Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Gait disturbance, Impaired distal tactile sensation, Hepatic steat... |
OMIM:618400 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Prote... |
OMIM:620010 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cereb... |
ORPHA:1296 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:232700 |
Cadds |
|
Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Cholestasis, Abnormal cerebral wh... |
ORPHA:369942 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Hypocholesterolemia, Intention tremor |
OMIM:610539 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, H... |
OMIM:212065 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Microcephaly, Elevated circulating acylcarnitine... |
ORPHA:26792 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Hypo... |
OMIM:618805 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Decreased liver function, Difficulty walking, ... |
ORPHA:512260 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Cog7-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ki... |
ORPHA:79333 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Abnormal cortical gyration, Elev... |
OMIM:614576 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... |
ORPHA:251282 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... |
ORPHA:94124 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypocholesterolemia, Neonatal de... |
OMIM:618810 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... |
OMIM:607250 |
Cimdag Syndrome |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Microcephaly, Microvesicular hepati... |
OMIM:619273 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Abnormal circulati... |
ORPHA:79303 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Microcephaly, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Hyp... |
OMIM:616672 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Microcephaly, Cholestasis, Basal ganglia cysts, Hypoplas... |
OMIM:609060 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Elevated circu... |
OMIM:615356 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal basal ganglia mo... |
ORPHA:445038 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammo... |
OMIM:207800 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen... |
ORPHA:228308 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Splenomegaly, Hydrocephalus, Chronic k... |
OMIM:615630 |
Metachromatic Leukodystrophy |
|
Ataxia, Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Chorea, Abnormal cerebr... |
OMIM:250100 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Imp... |
ORPHA:71 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... |
OMIM:617093 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Cerebral calcification, Splenome... |
OMIM:610333 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Gait disturb... |
ORPHA:157941 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia, Tremor, Cerebral atrophy, Gait ataxi... |
ORPHA:363400 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membran... |
OMIM:615862 |
Dpm1-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating cre... |
ORPHA:79322 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri... |
ORPHA:369 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Elevated circulating phytanic acid... |
OMIM:266510 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno... |
ORPHA:101070 |
Galactose Mutarotase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated... |
OMIM:615673 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Tremor, Unsteady gait, Eleva... |
OMIM:614867 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... |
OMIM:612526 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolin... |
OMIM:616299 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Mandibular prognathia, Joint laxity, Hyper... |
OMIM:300624 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, El... |
OMIM:614871 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Generalized dystonia, Ataxia, Inability to... |
ORPHA:70472 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Decreased LDL cholesterol concentration, Steatorrhea, Growth delay,... |
OMIM:246700 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Short stature, Microcephaly, Decreased LDL cholesterol c... |
OMIM:616834 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Cerebral atrophy, Hypoplasia of the corpus callosum, Neonatal death, Hyperalanin... |
OMIM:615918 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Waddling gait, Microc... |
ORPHA:369840 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... |
OMIM:619111 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dystonia, D... |
OMIM:264470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Pancreatic fibrosis, Ataxia, Short stature, Postnatal growth re... |
OMIM:616263 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Microcephaly, Periventricular... |
OMIM:619013 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis, Renal steatosis |
OMIM:261650 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Ataxia |
ORPHA:71518 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Rhizomelia, Microcephaly, Tremor, Cerebral atrophy, Opisthotonus, Cho... |
OMIM:616271 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, I... |
OMIM:613155 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypospadias, Postnatal gro... |
OMIM:610198 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Senior-Boichis Syndrome |
|
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal h... |
ORPHA:84081 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, ... |
OMIM:618329 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... |
OMIM:256810 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Microcephaly, Con... |
