM:614654
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Respiratory insufficiency, Lethargy OMIM:618228
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... ORPHA:422
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Cocaine Intoxication
Wheezing, Ventricular arrhythmia, Pulmonary edema, Reduced consciousness/confusion, Diffuse alveo... ORPHA:90068
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Subcutaneous calcification, Congestive heart failure, Prominent super... ORPHA:141179
Hepatoportal Sclerosis
Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Scorpion Envenomation
Myocarditis, Prominent U wave, Cardiac conduction abnormality, ST segment depression, Pulmonary e... ORPHA:466677
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, I... OMIM:235555
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Ataxia, Congestive heart failure, Arrhythmia ORPHA:225
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Atrioventricular block, Bradycardia, Acrocyanosis, Truncal ataxia OMIM:614407
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Pulmonary arterial hypertension, Cardiomegaly, Death in childhood... OMIM:619064
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Coma, Loss of conscious... ORPHA:156
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Inability to walk, Congestive heart failure, Left ventricular hypertrophy ORPHA:206546
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Respiratory arrest, Hepatomegaly, Ventricular tachycardia, Cardiomegaly, ... OMIM:600649
Hepatomegaly, Epistaxis, Cough, Splenomegaly, Ataxia, Gastrointestinal hemorrhage, Abnormal pulmo... ORPHA:99745
Paroxysmal Extreme Pain Disorder
Rhinorrhea, Tachycardia, Bradycardia, Flushing OMIM:167400
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Subcutaneous calcification, Congestive heart failure, Prominent super... ORPHA:141184
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... ORPHA:85445
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Abnormal urinary color, Bi... ORPHA:234
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Unconjugated hyperbilirubinemia, Polycythemia, Steppage gait, Bradykinesi... OMIM:613280
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypertension, Hypoxemia, Pericardial effusion, Crackle... ORPHA:79126
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... OMIM:619424
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... OMIM:610198
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Micronodular cirrhosis, Jaundice, Lethargy OMIM:215600
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Confusion, Crackles, Mitral regurgitation, Low pulse pressu... ORPHA:97292
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart failure... OMIM:613313
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Gait disturbance, Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:182900
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Co... OMIM:269920
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Sp... OMIM:235200
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... OMIM:263000
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Elevated urinary delta-aminolevulinic acid, Hepatocellular ... OMIM:276700
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Reduced vital capacity, Respiratory insufficiency OMIM:618654
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Endocardial fibroelastosis... OMIM:302060
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Lethargy OMIM:201470
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Abnormal heart morphology, Central sleep ap... ORPHA:70472
Hepatomegaly, Respiratory insufficiency, Cough, Splenomegaly, Myocardial infarction, Coma, Conges... ORPHA:108
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Acquired Methemoglobinemia
Syncope, Hypoxemia, Drowsiness, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Coma, ... ORPHA:464453
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Apnea, Bradycardia, Respiratory failure OMIM:617248
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Death in infancy, Pancreatitis, Hepatic steatosis, Elevated circulat... OMIM:619386
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia, Facial edema, Lethargy ORPHA:95717
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle mo... ORPHA:1055
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm,... ORPHA:98853
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hepatomegaly, Splenomegaly ORPHA:139406
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria, Depression OMIM:602079
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Hydrops... ORPHA:45452
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Atrioventricular block, Wadd... ORPHA:98855
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Myotonic Dystrophy 1
Atrial fibrillation, Cholelithiasis, Polyhydramnios, Excessive daytime somnolence, Respiratory di... OMIM:160900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Anxiety, Fulminant hepatitis, Increased total bilirubin, Acute... ORPHA:2137
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Anxiety, Depression, Elevated urin... OMIM:121300
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Abnormal aortic valve morphology, Re... ORPHA:1194
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... ORPHA:363705
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Waddling gait, Hypoventilation... OMIM:310200
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Coma, Hepatic steatosis, Elevated hepatic transaminase, Arrhythmia, L... OMIM:255120
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ureteral duplicat... OMIM:608836
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Loss of ability to walk, Diffic... OMIM:616812
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Death in infancy, Respiratory insufficiency, Congestive heart failure, Arrhythmia ORPHA:157973
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Difficulty walking, Congestive heart failure ORPHA:324588
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Death in infancy, Ascites, Restrictive cardiomyopathy, Tri... OMIM:619433
