Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran... |
OMIM:602114 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Gait disturbance, Imp... |
OMIM:618400 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
Lambert Syndrome |
|
Cholestasis, Intrauterine growth retardation, Intrahepatic biliary atresia, Aplasia/Hypoplasia of... |
ORPHA:1296 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Cadds |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cholestasis, Intraut... |
ORPHA:369942 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Hyperlipid... |
OMIM:232700 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Cerebellar vermis hypoplasia, Dilate... |
OMIM:212065 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Intention tremor |
OMIM:610539 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... |
ORPHA:369840 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... |
OMIM:603358 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... |
ORPHA:26792 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,... |
ORPHA:251282 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Broad-based gait, Hepatic steatosis, Cerebellar hypoplasia, Pancreatitis, Elevat... |
OMIM:618805 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Hypocholesterolemia,... |
OMIM:608776 |
Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Postnatal growth ret... |
ORPHA:79333 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Abnormal cortical gyration, Proximal tubulopathy, Cerebellar atrophy, ... |
OMIM:614576 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Secondary ... |
OMIM:616672 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Neonatal death, Cerebellar hypoplasia, Dysplastic corpus callosum, Hepatomeg... |
OMIM:618810 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... |
ORPHA:382 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Global brain atrophy, Cholestasis, Intrauterine growth retardation, Fulminant hepatic failure, Ba... |
OMIM:609060 |
Argininemia |
|
Portal fibrosis, Cerebellar atrophy, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Postnat... |
OMIM:207800 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar atrophy, Decreased liver function, Cerebellar vermis atrophy, Diffic... |
ORPHA:512260 |
Cimdag Syndrome |
|
Cerebellar vermis hypoplasia, Cholelithiasis, Cerebral atrophy, Polymicrogyria, Chorea, Pontocere... |
OMIM:619273 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Di... |
OMIM:615356 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... |
OMIM:619868 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ce... |
ORPHA:445038 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... |
OMIM:615703 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Incre... |
OMIM:278000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal senso... |
OMIM:607250 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... |
OMIM:617093 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... |
OMIM:231100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Dicarboxylic aciduria, Cerebral calcification, Abnormal basal ganglia morphology, Hepatic steatos... |
ORPHA:228308 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatomegaly, Ataxia, Stea... |
OMIM:266510 |
Metachromatic Leukodystrophy |
|
Chorea, Reduced leukocyte arylsulfatase A activity, Cholecystitis, Gallbladder dysfunction, Gait ... |
OMIM:250100 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... |
OMIM:605814 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating aspartate aminotransferase concentration, Intrauterine growth retardation, D... |
OMIM:619048 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cerebellar vermis hypoplasia, Hepatic fibrosis, Nephronophthisis, Hepatic... |
OMIM:615630 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hyperkalemia, Increased total bilirubin... |
OMIM:618528 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D... |
OMIM:604213 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Re... |
OMIM:619386 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... |
OMIM:608709 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Ce... |
OMIM:610333 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Abnormal posturing, Chorea, Gait ataxia, Dysmetria, Gait disturbance, Je... |
ORPHA:157941 |
Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... |
ORPHA:71 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hyper... |
OMIM:615558 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... |
ORPHA:228305 |
Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... |
OMIM:615862 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature |
ORPHA:172 |
Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... |
OMIM:105200 |
Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ce... |
ORPHA:79322 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cerebral atrophy, Gait ataxia, Hypertriglyceridemia, Hepatic steatosis, Limb dystonia, Tremor, Ca... |
ORPHA:363400 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... |
ORPHA:570422 |
Lipoyltransferase 1 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Decreased liver func... |
OMIM:616299 |
Fragile X Syndrome |
|
Mandibular prognathia, Abnormal head movements, Recurrent hand flapping, Joint hypermobility, Mac... |
OMIM:300624 |
Myopathy With Extrapyramidal Signs |
|
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff... |
OMIM:615673 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... |
ORPHA:369 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys... |
ORPHA:101070 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Cerebral atrophy, Hepatic steatosis, Hypoplasia of the corpus callosum, Neonatal death, Hyperprol... |