OMIM:613404 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Dandy-Walker malformation, Hepatomegaly, Portal hyper... |
OMIM:208540 |
Potocki-Lupski Syndrome |
|
Short stature, Microcephaly, Abnormal renal morphology, Hypoplasia of the corpus callosum, Hypoch... |
OMIM:610883 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... |
ORPHA:14 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... |
OMIM:208920 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Steatorrhea, Cholestasis, Sev... |
ORPHA:440713 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Dysphagia |
OMIM:619565 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Hepatic steatosis, Proteinuria |
ORPHA:79087 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Dystonia, Microcephaly, Abnormal... |
ORPHA:431361 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Pachygyria, ... |
OMIM:614866 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bilateral basal ganglia lesions, Hepatic steatosis, Microcephaly |
OMIM:615119 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Elevated circulating creatine kinase... |
ORPHA:52430 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating crea... |
ORPHA:96180 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Microcephaly, Cholestasis, Hepatospl... |
ORPHA:541423 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:619405 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Nephronophthisis |
OMIM:614845 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Increase... |
OMIM:219080 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Basal ganglia calcification, Hypoalbuminemia, Hepatic fibrosis, Micropeni... |
OMIM:619487 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Conjugated hyperbilirubinemia,... |
OMIM:208085 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum... |
OMIM:261515 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasi... |
OMIM:216360 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Intrahepatic c... |
OMIM:619685 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Somatic sensory dysfunction, Jerky head movements, Dysphagia |
ORPHA:240103 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Microcephaly, Hepatospleno... |
ORPHA:263501 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Bilateral cryptorchidism, Micrognathia, Elbow flexi... |
OMIM:618156 |
Arima Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hepatic fibrosis, Nephronophthisis, He... |
OMIM:243910 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Increased L... |
OMIM:277460 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microve... |
OMIM:124000 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Hypoplasia of the corpus callosum, Hepatic steatosis, Hydr... |
OMIM:615996 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Short stature, Tremor, Nephrotic range proteinuria |
ORPHA:300536 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:64753 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microcephaly, Hepatic steatosis |
OMIM:615438 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal dysplasia, Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular a... |
OMIM:614922 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Glyco... |
OMIM:231680 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Tremor, Biparietal narrowing, Aplasia/Hypo... |
ORPHA:1454 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... |
ORPHA:30391 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Fetal pyelectasis, Perisylvian polymicrogyria, Cerebellar hypoplasi... |
OMIM:616531 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Chorea, Flexion contracture, Progressive gait ataxia |
ORPHA:157946 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elevated circulating creatine kinase conc... |
ORPHA:370022 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... |
ORPHA:247815 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Low plasma citrulline, Elevated circulating alanine aminotransferase con... |
OMIM:261680 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ... |
OMIM:608836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concent... |
OMIM:613153 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Copper accumulation in liver, Cerebra... |
OMIM:614946 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hyperlipidemia, Hypoplasi... |
ORPHA:254346 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia |
ORPHA:79136 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am... |
OMIM:277900 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Limb ataxia, Gait ataxia, 3-Methylglutaco... |
OMIM:619259 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... |
ORPHA:79324 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia,... |
OMIM:615181 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased circulating cortisol ... |
OMIM:615830 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Renal cyst, Chiari type I malf... |
OMIM:270400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Basal ganglia calcification, Splenomegaly, Hydroceph... |
ORPHA:398124 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... |
OMIM:615980 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... |
OMIM:267010 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Microcep... |
OMIM:201475 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Growth delay, Cholestasis, Delayed puberty |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Growth delay, Cholestasis, Delayed puberty |
ORPHA:71526 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... |
ORPHA:98907 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth delay, Cholesta... |
OMIM:619858 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral reflux, Cho... |
OMIM:619377 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... |
