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:
2p21 microdeletion syndrome AApoAI amyloidosis AApoAII amyloidosis AFib amyloidosis ALys amyloidosis Acquired monoclonal Ig light chain-associated Fanconi syndrome Acromelic dysplasia Acromesomelic dysplasia Action myoclonus-renal failure syndrome Adenine phosphoribosyltransferase deficiency Adrenocortical carcinoma Adult familial nephronophthisis-spastic quadriparesia syndrome Albright hereditary osteodystrophy Alport syndrome Antenatal Bartter syndrome Anti-glomerular basement membrane disease Anti-neutrophil cytoplasmic antibody-associated vasculitis Apparent mineralocorticoid excess Atresia of urethra Atypical hemolytic uremic syndrome Atypical hemolytic uremic syndrome with B factor anomaly Atypical hemolytic uremic syndrome with C3 anomaly Atypical hemolytic uremic syndrome with H factor anomaly Atypical hemolytic uremic syndrome with I factor anomaly Atypical hemolytic uremic syndrome with MCP/CD46 anomaly Atypical hemolytic uremic syndrome with anti-factor H antibodies Atypical hemolytic uremic syndrome with thrombomodulin anomaly Atypical hypotonia-cystinuria syndrome Autosomal dominant Alport syndrome Autosomal dominant distal renal tubular acidosis Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant progressive nephropathy with hypertension Autosomal dominant proximal renal tubular acidosis Autosomal dominant tubulointerstitial kidney disease Autosomal recessive Alport syndrome Autosomal recessive distal renal tubular acidosis with deafness Autosomal recessive distal renal tubular acidosis without deafness Autosomal recessive polycystic kidney disease Autosomal recessive proximal renal tubular acidosis Bartter syndrome Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome with hypocalcemia Basement membrane disease Bickerstaff brainstem encephalitis Bilateral multicystic dysplastic kidney Bladder exstrophy Brachydactyly-arterial hypertension syndrome C3 glomerulonephritis C3 glomerulopathy Campomelic dysplasia and related disorders Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Catecholamine-producing tumor Chondrodysplasia punctata Ciliopathies with major skeletal involvement Cleidocranial dysplasia and isolated cranial ossification defect Cloacal exstrophy Collagen type III glomerulopathy Congenital and infantile nephrotic syndrome Congenital bilateral megacalycosis Congenital hydronephrosis Congenital megacalycosis Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization Congenital nephrotic syndrome, Finnish type Congenital primary megaureter Congenital primary megaureter, nonrefluxing and unobstructed form Congenital primary megaureter, obstructed form Congenital primary megaureter, refluxing form Congenital renal artery stenosis Congenital thrombotic thrombocytopenic purpura Cystic fibrosis Cystinosis Cystinuria Cystinuria type A Cystinuria type B Dense deposit disease Dent disease Dent disease type 1 Dent disease type 2 Denys-Drash syndrome Disorder of carnitine cycle and carnitine transport Disorder of fatty acid oxidation and ketogenesis Disorder of purine or pyrimidine metabolism Disorder of urea cycle metabolism and ammonia detoxification Distal renal tubular acidosis Distal renal tubular acidosis with anemia Dominant hypophosphatemia with nephrolithiasis or osteoporosis Drug-related renal tubular dysgenesis Duplication of urethra Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Enthesitis-related juvenile idiopathic arthritis Epstein syndrome Exstrophy-epispadias complex Fabry disease Familial gestational hyperthyroidism Familial hyperaldosteronism type I Familial hyperthyroidism due to mutations in TSH receptor Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Familial juvenile hyperuricemic nephropathy type 1 Familial primary hypomagnesemia with normocalciuria and normocalcemia Familial steroid-resistant nephrotic syndrome with sensorineural deafness Fechtner syndrome Fibronectin glomerulopathy Frasier syndrome Galactosemia Galloway-Mowat syndrome Generalized pseudohypoaldosteronism type 1 Genetic cystic renal disease Genetic primary hypomagnesemia Genetic primary hypomagnesemia with hypocalciuria Genetic primary hypomagnesemia with normocalciuria Genetic steroid-resistant nephrotic syndrome Gitelman syndrome Glomerular disease Glutaric acidemia type 3 Glutaryl-CoA dehydrogenase deficiency Glycogen storage disease HANAC syndrome Hemolytic uremic syndrome with DGKE deficiency Hereditary amyloidosis with primary renal involvement Hereditary fructose intolerance Hereditary pheochromocytoma-paraganglioma Hereditary renal hypouricemia Hereditary xanthinuria Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hypocomplementemic urticarial vasculitis Hypotonia-cystinuria syndrome Hypotonia-cystinuria type 1 syndrome Idiopathic hypercalciuria Idiopathic nephrotic syndrome Idiopathic steroid-sensitive nephrotic syndrome Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Idiopathic steroid-sensitive nephrotic syndrome with minimal change Immune-mediated thrombotic thrombocytopenic purpura Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunotactoid or fibrillary glomerulopathy Infantile nephronophthisis Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated epispadias Isovaleric acidemia Joubert syndrome with