| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Rotor Syndrome |
|
Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Bilirubinuria |
ORPHA:3111 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Hepatomeg... |
OMIM:620010 |
| Malaria |
|
Hyperbilirubinemia, Acute kidney injury, Gait imbalance, Elevated circulating C-reactive protein ... |
ORPHA:673 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... |
OMIM:619902 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Micropenis, Neonatal hyperbilirubinemia, Ataxia |
ORPHA:3363 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Lacticaciduria, Alaninuria, Hyperg... |
OMIM:616299 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... |
OMIM:618892 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... |
OMIM:616278 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir... |
OMIM:608836 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency, Ataxia |
ORPHA:713 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... |
ORPHA:247598 |
| Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Hepatomegaly, Unconjugat... |
OMIM:613280 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:619232 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia |
OMIM:266120 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia, Gait disturbance |
OMIM:301094 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
ORPHA:766 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, He... |
OMIM:613404 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal urinary color |
ORPHA:234 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Hepatomegaly,... |
ORPHA:79303 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... |
ORPHA:158057 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Abnormality of the lower urinary tract |
ORPHA:101009 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly, Abnormal urinary color |
ORPHA:90037 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... |
OMIM:227810 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency |
OMIM:609727 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Inability to walk, Splenomegaly, ... |
OMIM:617303 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic... |
ORPHA:251004 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... |
OMIM:232200 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Elevated hepatic ... |
OMIM:616860 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... |
OMIM:614300 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Lethargy, 4-Hydroxyphenylpyruvic aciduri... |
OMIM:617156 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... |
OMIM:613070 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevated circulating cr... |
OMIM:232800 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Renal insufficie... |
ORPHA:1667 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... |
ORPHA:84081 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... |
OMIM:276700 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... |
OMIM:232220 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration |
OMIM:619685 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... |
OMIM:208085 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... |
ORPHA:91547 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235700 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Abnormal urinary color |
ORPHA:90036 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... |
ORPHA:542323 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Renal tubular dysfu... |
OMIM:614886 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Tip-toe gait, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hy... |
ORPHA:3008 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia |
OMIM:617970 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, Mi... |
OMIM:613673 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... |
OMIM:229600 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... |
ORPHA:449395 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:185000 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... |
OMIM:619662 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... |
OMIM:603553 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplicated collecting syst... |
OMIM:617093 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level |
OMIM:266200 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Broad-based gait, Hypotriglyceridemia, Decreased HDL cholesterol concentration, ... |
ORPHA:14 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly... |
OMIM:208540 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Inability to walk, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urina... |
ORPHA:505248 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Inability to walk, Splenomegaly, Ataxia, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Cystic Echinococcosis |
|
Hepatomegaly, Renal cyst, Hyperbilirubinemia, Membranous nephropathy |
ORPHA:400 |
| H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney |
ORPHA:168569 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Ataxia |
ORPHA:822 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,... |
ORPHA:79259 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Unconjugated hyperbilirubinemia, Splenomegaly, Decreased glucose-6-phosphate dehy... |
OMIM:300908 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:64743 |
| Lathosterolosis |
|
Horseshoe kidney, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia |
OMIM:607330 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Conjugated hyperbil... |
OMIM:614887 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:294 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Eleva... |
OMIM:251880 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Hepatome... |
ORPHA:348 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613812 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... |
OMIM:614866 |
| Glycogen Storage Disease Xii |
|
Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase... |
OMIM:611881 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Tip-toe gait |
ORPHA:293939 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Tip-toe gait, Splenomegaly, Cardiomegaly, Mucopolysaccharidu... |
OMIM:252500 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:224120 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration |
ORPHA:90673 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... |
ORPHA:3202 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Hyperbilirubinemia, Lethargy, Renal Fanconi syndrome, Hypercalciuria, ... |
OMIM:557000 |
| Wilson Disease |
|
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... |
OMIM:277900 |
| Autoimmune Hepatitis |
|
Splenomegaly, Glomerulonephritis, Increased total bilirubin |
ORPHA:2137 |
| Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Hyperbilirubinemia, Bilateral fetal pyelectasis... |
OMIM:606812 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:288 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia, Conjuga... |
ORPHA:480520 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... |
ORPHA:79328 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper... |
OMIM:208500 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... |
ORPHA:116 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hepatomegaly |
OMIM:259720 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:39812 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... |
ORPHA:90038 |
| Caroli Disease |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... |
ORPHA:508 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia, Hypercho... |
ORPHA:90674 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Hepatomegaly, Conjug... |
ORPHA:567983 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia, Dark urine |
ORPHA:521219 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarge... |
OMIM:300855 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias |
ORPHA:163979 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal renal cortex morphology, Hyperbilirubinemia, Abnormality of the kidney |
ORPHA:464321 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Ataxia |
ORPHA:168577 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Hepatosplenomegaly, P... |
OMIM:301068 |
| Meacham Syndrome |
|
Horseshoe kidney, Enlarged kidney |
OMIM:608978 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Splenomegaly, Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Hyperbilirubinemia, Increased circulating thyroglobulin concentration |
OMIM:218700 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections |
OMIM:615873 |
| Degcags Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... |
OMIM:619488 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:306955 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia, Renal insufficiency, Splenomegaly, Renal cyst, Left ventricular hypertrophy, ... |
OMIM:613610 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Increased circulating ... |
OMIM:619991 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Falls, Tip-toe gait, Hyperbilirubinemia, Hematuria, Ataxia, Micropenis, Hypospa... |
OMIM:619475 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, He... |
ORPHA:186 |
| Reynolds Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Calcinosis |
OMIM:613471 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Micropenis, Neonatal hyperbilirubinemia, Vesicoureteral reflux, Hypospadias |
ORPHA:163956 |
| Yellow Fever |
|
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... |
ORPHA:99829 |
| Congenital Erythropoietic Porphyria |
|
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin ... |
ORPHA:79277 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe... |
OMIM:619534 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Hyperbilirubinemia, Renal cyst, Micropenis, Polycystic kidney dysplasia |
OMIM:210710 |
| Cardiac-Urogenital Syndrome |
|
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney |
OMIM:618280 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega... |
OMIM:312870 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protein concentra... |
OMIM:620376 |
| Proteus Syndrome |
|
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney |
ORPHA:744 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Recurrent urinary tract infections |
OMIM:613658 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Vesicovaginal fistula, Ureteropelvic junction obstruction |
OMIM:300896 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia, Right ventricular hypertrophy |
OMIM:620186 |
| Johanson-Blizzard Syndrome |
|
Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Hydronephrosis, Micropenis,... |
OMIM:243800 |
