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Gene: Epha3 MGI:99612

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Gene Summary

Name:
Eph receptor A3
Synonyms:
End3,  Tyro4,  Cek4,  Hek4,  Mek4,  Hek

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
abnormal kidney morphology Epha3em1(IMPC)Mbp HOM Early adult 0.00
decreased liver weight Epha3em1(IMPC)Mbp HOM Early adult 3.92×10-05
decreased thigmotaxis Epha3em1(IMPC)Mbp HOM Early adult 7.09×10-05
enlarged spleen Epha3em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Epha3em1(IMPC)Mbp HOM Early adult 4.53×10-07
abnormal behavior Epha3em1(IMPC)Mbp HOM Early adult 6.81×10-05
abnormal spleen morphology Epha3em1(IMPC)Mbp HOM Early adult 0.00
small liver 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 1.94×10-05
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 1.28×10-08

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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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

47 Images

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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
phenotypes		 Matching phenotypes Source
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega... OMIM:115197
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphe... ORPHA:75249
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Cirrhotic Cardiomyopathy
Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Jaundice,... ORPHA:57777
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613286
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... OMIM:600884
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Brad... ORPHA:70587
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Ventricular fibrillation, Increased myocardial glycog... OMIM:261740
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Cyanosis, Splenomeg... ORPHA:2414
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Ascites, Tricuspid regur... ORPHA:615
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Suprave... ORPHA:98909
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Letha... ORPHA:49827
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Peripheral arteriovenou... ORPHA:90308
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa... OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... OMIM:619048
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Lethargy, Arrhyth... OMIM:602390
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Atrial Septal Defect, Coronary Sinus Type
Arrhythmia, Unroofed coronary sinus, Abnormally loud pulmonic component of the second heart sound... ORPHA:99104
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transamin... ORPHA:26793
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Pancreatitis, Myocarditis, Pedal edem... ORPHA:188
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra... ORPHA:398124
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficien... OMIM:604387
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ... OMIM:617397
High Altitude Pulmonary Edema
Pulmonary edema, Tachycardia, Hypoxemia, Cyanosis ORPHA:330012
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Sandhoff Disease
Cherry red spot of the macula, Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent re... ORPHA:796
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Hydrops fetalis OMIM:618815
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy, Death in childhood, Bradykinesia OMIM:618683
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis, Abnormal blood gas leve... ORPHA:70578
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... ORPHA:542323
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Congestive heart failure OMIM:615440
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Death in infancy, Ventricular septal defect OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... OMIM:613426
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Hepatomegaly, Cardiac arrest OMIM:618235
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho... ORPHA:2038
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Lethal Infantile Mitochondrial Myopathy
Lethargy, Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Death in childhood, Death in infancy, Ca... OMIM:619064
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure ORPHA:91130
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... OMIM:255160
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... OMIM:614702
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:212140
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c... OMIM:246900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... OMIM:619534
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Non-Involuting Congenital Hemangioma
Subcutaneous calcification, Congestive heart failure, Telangiectasia of the skin, Prominent super... ORPHA:141179
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Decreased liver function, Ascites, Oligohydramnios, Nonimmu... OMIM:617021
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Le... OMIM:600649
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Preeclampsia
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he... ORPHA:275555
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in childhood, Death in infancy, Bradycardia OMIM:620265
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncop... ORPHA:276556
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Trimethylaminuria
Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Focal pancreatic... ORPHA:276575
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Scorpion Envenomation
Acute pancreatitis, Erythema, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bund... ORPHA:466677
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Rapidly Involuting Congenital Hemangioma
Subcutaneous calcification, Congestive heart failure, Telangiectasia of the skin, Prominent super... ORPHA:141184
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Paroxysmal Extreme Pain Disorder
Tachycardia, Flushing, Bradycardia OMIM:167400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega... OMIM:618234
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... ORPHA:555874
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Left ventricular hypertrophy, Arrhythmia, Wolff-Pa... OMIM:540000
Hereditary Butyrylcholinesterase Deficiency
Abnormality of the liver, Myocardial infarction, Congestive heart failure ORPHA:132
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Schizophrenia 15
Hyperactivity OMIM:613950
Glycogen Storage Disease Iv
Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Bra... OMIM:232500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncop... ORPHA:276580
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... OMIM:610198
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... OMIM:314400
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy, Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Death in childhood, Splenomegaly, Cardiomegaly, Hepatomegaly, ... OMIM:269920
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Acrocyanosis, Bradycardia OMIM:614407
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Lethargy, Hepatomegaly, Abnorma... ORPHA:99745
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:608099
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:619386
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Cyanosis, Dea... OMIM:617478
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Stroke-like episode, Cardiomegaly, Pulmonary edema, Orthostatic hypotension due t... OMIM:105210
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop... ORPHA:156
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Arteriovenous malformation, Vascular skin abnormality, Lymphedema, Abnorm... ORPHA:137667
