Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... |
OMIM:613642 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch... |
OMIM:616500 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils, Endocardia... |
ORPHA:111 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Reduced l... |
OMIM:614096 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... |
OMIM:618378 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV,... |
OMIM:616198 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... |
ORPHA:63273 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Decreased activity of mitochondrial complex I, Congestive heart failure, Decreased activity of mi... |
OMIM:616794 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Arrhy... |
ORPHA:157973 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Abnormality of the mitochondrion, Hypertrophic car... |
ORPHA:91130 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa... |
OMIM:615440 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Decreased activity of mitochondrial complex IV, Cardiomyopa... |
OMIM:255100 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Myopathy, Decreased activity of mitocho... |
OMIM:618234 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Weight loss, ... |
OMIM:613662 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... |
ORPHA:263297 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:616045 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocyto... |
OMIM:260400 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, D... |
OMIM:613561 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Dec... |
OMIM:619048 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... |
OMIM:602541 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... |
ORPHA:352470 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy |
OMIM:613313 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Azoospermia, Cardiomyopathy, Arrh... |
OMIM:602390 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... |
OMIM:115197 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Decreased activity of mitochondrial complex I, Congestive heart failure |
OMIM:301021 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Failure to thrive |
ORPHA:796 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Anemia, Abnormality of th... |
ORPHA:298 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... |
OMIM:620135 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Decreased activity of mitochondrial complex IV, Left ventricular nonco... |
OMIM:615917 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:613752 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... |
ORPHA:352447 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Decreased plasma total carnitine, Dist... |
ORPHA:42 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Failure to thrive |
OMIM:619651 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, C... |
ORPHA:49827 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypertension, Limb muscle weakness |
ORPHA:97229 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopathy, Reduced m... |
OMIM:212140 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertension |
OMIM:615703 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... |
OMIM:612937 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Decreased activity of mitochondrial complex I, Hypertrophic cardio... |
OMIM:618237 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... |
OMIM:616866 |
Atransferrinemia |
|
Congestive heart failure, Hypochromic anemia |
OMIM:209300 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia, Camptodactyly |
OMIM:619751 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochond... |
OMIM:618236 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Abnormality of neutrophils |
ORPHA:154 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Decreased activity of mitochondrial complex IV, Abnormal heart morpholo... |
ORPHA:70472 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Decreased activity of mito... |
OMIM:252011 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Decreased activity of... |
OMIM:617184 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction |
ORPHA:132 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... |
ORPHA:171442 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Decreased activity of mitochondrial complex IV, Cachexia, Weight loss |
OMIM:612075 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex |
OMIM:614053 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Decreased activit... |
OMIM:615418 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... |
ORPHA:52430 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F... |
ORPHA:367 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Sideroblastic anemia, Abnormal iron deposition in mitochondria, Rhabdomy... |
OMIM:255125 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Mcdonough Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Decreased activity of mi... |
OMIM:616501 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Congestive heart failure, Atrial septal defect, Failure ... |
ORPHA:500533 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial palsy, Cardiogenic... |
OMIM:619424 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Increased red blood cell count, Arrhythmia, Facial palsy |
ORPHA:68 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Cryptorch... |
ORPHA:1194 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Decreased activity of mitochondrial complex IV, Decreased a... |
OMIM:212350 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Dilated cardiomyopathy, Decrea... |
OMIM:618097 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Myopathy |
ORPHA:26792 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... |
OMIM:613155 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Increased mitochondrial number, Macrocytic anemia, Decreased activity of... |
OMIM:615578 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618229 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Increased muscle lipid content, Myopathy |
OMIM:610717 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Failure to thrive |