OMIM:615918 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Decreased liver function, Elevated circulating phytanic acid concentration, V... |
OMIM:614867 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Generalized dystonia, Inability to walk, Focal T2 hyperintense basal ga... |
ORPHA:70472 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Cerebellar atrophy, Decreased liver function, Elevated circulating ... |
OMIM:614871 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Impaired vibratory sensation, Hypotriglyceridemia, Hypocholesterolemia, Decrease... |
OMIM:246700 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hepatic fibrosis, Elevated circulating hepatic transaminase concent... |
OMIM:619111 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Microcephaly, Decreased LDL cholesterol concentration, Delayed puberty, Decr... |
OMIM:616834 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dystonia, Reduced circulating acyl-CoA o... |
OMIM:264470 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Periventricular cysts, ... |
OMIM:619013 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Cerebellar atrophy, Secondary microcephaly, Exocrine pancreatic insufficiency, ... |
OMIM:616263 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Increased LDL ... |
ORPHA:247598 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Renal steatosis, Hepatic steatosis |
OMIM:261650 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Inability to... |
OMIM:613155 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Ataxia |
ORPHA:71518 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Hepatic steato... |
OMIM:616271 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Abnormal head movements |
OMIM:616939 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat... |
ORPHA:53693 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Elevated circulating aspartate aminotransferase concentration, Postnat... |
OMIM:610198 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:613404 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:618329 |
Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:620357 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Broad-based gait, Painless fractures due to injury, Cho... |
OMIM:256810 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct prol... |
OMIM:208540 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypoplasia of the corpus callosum, Microcephaly, Abnormal renal morphology, ... |
OMIM:610883 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
Abetalipoproteinemia |
|
Broad-based gait, Hyperbilirubinemia, Positive Romberg sign, Hepatic steatosis, Cirrhosis, Ataxia... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... |
OMIM:620454 |
Hyperbiliverdinemia |
|
Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd... |
OMIM:614156 |
Squalene Synthase Deficiency |
|
Elevated urine mesaconic acid level, Polymicrogyria, Hypocholesterolemia, Intrauterine growth ret... |
OMIM:618156 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Seve... |
ORPHA:440713 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... |
OMIM:605911 |
Dystonia 31 |
|
Difficulty walking, Dysphagia, Abnormal posturing |
OMIM:619565 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:615382 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Microcephaly, Bilateral basal ganglia lesions, Hepatic steatosis |
OMIM:615119 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... |
OMIM:251880 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased circulating carnitine concentration, Cerebellar atrophy, Organic aciduria, Abnormal cir... |
ORPHA:431361 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a... |
OMIM:614866 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Intrahepatic cholestasis, Cerebellar atrophy, Secondary microcephaly, Elevated circulating aspart... |
OMIM:619685 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... |
OMIM:219080 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... |
ORPHA:1414 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:208085 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Cerebral atrophy, Hepatic steatosis, ... |
OMIM:261680 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Hypocholesterolemia, Postnatal growth retardation, Dysmetria, Abeta... |
ORPHA:96180 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated... |
ORPHA:52430 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Increased circulating lactate dehydrogenase concentration, Cerebral atrophy, ... |
OMIM:619405 |
Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... |
ORPHA:85445 |
D-Bifunctional Protein Deficiency |
|
Cerebral hypoplasia, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy,... |
OMIM:261515 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Nephronophthisis, Elevated circulating hepatic transaminase concent... |
OMIM:614845 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Cerebellar vermis hypoplasia, Nephronophthisis, Occipital encephalocel... |
OMIM:216360 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Dysphagia, Somatic sensory dysfunction, Jerky head movements |
ORPHA:240103 |
Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... |
OMIM:617872 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:614582 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Type II diabetes mellitus, Progressive gait ataxia, Truncal... |
ORPHA:247815 |
Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Basal ganglia calcification, Cerebral calcification, Hepa... |
OMIM:619487 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:280356 |
Arima Syndrome |
|
Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis, Ataxia, Hepatomegaly, Renal... |