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congenital hepat... ORPHA:79230
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula... OMIM:620609
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Cocaine Intoxication
Mania, Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischem... ORPHA:90068
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Shock, Ascites, Cyanosis, Lethargy, Peritonitis, Bradycar... ORPHA:391673
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Cholestasis, Pl... OMIM:620233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Stroke, Lethargy, Pancreatitis, Hepatomegaly, Dehydration ORPHA:79312
Fabry Disease
Atrioventricular block, Depression, Lymphedema, Hypertrophic cardiomyopathy, Emphysema, Bundle br... ORPHA:324
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Death in infan... OMIM:616299
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase co... OMIM:613561
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Death i... OMIM:619433
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Oligohydramnios, Abnormal pulmonary valve ... ORPHA:1194
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abnormal cardiac septum morphology, Pol... ORPHA:589821
Babesiosis
Hepatic failure, Depression, Congestive heart failure, Splenomegaly, Recurrent pharyngitis, Hepat... ORPHA:108
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Coproporphyria, Hereditary
Depression, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegal... OMIM:121300
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Hepatic steatosis, Hypertens... OMIM:615703
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Combined Oxidative Phosphorylation Deficiency 2
Elevated circulating hepatic transaminase concentration, Neonatal death, Lethargy, Patent ductus ... OMIM:610498
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Cyanosis, Pulmonary edema, Prolonged QT interval, A... ORPHA:31826
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Biliary atresia OMIM:615272
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:367
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurren... OMIM:253250
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Cyanosis, Truncus arteriosus, Ventricu... ORPHA:3426
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Dk1-Cdg
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... ORPHA:91131
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Letharg... ORPHA:2394
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Death in early adult... OMIM:605676
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Chronic Thromboembolic Pulmonary Hypertension
Depression, Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-w... ORPHA:70591
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi... ORPHA:70472
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Hepatic calcification, Pericar... ORPHA:73224
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... OMIM:609015
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... ORPHA:99094
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, L... OMIM:616483
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Hellp Syndrome
Generalized edema, Hypotension, Elevated circulating hepatic transaminase concentration, Poor wou... ORPHA:244242
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Prolonged QT int... ORPHA:358
Ogden Syndrome
Facial wrinkling, Torsade de pointes, Ventricular septal defect, Pulmonary edema, Bicuspid aortic... OMIM:300855
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fe... ORPHA:163596
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... ORPHA:335
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Joint swelling, Splenomegaly, Card... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure OMIM:616794
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, P... ORPHA:2032
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Edema, Atelectasis OMIM:267450
Mogs-Cdg
Generalized edema, Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular hypertroph... ORPHA:79330
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Immune-Mediated Necrotizing Myopathy
Congestive heart failure, Palpitations, Raynaud phenomenon, Myocarditis, Abnormal pulmonary inter... ORPHA:206569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Depression, Cardiomyopathy, Bradycardia OMIM:609286
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure, Oligohydramnios, Patent ... OMIM:616866
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertr... OMIM:263000
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Death in infancy, Congestive heart failure ORPHA:157973
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Decreased liver function, Death in childhood, Death in infancy, Neonatal death, H... OMIM:614922
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Buerger Disease
Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon... ORPHA:36258
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyop... ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy, Left ventricular hypertrophy OMIM:618228
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subco... ORPHA:340
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Pleural effusion, Lethargy, Pneumothorax, Acute infectious pneumon... ORPHA:36238
Glutamine Deficiency, Congenital
Neonatal death, Erythema, Recurrent respiratory infections, Bradycardia OMIM:610015
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Myofiber disarray, Death in infancy, Lethargy, Hepatomegaly, Cardiac... OMIM:604377
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Patent duc... OMIM:614857
Developmental And Epileptic Encephalopathy 40
Lethargy, Hyaline membranes OMIM:617065
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Cyclic Vomiting Syndrome
Lethargy, Cardiomyopathy OMIM:500007
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fabry Disease
Lymphedema, Congestive heart failure, Transient ischemic attack, Angiokeratoma, Ventricular septa... OMIM:301500
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Polyhydramnios, Atrial fibri... OMIM:160900
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Evans Syndrome
Epistaxis, Bruising susceptibility, Petechiae, Lethargy, Syncope, Jaundice ORPHA:1959
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... ORPHA:444013
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythm... ORPHA:3386
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E... ORPHA:363618
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Congestive heart failure ORPHA:500533
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Lethargy, Pancreatitis, Hepatomegaly, Dehydration ORPHA:27
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Mitral regurgitat... ORPHA:746
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Lethargy ORPHA:276432
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Dilated cardiomyopathy OMIM:618120
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... ORPHA:101028
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial ... OMIM:123700
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Syncope, Hepatomegaly, Tachycardia ORPHA:324575
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lethargy, Arrhythmia, Hepatomegaly ORPHA:254913
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Leukopenia, Splenomeg... OMIM:617303
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Lethargy, Pancreatic islet-cell hyperplasia ORPHA:276608
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle... ORPHA:3304
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Double Outlet Left Ventricle
Abnormal coronary artery course, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulm... ORPHA:3427