ORPHA:436271 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein ... |
OMIM:616267 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Hypoalbuminemia, Decrea... |
OMIM:608104 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral basal ganglia lesions, Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Acti... |
ORPHA:66634 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... |
OMIM:614921 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia, Increased susceptibility to fractures |
OMIM:304700 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cerebral calcification, Microce... |
OMIM:251290 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Decreased 3-hyd... |
OMIM:231530 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... |
OMIM:615381 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Hydrocephalus, Abnor... |
ORPHA:3376 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Intracerebral periventricular calcifications, Dyston... |
OMIM:225750 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, A... |
OMIM:203700 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Sensory ataxia, Decreased glucosephosphate is... |
OMIM:613470 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... |
ORPHA:88618 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Increased susceptibility to fractures, Tip-toe gait, Gait disturbance, Attenti... |
ORPHA:216866 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... |
OMIM:306000 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Jaundice |
OMIM:201400 |
Rett Syndrome |
|
Increased serum pyruvate, Dystonia, Inability to walk, Hyperammonemia, Gait disturbance, Cholecys... |
ORPHA:778 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:99901 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis, Penile freckling, Macrocephaly |
ORPHA:210548 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated hemoglobin A1c, Elevated... |
OMIM:617253 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Nodular regenerative hyperplasia... |
ORPHA:404454 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Elevated hepat... |
ORPHA:17 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Elevated hepatic transaminase, Agenesis of cerebellar vermis, Ataxia, Elevate... |
OMIM:610377 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Microcephaly, Tremor, Gait disturbance, Micropenis, Cerebellar dysplasia |
ORPHA:457240 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Progressive microcephaly, Elevated hepatic transaminase |
ORPHA:95428 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Hypoplasia of ... |
OMIM:617751 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Cog5-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Elevat... |
ORPHA:263487 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Microcephaly, Microvesic... |
OMIM:619418 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hepatomegaly, Intracerebral periventricular calcifications, Dystonia, Microce... |
OMIM:615846 |
Crome Syndrome |
|
Microcephaly, Short stature, Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements |
OMIM:245348 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Abnormal mesentery morphology, Abnormali... |
ORPHA:2075 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Leukoencephalopathy, Abnormal cerebral white matter morphology, Pa... |
ORPHA:298 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Hypospadias, Microcephaly, Cerebral at... |
OMIM:615471 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Ataxia, Hypo... |
ORPHA:699 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaric aciduria, Cerebellar dysplasia |
OMIM:250951 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Short stature, Hypospa... |
ORPHA:2959 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Leukoencephalopathy, Renal tubular dysfunct... |
OMIM:220110 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal globus pallidus morphology, Abnormality of the liver, Hepatomegaly, Abnormal blood inorg... |
ORPHA:309854 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hypokalemia, Hyperaldosteronism, Dexa... |
ORPHA:369929 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Ovarian cyst,... |
ORPHA:562 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Increased muscle glycogen content, Growth delay, Hyper... |
OMIM:261750 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97283 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Osteoporosis, Rickets, Death in adolescence, Death in childhood, Type I dia... |
OMIM:560000 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Renal hypoplasia, Azotemia, I... |
OMIM:619321 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Hyperhomocystinemia, Ele... |
OMIM:614857 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Microcephaly, Hydrocephalus, Cerebral atrophy, Grow... |
OMIM:614886 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... |
ORPHA:249 |
Ogden Syndrome |
|
Microretrognathia, Abnormal head movements, Cryptorchidism, Shuffling gait, Lethargy |
ORPHA:276432 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Short stature, De... |
ORPHA:79259 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... |
ORPHA:1667 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Cerebral calcification, Proteinuria, Microcephaly, Splenomegaly, Inability to walk,... |
OMIM:617303 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... |
OMIM:611881 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cholestasis, Reduced number of... |
ORPHA:52 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Abnormal periventri... |
OMIM:615960 |
Donohue Syndrome |
|
Postnatal growth retardation, Long penis, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hy... |