OMIM:243910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Ataxia, Periportal fibrosis, Elevated circulating hepatic transaminase concentrati... |
OMIM:124000 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... |
OMIM:201450 |
Cog4-Cdg |
|
Frontotemporal cerebral atrophy, Elevated circulating hepatic transaminase concentration, Hepatos... |
ORPHA:263501 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... |
ORPHA:139507 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... |
ORPHA:209919 |
Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Tremor, Nephrotic ran... |
ORPHA:300536 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Renal insufficiency, Hepatic steatosis, Hypoplasia of the corpus callosum, Hydr... |
OMIM:615996 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
Primary Dystonia, Dyt13 Type |
|
Motor stereotypy, Jerky head movements |
ORPHA:98807 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... |
OMIM:613070 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cerebral cortical atrophy, Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal... |
OMIM:614922 |
Huntington Disease-Like 3 |
|
Broad-based gait, Abnormal head movements, Chorea, Progressive gait ataxia, Flexion contracture |
ORPHA:157946 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Aplasia/Hypoplasia of the cor... |
ORPHA:1454 |
Immunodeficiency 114, Folate-Responsive |
|
Cerebellar atrophy, Cerebral atrophy, Increased circulating ferritin concentration, Postnatal gro... |
OMIM:620603 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Agenesis of corpus callosum, Lipid accumulation in hepatocytes, Elevated circulating alanine amin... |
OMIM:608836 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Fetal pyelectasis, Per... |
OMIM:616531 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elevated c... |
ORPHA:370022 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe... |
OMIM:613153 |
19P13.12 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Intrauterine growth retardation, Hyperlipidemia, Hep... |
ORPHA:254346 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Increased hepatic... |
OMIM:614946 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Xanthelasma, Increased LDL cholesterol concentration, Positive Romberg sign, ... |
OMIM:277460 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J... |
ORPHA:60 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia |
ORPHA:79136 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, 3-Methylglutaconic aciduria, Increased hepatic glyc... |
OMIM:619259 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate... |
OMIM:606069 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... |
OMIM:201475 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... |
ORPHA:71212 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Elevated circulating aspart... |
OMIM:212140 |
Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, In... |
ORPHA:79324 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... |
OMIM:615830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dy... |
OMIM:615181 |
Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Hypoplasia of the corpus callosum, Cirrhosis, Duplicated collecting system, He... |
OMIM:270400 |
Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Elevated c... |
ORPHA:2088 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... |
OMIM:267010 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... |
OMIM:613027 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Grade II... |
OMIM:619377 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... |
OMIM:608104 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki... |
ORPHA:98907 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Difficulty walking, Acute hep... |
ORPHA:905 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... |
OMIM:610717 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... |
OMIM:610205 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Cerebellar v... |
ORPHA:64753 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Proteinuria, Membranoproliferati... |
OMIM:619858 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Cholestasis, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:614924 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Cholestasis, Delayed puberty, Growth delay |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Cholestasis, Delayed puberty, Growth delay |
ORPHA:71526 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu... |
OMIM:231530 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia, Increased susceptibility to fractures |
OMIM:304700 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... |
ORPHA:436271 |
Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Polymicrogyria... |
OMIM:251290 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:616629 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrho... |
OMIM:277900 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... |
OMIM:614921 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar at... |
OMIM:203700 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Tip-toe gait, Inability to walk, Increased susceptibility to fractures, Atten... |
ORPHA:216866 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... |
OMIM:615381 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Hyp... |
ORPHA:88618 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... |
OMIM:619902 |
Rett Syndrome |
|
Difficulty walking, Inability to walk, Hyperammonemia, Cholecystitis, Progressive microcephaly, G... |
ORPHA:778 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Chole... |
OMIM:615486 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... |
OMIM:613470 |
Glycogen Storage Disease Ixb |
|
Growth delay, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Short stature, Hep... |