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy, Death in childhood OMIM:618224
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Dilated cardiomyopathy, Anasarca, Third degree atrioventricular block, Biventric... OMIM:619573
Hartnup Disorder
Neutral hyperaminoaciduria, Emotional lability, Attention deficit hyperactivity disorder, Hyperac... OMIM:234500
Lyme Disease
Arrhythmia, Joint swelling, Atrioventricular block ORPHA:91546
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Splenomegaly, Shortened P... OMIM:232300
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Cednik Syndrome
Stroke, Congestive heart failure ORPHA:66631
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity OMIM:615924
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, P... ORPHA:846
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Lethargy, Hepatomegaly OMIM:614299
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... ORPHA:99901
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Glycine Encephalopathy 1
Hyperglycinuria, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR interval, Cardiomegaly, Le... ORPHA:308552
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... ORPHA:95430
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy, Prolonged neonatal jaundice, Bradycardia ORPHA:95716
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent... OMIM:620646
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic v... ORPHA:1120
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Abnormal peric... ORPHA:67
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Heart murmur, Pneumonia, Acrocyanosis ORPHA:1867
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:1909
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Hepatomegaly, Motor stereotypy, Splenomegaly OMIM:615637
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Cold urticaria, Vascular skin abnormality, Congestive he... ORPHA:91139
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity, Abnormality of the kidney ORPHA:75858
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure,... ORPHA:79083
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Steinert Myotonic Dystrophy
Cholelithiasis, Dilated cardiomyopathy, Depression, Elevated circulating hepatic transaminase con... ORPHA:273
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Cyanosis, Pneumothorax, Dext... ORPHA:2257
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Propionic Acidemia
Cardiomyopathy, Lethargy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly, Dehydration OMIM:606054
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Generalized edema, Hypotension, Subconjunctival hemorrhage, Elev... ORPHA:319213
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Renal dysplasia, Elevated circulating as... OMIM:608836
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Acquired Methemoglobinemia
Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia ORPHA:464453
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp... OMIM:616028
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Lethargy, Pulmonary arterial hypertension, Ci... OMIM:215600
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Progeroid facial appearance, Congestive heart failure, Hype... ORPHA:280365
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Premature ventricular contraction, Heart block ORPHA:1964
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... ORPHA:2729
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Lethargy, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemorrhage, Asc... ORPHA:99827
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Congestive heart failure, Subcutane... ORPHA:727
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep... ORPHA:263297
Scrub Typhus
Hypotension, Abnormal bleeding, Splenomegaly, Lethargy, Myocarditis ORPHA:83317
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Lethargy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly, Dehydration OMIM:251000
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Cutis marmorata, Intermittent claudication, Raynaud p... OMIM:259900
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Dilated cardiomyopathy, Death in childhood, Left ventricular hypertrophy, Lethargy, Cer... OMIM:618321
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity... OMIM:614437
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Gaucher Disease, Type Iii
Depression, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:231000
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis, Irritability OMIM:612126
Meckel Syndrome 14
Hepatic fibrosis, Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency, Mitral... OMIM:619879
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Cyanosis ORPHA:71277
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:613490
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri... ORPHA:97287
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit... OMIM:252920
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Wilson Disease
Elevated circulating hepatic transaminase concentration, Depression, Hepatitis, Acute hepatic fai... ORPHA:905
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Hepatic steatosis, Spleno... ORPHA:2348
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Irritabil... OMIM:613489
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Progeroid facial appearance, Atherosclerosis, Mitral regurgitation, Hypertensi... OMIM:614008
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita... OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, ... OMIM:613327
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Glossopharyngeal Neuralgia
Depression, Syncope, Vascular dilatation, Bradycardia, Jaw claudication ORPHA:221098
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Hepatic failure, Congestive heart failure ORPHA:261519
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Phenylketonuria
Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ... OMIM:261600
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, An... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Atrial septal defect, Bra... ORPHA:70
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... OMIM:220111
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, P... OMIM:615355
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Classic Multiminicore Myopathy
Right ventricular failure, Right ventricular hypertrophy, Mitral valve prolapse, Congestive heart... ORPHA:324604
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Ede... ORPHA:20
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:391
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Stroke, Bipolar affective disorder, Congestive heart failure ORPHA:3077
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Atrophoderma Vermiculata
Erythema, Heart block ORPHA:79100
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Immunodeficiency 27A
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anorexia, Anemia... OMIM:209950
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Cholera
Hypovolemic shock, Hypotension, Aspiration pneumonia, Stroke, Palmoplantar cutis laxa, Lethargy, ... ORPHA:173
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Death in infancy, Bradycardia OMIM:610768
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirrhosis, Prominent su... ORPHA:528
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Bradycardia OMIM:614498
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypertrophic car... ORPHA:71212
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Polyphagia, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Mac... ORPHA:251004
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, Tricuspid regur... ORPHA:505248
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Decreased liver function, Petechiae, Cyanosis, Splenomegaly, Jaun... ORPHA:90051