OMIM:246200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Absent septum pellucidum... |
OMIM:300868 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Duplicated collecting system, Hypertriglyceridemia, Hepatocellular... |
OMIM:118450 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:212138 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a... |
ORPHA:171 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Adrenomyodystrophy |
|
Megacystis, Abnormality of the urinary system, Hepatic steatosis, Short stature |
ORPHA:977 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Rickets, Hyp... |
ORPHA:213 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Opisthotonus, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Tremor, Steppage gait, ... |
OMIM:613280 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Intrauterin... |
OMIM:615710 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Chorea, Titubation, Bradykinesia, Gait ataxia, Gait disturbance, Dysphagia, Abnormal posturing |
ORPHA:225147 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Abnormal... |
ORPHA:99845 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Elevated circulatin... |
ORPHA:69665 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Dystonia... |
ORPHA:309256 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice... |
OMIM:229600 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Tip-toe gait, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepatic failure |
ORPHA:746 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... |
OMIM:227810 |
Mednik Syndrome |
|
Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fat... |
OMIM:609313 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Anorexia, Rickets, Hepatosplenomegaly, Hypokalemia, Lethargy |
OMIM:611590 |
Familial Atrial Myxoma |
|
Jaundice, Cholestasis |
ORPHA:615 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Short stature, Hypospadias, Abnormality of the pancreas, Splenomegaly, Jaundice, Ch... |
OMIM:222470 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Urinary incontinence, Chorea, Progressive gait ataxia, Abnormal glycosphingolipid metab... |
ORPHA:309271 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Microcephaly,... |
ORPHA:20 |
Medulloblastoma |
|
Elevated hepatic transaminase, Ataxia, Cerebellar calcifications, Hydrocephalus, Progressive macr... |
ORPHA:616 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Growth delay, Steatorrhea |
ORPHA:95427 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... |
OMIM:611126 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Abnormal glycosphingolipid metabolism, Progressive gait ataxia, Punctate pe... |
ORPHA:309263 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Carious teeth, Delayed epiphyse... |
OMIM:277440 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Monosomy 13Q34 |
|
Hypercalcemia, Microcephaly, Fetal pyelectasis, Growth delay, Agenesis of corpus callosum, Hepati... |
ORPHA:96168 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Homocystinuria, Pancre... |
OMIM:236200 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... |
OMIM:264700 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Cirrhosis, Abnormal circulat... |
ORPHA:79086 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Cerebral calcification, Short ... |
OMIM:613658 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Enteric Anendocrinosis |
|
Cholestatic liver disease, Portal hypertension |
ORPHA:83620 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Gait disturbance, ... |
ORPHA:93160 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parat... |
ORPHA:157215 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... |
OMIM:109130 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility to fractures,... |
OMIM:146300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Ataxia, Cholangitis, Short stature, Microcephaly, Pancreatic ... |
OMIM:266920 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Aqueductal stenosis, Hypoalbuminemia, Hepatic fibrosis, Elevated g... |
OMIM:619534 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Ricke... |
ORPHA:289157 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing, Multiple joint contractures, Dysphagia |
OMIM:128100 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognath... |
ORPHA:369837 |
Congenital Enterovirus Infection |
|
Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure |
ORPHA:292 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Triosephosphate Isomerase Deficiency |
|
Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cerebral atrophy, Cholecystitis, Prolong... |
OMIM:615512 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Elevated hemoglobin A1c, Short stature, Postnatal growth retardation, Cerebellar hypoplas... |
OMIM:616113 |
Dubowitz Syndrome |
|
Short stature, Hypospadias, Microcephaly, Postnatal growth retardation, Hypocholesterolemia, Intr... |
OMIM:223370 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu... |
OMIM:241530 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Kaufman Oculocerebrofacial Syndrome |
|
Microcephaly, Short stature, Hypoplasia of the corpus callosum, Hypocholesterolemia |
OMIM:244450 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hyperlipidemia, Delayed ... |
OMIM:232200 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia |
ORPHA:31150 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... |
ORPHA:231580 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... |
ORPHA:90363 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Short stature,... |
ORPHA:168577 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Abnormality of... |
ORPHA:2869 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Microcephaly, Intrahepatic cholestasis, Myel... |
OMIM:607330 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Shigellosis |