OMIM:261750 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Triploidy |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the gallbladder, Intrauterine growth re... |
ORPHA:3376 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... |
ORPHA:400 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Jaundice |
OMIM:201400 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... |
OMIM:210500 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hepatic steatosis, Macrocephaly |
ORPHA:210548 |
Aicardi-Goutieres Syndrome 1 |
|
Leukoencephalopathy, Elevated circulating hepatic transaminase concentration, Cerebral atrophy, I... |
OMIM:225750 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Cerebe... |
ORPHA:404454 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... |
OMIM:212138 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... |
OMIM:604367 |
Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... |
ORPHA:2137 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Abnormal renal collecting system morphology, Elevated circulating hepatic tr... |
ORPHA:17 |
Crome Syndrome |
|
Short stature, Cerebellar dysplasia, Microcephaly, Renal tubular epithelial necrosis |
OMIM:218900 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:609015 |
Seckel Syndrome 10 |
|
Severe short stature, Glycosuria, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:617253 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Tremor, Microcephaly, Gait disturbance, Micropenis, Short stature |
ORPHA:457240 |
Mevalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Fluctuating splenome... |
OMIM:610377 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hepatitis, Cerebral atrophy, Increased circulating ferritin concentration, In... |
OMIM:615846 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... |
ORPHA:403 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... |
ORPHA:562639 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:98908 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... |
OMIM:619232 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Polymicrogyria, Hypoplasia of ... |
OMIM:617751 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... |
OMIM:615415 |
Cog8-Cdg |
|
Progressive microcephaly, Cerebellar atrophy, Elevated circulating hepatic transaminase concentra... |
ORPHA:95428 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Leukoencephalopathy, Elevated circulating hepatic transaminase concentration, Paresthesia, Cirrho... |
ORPHA:298 |
Cog5-Cdg |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Hepatosplenomegaly, ... |
ORPHA:263487 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:615595 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Growth delay, Cerebr... |
OMIM:615471 |
Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... |
ORPHA:731 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... |
OMIM:301068 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Jerky head movements, Ataxia |
OMIM:245348 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... |
ORPHA:93111 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
Congenital Generalized Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased... |
ORPHA:528 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Elevated circulating propionylcarnitine concentration, Micrognathia, Cryptorc... |
OMIM:614857 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Reduced 3-met... |
OMIM:210200 |
Pearson Syndrome |
|
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Ataxia, Hepatomegaly, Hypoplas... |
ORPHA:699 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Intr... |
ORPHA:2075 |
3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaric aciduria, Cerebellar dysplasia |
OMIM:250951 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... |
OMIM:614817 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
Epilepsy With Eyelid Myoclonia |
|
Abnormal head movements |
ORPHA:139431 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, Abnormal basal gangli... |
ORPHA:309854 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Elevated circulating hepatic transaminase concentration, Paresthesia, Hepatic s... |
ORPHA:2959 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Limitation of joint mobility, Humeroradial synost... |
ORPHA:95699 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Intrauterine growth retardation, Hepatic steatosis, Microcephaly, Short stature... |
OMIM:619321 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Rena... |
OMIM:220110 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Rickets, Death in childhood, Death in adolescence, Ataxia, Hepatomegaly... |
OMIM:560000 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
Ogden Syndrome |
|
Shuffling gait, Microretrognathia, Abnormal head movements, Cryptorchidism, Lethargy |
ORPHA:276432 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Cholecys... |
OMIM:266200 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... |
OMIM:611881 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebra... |
OMIM:614886 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... |
ORPHA:412 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... |
OMIM:211600 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Somatostatinoma |
|
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... |
ORPHA:97283 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... |
ORPHA:1667 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Ovarian cyst, Hypophospha... |
ORPHA:249 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Ath... |
ORPHA:369929 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Splenomegaly, Glomerulopathy, Pancreatitis, Hypertriglyceridemia, Hepatomegaly |
