se-atlas

Mapping of Health Care Providers
for People with Rare Diseases


In the following you will find the diseases that are treated in this facility:
2-hydroxyglutaric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxyisobutyric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconic aciduria 46,XX disorder of sex development 46,XY disorder of sex development ALG1-CDG ALG11-CDG ALG12-CDG ALG13-CDG ALG2-CDG ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG Acute lung injury Acute respiratory coronavirus infection Addison disease Adult polyglucosan body disease Allergic bronchopulmonary aspergillosis Alpha-1-antitrypsin deficiency Aminoacylase deficiency Argininemia Argininosuccinic aciduria Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease B4GALT1-CDG Beta-ketothiolase deficiency Bronchiolitis obliterans with obstructive pulmonary disease Bronchopulmonary dysplasia CAD-CDG CCDC115-CDG Carbamoyl-phosphate synthetase 1 deficiency Cerebral organic aciduria Citrullinemia Classic galactosemia Classic organic aciduria Combined malonic and methylmalonic acidemia Congenital bronchobiliary fistula Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital lobar emphysema Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital myasthenic syndromes with glycosylation defect Congenital pulmonary airway malformation Congenital pulmonary sequestration Congenital tracheomalacia Cystic fibrosis Cystinosis DDOST-CDG DK1-CDG DPAGT1-CDG DPM1-CDG DPM3-CDG Defect in V-ATPase Defect in conserved oligomeric Golgi complex Diffuse alveolar hemorrhage Diffuse panbronchiolitis Disorder of amino acid and other organic acid metabolism Disorder of biogenic amine metabolism and transport Disorder of carbohydrate metabolism Disorder of energy metabolism Disorder of galactose metabolism Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of lipid metabolism Disorder of lysosomal-related organelles Disorder of metabolite absorption and transport Disorder of multiple glycosylation Disorder of porphyrin and haem metabolism Disorder of protein N-glycosylation Disorder of protein O-glycosylation Disorder of purine or pyrimidine metabolism Disorder of sex development Disorder of urea cycle metabolism and ammonia detoxification Erythrocyte galactose epimerase deficiency Familial cystic renal disease Familial spontaneous pneumothorax Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease GNE myopathy Galactokinase deficiency Galactose epimerase deficiency Galactosemia Generalized galactose epimerase deficiency Genetic precocious puberty Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease Glycogen storage disease due to GLUT2 deficiency Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen synthase deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency HSD10 disease Hurler syndrome Hurler-Scheie syndrome Hyaluronidase deficiency Hyperammonemia due to N-acetylglutamate synthase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperinsulinism-hyperammonemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Idiopathic bronchiectasis Infantile apnea Infantile nephronophthisis Interstitial lung disease in childhood and adulthood Interstitial lung disease specific to childhood Isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia Juvenile nephronophthisis Kallmann syndrome Laryngotracheoesophageal cleft Leukocyte adhesion deficiency type II Lysosomal disease MAN1B1-CDG MGAT2-CDG MOGS-CDG MPDU1-CDG MPI-CDG McCune-Albright syndrome Meconium aspiration syndrome Methylmalonic acidemia with homocystinuria Methylmalonic acidemia without homocystinuria Mucopolysaccharidosis Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Multiple carboxylase deficiency Multiple endocrine neoplasia Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Nephronophthisis Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Organic aciduria Ornithine transcarbamylase deficiency Other metabolic disease PGM1-CDG PGM3-CDG PMM2-CDG Peroxisomal disease Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 Primary ciliary dyskinesia Primary ciliary dyskinesia-retinitis pigmentosa syndrome Primary pulmonary hypoplasia Propionic acidemia Pulmonary agenesis Pulmonary alveolar microlithiasis Pulmonary nodular lymphoid hyperplasia RFT1-CDG Rare epilepsy Rare hypoparathyroidism Rare inborn errors of metabolism Rare pulmonary disease Recurrent respiratory papillomatosis Renal or urinary tract malformation Respiratory malformation Reunion Island Larsen syndrome SLC35A1-CDG SLC35A2-CDG SLC39A8-CDG SRD5A3-CDG SSR4-CDG STT3A-CDG STT3B-CDG Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Sanfilippo syndrome type D Scheie syndrome Siegler-Brewer-Carey syndrome Staphylococcal necrotizing pneumonia Sudden infant death-dysgenesis of the testes syndrome Syndromic multisystem autoimmune disease due to Itch deficiency TMEM165-CDG TMEM199-CDG Thrombotic microangiopathy Tracheal agenesis Tracheobronchopathia osteochondroplastica Tuberous sclerosis complex Turner syndrome Young syndrome