OMIM:269920 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Failure to thrive, Skeleta... |
OMIM:619518 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur |
ORPHA:3400 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Cachexia, Myocarditis... |
ORPHA:3452 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity |
OMIM:620270 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia |
ORPHA:85278 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex I, ... |
OMIM:611126 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Cardiomyopathy, Joint contracture, Flexion contracture |
OMIM:608540 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia |
ORPHA:141179 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Restrictive cardio... |
OMIM:607685 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme... |
ORPHA:57777 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy |
OMIM:618243 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial c... |
OMIM:618250 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myop... |
OMIM:609015 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... |
OMIM:249270 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia |
ORPHA:141184 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Decreased activity of mitochondri... |
OMIM:615084 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... |
ORPHA:330001 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, Skeletal muscl... |
ORPHA:2348 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... |
ORPHA:1177 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Babesiosis |
|
Hemolytic anemia, Myocardial infarction, Congestive heart failure, Splenomegaly, Leukopenia, Thro... |
ORPHA:108 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... |
ORPHA:79083 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Azoospermia, Flexion contracture, Camptodactyly of finger |
ORPHA:261519 |
Proximal Myopathy With Extrapyramidal Signs |
|
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... |
ORPHA:401768 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Majeed Syndrome |
|
Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contracture, Hypochr... |
ORPHA:77297 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Azoospermia... |
OMIM:235200 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... |
ORPHA:254886 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ... |
ORPHA:746 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Decreased activity of mitochondrial complex I, Left ventricular hypertro... |
OMIM:618228 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, Pulmonic steno... |
ORPHA:2414 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy |
OMIM:232400 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Mitochondrial ma... |
OMIM:229300 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormalit... |
ORPHA:565612 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Decreased testicular size, Cachexia |
ORPHA:3242 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal cardiac septum morphology, Cachexia |
ORPHA:93941 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Internal hemorrhage, Splenic rupture, ... |
ORPHA:335 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly,... |
ORPHA:465508 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Failure to thriv... |
OMIM:615512 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Congestive heart failure, Leukocytosis, Dilated cardiomyopathy, Splenome... |
OMIM:615895 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology, Generalized amyotrophy |
ORPHA:275872 |
Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction |
ORPHA:60033 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Patent ductus arteri... |
ORPHA:79076 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop... |
OMIM:618815 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Decreased activity of mitochondrial complex I, Hypertrophic cardiomy... |
OMIM:618235 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... |
OMIM:618839 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ... |
OMIM:618186 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Achalasia |
ORPHA:3386 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failure, Oligozoospermi... |
ORPHA:85450 |
Rett Syndrome |
|
Abnormal T-wave, Cachexia, Prolonged QTc interval, Skeletal muscle atrophy |
OMIM:312750 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:94080 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:2047 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:79312 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Decreased activity of the py... |
OMIM:616277 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea... |
ORPHA:26791 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Anemia |
OMIM:606069 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1933 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Decreased activity of mitochondrial complex I, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Abnormal mitochondrial shape, Patent ductus arteriosus, Ragged-red muscl... |
ORPHA:17 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... |
ORPHA:300605 |
Mulibrey Nanism |
|
Congestive heart failure, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... |
ORPHA:185 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Decreased activity of mitochondrial complex I, Cardiomyopathy, Failure to thrive, Decreased activ... |
ORPHA:324525 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Decreased plasma total carniti... |
ORPHA:228305 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Decreased circulating carnitine concentration |
ORPHA:79159 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Wolman Disease |
|
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells |
ORPHA:75233 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Congenital Generalized Lipodystrophy |
|
Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic cardiomyopathy,... |
ORPHA:528 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... |
ORPHA:98908 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Congestive heart failure, Leukocytosis, Weight loss, Constrictiv... |
ORPHA:67 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... |