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... OMIM:314400
Hemorrhagic Fever-Renal Syndrome
Petechiae, Melena, Pulmonary edema, Respiratory failure, Capillary leak, Ecchymosis, Hypertension... ORPHA:340
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:616649
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Dystonia, Hepatomegaly, Edema, Apnea, Cardiomegaly, Polyhydramnios, Left ventricular hypertrophy,... ORPHA:79330
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Le... OMIM:605711
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Gait disturbance, Ventricular escape rhythm, Atrioventricular block,... ORPHA:98863
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Hepatomegaly, Cardiomyopathy, Pancreatitis, Splenomegaly, Respiratory distress, Coma, D... ORPHA:79312
Kearns-Sayre Syndrome
Ataxia, Third degree atrioventricular block ORPHA:480
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Pedal ede... OMIM:126320
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Confusion, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respirat... ORPHA:36238
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hemochromatosis Type 2
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis... ORPHA:79230
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... ORPHA:358
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Necrotizing Enterocolitis
Shock, Ascites, Peritonitis, Abnormal heart morphology, Edema, Apnea, Bradycardia, Hypotension, L... ORPHA:391673
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertro... ORPHA:369929
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Respiratory arrest, Hepatomegaly, Death in infancy, Hepatocellular n... OMIM:201475
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Wolff-Parkinson-White syndr... OMIM:540000
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Congestive heart failure OMIM:606703
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Respiratory insufficiency, Ascit... ORPHA:367
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... ORPHA:439232
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Tachypnea, Double outlet right ventricle, Coarctat... ORPHA:3426
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Left ve... ORPHA:746
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Decreased liver function, Exertional dyspnea, Ataxia, Coma, Loss of c... ORPHA:42
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Congenital Fibrinogen Deficiency
Splenic rupture, Gingival bleeding, Right ventricular hypertrophy, Prolonged prothrombin time, Ta... ORPHA:335
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Respiratory insufficiency, Elevated hepatic transaminase, Elevated circul... OMIM:609015
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hypersplenism, Conjug... ORPHA:480520
Morbid Obesity And Spermatogenic Failure
Hypertension, Premature coronary artery atherosclerosis, Myocardial infarction, Hepatic steatosis... OMIM:615703
Fabry Disease
Transient ischemic attack, Emphysema, Lymphedema, Hypertrophic cardiomyopathy, Hypertension, Abno... ORPHA:324
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... OMIM:618495
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Telangiectasia, Arteriovenous fistula, Nonimmune hydrops fetalis, Vascular skin abnor... ORPHA:137667
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Respiratory insuff... OMIM:255160
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosis, Ch... OMIM:613404
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Hyperglycinuria, Impulsivity, ... OMIM:605899
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Hepatomegaly, Drowsiness, Palpitations, Tachycardia, Loss of consciousness, Hypoglycemic... ORPHA:324575
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Gait disturbance, Respiratory ... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure, Polyhydramnios OMIM:616794
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Hyperbilirubinemia OMIM:609734
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbi... ORPHA:288
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Respiratory insufficiency, Cardiomyopathy, Pancreatitis, Ataxia, Coma, Dehydration,... ORPHA:27
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, I... OMIM:603553
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hepatomegaly, Respiratory insufficiency, Sudden episodic apnea, Ventricular tachycardia... ORPHA:159
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... ORPHA:444013
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Respiratory failure, ... OMIM:253300
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Recurrent lower respiratory tract ... OMIM:253250
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Hepatic cysts, Decreased glomeru... ORPHA:730
Cyclic Vomiting Syndrome
Ataxia, Attention deficit hyperactivity disorder, Cardiomyopathy, Lethargy OMIM:500007
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Abse... OMIM:259720
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Pulmonary edema, Congestive ... ORPHA:73224
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy, Ataxia, Hepatic failure, Ele... ORPHA:2394
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency d... ORPHA:308552
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... ORPHA:70591
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis OMIM:236750
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Neonatal inspiratory stridor, Abnormal atrioventricular conduction OMIM:118230
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
American Trypanosomiasis
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Cough, Splenomegaly, Congestive heart failure, ... ORPHA:3386
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Oligohydramnios, Congestive heart failu... ORPHA:163596
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Paroxysmal dyspnea, Mitral atresia, Single ventricle, Low-output conge... ORPHA:99125
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Single ventricle, Apnea, Patent ductus arteriosus, Decre... ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Glycogen Storage Disease Ii
Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Cardio... OMIM:232300
