Essential Fructosuria |
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Abnormal erythrocyte enzyme level, Abnormal enzyme/coenzyme activity, Impairment of fructose meta... |
ORPHA:2056 |
Fructose And Galactose Intolerance |
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Galactose intolerance, Hypoglycemia, Seizure, Fructose intolerance |
OMIM:229500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Micronodular cirrhosis, Low levels of vitamin E, Abnormality of amino acid metaboli... |
ORPHA:309854 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
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Abnormal glycosylation, Seizure |
OMIM:615596 |
Tyrosinemia Type 2 |
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Abnormality of amino acid metabolism, Seizure |
ORPHA:28378 |
Congenital Disorder Of Glycosylation, Type Iio |
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Cholestatic liver disease, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated... |
OMIM:616828 |
Classic Homocystinuria |
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Elevated hepatic transaminase, Abnormality of amino acid metabolism, Hepatomegaly, Seizure |
ORPHA:394 |
Fructosuria, Essential |
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Impairment of fructose metabolism |
OMIM:229800 |
Galactose Mutarotase Deficiency |
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Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Cholestasis, Impairmen... |
ORPHA:570422 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased liver function, Abnormal protein N-linked glycosylation, Elevated circulating alkaline ... |
OMIM:616829 |
Cystinuria |
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Abnormality of amino acid metabolism |
ORPHA:214 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Decreased liver function, Elevated hepatic transaminase, Seizure, Postnatal growth retardation, H... |
OMIM:617093 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Microvesicular hepatic steatosis, Jaundice, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Elevated hepatic transaminase, Abnormal glycosylation, Seizure |
OMIM:617395 |
Galactose Epimerase Deficiency |
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Growth delay, Hepatomegaly, Jaundice, Impairment of galactose metabolism |
ORPHA:79238 |
Glycogen Storage Disease Vi |
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Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic transaminase, Po... |
OMIM:232700 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Abnormality of amino acid metabolism, Short stature |
ORPHA:220295 |
Dk1-Cdg |
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Type I transferrin isoform profile, Abnormal enzyme/coenzyme activity, Short stature, Infantile s... |
ORPHA:91131 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... |
OMIM:600649 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... |
ORPHA:79302 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fa... |
ORPHA:567983 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration... |
ORPHA:2088 |
Aspartylglucosaminuria |
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Abnormality of amino acid metabolism, Hepatomegaly, Umbilical hernia, Seizure |
ORPHA:93 |
Stt3B-Cdg |
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Intrauterine growth retardation, Abnormal glycosylation, Seizure |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
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Intrauterine growth retardation, Abnormal glycosylation, Seizure |
OMIM:615597 |
Slc35A2-Cdg |
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Abnormal heart morphology, Short stature, Infantile spasms, Tetralogy of Fallot, Decreased sialyl... |
ORPHA:356961 |
Infantile Liver Failure Syndrome 2 |
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Acute hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Seizure, Jaundice, Cardiomyop... |
OMIM:616483 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Abno... |
ORPHA:79303 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tra... |
ORPHA:2089 |
Morgagni-Stewart-Morel Syndrome |
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Diabetes mellitus, Seizure, Abnormal metabolism |
ORPHA:77296 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Cholelithiasis, Giant cell hepatitis, Type II diabetes mellitus, Cholestatic liver disease, Abnor... |
ORPHA:79095 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Abnormality of vitamin D metabolism, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated h... |
ORPHA:541423 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased adenosylcobalamin, Methylmalonic acidemia, Seizure, Decreased methylmalonyl-CoA mutase ... |
OMIM:277410 |
Glycogen Storage Disease Ixc |
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Growth delay, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Congenital Disorder Of Glycosylation, Type It |
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Abnormal isoelectric focusing of serum transferrin, Hepatomegaly, Short stature, Increased hepati... |
OMIM:614921 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Hyperinsulinemic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic fai... |
ORPHA:71212 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis... |
OMIM:613812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
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Abnormal glycosylation |
OMIM:611588 |
Low Phospholipid-Associated Cholelithiasis |
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Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Sclerosing cholangitis, Elevated... |
ORPHA:69663 |
Gallbladder Disease 1 |
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Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Cholestasis, Cholecystit... |
OMIM:600803 |
Stt3A-Cdg |
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Abnormal glycosylation, Seizure |
ORPHA:370921 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Growth delay, Abnormality... |
ORPHA:71 |
Fanconi-Bickel Syndrome |
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Glycosuria, Elevated circulating alkaline phosphatase concentration, Impairment of galactose meta... |
OMIM:227810 |
Isolated Biliary Atresia |
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Decreased liver function, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, ... |
ORPHA:30391 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Short stature |
ORPHA:31 |
Developmental And Epileptic Encephalopathy 50 |
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Status epilepticus, Abnormal glycosylation, Seizure |
OMIM:616457 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatomegaly, Generalized myoclonic seizure, Hepatic failure, Abnormality of Krebs cycle metaboli... |
ORPHA:255210 |
Fructose Intolerance, Hereditary |
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Hepatomegaly, Cirrhosis, Glycosuria, Fructose intolerance, Hypoglycemia, Elevated hepatic transam... |
OMIM:229600 |
Secondary Short Bowel Syndrome |
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Growth delay, Abnormality of vitamin metabolism, Cholestasis |
ORPHA:95427 |
Primary Intestinal Lymphangiectasia |
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Growth delay, Abnormality of vitamin metabolism, Pericardial effusion, Low levels of vitamin D |
ORPHA:90362 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Dilated cardiomyopathy, Delayed puberty, Growth delay, Abnormality of vitamin metabolism, Low lev... |
ORPHA:79408 |
Wolf-Hirschhorn Syndrome |
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Abnormal cardiac septum morphology, Atrial septal defect, Abnormality of the gallbladder, Seizure... |
ORPHA:280 |