OMIM:232500 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Decreased activity of mitochondria... |
OMIM:614702 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Abnormality of mitochondrial metabolism, Weight loss, Leukopenia, Fai... |
ORPHA:33355 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Decreased activi... |
ORPHA:506 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia |
ORPHA:2930 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ho... |
ORPHA:85443 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Cachexia, Anemia |
OMIM:175500 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular blo... |
OMIM:530000 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... |
OMIM:618835 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy, Macrocytic anemia, Failure to thrive |
OMIM:619046 |
Mcleod Syndrome |
|
Atrial fibrillation, Acanthocytosis, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Cardio... |
OMIM:300842 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomegaly, Decreased activity of mitochondrial complex IV, Decreased activity ... |
OMIM:617713 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Thrombocytopenia, Flexion contracture, Splenomegaly, Patent ductus arte... |
OMIM:617303 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas... |
ORPHA:354 |
Propionic Acidemia |
|
Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia, Failure to th... |
OMIM:606054 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure... |
ORPHA:1842 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex,... |
OMIM:618120 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem... |
OMIM:226670 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia |
ORPHA:90037 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Abnormal cardiac ventricular function, Failure to thrive, Decreased circulating c... |
ORPHA:2394 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Anemia |
ORPHA:27 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... |
ORPHA:308552 |
Gm1-Gangliosidosis, Type I |
|
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, ... |
OMIM:230500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia |
OMIM:618805 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations, Weight loss |
OMIM:188580 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... |
OMIM:605676 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Congestive heart failure, Obesity |
ORPHA:3077 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... |
ORPHA:35858 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Cryptorchidism, Patent d... |
OMIM:615355 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ... |
ORPHA:398124 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,... |
ORPHA:2326 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Failure to thrive, Shoulder girdle muscle weakness, Cachexia |
ORPHA:206436 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Decreas... |
OMIM:620167 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia, Failure to thrive, Facial palsy |
ORPHA:772 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... |
ORPHA:508542 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb... |
ORPHA:848 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased... |
ORPHA:813 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:619433 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Epistaxis, Abnormality of the musculature of the limbs, High-output congestive... |
ORPHA:137667 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyt... |
OMIM:256550 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Myop... |
ORPHA:109 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... |
ORPHA:521411 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Flexion contrac... |
ORPHA:505248 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, Myofiber disarray, Decreased activity of mitochondrial complex IV, Myopathy, Incr... |
OMIM:604377 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy, Decreased activity... |
OMIM:614299 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Ventricular septal defect, Cachexia |
ORPHA:217346 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Decreased activity of mito... |
OMIM:615471 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Transient ischemic attack, Small for gestational age, Congestive heart failure... |
ORPHA:1830 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism |
ORPHA:638 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology |
ORPHA:93476 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Aarskog-Scott Syndrome |
|
Congestive heart failure, Camptodactyly of finger, Cryptorchidism |
ORPHA:915 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:611719 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Chromosomal breakage induced by crosslinking ... |
OMIM:616435 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Sple... |
ORPHA:280365 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure, Decreased activity of mitochondrial compl... |
OMIM:619355 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy |
OMIM:618241 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive |
OMIM:201470 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:2198 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular ... |
ORPHA:3260 |
Tetrasomy 5P |
|
Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Heart murmur, Pul... |
ORPHA:3309 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex III, Decreased activity ... |
OMIM:619386 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Splenomegaly, Neutropenia in presence of anti-neut... |
ORPHA:525731 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Leukopenia, Hypertrophic cardiomyo... |
ORPHA:1328 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Ar... |
ORPHA:1900 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... |
ORPHA:33226 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II, ... |
OMIM:619167 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... |
OMIM:619705 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy |
OMIM:620326 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Pate... |