ORPHA:2348 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Eleva... |
ORPHA:69665 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Inability to walk, Cerebral calci... |
OMIM:617303 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Hypertriglyceridemia, ... |
ORPHA:79259 |
Alagille Syndrome |
|
Nephrotic syndrome, Cholestasis, Abnormality of the ureter, Intrauterine growth retardation, Redu... |
ORPHA:52 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hyperuricemia, Splenomegaly, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He... |
ORPHA:79083 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... |
OMIM:619481 |
Garg-Mishra Progeroid Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Secondary microcephaly, Postnatal grow... |
OMIM:620601 |
Donohue Syndrome |
|
Hepatic fibrosis, Long penis, Cholestasis, Postnatal growth retardation, Intrauterine growth reta... |
OMIM:246200 |
Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri... |
OMIM:615960 |
Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation, Hyperbilir... |
OMIM:615710 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cerebral cortical atrophy, Secondary microcephaly, Elevated circulating alkaline phosphatase conc... |
OMIM:300868 |
Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat... |
OMIM:118450 |
Adrenomyodystrophy |
|
Short stature, Abnormality of the urinary system, Hepatic steatosis, Megacystis |
ORPHA:977 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... |
ORPHA:348 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Cystinosis |
|
Type I diabetes mellitus, Rickets, Polydipsia, Portal hypertension, Hypokalemia, Hypophosphatemia... |
ORPHA:213 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:79085 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Reduced cystathionine beta-synthase activi... |
OMIM:236200 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:275761 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Elevated gamma-glutamyltransferase level, Postnatal growth retardation, Hyperbiliru... |
OMIM:227810 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Growth delay, Cholesta... |
OMIM:615895 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Chorea, Gait ataxia, Gait disturbance, Dysphagia, Bradykinesia, Titubation |
ORPHA:225147 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Punctate periventricular T2 hyperintense foci, Tip-toe gait, Gait ataxia, Cholecystitis, Progress... |
ORPHA:309256 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:435651 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Elevated circulating hepatic transamin... |
OMIM:229600 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Hepa... |
OMIM:222470 |
Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... |
ORPHA:131 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukoencephalopathy, 3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concent... |
ORPHA:20 |
Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... |
ORPHA:404 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensit... |
ORPHA:251274 |
Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Elevated circulating hepatic transaminase conce... |
ORPHA:99845 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Cholestasis, Hypocalcemia, Chronic hepatic failure, Diffuse hepatic steatosis |
ORPHA:746 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Familial Atrial Myxoma |
|
Cholestasis, Jaundice |
ORPHA:615 |
Mednik Syndrome |
|
Hepatic fibrosis, Cholestasis, Neonatal death, Cirrhosis, Increased circulating very long-chain f... |
OMIM:609313 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation,... |
OMIM:610199 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Hepatosplenomegaly, Hypokalemia, Lethargy, Anorexia |
OMIM:611590 |
Metachromatic Leukodystrophy, Adult Form |
|
Punctate periventricular T2 hyperintense foci, Difficulty walking, Chorea, Cholecystitis, Abnorma... |
ORPHA:309271 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Low plasma citrulline, Steatorrhea, Abnormal blood ion concentration, Growth delay |
ORPHA:95427 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... |
OMIM:611126 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Portal hypertension |
ORPHA:83620 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... |
OMIM:600785 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Punctate periventricular T2 hyperintense foci, Cholecystitis, Abnormal glycosphingolipid metaboli... |
ORPHA:309263 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Cerebral atrophy, Recur... |
OMIM:613658 |
Medulloblastoma |
|
Elevated circulating hepatic transaminase concentration, Cerebellar ataxia associated with quadru... |
ORPHA:616 |
Monosomy 13Q34 |
|
Growth delay, Hepatic steatosis, Fetal pyelectasis, Agenesis of corpus callosum, Microcephaly, Hy... |
ORPHA:96168 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Rickets, Elevated circulating parathyroid hormone... |
OMIM:277440 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... |
OMIM:235700 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... |
ORPHA:435660 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Delayed... |
OMIM:264700 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Cirrhosis, Hypertriglyc... |
ORPHA:79086 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Occipital encephalocele, Renal agenesis, Abnormality of the urethra... |
ORPHA:887 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... |
ORPHA:93160 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Cerebral calcification, Intra... |
ORPHA:294 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Postnatal growth retar... |
ORPHA:79240 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypophosphatemic rickets, Pa... |