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Elevated serum transaminases duri... ORPHA:509
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stroke, Hepatomegaly, Lethargy, Cerebral ischemia ORPHA:927
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Splenomegaly, Tr... OMIM:616589
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Complete atrioventricular canal defec... OMIM:617063
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Mucopolysaccharidosis Type 3
Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Respira... ORPHA:581
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, Cardiomyopathy, Congestive heart failure, Increased hepatic glycogen content, Cardiom... OMIM:619259
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Cholestasis, Hepatosplenomegaly, Elevated circulat... OMIM:614866
Spinal Arteriovenous Metameric Syndrome
Angiokeratoma, Spinal arteriovenous malformation, Arteriovenous malformation, Congestive heart fa... ORPHA:53721
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro... ORPHA:507
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
Idiopathic Hypereosinophilic Syndrome
Angioedema, Cutis marmorata, Hepatosplenomegaly, Myocardial eosinophilic infiltration, Portal fib... ORPHA:3260
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage, Dehydration OMIM:243500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Recurrent pneumonia, Poor wound healing, Abnormal venous morphology, Aortic ... ORPHA:1900
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Avian Influenza
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Congestive heart f... ORPHA:454836
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Perching Syndrome
Cyanosis OMIM:617055
Meningococcal Meningitis
Hypotension, Shock, Petechiae, Stroke, Lethargy, Purpura ORPHA:33475
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Cardiomyopathy, Congestive heart failure ORPHA:52430
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Gm1 Gangliosidosis
Cardiomyopathy, Aspiration pneumonia, Abnormal heart morphology, Congestive heart failure, Cherry... ORPHA:354
Mitochondrial Complex I Deficiency, Nuclear Type 37
Stroke-like episode, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Mit... ORPHA:423461
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubu... ORPHA:449395
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Lethargy, Intraventricular hemorrhage, Reduced number of intrahepatic ... ORPHA:79284
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Sinus tachycardia, Congestive heart fail... ORPHA:525731
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan... ORPHA:774
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Lethargy OMIM:250620
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Lethargy, Edema, Bradycardia ORPHA:90673
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Congenital Myopathy 22A, Classic
Polyhydramnios, Neonatal death, Tricuspid regurgitation, Bradycardia OMIM:620351
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... ORPHA:26791
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin... OMIM:620300
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Farber Lipogranulomatosis
Hepatomegaly, Irritability, Splenomegaly, Lipogranulomatosis OMIM:228000
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Decreased liver function, Congestive heart failure, Elevated circu... OMIM:608779
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ... OMIM:176670
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620135
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Depression, Elevated circulating hepatic transaminase concentration, Brad... ORPHA:254892
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Tachycardia, Hypertension, Patent ductus arteriosus OMIM:613870
Werner Syndrome
Subcutaneous calcification, Abnormal cerebral vascular morphology, Congestive heart failure, Athe... ORPHA:902
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur... OMIM:617156
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Patent foramen ovale, Lethargy... OMIM:607143
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Kawasaki Disease
Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:2331
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Right aortic ... OMIM:620642
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... OMIM:249270
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept... OMIM:601808
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Tetrasomy 5P
Congestive heart failure, Cyanosis, Pulmonary arterial hypertension, Heart murmur, Recurrent resp... ORPHA:3309
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D... ORPHA:90349
Severe Canavan Disease
Lethargy ORPHA:314911
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis ORPHA:391428
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Xerostomia, Congestive heart failure, Pulmonary arterial hypertension, Telan... ORPHA:220393
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen ORPHA:89844
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegal... OMIM:309900
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracr... ORPHA:49566
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Warfarin-induced... ORPHA:745
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Dehydration ORPHA:28
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Micropenis, Hi... ORPHA:168569
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... OMIM:257200
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Increased hepa... OMIM:278000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid ... ORPHA:91387
Erdheim-Chester Disease
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno... ORPHA:35687
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, C... OMIM:600376
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Erythema, Abnormal bleeding, Angioe... ORPHA:449285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a... OMIM:618495
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur... OMIM:619355
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect, Atelectasis ORPHA:896
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Hyperactivity, Splenomegaly OMIM:252900
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Death in childhood OMIM:618225
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Pulmonary arterial hypertension, Death in infancy, Neonatal death OMIM:605711
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Spleno... ORPHA:565612
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced subcutaneous adipose tissue, Right... OMIM:617403
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Argininemia
Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Irritability, Hyperactivity... OMIM:207800
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Dehydration OMIM:251110
Classic Galactosemia
Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Ascites, Le... ORPHA:79239
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Crigler-Najjar Syndrome
Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pancreatic islet-cell hyperplasia, Incre... ORPHA:263455
Pontocerebellar Hypoplasia, Type 6
Lethargy, Death in childhood OMIM:611523
Insulinoma
Abnormality of the pancreatic islet cells, Lethargy, Palpitations ORPHA:97279
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ... ORPHA:3208
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Developmental And Epileptic Encephalopathy 18
Polyhydramnios, Aortic regurgitation, Oligohydramnios, Atrial septal defect OMIM:615476
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Transien... ORPHA:365
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Jaundice, Splenomegaly, Congestive heart failure ORPHA:90033
