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 Déficit en galactokinase Syndrome Larsen-like de la Réunion Cardiomyopathie hypertrophique congénitale létale par maladie de stockage du glycogène Fistule congénitale entre voix respiratoires et canaux biliaires SRD5A3-CDG Galactosémie classique Déficit en galactose épimérase Encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA Glycogénose par déficit en enzyme branchante, forme neuromusculaire périnatale fatale Myopathie à corps de polyglucosane type 2 Déficit en bêta-cétothiolase Glycogénose par déficit en phosphorylase kinase hépatique et musculaire Glycogènose par déficit en glycogène synthase Anomalie congénitale de la glycosylation Anomalie des organelles type lysosomes Syndrome respiratoire aigu sévère Hypoparathyroïdie rare Déficit d'adhésion leucocytaire type II Syndrome d'hyperornithinémie-hyperammoniémie-homocitrullinurie Déficit en 3-méthylcrotonyl-CoA carboxylase Syndrome d'hyperinsulinisme et hyperammoniémie TMEM165-CDG Anomalie de la N-glycosylation Microangiopathie thrombotique Glycogénose par déficit en glycogène synthase cardiaque et musculaire Glycogénose par déficit en bêta-énolase musculaire Déficit en carbamoyl-phosphate synthétase 1 Syndrome de mort subite du nourrisson-dysgénésie des testicules Déficit multiple en carboxylases Glycogénose par déficit en glucose-6-phosphatase de type Ib Hyperplasie lymphoïde nodulaire pulmonaire Glycogénose par déficit en glucose-6-phosphatase de type Ia Mucopolysaccharidose type 6, forme rapidement progressive Syndrome de McCune-Albright Différence du développement sexuel 46,XY Emphysème lobaire congénital Pneumopathie interstitielle de l'enfance et de l'adulte Papillomatose respiratoire récurrente Acidurie 2-hydroxyglutarique Acidurie 3-hydroxy-3-méthylglutarique Glycogénose par déficit en enzyme branchante, forme neuromusculaire congénitale DK1-CDG Bronchiectasie idiopathique Séquestration pulmonaire congénitale Glycogénose par déficit en enzyme branchante de l'enfant, forme hépatique et myopathique Maladie kystique rénale d'origine génétique Maladie de Sanfilippo type A Acidurie argininosuccinique Mucopolysaccharidose type 6, forme lentement progressive Néoplasie endocrinienne multiple type 2A Néoplasie endocrinienne multiple type 4 Déficit en glutaryl-CoA déshydrogénase Maladie de Sanfilippo type C Néoplasie endocrinienne multiple type 2B Néphronophtise juvénile Microlithiase pulmonaire alvéolaire Maladie de Sanfilippo type B Néphronophtise infantile Maladie d'Addison Agénésie pulmonaire Malformation respiratoire Syndrome de Siegler-Brewer-Carey Maladie de Sanfilippo type D Glycogénose par déficit en phosphoglycérate kinase 1 Syndrome CDG-RFT1 Glycogénose par déficit en phosphorylase kinase musculaire Maladie lysosomale Acidémie isovalérique Mucopolysaccharidose type 1 Mucopolysaccharidose type 2 Mucopolysaccharidose type 3 Mucopolysaccharidose type 4 Syndrome CDG-SLC35A2 Anomalie de la V-ATPase Acidémie propionique Glycogénose par déficit en maltase acide à début infantile Mucopolysaccharidose type 6 Mucopolysaccharidose type 7 Adénome producteur d'aldostérone Pneumothorax spontané familial Glycogénose par déficit en enzyme branchante de l'enfant, forme neuromusculaire Maladie péroxysomale Fanconi-Bickel syndrome CCDC115-CDG Diffuse alveolar hemorrhage Glycogen storage disease due to hepatic glycogen synthase deficiency SLC35A1-CDG Cystic fibrosis Glycogen storage disease due to lactate dehydrogenase deficiency Methylmalonic acidemia with homocystinuria Hurler syndrome Glycogen storage disease due to acid maltase deficiency Acromegaly Acute adrenal insufficiency Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Scheie syndrome Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Hurler-Scheie syndrome Cerebral organic aciduria Citrullinemia Disorder of multiple glycosylation 2-methylbutyryl-CoA dehydrogenase deficiency Disorder of carbohydrate metabolism Isobutyryl-CoA dehydrogenase deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Classic organic aciduria GNE myopathy Glycogen storage disease due to aldolase A deficiency Acute lung injury Disorder of urea cycle metabolism and ammonia detoxification Interstitial lung disease specific to childhood Alpha-1-antitrypsin deficiency SLC39A8-CDG Young syndrome Turner syndrome Genetic precocious puberty Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency ALG11-CDG 3-methylglutaconic aciduria STT3A-CDG Kallmann syndrome Glycogen storage disease due to acid maltase deficiency, late-onset Congenital muscular dystrophy with intellectual disability and severe epilepsy Difference of sex development DDOST-CDG Hyaluronidase deficiency Aminoacylase deficiency Organic aciduria Tracheal agenesis Allergic bronchopulmonary aspergillosis Disorder of porphyrin and heme metabolism Disorder of lipid metabolism PMM2-CDG Bronchopulmonary dysplasia SSR4-CDG Disorder of metabolite absorption and transport Primary pulmonary hypoplasia Tracheobronchopathia osteochondroplastica Meconium aspiration syndrome Bronchiolitis obliterans ALG6-CDG Infantile apnea Combined malonic and methylmalonic acidemia MPI-CDG PGM1-CDG MPDU1-CDG Congenital myasthenic syndromes with glycosylation defect Galactosemia DPM1-CDG ALG3-CDG ALG8-CDG Glycogen storage disease due to LAMP-2 deficiency STT3B-CDG ALG12-CDG Cystinosis