Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
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 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Memory impairment, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Malaria |
|
Cognitive impairment, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613673 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increase... |
OMIM:616278 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis |
OMIM:614300 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:619232 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:185000 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin |
OMIM:618528 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... |
ORPHA:766 |
Harderoporphyria |
|
Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Neonatal hyperbilirubin... |
OMIM:618892 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:601775 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:605479 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Increased circulating ferritin c... |
OMIM:616860 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegal... |
ORPHA:158057 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
ORPHA:234 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia |
OMIM:613404 |
Hepatoportal Sclerosis |
|
Cognitive impairment, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... |
OMIM:613280 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirub... |
ORPHA:79303 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... |
OMIM:614886 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Splenomegaly |
OMIM:266200 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:109270 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial s... |
OMIM:208085 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... |
OMIM:619662 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinemia, Hyperammonemia, At... |
ORPHA:1667 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
Hereditary Elliptocytosis |
|
Splenomegaly, Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... |
OMIM:608836 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased total bilirubin, Splenomegaly, Increased circulating ferri... |
ORPHA:3202 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonem... |
OMIM:619051 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... |
OMIM:603553 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly |
ORPHA:822 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in b... |
ORPHA:3008 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:71275 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating ... |
ORPHA:14 |
Cystic Echinococcosis |
|
Abnormal heart morphology, Hepatomegaly, Hyperbilirubinemia |
ORPHA:400 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Reynolds Syndrome |
|
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly |
OMIM:613471 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... |
ORPHA:567983 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:39812 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia |
OMIM:229600 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Hyperbilirubinemia |
ORPHA:464321 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Atrial septal defec... |
OMIM:613610 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Caroli Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
Caroli Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:53035 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:88673 |
Lathosterolosis |
|
Hepatosplenomegaly, Hyperbilirubinemia, Abnormal circulating cholesterol concentration |
OMIM:607330 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Neonatal hyperbilirubinemia, Double outlet right ventricle, Mitral ste... |
ORPHA:163956 |
Isolated Biliary Atresia |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Conjugated hyperbilirubinemia |
ORPHA:168577 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dextrocardia, Hepatomegaly, Primum atrial septal defect, Ventricular septal defect, Atrioventricu... |
OMIM:619534 |
Degcags Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hyperbilirubinemia, Pulmonic stenosis, Hepatosplenomegal... |
OMIM:619488 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... |
ORPHA:90038 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, At... |
OMIM:301068 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Ventricular septal defect, Hyperbilirubinemia, Cognitive impairment |
OMIM:619475 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Increased total bilirubin |
ORPHA:84081 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Conjugated hyperbilirubinemia |
OMIM:210550 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia |
OMIM:218700 |
Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Splenomegaly, Increased erythrocyte p... |
ORPHA:79277 |
Yellow Fever |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:99829 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Neonatal hyperbilirubinemia |
OMIM:300896 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decrea... |
ORPHA:447 |