ORPHA:99050 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Avian Influenza |
|
Congestive heart failure, Rhabdomyolysis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Xfe Progeroid Syndrome |
|
Hypertension, Failure to thrive, Defective DNA repair after ultraviolet radiation damage, Cachexia |
OMIM:610965 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... |
OMIM:607155 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Flexion contracture, Leukopenia, Prolonged prothromb... |
OMIM:616271 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Abnormality of chromosome stability, Hemolytic anemia, Autoimmune hemoly... |
ORPHA:647 |
Vici Syndrome |
|
Lymphopenia, Failure to thrive, Congestive heart failure, Dilated cardiomyopathy, Decreased propo... |
OMIM:242840 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build |
OMIM:603041 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia |
ORPHA:79279 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosi... |
ORPHA:292 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia |
OMIM:617710 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251000 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Punctate vasculitis skin lesi... |
ORPHA:247691 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615279 |
Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Muscular edema |
ORPHA:3165 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Weight loss |
ORPHA:100024 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombo... |
ORPHA:37042 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Hypovolemia, Hepatosplen... |
ORPHA:275761 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo... |
ORPHA:579 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... |
OMIM:601992 |
Aredyld Syndrome |
|
Splenomegaly, Cachexia |
ORPHA:1133 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Pulmonary arterial hyp... |
ORPHA:220393 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:276621 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Anemia |
ORPHA:371 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomyopathy, Dilated cardiomyopa... |
OMIM:231530 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Tetralogy of Fallot, O... |
ORPHA:251071 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Thrombocytopenia, Leukopenia, Pulmonary arterial hypertension, Type 2 muscle fiber ... |
OMIM:613845 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Testicular atrophy, Thrombocytopenia |
OMIM:222300 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail... |
ORPHA:902 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... |
ORPHA:727 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight... |
OMIM:164310 |
Wilson Disease |
|
Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Anemia, Proximal muscle weak... |
ORPHA:905 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion contracture, Hep... |
OMIM:309900 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in infancy, Congesti... |
OMIM:601808 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture, Decreased activity of the pyruvate dehydrogenase ... |
OMIM:614462 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Decreased level of coenzyme ... |
OMIM:607426 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Failure to thrive, Cardiomegaly, Acanthocytosis, Congestive h... |
ORPHA:14 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability, Telangiectasia |
OMIM:181750 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Cachexia, Aortic valv... |
ORPHA:2072 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Decreased circulating carni... |
ORPHA:159 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, Splenomegaly, P... |
OMIM:608779 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle... |
ORPHA:800 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Large for gestational age |
OMIM:617757 |
Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Angina pectoris, Myocardial infarction |
OMIM:176670 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... |
ORPHA:49566 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Small for gestational age |
OMIM:166210 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... |
ORPHA:100075 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100080 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy |
OMIM:617183 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
Dietary Iron Overload Disease |
|
Congestive heart failure, Hepatic periportal necrosis, Abnormal heart morphology |
ORPHA:139507 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:246900 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemi... |
ORPHA:507 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardiogenic shock,... |
ORPHA:31824 |
Aceruloplasminemia |
|
Refractory anemia, Congestive heart failure, Torticollis, Hypochromic microcytic anemia |
ORPHA:48818 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Congestive heart failure, Weight loss, Abnormal aortic valve mor... |
ORPHA:35687 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... |
ORPHA:550 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosis, Red... |
OMIM:201475 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:369 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Abnormal granulocyte morpholo... |
ORPHA:98907 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly |
OMIM:616651 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Alstrom Syndrome |
|
Hypertension, Dilated cardiomyopathy, Truncal obesity, Congestive heart failure |
OMIM:203800 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Weight loss |
ORPHA:50251 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch ... |
OMIM:617403 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100082 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia |
ORPHA:188 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... |
ORPHA:258 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... |
OMIM:607598 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Microsporidiosis |
|
Myositis, Cachexia, Abnormality of the spleen, Myocarditis, Endocarditis, Weight loss, Decreased ... |
ORPHA:2552 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, We... |
