SE-ATLAS

Disorder of galactose metabolism MAN1B1-CDG ALG1-CDG ALG2-CDG MGAT2-CDG ALG9-CDG Polyglucosan body myopathy type 1 MOGS-CDG ALG13-CDG B4GALT1-CDG Adult polyglucosan body disease Mucopolysaccharidosis type 2, severe form Argininemia Congenital tracheomalacia Mucopolysaccharidosis type 2, attenuated form Glycogen storage disease due to glucose-6-phosphatase deficiency Disorder of amino acid and other organic acid metabolism Glycogen storage disease Defect in conserved oligomeric Golgi complex Autism spectrum disorder-epilepsy-arthrogryposis syndrome Glycogen storage disease due to glycogen debranching enzyme deficiency Staphylococcal necrotizing pneumonia Disorder of energy metabolism Congenital diaphragmatic hernia Glycogen storage disease due to glycogen branching enzyme deficiency Mucopolysaccharidosis type 4A Laryngotracheoesophageal cleft Glycogen storage disease due to muscle glycogen phosphorylase deficiency Erythrocyte galactose epimerase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Multiple endocrine neoplasia Generalized galactose epimerase deficiency Syndromic multisystem autoimmune disease due to Itch deficiency CAD-CDG Disorder of biogenic amine metabolism and transport Multiple endocrine neoplasia type 1 Primary ciliary dyskinesia Multiple endocrine neoplasia type 2 Mucopolysaccharidosis Hyperammonemia due to N-acetylglutamate synthase deficiency Nephronophthisis Methylmalonic acidemia without homocystinuria Primary ciliary dyskinesia-retinitis pigmentosa syndrome DPAGT1-CDG Rare epilepsy TMEM199-CDG Other metabolic disease HSD10 disease Disorder of protein O-glycosylation Mucopolysaccharidosis type 4B Disorder of purine or pyrimidine metabolism Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Renal or urinary tract malformation Diffuse panbronchiolitis 46,XX difference of sex development Ornithine transcarbamylase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency 3-hydroxyisobutyric aciduria Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency DPM3-CDG Glycogen storage disease due to phosphoglycerate mutase deficiency Congenital dyserythropoietic anemia type II Congenital pulmonary airway malformation PGM3-CDG Galactokinase deficiency Reunion Island Larsen-like syndrome Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Congenital respiratory-biliary fistula SRD5A3-CDG Classic galactosemia Galactose epimerase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Polyglucosan body myopathy type 2 Beta-ketothiolase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to glycogen synthase deficiency Congenital disorder of glycosylation Disorder of lysosomal-related organelles Severe acute respiratory syndrome Rare hypoparathyroidism Leukocyte adhesion deficiency type II Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 3-methylcrotonyl-CoA carboxylase deficiency Hyperinsulinism-hyperammonemia syndrome TMEM165-CDG Disorder of protein N-glycosylation Thrombotic microangiopathy Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Carbamoyl-phosphate synthetase 1 deficiency Sudden infant death-dysgenesis of the testes syndrome Multiple carboxylase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Pulmonary nodular lymphoid hyperplasia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Mucopolysaccharidosis type 6, rapidly progressing McCune-Albright syndrome 46,XY difference of sex development Congenital lobar emphysema Interstitial lung disease in childhood and adulthood Recurrent respiratory papillomatosis 2-hydroxyglutaric aciduria 3-hydroxy-3-methylglutaric aciduria Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form DK1-CDG Idiopathic bronchiectasis Congenital pulmonary sequestration Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Genetic cystic renal disease Sanfilippo syndrome type A Argininosuccinic aciduria Mucopolysaccharidosis type 6, slowly progressing Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 4 Glutaryl-CoA dehydrogenase deficiency Sanfilippo syndrome type C Multiple endocrine neoplasia type 2B Juvenile nephronophthisis Pulmonary alveolar microlithiasis Sanfilippo syndrome type B Infantile nephronophthisis Addison disease Pulmonary agenesis Respiratory malformation Siegler-Brewer-Carey syndrome Sanfilippo syndrome type D Glycogen storage disease due to phosphoglycerate kinase 1 deficiency RFT1-CDG Glycogen storage disease due to muscle phosphorylase kinase deficiency Lysosomal disease Isovaleric acidemia Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 SLC35A2-CDG Defect in V-ATPase Propionic acidemia Glycogen storage disease due to acid maltase deficiency, infantile onset Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Aldosterone-producing adenoma Familial spontaneous pneumothorax Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Peroxisomal disease Fanconi-Bickel syndrome CCDC115-CDG Diffuse alveolar hemorrhage Glycogen storage disease due to hepatic glycogen synthase deficiency SLC35A1-CDG Mucoviscidose Glycogénose par déficit en lactate déshydrogénase Acidémie méthylmalonique avec homocystinurie Syndrome de Hurler Glycogénose par déficit en maltase acide Acromégalie Insuffisance surrénalienne aiguë Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres glycosylphosphatidylinositol Syndrome de Scheie Polykystose rénale autosomique dominante Polykystose rénale autosomique récessive Syndrome de Hurler-Scheie Acidurie organique cérébrale Citrullinémie Anomalies multiples de la glycosylation Déficit en 2-méthylbutyryl-CoA déshydrogénase Trouble du métabolisme des hydrates de carbone Déficit en isobutyryl-CoA déshydrogénase Glycogénose par déficit en sous-unité M de la lactate déshydrogénase Acidurie organique classique Myopathie liée à GNE Glycogénose par déficit en aldolase A musculaire Agression pulmonaire aiguë Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac Pneumopathie interstitielle spécifique de l'enfance Déficit en alpha-1-antitrypsine SLC39A8-CDG Syndrome de Young Syndrome de Turner Puberté précoce génétique Glycogénose par déficit en enzyme branchante de l'adulte, forme neuromusculaire Glycogénose avec cardiomyopathie sévère par déficit en glycogénine Glycogénose par déficit en sous-unité H de la lactate déshydrogénase ALG11-CDG Acidurie 3-méthylglutaconique STT3A-CDG Syndrome de Kallmann Glycogénose par déficit en maltase acide à début tardif Dystrophie musculaire congénitale avec déficience intellectuelle et épilepsie sévère Différence du développement sexuel DDOST-CDG Déficit en hyaluronidase Déficit en aminoacylase Acidurie organique Agénésie de la trachée Aspergillose broncho-pulmonaire allergique Trouble du métabolisme de la porphyrine et de l'hème Trouble du métabolisme des lipides PMM2-CDG Dysplasie broncho-pulmonaire SSR4-CDG Anomalie de transport et d'absorption des métabolites Hypoplasie pulmonaire primitive Trachéobronchopathie chondro-ostéoplastique Syndrome d'aspiration méconiale Bronchiolite oblitérante ALG6-CDG Apnée infantile Acidémie combinée malonique et méthylmalonique MPI-CDG PGM1-CDG MPDU1-CDG Syndromes myasthéniques congénitaux par défaut de glycosylation Galactosémie DPM1-CDG ALG3-CDG ALG8-CDG Glycogénose par déficit en LAMP-2 STT3B-CDG ALG12-CDG Cystinose