|
Hyponatremia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Abnormal blood ion concentratio... |
ORPHA:810 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhi... |
OMIM:613610 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... |
ORPHA:90791 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Micrognathia, Insulin-resistan... |
ORPHA:2457 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Ataxia, Osteoporosis, Thyroiditis, Steatorrhea, Rickets, Hypocalce... |
OMIM:212750 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Increased circulating free fatty acid level |
ORPHA:293964 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... |
ORPHA:100086 |
Sandifer Syndrome |
|
Abnormal head movements, Abnormal posturing |
ORPHA:71272 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Short stature, Prot... |
OMIM:616026 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Spl... |
OMIM:232220 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Miscarriage, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardatio... |
ORPHA:96181 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... |
ORPHA:90790 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Rhizomelia, Hypospadias, Microc... |
ORPHA:818 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Elevated circulating creatine kinase concentration, Microcep... |
OMIM:613150 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Micropenis, Hepatic steatosis, Intention tremor, Ataxia, Hypospadias, Macrocephaly, Hyperbilirubi... |
OMIM:619475 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Microcephaly, Postnatal growth retardation, Growth delay, Intrauterine g... |
OMIM:210900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Ketonuria, Microcephaly, Tremor, Microvesicular h... |
OMIM:220111 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Cholestasis |
ORPHA:293173 |
Wolf-Hirschhorn Syndrome |
|
Ataxia, Hypospadias, Abnormality of the kidney, Microcephaly, Abnormality of the gallbladder, Abn... |
ORPHA:280 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati... |
ORPHA:280365 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... |
OMIM:137920 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Osteoporosis, Rickets, Joint hyperflexib... |
ORPHA:1901 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder |
ORPHA:349 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Wide penis, Chiari type I malformation, Vesicoureteral reflux, Dilatation of renal calice... |
ORPHA:3455 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Renal insuf... |
OMIM:276700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Renal dysplasia, Occipital encephalocele, Agyria, Elevated circulating creatine kinase concentrat... |
OMIM:236670 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased... |
ORPHA:90041 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Chorea, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath... |
OMIM:612089 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Steatorrhea |
ORPHA:92050 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Elevated circulating alkaline ... |
ORPHA:521219 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
47,Xyy Syndrome |
|
Hypospadias, Hydrocephalus, Macrocephaly, Dysgenesis of the cerebellar vermis, Micropenis, Cerebe... |
ORPHA:8 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97278 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati... |
ORPHA:774 |
Listeriosis |
|
Somatic sensory dysfunction, Liver abscess, Ataxia, Tremor, Jaundice, Peritonitis, Pyelonephritis... |
ORPHA:533 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence, Microcephaly |
OMIM:619934 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematur... |
ORPHA:781 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Spina bifida, Micrognathia, Trismus, Flexion contracture, Osteoporosis,... |
ORPHA:2671 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Anencephaly, Stillbirth, Adrenal gland dysgenesis, Intrauterine g... |
OMIM:236680 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Dent Disease 1 |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Aromatase Deficiency |
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Growth delay, Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Oculocerebrorenal Syndrome Of Lowe |
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Mandibular prognathia, Hyperparathyroidism, Hypoammonemia, Micrognathia, Compulsive behaviors, Ab... |
ORPHA:534 |
Vipoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97282 |
Degcags Syndrome |
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Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Microce... |
OMIM:619488 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Grfoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97261 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Vici Syndrome |
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Elevated circulating creatine kinase concentration, Micrognathia, Abnormal thymus morphology, Dys... |
OMIM:242840 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Dystonia, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenome... |
OMIM:618278 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney, Microcephaly, Abnorma... |
ORPHA:1606 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Hepatomegaly, Cholestasis |
OMIM:620233 |
Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... |
OMIM:201810 |
Autosomal Recessive Hypophosphatemic Rickets |
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Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... |
ORPHA:99413 |
Turner Syndrome |
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Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... |
ORPHA:881 |