OMIM:619487 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cr... |
ORPHA:3380 |
Stiff-Person Syndrome |
|
Tachycardia, Anemia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffne... |
OMIM:184850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Martsolf Syndrome 1 |
|
Cryptorchidism, Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, S... |
ORPHA:26793 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Anemia, Hypertrophic cardiomyopathy, Failure to thrive, Skeletal muscle steatosis |
ORPHA:436271 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss |
ORPHA:79238 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Vasculitis, Weight loss |
OMIM:180300 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Diastasis recti, Cardiomegaly, Congestive heart failure, Splenomegaly, Hear... |
OMIM:252500 |
Refsum Disease |
|
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly |
ORPHA:773 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Polycythemia, Perimembranous ventricular septal defect, Fa... |
OMIM:606812 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertension, Congestive heart failure, Elevated hemoglobin A1c |
OMIM:617253 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Abn... |
OMIM:600901 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Sple... |
ORPHA:264580 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Rhabdomyolysis, Renal tubular epithelial necrosis, Cardiomyopathy, Myopathy, Decreased plasma tot... |
ORPHA:157 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale |
OMIM:614582 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita |
ORPHA:79321 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block... |
ORPHA:29072 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Weight loss, Hematochezia, Anemia |
ORPHA:2070 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... |
OMIM:616084 |
Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... |
ORPHA:71493 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Prolonged prothrombin time |
OMIM:616483 |
Felty Syndrome |
|
Pericarditis, Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thr... |
ORPHA:47612 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Prolonged prothrombin time, Failure to thrive, Muscular dystrophy |
ORPHA:88618 |
Pyomyositis |
|
Myositis, Sudden cardiac death, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly |
OMIM:619902 |
Generalized Pustular Psoriasis |
|
Overweight, Congestive heart failure, Leukocytosis, Obesity, Lymphopenia |
ORPHA:247353 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature, Hypertrophic cardiomyo... |
OMIM:220110 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmonic... |
OMIM:610733 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Abn... |
OMIM:227650 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Cachexia, Congestive heart failure, Mitral v... |
ORPHA:558 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... |
OMIM:230800 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Lower limb amyotrophy |
ORPHA:496790 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Noonan Syndrome 5 |
|
Large for gestational age, Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, H... |
OMIM:611553 |
Carney Complex, Type 1 |
|
Congestive heart failure, Cardiac myxoma |
OMIM:160980 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... |
ORPHA:244242 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:86893 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Decr... |
ORPHA:71212 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Anemia |
OMIM:608068 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Small for gestational age, Cryptorchidism, Thrombocytope... |
OMIM:227645 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:544469 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cardiomyopa... |
OMIM:605275 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Portal hypertension, Eosinophilia, Abnormal skeletal muscle morp... |
ORPHA:284 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Weight loss |
OMIM:617321 |
Costello Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Mitral valve prolapse, M... |
ORPHA:3071 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Thrombocytopenia |
ORPHA:90060 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:97287 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect,... |
OMIM:612541 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... |
OMIM:203300 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... |
ORPHA:391487 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Thrombocytopeni... |
ORPHA:781 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... |
ORPHA:254892 |
Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... |
OMIM:231050 |
Noonan Syndrome 6 |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmonic stenosis |
OMIM:613224 |
Castleman Disease |
|
Weight loss, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocytopenia |
ORPHA:160 |
Listeriosis |
|
Pericarditis, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, Hepatic granul... |
ORPHA:533 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Decreased activity of mitochondrial complex IV, Decreased activity of mi... |
OMIM:616539 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Splenomegaly, Vasculitis, Cardiomyopathy, Thrombocytopenia, Purpura |
OMIM:225750 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... |
OMIM:616897 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Portal hypertension, Spider hemangioma, Congestive heart failure,... |
ORPHA:171 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Myopathy |
OMIM:614922 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath... |
ORPHA:79086 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hematemesis, Pericardial effusion, Thrombocytopenia, Vasculitis, ... |
OMIM:615846 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Abnormality of neutrophils, Myocardial infarct... |
ORPHA:36426 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormality of mitochondrial metabolism, Cardiomegaly |
ORPHA:391428 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy, Anemia |
ORPHA:3463 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Iron deficiency a... |
ORPHA:100078 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O... |
ORPHA:79102 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypertrophic cardiomyopathy,... |
OMIM:612938 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Cachexia, Cryptorchidism, Splenomegaly, Retinal hemorrhage, Hypertension... |
ORPHA:191 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... |
ORPHA:2331 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Cardiomegaly, Microcytic ane... |
OMIM:256040 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:5 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Eosinophilia, Congestive heart failure, Reti... |
ORPHA:464 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Prolonged prothrom... |
ORPHA:20 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Lymphopenia, Scapular winging, Cryptorchidism, Mitral valve prolapse, Pulmo... |
OMIM:619745 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Hypotension, Leydig cell... |
ORPHA:361 |
Isolated Atp Synthase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Rat-Bite Fever |
|
Pericarditis, Myocarditis, Endocarditis, Tendonitis, Weight loss, Anemia |
ORPHA:31205 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Cryptorchidism |
ORPHA:2505 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Agel Amyloidosis |
|
Facial palsy, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Bruising susceptibility, Or... |
ORPHA:85448 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Splenomegaly, Increased variability in muscle fiber diameter, Myopathy, Normoc... |
OMIM:611881 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... |
OMIM:616878 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Torticollis, Weight loss, Lower limb muscle weakness, Anemia |
ORPHA:370348 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle... |
ORPHA:2020 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Abnormal heart morphology, Weight loss, Splenic cys... |
ORPHA:400 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Weight loss, Cardiomyopathy, Neutropen... |
ORPHA:79430 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Eosinophilia, Myocarditis, Weight loss, Lymphocytosis |
ORPHA:139402 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Mitral valve prolapse, Macroglossia, Arrhythmia, Slender build |
ORPHA:828 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
ORPHA:73224 |
Isolated Complex I Deficiency |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Failure to thrive, Ab... |
ORPHA:2609 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... |
OMIM:187300 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Anemia, Weight loss |
ORPHA:324964 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, ... |
ORPHA:255210 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Heart block, Decreased plasma free carnitine, Renal tubular epithelial necrosis, Ca... |
ORPHA:228308 |
Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, L... |
ORPHA:99867 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Decreased activity of mitochondrial ATP synthase complex, Small for gestational age, Cryptorchidi... |
OMIM:614052 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616482 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Abnormal skeletal muscle morphology |
ORPHA:142 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Heart block, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:175 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Splenomegaly, Ragged-red muscle fibers, Concentric hypertrophic cardiomy... |
OMIM:252010 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Thrombocytopenia, Weight loss, Neutropenia, Ab... |
ORPHA:537 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Weight loss |
ORPHA:103910 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age |
OMIM:613706 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy, Prolonged prothrombin ti... |
OMIM:212065 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia |
ORPHA:572798 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Aortic valve stenosis, Pulmonic stenosis, H... |
OMIM:615415 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
X-Linked Agammaglobulinemia |
|
Weight loss, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
ORPHA:47 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:545 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenomegaly, Cardiomy... |
ORPHA:93473 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:619383 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Hurler Syndrome |
|
Aortic regurgitation, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardiomyopathy, Mitr... |
OMIM:607014 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... |
ORPHA:117 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Weight loss |
ORPHA:171876 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... |
OMIM:154700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Car... |
ORPHA:365 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture, Macroglossia... |
OMIM:253220 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Red... |
ORPHA:90362 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Obesity, Abnormal ... |
ORPHA:444077 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia, Arrhyt... |
ORPHA:397 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Flexion contracture, Weight loss, Cardiac diverticulum |
ORPHA:144 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Increased mean corpuscula... |
ORPHA:33364 |
Proteus Syndrome |
|
Decreased muscle mass, Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Pulmonary e... |
ORPHA:744 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia |
ORPHA:71273 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:42642 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal testis morphology, Anemia, Weight loss |
ORPHA:54251 |
Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
Nephroblastoma |
|
Hypertension, Weight loss |
ORPHA:654 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Weight loss |
ORPHA:411703 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... |
ORPHA:99826 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Small for gestational age |