Seckel Syndrome 10
Acute pancreatitis, Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspar... OMIM:617253
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatitis, Congestive heart failure, Medial calcifi... ORPHA:391487
Alagille Syndrome 2
Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis... OMIM:610205
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Elevated circulating hepatic transaminase ... ORPHA:100080
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Marburg Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival hemorrhage,... ORPHA:99826
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Lethargy OMIM:229700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Oligohydr... OMIM:606003
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Pe... OMIM:225750
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ... ORPHA:79259
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:615895
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... ORPHA:79282
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Depression, Ascites, Hypersplenism, Hepatosp... ORPHA:77259
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Depression, Lethargy, Bradycardia, Prolonged neonatal jaundice ORPHA:90674
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Mucopolysaccharidosis Type 1
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomeg... ORPHA:579
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Hypersplenism, Mitral regurgitation, Splenomegaly, Pulmonary ar... OMIM:230800
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Hyperkalemic Periodic Paralysis
Arrhythmia, Death in early adulthood, Death in infancy, Congestive heart failure ORPHA:682
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Mcleod Syndrome
Depression, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Spleno... OMIM:300842
Martsolf Syndrome 1
Cardiac arrest, Recurrent respiratory infections, Cardiomyopathy, Congestive heart failure OMIM:212720
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy OMIM:618226
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Unilateral Polymicrogyria
Epistaxis, Abnormal heart morphology, Cyanosis, Pulmonary arteriovenous malformation, Stroke ORPHA:268943
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Depression, Viral hepatitis, Ascites, Sp... ORPHA:2137
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Bipolar affective disorder, ... ORPHA:404443
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Acute hepatic failure, Supraventricular tachycardia, H... ORPHA:423
Japanese Encephalitis
Pulmonary edema, Cerebral edema ORPHA:79139
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E... ORPHA:100082
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Dysphagia OMIM:252930
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Bruising susceptibility, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon... ORPHA:94093
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... ORPHA:31824
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Hepatic cysts, Abnormal renal artery morphology, ... ORPHA:79328
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrial reentry tachycardia, At... OMIM:270100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Cardiomyopathy OMIM:201470
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Foam cells, Acute infectious pneumonia, Tachycardia, Hypoxemia ORPHA:264675
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620141
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... ORPHA:500
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insuff... ORPHA:743
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Lethargy, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, C... OMIM:277400
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... OMIM:603909
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Central Diabetes Insipidus
Lethargy, Depression, Dehydration ORPHA:178029
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Neona... OMIM:620244
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h... ORPHA:131
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Listeriosis
Pneumonia, Arteritis, Liver abscess, Congestive heart failure, Cholecystitis, Stroke, Peritonitis... ORPHA:533
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Peritonitis, Hepatomegaly, Acrocyanos... ORPHA:343
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:834
Combined Oxidative Phosphorylation Deficiency 15
Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Atrial septal defect, Dextrocardia, Hepatomegaly, Patent ductus arteriosus OMIM:277380
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Poems Syndrome
Ascites, Pleural effusion, Splenomegaly, Plethora, Hepatomegaly, Pulmonary arterial hypertension,... ORPHA:2905
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Lethargy, Hypertension ORPHA:2169
Triosephosphate Isomerase Deficiency
Cholelithiasis, Congestive heart failure, Oligohydramnios, Cholecystitis, Death in infancy, Splen... OMIM:615512
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, ... ORPHA:97297
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Atherosclerosis, Transient ischemic attack, Ischemic stroke, Cerebral i... ORPHA:1830
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cyanosis, D... OMIM:252010
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... OMIM:256550
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Cerebral berry aneurysm, Mitral regurgitation, Mitral valve prolapse, Hypertension OMIM:173900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Congestive heart failure, Tricuspid regurgitation, ... ORPHA:508542
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Spontaneous pneumothorax, Pulmonary artery dilatation,... ORPHA:558
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Abnormal lung lobation, Anomalous origin of left pulmonary... ORPHA:141127
Illum Syndrome
Bradycardia OMIM:208155
Citrullinemia Type Ii
Hepatic fibrosis, Mania, Elevated circulating hepatic transaminase concentration, Abnormal eating... ORPHA:247585
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Bradycardia, Jaundice, Patent ductus arteriosus OMIM:617248
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Graves Disease
Congestive heart failure OMIM:275000
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:100075
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Hepatomegaly, Pulmonary arterial hypertension, Atrial se... OMIM:608149
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Prolonged pr... OMIM:616271
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Bruising susceptibility, Poor wound healing, Atrial septal defect OMIM:619115
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Hepatosplenomegaly, Hypersplenism, High-output congesti... ORPHA:231226
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Ascites OMIM:602361
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi... OMIM:616564
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Nonimmune hydrops fetalis OMIM:166210
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... OMIM:153400
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Lethargy, Pancreatitis ORPHA:289916
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Venous malformation, Spinal a... ORPHA:90307
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Lethargy OMIM:250940
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Lethargy, Decreased liver function OMIM:238970
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Erythema, Cardiomyopathy, Bundle branch block, Angina pe... ORPHA:93672
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu... ORPHA:90348
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Pancreatic c... ORPHA:51608
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf... ORPHA:116