ORPHA:263455 |
Axial Osteomalacia |
|
Increased bone mineral density, Elevated circulating creatine kinase concentration, Polycystic li... |
OMIM:109130 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... |
ORPHA:157215 |
Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
Hypophosphatasia, Adult |
|
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures,... |
OMIM:146300 |
Immunodeficiency 40 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616433 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Rhizomelia, Cholestasis, Hepatosplenomeg... |
OMIM:266920 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Delayed... |
ORPHA:289157 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Cholestasis, Dark urine... |
OMIM:619534 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing, Dysphagia, Multiple joint contractures |
OMIM:128100 |
Alstrom Syndrome |
|
Nephritis, Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol con... |
OMIM:203800 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Hyperammonemia |
ORPHA:292 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa... |
OMIM:619573 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hepatosplenomegaly, Hypoph... |
OMIM:307800 |
Reynolds Syndrome |
|
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil... |
OMIM:613471 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Cerebral atrophy, Cholecystitis, Splenomegaly, Tremor, Dystonia, Prolonged neonat... |
OMIM:615512 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Osteopenia, Micrognathia, Joint hypermobility, Jerky head movements, Hypertri... |
ORPHA:369837 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Intrauterine growth retardation, Postnatal growth retardation, Microcephaly,... |
OMIM:223370 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Elevate... |
OMIM:613327 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Cerebellar hypoplasia, Ataxia, Short stature, Elevated hemoglobin A... |
OMIM:616113 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypophosphatemic rickets, Sparse bo... |
OMIM:241530 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Ataxia, Intracerebral periventricular calcifications, Postnatal growth retardation, Hepatosplenom... |
ORPHA:168577 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Microcephaly, Hypocholesterolemia, Hypoplasia of the corpus callosum |
OMIM:244450 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-i... |
ORPHA:231580 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypocalcemia, Sparse bone trabecula... |
OMIM:600081 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... |
OMIM:232200 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Elevated circulatin... |
ORPHA:449395 |
Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613610 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Impaired temperature sensation, Hypertriglyceridemia |
ORPHA:31150 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, Joint stiffn... |
ORPHA:2176 |
Shigellosis |
|
Acute kidney injury, Hepatic failure, Urethritis, Cholestasis, Hyponatremia, Peritonitis, Splenic... |
ORPHA:810 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... |
ORPHA:2869 |
Sandifer Syndrome |
|
Abnormal head movements, Abnormal posturing |
ORPHA:71272 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... |
ORPHA:90791 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... |
OMIM:616026 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Macrocephaly at birth, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepat... |
OMIM:619991 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Glomerul... |
ORPHA:470 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Redu... |
OMIM:232220 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased serum testosterone lev... |
ORPHA:96181 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Hypoc... |
OMIM:212750 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Cholecystitis, Elevated alkalin... |
ORPHA:100086 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... |
OMIM:620367 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Hypon... |
ORPHA:90790 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Hematuria, Torticollis, Ataxia, Jaundice... |
OMIM:619475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ketonuria, Increased hepatocellular lipid droplets, Hyperammonemia,... |
OMIM:220111 |
Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Rhizomelia, Growth de... |
ORPHA:818 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr... |
OMIM:151660 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia |
ORPHA:89937 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the urinary system, Abdominal situs inversus, Abnormality of the gallbladder, Intr... |
ORPHA:280 |
Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Elevated circulating hepatic transaminase concentration, Renal insufficiency |
ORPHA:293173 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Encephalocele, Agenesis... |
OMIM:613150 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia |
OMIM:146350 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating asp... |
OMIM:620376 |
Bloom Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hepatic steatosis, Microcephaly, E... |
OMIM:210900 |
Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... |
OMIM:137920 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... |
OMIM:608594 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra... |
ORPHA:186 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hypophosphatem... |
OMIM:613388 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... |
OMIM:619525 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatic steatosis, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decreased HDL cholesterol co... |