OMIM:616051 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy |
OMIM:619053 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Anemia |
ORPHA:139411 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Flexion contracture, Weight loss, Cardiac diverticulum |
ORPHA:440437 |
Friedreich Ataxia |
|
Hand muscle atrophy, Cardiomyopathy |
ORPHA:95 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Small for gestational age, Orchitis, Myocarditis, Leukoc... |
ORPHA:1304 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Abnormal heart morphology, Weight loss, Lower-limb joint contracture, Arthrogryposis... |
ORPHA:99885 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral regurgitation,... |
OMIM:253200 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology, Cryptorchidism |
OMIM:217980 |
Poems Syndrome |
|
Thrombocytosis, Pericardial effusion, Weight loss, Pulmonary arterial hypertension, Polycythemia |
ORPHA:2905 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Weight loss, Hypoten... |
ORPHA:199299 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Telangiectasia of the skin, Congestive heart failure,... |
ORPHA:79474 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypertrophic cardiomyopathy |
OMIM:618810 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Hypertrophic cardi... |
OMIM:276700 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Splenomegaly, Portal hypertension, Weight loss |
ORPHA:131 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Fa... |
ORPHA:2131 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure, Failure to thrive |
ORPHA:94147 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Overweight, ... |
OMIM:619475 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Weight loss |
ORPHA:221098 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... |
ORPHA:904 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse,... |
ORPHA:90307 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renovascular hypertension, Large vessel vasculitis, Hydrocele testis, Hyperten... |
ORPHA:49041 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Patent ductus arteriosus, Large for gestational age |
OMIM:615398 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Cryptorchidism, ... |
ORPHA:84 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Weight loss, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosi... |
OMIM:212750 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Cardiomyopathy, Hepatosplenomegaly |
ORPHA:79255 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis |
ORPHA:134 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Splenomegaly, Prolonged prothrombin time, Hypertrophic cardiomyopathy, Polyc... |
ORPHA:309854 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Failure to thrive |
OMIM:617156 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture |
OMIM:225400 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy |
OMIM:618222 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilatation of the ventricular ca... |
ORPHA:90349 |
Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication, F... |
ORPHA:416 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:391 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure |
OMIM:181270 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... |
OMIM:608710 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Hypo... |
ORPHA:95409 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Prolonged prothrombin time |
OMIM:618329 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217085 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Weight loss |
ORPHA:168816 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Cardiac conduction abnormality, Thrombo... |
ORPHA:699 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss |
ORPHA:33276 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217093 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Raynaud phenomenon, Orchitis, Weight loss, Cardiomyopathy,... |
ORPHA:48435 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Abnormal hear... |
ORPHA:580 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Splenomegaly, Hepatosplenomega... |
ORPHA:3385 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Weight loss |
ORPHA:79242 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Orthostatic hypotension due to autonomic dysfunction, Hypomimic face |
ORPHA:411602 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage, Lower limb muscle weakness, Pers... |
ORPHA:247245 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Heart murmur, Weight loss, Palpitations, Facial telangiectasia |
ORPHA:100085 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III, Hypert... |
OMIM:124000 |
Hallermann-Streiff Syndrome |
|
Congestive heart failure, Cryptorchidism |
ORPHA:2108 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, ... |
ORPHA:50918 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97286 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Failure to thrive, Pulmonary venous hypertension, Weight loss |
ORPHA:79128 |
Adrenocortical Carcinoma |
|
Hypertension, Increased body weight, Palpitations, Weight loss |
ORPHA:1501 |
Gerstmann-Straussler Disease |
|
Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Cryptorchidism, Mi... |
OMIM:151100 |
Toriello-Carey Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pul... |
ORPHA:3338 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmo... |
OMIM:607721 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:373 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect |
ORPHA:769 |
Yellow Fever |
|
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Excessive bleeding after a v... |
ORPHA:99829 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h... |
OMIM:614162 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Subdural hemorrhage, Retinal hemorrha... |
ORPHA:90324 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Failure to thrive in infancy, Cryptorchidism, Pulmonic stenosis,... |
ORPHA:1340 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Dilatation of the ventricul... |
ORPHA:90348 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Small... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Small... |
