SE-ATLAS

Disorder of carbohydrate metabolism Alkaptonuria Disorder of porphyrin and heme metabolism Disorder of lipid metabolism Disorder of metabolite absorption and transport Disorder of amino acid and other organic acid metabolism Disorder of energy metabolism Other metabolic disease Neonatal epileptic encephalopathy due to glutaminase deficiency Argininosuccinic aciduria Acrodermatitis enteropathica Lysosomal glycogen storage disease Carnitine palmitoyl transferase 1A deficiency Rare syndromic dyslipidemia Lysosomal acid phosphatase deficiency Gluconeogenesis disorder Glycogen storage disease due to muscle phosphofructokinase deficiency Rare dyslipidemia Hyperdibasic aminoaciduria type 1 ATP13A2-related juvenile neuronal ceroid lipofuscinosis Sterol biosynthesis disorder Transient tyrosinemia of the newborn Glycogen storage disease due to acid maltase deficiency Infantile neuronal ceroid lipofuscinosis Hereditary coproporphyria Mucolipidosis Greenberg dysplasia Oligosaccharidosis Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to phosphorylase kinase deficiency Adult neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis Hyperprolinemia type 1 Disorder of lysosomal-related organelles Lysosomal disease Rare inborn errors of metabolism Peroxisomal disease Glycoproteinosis Disorder of tryptophan metabolism Hyperinsulinism-hyperammonemia syndrome Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of lysine and hydroxylysine metabolism Saccharopinuria Disorder of glutamine metabolism Sarcosinemia Disorder of sialic acid metabolism Disorder of ornithine metabolism Disorder of proline metabolism Argininemia Exercise-induced hyperinsulinism Histidinemia Histidinuria-renal tubular defect syndrome Organic aciduria Homocarnosinosis Disorder of phenylalanine metabolism Dicarboxylic aminoaciduria Carbamoyl-phosphate synthetase 1 deficiency Disorder of tyrosine metabolism Hyperlysinemia CADDS Haim-Munk syndrome Hydroxykynureninuria 2-aminoadipic 2-oxoadipic aciduria Seizures-intellectual disability due to hydroxylysinuria syndrome Disorder of urea cycle metabolism and ammonia detoxification Disorder of amino acid absorption and transport Disorder of bile acid synthesis Disorder of methionine cycle and sulfur amino acid metabolism Heme oxygenase-1 deficiency Disorder of fatty acid oxidation and ketone body metabolism Disorder of glycerol metabolism Disorder of histidine metabolism Farber disease Disorder of ketolysis Disorder of ornithine or proline metabolism Carnosinase deficiency Disorder of peptide metabolism Disorder of phenylalanin or tyrosine metabolism Disorder of pyridoxine metabolism Disorder of serine or glycine metabolism Disorder of branched-chain amino acid metabolism Fructose-1,6-bisphosphatase deficiency Disorder of the gamma-glutamyl cycle Galactosialidosis Glycogen storage disease Galactosemia GM1 gangliosidosis Gaucher disease Lipid storage disease Disorder of lysosomal amino acid transport Mucopolysaccharidosis Sphingolipidosis Essential fructosuria Spastic ataxia-dysarthria due to glutaminase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Succinic semialdehyde dehydrogenase deficiency Fumaric aciduria Oxoglutaric aciduria Glutathione synthetase deficiency Rotor syndrome Fanconi-Bickel syndrome Sialidosis Glycogen storage disease due to aldolase A deficiency Alpha-mannosidosis Galactose mutarotase deficiency Alpha-N-acetylgalactosaminidase deficiency Hartnup disease Hawkinsinuria Familial chylomicronemia syndrome Iminoglycinuria Aspartylglucosaminuria Sialuria Idiopathic malabsorption due to bile acid synthesis defects AICA-ribosiduria Hypermethioninemia due to glycine N-methyltransferase deficiency Leber hereditary optic neuropathy Barth syndrome Beta-mannosidosis Diamond-Blackfan anemia Hereditary butyrylcholinesterase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Beta-ketothiolase deficiency Isolated succinate-CoQ reductase deficiency Benign recurrent intrahepatic cholestasis Carnitine palmitoyltransferase II deficiency Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Maternal phenylketonuria Lethal ataxia with deafness and optic atrophy Chédiak-Higashi syndrome TMEM70-related mitochondrial encephalo-cardio-myopathy Rare hyperlipidemia Progressive familial intrahepatic cholestasis Hypertryptophanemia Disorder of beta and omega amino acid metabolism Rare major hypertriglyceridemia Rare hypolipidemia Hyperalphalipoproteinemia Citrullinemia Crigler-Najjar syndrome Disorder of asparagine metabolism Urocanic aciduria Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Cystinuria Neuronal ceroid lipofuscinosis Disorder of neutral amino acid transport Dubin-Johnson syndrome Disorder of fructose metabolism Autosomal recessive cutis laxa type 2 Congenital bile acid synthesis defect type 4 Disorder of galactose metabolism Hyperprolinemia type 2 Severe combined immunodeficiency due to adenosine deaminase deficiency Desmosterolosis Mitochondrial neurogastrointestinal encephalomyopathy Glycogen storage disease due to glycogen synthase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Congenital sucrase-isomaltase deficiency Lysosomal acid lipase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Disorder of cobalamin metabolism and transport Rare hereditary hemochromatosis Glucose transport disorder Disorder of pentose phosphate metabolism Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Fucosidosis Combined hyperlipidemia Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Sterol metabolism disorder Disorders of pentose/polyol metabolism Chronic neurovisceral acid sphingomyelinase deficiency Galactokinase deficiency Classic galactosemia Galactose epimerase deficiency Leber plus disease Homocystinuria due to cystathionine beta-synthase