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly, Agitation OMIM:619046
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Lethargy, Melena, Acute pancreatitis ORPHA:319218
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Dermatomyositis
Erythema, Lung adenocarcinoma, Arrhythmia, Periorbital edema, Cutaneous photosensitivity, Vasculi... ORPHA:221
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Medulloblastoma
Lethargy, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concentration, Neoplas... ORPHA:616
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Pulmonary artery dilatation, Aortic root aneu... OMIM:154700
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Death in childhood, Sinus bradycardia OMIM:618397
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Riboflavin Deficiency
Lethargy OMIM:615026
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Mitral regurgitation, Mitral valve prolapse, Pleuritis, Pericarditis ORPHA:2848
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abno... ORPHA:100924
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hydranencephaly
Dilatation of the ventricular cavity, Abnormal internal carotid artery morphology, Abnormal cereb... ORPHA:2177
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, Pr... OMIM:618280
Refsum Disease
Splenomegaly, Cardiomyopathy, Heart block ORPHA:773
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy ORPHA:2609
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Respiratory tract infection, Arrhythmia, Lethargy, Cerebral edema ORPHA:68
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereotypical hand wringing... ORPHA:163681
Alstrom Syndrome
Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentrat... OMIM:203800
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Poor wound healing, Cardiomyopathy, Mitral regurgitation, Telangiectasia ... OMIM:212112
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Bruxism, Irritability, Motor stereotypy, P... OMIM:615873
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Joubert Syndrome 33
Splenomegaly OMIM:617767
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Palmoplantar cutis laxa, Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnorm... ORPHA:699
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Arterial occlusion, Cardiomyopathy, Cuti... ORPHA:416
Breath-Holding Spells
Cyanosis OMIM:607578
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Situs... OMIM:267010
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Hepatosplenomegaly, Hypersplenism, High-output congesti... ORPHA:231214
Renal Hypoplasia, Bilateral
Lethargy, Oligohydramnios, Hypertension, Edema ORPHA:97362
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis m... ORPHA:48435
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Rauch-Steindl Syndrome
Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insufficiency, Aggressive... OMIM:619695
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lethargy, Hepatomegal... OMIM:201450
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Edema, Pneumothorax, Fragile skin, Bradycardia, Dehydration ORPHA:79404
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ... OMIM:251880
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Sialuria
Hepatomegaly, Attention deficit hyperactivity disorder, Splenomegaly, Increased level of N-acetyl... OMIM:269921
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Orthostatic hypotension, Abnormal peritoneum morphology... ORPHA:1764
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hepatic failure, Sinus tachycardia, Decreased liver functio... ORPHA:466650
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anasarca, Congestive heart failure OMIM:260450
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... OMIM:618314
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega... ORPHA:85450
Multiple Mitochondrial Dysfunctions Syndrome 7
Lethargy, Partial atrioventricular canal defect, Cyanosis, Decreased liver function OMIM:620423
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... OMIM:616843
Yellow Fever
Abnormal bleeding, Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Ele... ORPHA:99829
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator... OMIM:612541
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Hep... OMIM:239200
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Dysphagia, Prolonged neonatal ... OMIM:607625
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hypercalcemia, Infantile, 1
Lethargy, Dehydration OMIM:143880
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Arrhythm... ORPHA:228308
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Ventricular septal defect,... OMIM:608328
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Stroke, Cerebral edema, Lethargy OMIM:237300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, A... OMIM:242840
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Death in childhood OMIM:615838
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Trichinellosis
Facial edema, Central retinal artery occlusion, Retinal hemorrhage, Lethargy, Apathy, Periorbital... ORPHA:863
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Emotional lability, Splenomegaly, Irritability OMIM:201100
Immunodeficiency 10
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyt... OMIM:612783
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Familial Hypoaldosteronism
Lethargy, Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios OMIM:263630
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j... OMIM:170100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Foam cells, Hypoxemia ORPHA:747
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... ORPHA:98908
Alobar Holoprosencephaly
Depression, Aspiration pneumonia, Abnormal heart morphology, Lethargy, Apathy, Abnormal heart rat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Aspiration pneumonia, Abnormal heart morphology, Lethargy, Apathy, Abnormal heart rat... ORPHA:93926
Lobar Holoprosencephaly
Depression, Aspiration pneumonia, Abnormal heart morphology, Lethargy, Apathy, Abnormal heart rat... ORPHA:93924
Semilobar Holoprosencephaly
Depression, Aspiration pneumonia, Abnormal heart morphology, Lethargy, Apathy, Abnormal heart rat... ORPHA:220386
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Aspiration pneumonia, Abnormal heart morphology, Congestive heart failure, ... ORPHA:444077
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Congestive heart failure ORPHA:2505
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Plethora, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Recurrent infections due to aspiration, Orthostatic hypotension, Tachycardia, Acroc... OMIM:223900
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Citrullinemia Type I
Lethargy, Hepatic failure ORPHA:247525
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Recurrent respiratory infections, Xerostomia, Atrial septal defect ORPHA:398069
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Susac Syndrome
Lethargy, Apathy ORPHA:838
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Tarp Syndrome
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Atrial septal defect, Pulmonar... ORPHA:2886
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Hypoplastic spleen, Th... OMIM:617053
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Subcutaneous calcification, Abnormal cerebral ... ORPHA:79474
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase... OMIM:256040
Aceruloplasminemia
Apathy, Elevated hepatic iron concentration, Abnormal pancreas morphology, Congestive heart failure ORPHA:48818
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Irritability, Anemia, Lymphadenopathy, Thrombocytopen... OMIM:267700