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... ORPHA:91131
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia OMIM:616719
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Cap... ORPHA:64739
Ogden Syndrome
Ventricular septal defect, Torticollis, Shuffling gait, Excessive daytime somnolence, Cardiogenic... ORPHA:276432
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Ataxia, Extramedullary he... ORPHA:822
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperprolinemia, Hyperactivity, Ataxia, Hyper... OMIM:239500
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Gait disturbance, Ataxia, Cong... ORPHA:1349
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Tachycardia, Pancreatic islet-cell hyperplasia, Coma, Lethargy ORPHA:276608
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Ascites, Iron deficiency anemia, Chronic kidney disease,... ORPHA:1667
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Neonatal death, Apnea, Erythema, Bradycardia, Recurrent respirator... OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Hepatomegaly, Respiratory insufficiency, Ataxia, Lethargy OMIM:618224
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Steppage gait, Cardiomegaly, Tricuspid regurgitation... ORPHA:324410
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Death in infancy, Respiratory insufficien... ORPHA:1120
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Abnormal respiratory system physiology, Edema, Coarcta... ORPHA:101028
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... OMIM:618775
Distal 7Q11.23 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Reticul... OMIM:232800
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Elliptocytosi... OMIM:109270
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Car... ORPHA:465508
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Immune-Mediated Necrotizing Myopathy
Myocarditis, Palpitations, Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Conges... ORPHA:206569
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Edema, Patent ductus arteriosus, Lethargy OMIM:610498
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Coarctation of aorta, Pulmonary arterial hypertension, Atrial septal defect, Lethargy OMIM:614857
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Wheezing, Abnormal pulmonary valve cusp morphol... ORPHA:97287
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy, Jaundice, Acute hepatic failure, Elevated hepatic tra... OMIM:616483
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... OMIM:300908
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Aicardi-Goutieres Syndrome 7
Dystonia, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Irritability, Thrombocytopenia OMIM:615846
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Increased level of hippuric acid in ... OMIM:261600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Gait imbalance, Lethargy OMIM:618120
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Angiokeratoma corporis diffusum, Death in in... OMIM:230500
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Hydrops fetalis OMIM:618052
Lyme Disease
Joint swelling, Atrioventricular block, Arrhythmia ORPHA:91546
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea, Bradycardia OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Generalized edema, Pulmonary edema, Poor wound h... ORPHA:244242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Hypoxemia, Neonatal respiratory distress, Palpitations, Abnormal heart mor... ORPHA:2847
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Central apnea, Ataxia, Cyanosis, Confusion, Lethargy ORPHA:71277
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypertension, Intracranial hemorrhage, Mitral regurgit... ORPHA:363618
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Abnormal mitral valve m... ORPHA:1461
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Gait disturbance, Atrial fibrillation, Respiratory insufficiency, Cardiac... ORPHA:273
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Hyperammonemia, Cirrhosis, Splen... OMIM:271500
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Mitral valve calcification, Pleural thickening, Exertional dyspnea, Re... ORPHA:60025
Lujo Hemorrhagic Fever
Myocarditis, Crackles, Facial edema, Excessive bleeding after a venipuncture, Cerebral edema, Gen... ORPHA:319213
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis, Coma, Dehydration, Lethargy OMIM:251000
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosis, Ch... OMIM:208085
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Dystonia, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventri... OMIM:619167
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Evans Syndrome
Lethargy, Syncope, Petechiae, Epistaxis, Dyspnea, Bruising susceptibility, Jaundice ORPHA:1959
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Atrioventricular block, Central hypoventilation, Abnormal atrioventricul... OMIM:118301
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumot... ORPHA:2257
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Ataxia, Congestive heart failure, Arrhythmia OMIM:266500
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Kearns-Sayre Syndrome
Ataxia, Third degree atrioventricular block, Arrhythmia, Cardiomyopathy OMIM:530000
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Intrahepatic Cholestasis Of Pregnancy
Ascites, Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration... ORPHA:69665
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Hepatomegaly, Biventri... OMIM:619573
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Fabry Disease
Lymphedema, Hypertension, Ventricular septal hypertrophy, Left ventricular hypertrophy, Myocardia... OMIM:301500
Scrub Typhus
Myocarditis, Cough, Splenomegaly, Abnormal bleeding, Reduced consciousness/confusion, Restrictive... ORPHA:83317
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Lung abscess, Cough, Pleural empyema, Congestive heart failure, Elevat... ORPHA:67
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Indomethacin Embryofetopathy