deficiency Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Hereditary xanthinuria Mild phenylketonuria Glycine encephalopathy Acid sphingomyelinase deficiency Dysbetalipoproteinemia Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Primary hyperoxaluria Maple syrup urine disease Metachromatic leukodystrophy Oculocerebrorenal syndrome of Lowe Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Disorder of bilirubin metabolism and excretion Disorder of vitamin and non-protein cofactor absorption and transport Disorder of mineral absorption and transport Multiple sulfatase deficiency Rare hypercholesterolemia Dimethylglycine dehydrogenase deficiency Ornithine transcarbamylase deficiency Papillon-Lefèvre syndrome Hemolytic anemia due to glucophosphate isomerase deficiency Phenylketonuria Porphyria Disorder of glyoxylate metabolism Disorder of carbohydrate absorption and transport Pyruvate metabolism disorder Sandhoff disease Mitochondrial disease Tricarboxylic acid cycle disorder Disorder of lipid absorption and transport Pancreatic triacylglycerol lipase deficiency X-linked sideroblastic anemia Disorder of keton body transport Phosphoenolpyruvate carboxykinase deficiency Tay-Sachs disease Triose phosphate-isomerase deficiency Pancreatic colipase deficiency Combined pancreatic lipase-colipase deficiency Neurometabolic disorder due to serine deficiency Disorder of fatty acid oxidation and ketogenesis Blue diaper syndrome Metabolic disease due to other fatty acid oxidation disorder Disorder of carnitine cycle and carnitine transport Gangliosidosis Acatalasemia Congenital erythropoietic porphyria Acute intermittent porphyria Autosomal erythropoietic protoporphyria Hypoalphalipoproteinemia Hypobetalipoproteinemia Isolated complex III deficiency Lipoic acid biosynthesis defect GRACILE syndrome Congenital glucokinase-related hyperinsulinism Hereditary fructose intolerance Lysinuric protein intolerance Disorder of melanin metabolism Hyaluronidase deficiency Kearns-Sayre syndrome Chronic diarrhea due to glucoamylase deficiency Mitochondrial oxidative phosphorylation disorder Trehalase deficiency Krabbe disease Chronic visceral acid sphingomyelinase deficiency Infantile neurovisceral acid sphingomyelinase deficiency 3-phosphoserine phosphatase deficiency, infantile/juvenile form Leigh syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Glycogen storage disease due to muscle beta-enolase deficiency Congenital neuronal ceroid lipofuscinosis MELAS MERRF Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Late infantile neuronal ceroid lipofuscinosis Bilirubin encephalopathy Isolated complex I deficiency X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome Porphyria due to ALA dehydratase deficiency Disorder of pterin metabolism Mucolipidosis type II Mucolipidosis type III Mucolipidosis type IV Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Disorder of other vitamins and cofactors metabolism and transport Disorder of iron metabolism and transport Congenital brain dysgenesis due to glutamine synthetase deficiency Neu-Laxova syndrome Porphyria variegata 3-Phosphoglycerate dehydrogenase deficiency Polyglucosan body myopathy type 1 Hyperzincemia and hypercalprotectinemia NARP syndrome Niemann-Pick disease type C Arthrogryposis-renal dysfunction-cholestasis syndrome Disorder of thiamine metabolism and transport Mitochondrial DNA-related progressive external ophthalmoplegia ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Polyglucosan body myopathy type 2 Pearson syndrome X-linked Charcot-Marie-Tooth disease type 5 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Niemann-Pick disease type E Alpers-Huttenlocher syndrome Genetic primary hypomagnesemia Prolidase deficiency Citrullinemia type I Severe primary trimethylaminuria Severe X-linked mitochondrial encephalomyopathy Pycnodysostosis Pyruvate dehydrogenase deficiency Glycerol kinase deficiency Glycogen storage disease due to LAMP-2 deficiency Pentosuria Citrin deficiency 5-oxoprolinase deficiency Gamma-glutamyl transpeptidase deficiency Glutamate-cysteine ligase deficiency Sialidosis type 1 Bile acid synthesis defect with cholestasis and malabsorption X-linked erythropoietic protoporphyria Ketoacidosis due to monocarboxylate transporter-1 deficiency Erythropoietic uroporphyria associated with myeloid malignancy Succinyl-CoA:3-oxoacid CoA transferase deficiency Free sialic acid storage disease Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Sialidosis type 2 Coenzyme Q10 deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Leigh syndrome with cardiomyopathy Hypotonia-cystinuria syndrome Mitochondrial membrane transport disorder 2p21 microdeletion syndrome Unspecified mitochondrial disorder Glutaric acidemia type 3 De Barsy syndrome Mitochondrial DNA depletion syndrome, myopathic form Progressive epilepsy-intellectual disability syndrome, Finnish type Hyper-beta-alaninemia Serine biosynthesis pathway deficiency, infantile/juvenile form GM2 gangliosidosis Sandhoff disease, infantile form Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency D-glyceric aciduria Sandhoff disease, juvenile form Acute hepatic porphyria Sandhoff disease, adult form Hypotonia-cystinuria type 1 syndrome Hepatoerythropoietic porphyria Atypical hypotonia-cystinuria syndrome Glycogen storage disease due to phosphoglycerate mutase deficiency Porphyria cutanea tarda Primary hypomagnesemia-refractory seizures-intellectual disability syndrome Familial juvenile hyperuricemic nephropathy type 1 Disorder of folate metabolism and transport Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Cardiomyopathy-hypotonia-lactic acidosis syndrome Hyperammonemia due to N-acetylglutamate synthase deficiency Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Chronic hepatic porphyria Pyruvate carboxylase deficiency