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Abnormality of the pulmonary vasculature, Arrhythmia, Varico... ORPHA:33001
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Con... ORPHA:14
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Lethargy, Prolonged neonatal jaundice, Bradycardia ORPHA:226307
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Williams Syndrome
Death in early adulthood, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect,... ORPHA:904
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Fucosidosis
Vascular skin abnormality, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Acrocyanosis ORPHA:349
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hepatosplenomegaly OMIM:611590
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Maple Syrup Urine Disease, Type Ia
Cerebral edema, Lethargy, Pancreatitis OMIM:248600
Dravet Syndrome
Bradykinesia, Cyanotic episode ORPHA:33069
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... OMIM:301068
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Coarctation of aorta, Polyh... ORPHA:1199
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Leigh Syndrome
Hypertrophic cardiomyopathy, Hepatic failure, Congestive heart failure, Ventricular septal defect ORPHA:506
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Arteri... OMIM:130050
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Depression, Congestive heart failure ORPHA:428
Majeed Syndrome
Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Congenital hypoplastic anemia, Hypochrom... ORPHA:77297
Geleophysic Dysplasia 1
Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension... OMIM:231050
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Hypotension OMIM:608643
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Elevated circulatin... OMIM:261680
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... ORPHA:568051
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Dilatatio... ORPHA:287
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Spontaneous pneumothorax, Vertebral artery aneurysm, Bruising susceptibi... OMIM:619656
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Abnormal l... ORPHA:33276
Late-Onset Isolated Acth Deficiency
Lethargy, Hypotension, Hepatitis, Orthostatic hypotension ORPHA:199299
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Pedal edema, Congestive heart failure ORPHA:247353
Posterior Urethral Valve
Lethargy, Oligohydramnios, Hypertension ORPHA:93110
Homozygous Familial Hypercholesterolemia
Mitral regurgitation, Hepatic steatosis, Premature arteriosclerosis, Calcification of the aorta, ... ORPHA:391665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Recurrent pneumonia, Poor wound healing, Bruising susceptibility, Co... OMIM:225400
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Aortic root aneurysm, Emphysema, Tricuspid regurgitation, ... ORPHA:284979
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy... OMIM:611881
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prol... OMIM:602782
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul... OMIM:300972
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Supraventricular tachycardia, Cutaneous photosensitivity, Cardiac myxom... OMIM:181270
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa... OMIM:611174
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... ORPHA:500095
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Livedoid Vasculopathy
Poor wound healing, Macular purpura, Cutis marmorata, Ischemic stroke, Venous insufficiency, Ecch... ORPHA:542643
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormal heart morp... ORPHA:84064
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Dihydropyrimidinase Deficiency
Elevated circulating aspartate aminotransferase concentration, Lethargy, Elevated circulating ala... OMIM:222748
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Lysinuric Protein Intolerance
Hepatic failure, Elevated circulating hepatic transaminase concentration, Intraalveolar phospholi... ORPHA:470
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... ORPHA:2255
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Hydronep... ORPHA:1655
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Elevated circulating hepatic transaminase concentration ORPHA:2089
Incontinentia Pigmenti
Erythema, Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arte... ORPHA:464
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Edema ORPHA:226316
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis... ORPHA:79240
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Diamond-Blackfan Anemia
Abnormal heart morphology, Radial artery aplasia, Nonimmune hydrops fetalis, Ventricular septal d... ORPHA:124
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Lethargy, Depression ORPHA:99832
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Splenomegaly, Pancreatic islet-cell hyperplasia, Nephro... OMIM:312870
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Pleural effusion, Ca... OMIM:182250
Tuberous Sclerosis Complex
Chronic kidney disease, Self-injurious behavior, Depression, Stage 5 chronic kidney disease, Rena... ORPHA:805
Citrullinemia, Classic
Stroke, Lethargy, Cirrhosis, Hepatomegaly, Cerebral edema OMIM:215700
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Supraventricular arr... ORPHA:91347
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Diamond-Blackfan Anemia 1
Congestive heart failure, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, ... OMIM:105650
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Acute hepatic steatosis OMIM:210200
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating aspartate aminotransferase concentration, Stroke, Lethargy, Elevated circula... OMIM:311250
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Oligohydramnios, Reduce... OMIM:617402
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... ORPHA:402075
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Depression, Elevated circulating hepatic transaminase concentration, Conges... OMIM:619475
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Cutis marmorata, Ventricular ... OMIM:100300
Holocarboxylase Synthetase Deficiency
Lethargy ORPHA:79242
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Moyamoya ph... ORPHA:51
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Recurrent respiratory infections, Xerostomia ORPHA:398079
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Macrocytic anemia, Attention deficit hyperactivity disorder, Hyperactivity, Dilatati... OMIM:614294
Wilson Disease
Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas... OMIM:277900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Anasarca, Ascites, Pleural effusion, Respiratory tract infectio... ORPHA:567546
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Congenital Myasthenic Syndrome
Polyhydramnios, Recurrent respiratory infections, Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, Recurrent respiratory infections, Cyanosis ORPHA:98914
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph... OMIM:617591
Gaucher Disease, Type Ii
Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Dysphagia OMIM:230900
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hepatic ste... OMIM:229600
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar... OMIM:614185
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia... OMIM:615688
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Budd-Chiari syndrome, Stroke, Lethargy, Jaundice, Hypertension, Myocardial in... ORPHA:447
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph... OMIM:617913
Myasthenia Gravis
Hepatitis, Acrocyanosis, Raynaud phenomenon ORPHA:589
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Lethargy, Dehydration OMIM:251100
