Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Renal insufficiency, Hyp... |
ORPHA:411536 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia |
OMIM:609886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... |
ORPHA:79233 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Hereditary Xanthinuria |
|
Aldehyde oxidase deficiency, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased... |
ORPHA:3467 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the ovary, Increased circulating lactate dehydrogenase c... |
ORPHA:543 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Uni... |
OMIM:137920 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Cholelithiasis, Hyperuricemia, Jaundice |
OMIM:232800 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Hyperuricemia, Acute kid... |
ORPHA:411543 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... |
OMIM:602114 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid in urine, Hyper... |
OMIM:246450 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hirsutism, Oligomenorrhea, Polycystic ovaries, Hyperuric... |
OMIM:604367 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia, Hyperuricosuria, Uric acid... |
OMIM:300661 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Glomerulopathy, Renal agenesis, Renal Fanconi syndrome, Abnormalit... |
ORPHA:93111 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia |
ORPHA:214 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Low anterior hairline, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disea... |
ORPHA:261222 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney disease |
OMIM:617056 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... |
OMIM:203800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... |
OMIM:613845 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Pancreatiti... |
ORPHA:79083 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Episodic hyperhidrosis, Reduced aldolase level, Hypophosphatemia, Hyperuricemia, Re... |
ORPHA:469 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... |
OMIM:232200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hepatomegaly, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Prote... |
OMIM:616026 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... |
OMIM:232220 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... |
OMIM:229600 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Inc... |
ORPHA:348 |
Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hydroxyprolinuria, Hyperuricemia, Elevated circulating alkaline phosphatase co... |
OMIM:239000 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Menorrhagia, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Aldehyde oxidase deficiency, Xanthinuria, Increased urinary thiosulfate, Absent urinary urothione... |
OMIM:252150 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hirsutism, Hypothyroidism, Hyperuricemia |
ORPHA:77296 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Microscopic hematuria, Chronic ki... |
ORPHA:411634 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Elevated red cell adenosine deaminase level, Hyperuricemia |
OMIM:102730 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Menorrhagia, Nep... |
ORPHA:79259 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... |
OMIM:232240 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... |
OMIM:232700 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Nephrolithiasis, Hyperuricemia, Hyperuricosuria |
OMIM:300322 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... |
ORPHA:3337 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hepatitis, Hyperuricemia, Pituitary adenoma, Pre... |
ORPHA:199299 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Elevated transferrin ... |
OMIM:613313 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Decreased circulating aldosterone level, Increased cir... |
ORPHA:95409 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Hyperammonemia, Jaundice, Hyperuricemia, Acute p... |
ORPHA:20 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Spontaneous abortion, Increased urinary taurine, Sulfite oxidase deficiency, Molybd... |
OMIM:615501 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Preeclampsia |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Polycystic ovaries, Acute ... |
ORPHA:275555 |
Addison Disease |
|
Hyperkalemia, Hyponatremia, Hypoparathyroidism, Hypercalcemia, Decreased circulating aldosterone ... |
ORPHA:85138 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Hepatomegaly, Hyperuricemia, Ketonuria |
ORPHA:134 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... |
OMIM:603471 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia, Elevated hepatic transam... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficiency, Jaun... |
ORPHA:890 |
Xanthinuria, Type I |
|
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehy... |
OMIM:278300 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbili... |
OMIM:214900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... |
OMIM:147480 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... |
OMIM:617156 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Amenorrhea, Hypogonadotropic hypogonadism, Elevated transferrin saturation,... |
OMIM:604250 |
Hirsutism, Skeletal Dysplasia, And Mental Retardation |
|
Hirsutism, Hyperuricemia |
OMIM:142625 |
Galactosemia |
|
Hepatomegaly, Secondary amenorrhea, Hypergalactosemia, Oligomenorrhea, Cirrhosis, Decreased ferti... |
ORPHA:352 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated circulating sebacic acid conc... |
OMIM:615160 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine... |
OMIM:252160 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, E... |
OMIM:301045 |
Gaisböck Syndrome |
|
Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Ch... |
ORPHA:90041 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Decreased circulating T4 level, Elevated circulating thyroid-sti... |
ORPHA:94086 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis |
OMIM:300752 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618528 |
Cockayne Syndrome |
|
Fine hair, Hepatomegaly, Renal hypoplasia, Dry hair, Nephrotic syndrome, Abnormal renal physiolog... |
ORPHA:191 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... |
OMIM:214950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hyperammonemia |
OMIM:615453 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... |
ORPHA:247598 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myoglobinuria, Decreased plasma free carnitine, Reduced carnitine O-palmitoyltransf... |
ORPHA:228305 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Hirsutism, Hypertrichosis, Elevated hepatic iron concentration, Hepatocellu... |
ORPHA:101330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Hyperglutaminemia, Elevated circulating creatine kinase concentration, Dic... |
OMIM:619355 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Elevat... |
ORPHA:99845 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carc... |
ORPHA:370 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia... |
OMIM:619484 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Myoglobinuria, Abnormal urinary color, Elevated circulating creati... |
ORPHA:98895 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Hepati... |
OMIM:235555 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate |
ORPHA:760 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... |
OMIM:613812 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating inosine concentration, In... |
OMIM:613179 |
Myh9-Related Disease |
|
Menorrhagia, Nephritis, Nephropathy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency |
ORPHA:182050 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... |
OMIM:600649 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Glycosuria, Ketonuria |
ORPHA:2089 |
Familial Osteodysplasia, Anderson Type |
|
Thick eyebrow, Hyperuricemia |
ORPHA:2769 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Cirr... |
OMIM:607765 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatosplenomegaly, Elevated circulating alkaline ph... |
ORPHA:84081 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Ele... |
ORPHA:264580 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia, Abnormal erythrocyte enzyme level |
ORPHA:1187 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenor... |
ORPHA:79240 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hyperammonemia, Jaundice |
OMIM:616483 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Elevated he... |
OMIM:201450 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... |
OMIM:617394 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Central hypothyroidism, Chronic kidney disease, Hyperbilirubinemia, H... |
ORPHA:1667 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... |
OMIM:602347 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Adrenal insufficiency, Elevated hepatic i... |
ORPHA:300298 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hep... |
OMIM:618641 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatocellular carcinoma, Nephroc... |
OMIM:276700 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Hyperbilirubinemia, Dark urine, Cholesterol gallstones, ... |
ORPHA:521219 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... |
ORPHA:470 |
Eisenmenger Syndrome |
|
Hepatomegaly, Abnormal B-type natriuretic peptide level, Hyperuricemia, Abnormality of the liver,... |
ORPHA:97214 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Elevated hepatic tran... |
ORPHA:261265 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... |
ORPHA:562639 |