oculorenal defect Juvenile dermatomyositis Juvenile idiopathic arthritis Juvenile nephronophthisis Kosaki overgrowth syndrome LAMB2-related infantile-onset nephrotic syndrome Late-onset nephronophthisis Lethal chondrodysplasia Liddle syndrome Lipoprotein glomerulopathy Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Lysosomal disease MUC1-related autosomal dominant tubulointerstitial kidney disease MYH9-related disease Maple syrup urine disease May-Hegglin thrombocytopenia Medium chain acyl-CoA dehydrogenase deficiency Medullary sponge kidney Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Mesomelic and rhizo-mesomelic dysplasia Methylcobalamin deficiency type cblG Methylmalonic acidemia with homocystinuria Methylmalonic acidemia without homocystinuria Mitochondrial trifunctional protein deficiency Mixed connective tissue disease Multicystic dysplastic kidney Multiple acyl-CoA dehydrogenase deficiency Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple metaphyseal dysplasia Multiple paragangliomas associated with polycythemia NPHP3-related Meckel-like syndrome Nail-patella syndrome Nail-patella-like renal disease Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Nephrogenic diabetes insipidus Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Nephrogenic syndrome of inappropriate antidiuresis Nephronophthisis Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Non-syndromic renal or urinary tract malformation Ochoa syndrome Oculocerebrorenal syndrome of Lowe Oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Oligomeganephronia Osteofibrous dysplasia Osteopetrosis with renal tubular acidosis Otopalatodigital syndrome spectrum disorder Overlapping connective tissue disease Pauci-immune glomerulonephritis Pediatric systemic lupus erythematosus Peroxisomal disease Phenylketonuria Pierson syndrome Polyarticular juvenile idiopathic arthritis Posterior urethral valve Primary Fanconi renotubular syndrome Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal components Primary bone dysplasia with increased bone density Primary bone dysplasia with micromelia Primary bone dysplasia with multiple joint dislocations Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Primary glomerular disease Primary hyperoxaluria Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Primary hyperoxaluria type 3 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Primary hypomagnesemia with secondary hypocalcemia Primary megaureter, adult-onset form Primary membranoproliferative glomerulonephritis Primary membranous glomerulonephritis Primary osteolysis Primary renal tubular acidosis Propionic acidemia Proximal renal tubular acidosis Prune belly syndrome Pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2B Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2E Pseudohypoparathyroidism Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2 Pseudopseudohypoparathyroidism Pseudoxanthoma elasticum Psoriasis-related juvenile idiopathic arthritis REN-related autosomal dominant tubulointerstitial kidney disease RHYNS syndrome Rapidly progressive glomerulonephritis Rare cause of hypertension Rare genetic cause of hypertension Rare hyperlipidemia Rare inborn errors of metabolism Rare infectious disease Rare pediatric systemic disease Rare pediatric vasculitis Rare renal disease Rare renal tubular disease Rare systemic or rheumatological disease of childhood Reactive arthritis Renal agenesis, bilateral Renal agenesis, unilateral Renal coloboma syndrome Renal dysplasia Renal dysplasia, bilateral Renal dysplasia, unilateral Renal hypoplasia Renal hypoplasia, bilateral Renal hypoplasia, unilateral Renal or urinary tract malformation Renal pseudohypoaldosteronism type 1 Renal tubular dysgenesis Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Renal-hepatic-pancreatic dysplasia Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Schimke immuno-osseous dysplasia Sebastian syndrome Secondary glomerular disease Secondary vasculitis Senior-Boichis syndrome Senior-Loken syndrome Shiga toxin-associated hemolytic uremic syndrome Short stature-advanced bone age-early-onset osteoarthritis syndrome Slender bone dysplasia Smith-Lemli-Opitz syndrome Spondylodysplastic dysplasia Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondylometaphyseal dysplasia Sporadic idiopathic steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes Sporadic pheochromocytoma Sporadic pheochromocytoma/secreting paraganglioma Sporadic secreting paraganglioma Syndromic renal or urinary tract malformation Systemic primary carnitine deficiency Systemic-onset juvenile idiopathic arthritis Thrombotic microangiopathy Thrombotic thrombocytopenic purpura Transient pseudohypoaldosteronism Tubulointerstitial nephritis and uveitis syndrome Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 UMOD-related autosomal dominant tubulointerstitial kidney disease Unclassified vasculitis Unilateral congenital megacalycosis Unilateral multicystic dysplastic kidney Unspecified juvenile idiopathic arthritis Urachal cyst Vasculitis due to ADA2 deficiency Very long chain acyl-CoA dehydrogenase deficiency Von Hippel-Lindau disease WAGR syndrome Williams syndrome X-linked Alport syndrome X-linked Alport syndrome-diffuse leiomyomatosis Xanthinuria type I Xanthinuria type II