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries... ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233710
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Depression, Decreased liver function, Hypersplenism, Splenomegal... ORPHA:77293
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Splenomegaly, Nephroblastoma OMIM:612918
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... OMIM:616084
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Depression, Acute hepatic failure, Ascites, Leukocytosis, Splenome... ORPHA:342
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233690
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... OMIM:608594
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenome... OMIM:620565
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy OMIM:607483
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S... ORPHA:1572
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Cartilage-Hair Hypoplasia
Cardiomyopathy, Abnormal cardiac septum morphology, Hepatomegaly, Abnormality of the pancreas, He... ORPHA:175
Rh Deficiency Syndrome
Hepatosplenomegaly, Oligohydramnios, Jaundice, Tachycardia, Hypoxemia, Miscarriage ORPHA:71275
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly OMIM:231005
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Bruising susceptibility, Arterial t... ORPHA:284984
Multiple Endocrine Neoplasia Type 1
Depression, Shortened QT interval, Insulinoma, Lethargy, Hematemesis, Melena, Hypertension, Neopl... ORPHA:652
Sarcoidosis
Hepatic failure, Chylothorax, Decreased liver function, Emphysema, Abnormal pleura morphology, Pl... ORPHA:797
Argininosuccinic Aciduria
Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Lethargy, Hepato... OMIM:207900
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp... ORPHA:186
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Epistaxis, Depression, Aortic root aneurysm, Bruising susceptibility, Mitral... ORPHA:285
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Choreoacanthocytosis
Acanthocytosis, Emotional lability, Hair-pulling, Elevated circulating alanine aminotransferase c... ORPHA:2388
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cel... OMIM:102700
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutr... OMIM:249100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Ab... ORPHA:309854
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... OMIM:269700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Lethargy OMIM:615751
Milroy Disease
Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose veins, Peda... ORPHA:79452
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Neonatal death, ... OMIM:617925
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Lethargy, Chronic hepatic failure ORPHA:469
Gray Platelet Syndrome
Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Biotinidase Deficiency
Hepatomegaly, Lethargy, Splenomegaly OMIM:253260
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... ORPHA:158048
Niemann-Pick Disease Type C
Hepatic failure, Depression, Fetal ascites, Ascites, Hepatosplenomegaly, Abnormality of the liver... ORPHA:646
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Abnormal lung lobation, Abnormal heart morphology, Atrioventricular ... ORPHA:508488
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Exocrine pancreatic insufficien... OMIM:219800
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Stroke, Lethargy ORPHA:395
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior, Nephrolithiasis OMIM:219090
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity, Hyperechogenic... OMIM:620047
Transcobalamin Ii Deficiency
Hepatomegaly, Lethargy OMIM:275350
Hallermann-Streiff Syndrome
Abdominal situs inversus, Congestive heart failure ORPHA:2108
Brucellosis
Depression, Intrarenal abscess, Hypersplenism, Abnormality of the liver, Leukopenia, Leukocytosis... ORPHA:1304
Carney Complex
Bruising susceptibility, Congestive heart failure, Dilatation of the cerebral artery, Dorsocervic... ORPHA:1359
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Arteriovenous malformation, Anasarca, Abnor... ORPHA:2929
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Aspiration pneumonia OMIM:619482
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn... OMIM:222700
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ... OMIM:306400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Porphyria, Congenital Erythropoietic
Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u... OMIM:263700
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Reynolds Syndrome
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope... OMIM:613471
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Recurrent lower respiratory tract infections, Death in childhood, Death in infancy OMIM:618426
Multiple Myeloma
Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome, Abno... ORPHA:29073
Joubert Syndrome 21
Renal cyst, Dysphagia, Splenomegaly, Hyperechogenic kidneys OMIM:615636
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Proteus-Like Syndrome
Bronchogenic cyst, Splenomegaly, Subcutaneous lipoma, Venous insufficiency ORPHA:2969
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Biotinidase Deficiency
Lethargy ORPHA:79241
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymphadenopathy, Anorexia, Hepatomegaly, ... OMIM:181000
Alström Syndrome
Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Abnormal coronary artery physiolo... ORPHA:64
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Arterial stenosis, Venous insufficiency, Vasc... ORPHA:565
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Depression, Elevated circulating hepatic transamina... ORPHA:293987
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular sep... OMIM:236680
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormality of the urinary system, Abnormal fear-induced behavior, Recur... ORPHA:353281
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Glycerol Kinase Deficiency
Lethargy, Chronic pancreatitis OMIM:307030
Kufor-Rakeb Syndrome
Lethargy, Bradykinesia, Apathy ORPHA:306674
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormality of the urinary system, Abnormal fear-induced behavior, Recur... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormality of the urinary system, Abnormal fear-induced behavior, Recur... ORPHA:353277
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Mitral regurgitation OMIM:303600
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Glycine Encephalopathy
Lethargy ORPHA:407
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Multiple Osteochondromas
Pneumothorax, Hemothorax, Pseudoaneurysm ORPHA:321
Clapo Syndrome
Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Foix-Alajouanine Syndrome
Venous malformation, Arteriovenous fistula ORPHA:79093
Familial Cerebral Cavernous Malformation
Venous malformation, Vascular skin abnormality, Cerebral hemorrhage ORPHA:221061
Pineoblastoma
Lethargy ORPHA:251909
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Gen... ORPHA:83454
Occipital Horn Syndrome
Bruising susceptibility, Hepatitis, Cholestasis, Venous insufficiency, Vascular dilatation, Jaundice ORPHA:198
Microphthalmia With Limb Anomalies
Death in infancy, Venous insufficiency ORPHA:1106
Norrie Disease
Venous insufficiency ORPHA:649

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 Epha3

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 Epha3.

No publications found that use IMPC mice or data for Epha3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Epha3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Epha3em1(IMPC)Mbp Exon Deletion Mice
Epha3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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