ORPHA:280365 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... |
OMIM:269700 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Rickets, Retrognathia, Osteomalacia, Joint stiffness, Micrognathia, Joint hypermobili... |
ORPHA:1901 |
Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Rickets, Osteomalacia |
OMIM:179830 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria |
ORPHA:349 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, El... |
OMIM:276700 |
Wiedemann-Rautenstrauch Syndrome |
|
Hepatic steatosis, Action tremor, Agenesis of corpus callosum, Ataxia, Hypospadias, Polymicrogyri... |
ORPHA:3455 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark... |
ORPHA:521219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Renal dysplasia, Polymicrogyria, Type II lissencephaly, Cerebellar malfo... |
OMIM:236670 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Ataxia, Hepatic fibrosis, Elevated circulating hepatic transaminase conce... |
ORPHA:110 |
Congenital Tufting Enteropathy |
|
Steatorrhea, Cholestatic liver disease |
ORPHA:92050 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Jerky head movements |
ORPHA:64280 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri... |
OMIM:612089 |
Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertrigly... |
ORPHA:90041 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Contractures of the large joints, Insulin-resistant ... |
ORPHA:2457 |
Q Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... |
ORPHA:781 |
Neu-Laxova Syndrome |
|
Osteopenia, Rickets, Retrognathia, Osteomalacia, Hypogonadism, Intrauterine growth retardation, M... |
ORPHA:2671 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Listeriosis |
|
Acute kidney injury, Somatic sensory dysfunction, Pyelonephritis, Cholecystitis, Tremor, Peritoni... |
ORPHA:533 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Microcephaly, Intrauterine growth retardation, Hepatic steatosis |
OMIM:619934 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Increased circulating cortisol level, Neoplasm of the p... |
ORPHA:97278 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Adr... |
OMIM:236680 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Post... |
OMIM:619127 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Cholestasis, Hepatomegaly |
OMIM:620233 |
Degcags Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... |
OMIM:619488 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300009 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatosplenomegaly, Hypoplasia of the corpus callosum, Microvesicular he... |
OMIM:618278 |
Vipoma |
|
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... |
ORPHA:97282 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Delayed eruption o... |
ORPHA:289176 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... |
ORPHA:99889 |
Vici Syndrome |
|
Abnormal posturing, Micrognathia, Agenesis of corpus callosum, Elevated circulating creatine kina... |
OMIM:242840 |
Aromatase Deficiency |
|
Hyperlipidemia, Hepatic steatosis, Growth delay |
ORPHA:91 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Osteomalacia, Micrognathia, Cryptorchidism, Hypophosphatemia, Motor stereotypy, Se... |
ORPHA:534 |
1P36 Deletion Syndrome |
|
Cerebral cortical atrophy, Annular pancreas, Abnormality of the spleen, Abnormality of the liver,... |
ORPHA:1606 |
Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... |
ORPHA:96253 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia |
OMIM:134600 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Increased circulating cortisol level, Neoplasm of the p... |
ORPHA:97261 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... |
OMIM:202010 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... |
ORPHA:99226 |
Ogden Syndrome |
|
Growth delay, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Hy... |
OMIM:300855 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Abnormal dentin morphology, Generalized osteosclerosis, Hy... |
ORPHA:89936 |
Glucagonoma |
|
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... |
ORPHA:97280 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath... |
OMIM:600740 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Extrahe... |
ORPHA:100078 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Cholestasis, He... |
OMIM:619503 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Cholecystitis, Cholangitis, Liver abscess |
ORPHA:183675 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Macrocephaly, Hepatomegaly |
OMIM:301066 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Camptodactyly ... |
OMIM:309000 |
Digeorge Syndrome |
|
Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Hepatic steatosis, ... |
OMIM:188400 |
Occipital Horn Syndrome |
|
Hepatitis, Recurrent urinary tract infections, Cholestasis, Cerebral calcification, Bladder diver... |
ORPHA:198 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Adrenal gland agenesis |
OMIM:611812 |
Alström Syndrome |
|
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste... |
ORPHA:64 |
Cog1-Cdg |
|
Cerebellar vermis hypoplasia, Temporal cortical atrophy, Rhizomelia, Cerebellar dysplasia, Hepato... |
ORPHA:263508 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Increased urinary cortisol level, Jaundice, Hypercalcemia, ... |
ORPHA:913 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Polydipsia, Hypomagnes... |
OMIM:219800 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Insulinoma, Renal angiomy... |
ORPHA:276152 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Steatorrhea, Osteoporosis |
ORPHA:309031 |
Dent Disease |
|
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe... |
ORPHA:1652 |
Zellweger Syndrome |
|