ORPHA:363958 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Flexion contracture, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Carney Complex |
|
Testicular neoplasm, Cardiac myxoma, Congestive heart failure, Testicular adrenal rest tumor, Inc... |
ORPHA:1359 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme level, Dilated... |
ORPHA:2388 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hemoglobin A1c, Splenomegaly, Generalized muscular appearance from birth, Ventricular se... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth |
OMIM:608594 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Weight loss, Telangiectasia, Chromosoma... |
ORPHA:420741 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Cardiomegaly, Cryptorchidism, Macroglossia, Cardiomyopathy |
OMIM:130650 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Anemia, Weight loss |
OMIM:619377 |
Addison Disease |
|
Normocytic anemia, Orthostatic hypotension, Primary testicular failure, Thiamine-responsive megal... |
ORPHA:85138 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopat... |
ORPHA:2556 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... |
ORPHA:740 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Mitral valve prolapse, Hematochezia, Telangiectasia, Mitral regurgitation, Anemia |
OMIM:175050 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive c... |
ORPHA:369837 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thro... |
ORPHA:51 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula... |
OMIM:163950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Decreased activity of mitochond... |
OMIM:220111 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Weight loss |
ORPHA:29207 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Normochromic anemia, Weight loss, Acanthocytosis |
ORPHA:97280 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, Cryptorchidism,... |
ORPHA:116 |
Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Eosin... |
ORPHA:797 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Caroli Disease |
|
Splenomegaly, Leukocytosis, Portal hypertension, Weight loss |
ORPHA:53035 |
Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... |
OMIM:218040 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss |
ORPHA:97283 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss |
ORPHA:33577 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular resistance, W... |
ORPHA:60025 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic a... |
OMIM:600268 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Hypertension,... |
ORPHA:3472 |
Zimmermann-Laband Syndrome 1 |
|
Splenomegaly, Cardiomyopathy, Patent ductus arteriosus |
OMIM:135500 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... |
OMIM:301074 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Achalasia, Failure to thrive, Hypoperistalsis |
ORPHA:1018 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Lymphopenia, Myocardial infarction, Leukocytosis, Increased body weight, Proximal amyotrophy, Wei... |
ORPHA:99889 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Cr... |
OMIM:312870 |
Vipoma |
|
Hematochezia, Normochromic anemia, Weight loss |
ORPHA:97282 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Leprechaunism |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to thrive, Decreased body weight |
ORPHA:508 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Pericardial effusion, Splenomegaly, Weight loss, Pulmonary arterial hypertension |
OMIM:181000 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight... |
ORPHA:2298 |
Malt Lymphoma |
|
Anemia, Weight loss |
ORPHA:52417 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal tubular epithelial necrosis, Weight loss, Vitreous hemorrhage, Normochro... |
ORPHA:91500 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Multiple Myeloma |
|
Splenomegaly, Anemia, Weight loss |
ORPHA:29073 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Large fo... |
ORPHA:96334 |
Nocardiosis |
|
Pericarditis, Abnormal heart valve morphology, Endocarditis, Weight loss |
ORPHA:31204 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss |
ORPHA:309031 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... |
OMIM:619381 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia, Myositis, Abnormality of the extraocular muscles, Weight loss |
ORPHA:79078 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage, Cardiac rhabdomyoma |
ORPHA:805 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, Weight loss, Myopathy |
OMIM:219800 |
Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Weight loss |
ORPHA:913 |
Ppoma |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97278 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Acromegaly |
|
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
Parathyroid Carcinoma |
|
Shortened QT interval, Testicular neoplasm, Weight loss |
ORPHA:143 |
Somatomammotropinoma |
|
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:314769 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... |
ORPHA:97685 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Testicular adrenal rest tumor, Weight loss, Hypotension, Failure to thrive, D... |
ORPHA:90794 |
Alström Syndrome |
|
Portal hypertension, Testicular fibrosis, Congestive heart failure, Splenomegaly, Dilated cardiom... |
ORPHA:64 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Grfoma |
|
Gastrointestinal hemorrhage, Weight loss |
ORPHA:97261 |
Goodpasture Syndrome |
|
Weight loss, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Pericarditis, Arteritis, Weight loss |
ORPHA:449395 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo... |
ORPHA:286 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension |
ORPHA:652 |
Familial Pancreatic Carcinoma |
|
Weight loss, Hepatosplenomegaly |
ORPHA:1333 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Cryptorchidis... |
OMIM:216340 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Flexion contracture, Weight loss |
ORPHA:99921 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Decreased circulating carnitine concentration |
ORPHA:3337 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Intracranial he... |
ORPHA:79318 |