Mosaic Monosomy X |
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Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... |
ORPHA:99226 |
Ogden Syndrome |
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Global glomerulosclerosis, Torticollis, Short stature, Microcephaly, Postnatal growth retardation... |
OMIM:300855 |
X-Linked Hypophosphatemia |
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Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Glucagonoma |
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Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97280 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... |
OMIM:600740 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
Ileal Neuroendocrine Tumor |
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Elevated hepatic transaminase, Hepatic failure, Hydronephrosis, Extrahepatic cholestasis |
ORPHA:100078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Macrocephaly, Cholelithiasis |
OMIM:301066 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Cholangitis, Cholecystitis |
ORPHA:183675 |
Occipital Horn Syndrome |
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Recurrent urinary tract infections, Cerebral calcification, Jaundice, Hepatitis, Cholestasis, Bla... |
ORPHA:198 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Broad-based gait, Portal hypertension, Unilateral renal agenesis, Hypomagnesemia, Cholestasis, He... |
OMIM:619503 |
Zollinger-Ellison Syndrome |
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Increased urinary cortisol level, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Increased ci... |
ORPHA:913 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, Microcephaly, Spl... |
OMIM:188400 |
Cog1-Cdg |
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Cerebellar vermis hypoplasia, Rhizomelia, Postnatal growth retardation, Temporal cortical atrophy... |
ORPHA:263508 |
Cystinosis, Nephropathic |
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Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Rickets, ... |
OMIM:219800 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Adrenal gland agenesis, Intrauterine growth retardation |
OMIM:611812 |
Bilateral Perisylvian Polymicrogyria |
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Cerebellar vermis hypoplasia, Microcephaly, Perisylvian predominant thick cortex pachygyria, Bila... |
ORPHA:98889 |
Alström Syndrome |
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Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... |
ORPHA:64 |
Multiple Endocrine Neoplasia Type 4 |
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Increased urinary cortisol level, Hypercalcemia, Insulinoma, Extrahepatic cholestasis, Increased ... |
ORPHA:276152 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteomalacia, Rickets, Osteoporosis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Dent Disease |
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Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... |
ORPHA:1652 |
Zellweger Syndrome |
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Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Short statur... |
ORPHA:912 |
Infantile Nephropathic Cystinosis |
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Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypokalemia, Hypoph... |
ORPHA:411629 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
Doors Syndrome |
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Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism, Sirenomelia, Delayed e... |
ORPHA:79500 |
Atypical Werner Syndrome |
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Renal neoplasm, Hypertriglyceridemia, Short stature, Glycosuria, Delayed puberty, Hepatic steatosis |
ORPHA:79474 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration... |
ORPHA:99827 |
Kawasaki Disease |
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Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Cholecystitis |
ORPHA:2331 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Microcephaly, Hydroceph... |
OMIM:253280 |
Hartsfield Syndrome |
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Diabetes insipidus, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Hypernatremia, Age... |
OMIM:615465 |
Congenital Disorder Of Glycosylation, Type Im |
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Death in infancy, Increased circulating free fatty acid level |
OMIM:610768 |
Neonatal Adrenoleukodystrophy |
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Abnormality of the liver, Short stature, Macrocephaly |
ORPHA:44 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Micrognathia, Cryptorchidism, Osteoporos... |
ORPHA:2636 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Tetraamelia Syndrome 1 |
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Asplenia, Adrenal gland agenesis, Micrognathia |
OMIM:273395 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... |
ORPHA:3337 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic ... |
ORPHA:405 |
Pyknoachondrogenesis |
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Sclerosis of skull base, Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly... |
ORPHA:3003 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Spl... |
OMIM:619381 |
Unilateral Polymicrogyria |
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Abnormal posturing, Pseudobulbar paralysis |
ORPHA:268943 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Adrenal calcification, Hepatic calcification, Abnormal calcification of the carpal ... |
ORPHA:51608 |
Infantile Refsum Disease |
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Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Ataxia, Elevated circulatin... |
ORPHA:772 |