Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:179700 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... |
OMIM:620010 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:237800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... |
OMIM:616278 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:612653 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Harderoporphyria |
|
Splenomegaly, Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatome... |
OMIM:618892 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:182900 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Spherocytosis, Type 2 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:616649 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:235555 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:235700 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
ORPHA:234 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:616689 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:601847 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:185000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:211600 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent... |
ORPHA:79303 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de... |
ORPHA:1667 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:607765 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem... |
OMIM:613673 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Double outlet rig... |
OMIM:614886 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Ventricular septal defect, Right ventricular hypertr... |
OMIM:613404 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperbilirubinemi... |
OMIM:611881 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilir... |
OMIM:300908 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Hepatoportal Sclerosis |
|
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:613812 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
Hereditary Elliptocytosis |
|
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Dehydrated Hereditary Stomatocytosis |
|
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... |
ORPHA:3202 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... |
OMIM:208085 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:224120 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bil... |
OMIM:227810 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... |
OMIM:235200 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia |
ORPHA:822 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con... |
OMIM:614887 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatomegaly |
ORPHA:348 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Cystic Echinococcosis |
|
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:400 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly |
OMIM:608885 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hyper... |
ORPHA:567983 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
Wilson Disease |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Hypo... |
OMIM:277900 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating alpha-fetoprotein concentration... |
ORPHA:53035 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Hyperbilirubinemia |
OMIM:606812 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:464321 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Elevated ci... |
OMIM:614866 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613471 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
ORPHA:465508 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Lathosterolosis |
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Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
ORPHA:30391 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
Caroli Syndrome |
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Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia |
ORPHA:480520 |
Cantu Syndrome |
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Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Fructose Intolerance, Hereditary |
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Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Ogden Syndrome |
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Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:168577 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
X-Linked Intellectual Disability, Nascimento Type |
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Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... |
ORPHA:163956 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Atrial septal defect, Left ventricular hypertroph... |
OMIM:613610 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Cardiomegaly |
ORPHA:3137 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Hyperbilirubinemia |
OMIM:557000 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Hardikar Syndrome |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Partial anomalous pulmonary venous return,... |
OMIM:301068 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin... |
OMIM:619534 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Neurooculorenal Syndrome |
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Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve prolapse, Tetralogy of Fallot with pulm... |
OMIM:620305 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Senior-Boichis Syndrome |
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Hepatosplenomegaly, Increased total bilirubin |
ORPHA:84081 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Yellow Fever |
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Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... |
ORPHA:99829 |
Degcags Syndrome |
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Hepatomegaly, Ventricular septal defect, Hepatosplenomegaly, Hyperbilirubinemia, Pulmonic stenosi... |
OMIM:619488 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia |
OMIM:619475 |
Congenital Erythropoietic Porphyria |
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Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:79277 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Muscular ventricular septal defect, Hyperbilirubinemia, Atrial septal ... |
OMIM:210710 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Atrial septal defect, Patent foramen ovale, Unconjugated hyperbilirubinemia, Right ventricular hy... |
OMIM:620186 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Sandhoff Disease |
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Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Neonatal hyperbilirubinemia |
OMIM:300896 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Lethal Congenital Contracture Syndrome 10 |
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Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Paroxysmal Nocturnal Hemoglobinuria |
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Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Sickle Cell Disease |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Fucosidosis |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... |
OMIM:243800 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, H... |
ORPHA:116 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Williams Syndrome |
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Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... |
ORPHA:904 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hypophosph... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |