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 Action myoclonus-renal failure syndrome Adenine phosphoribosyltransferase deficiency Adult familial nephronophthisis-spastic quadriparesia syndrome Aicardi-Goutières syndrome Alport syndrome Alström syndrome Antenatal Bartter syndrome Anti-neutrophil cytoplasmic antibody-associated vasculitis 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 Autoimmune interstitial lung disease-arthritis syndrome Autoinflammatory syndrome of childhood Autosomal dominant Alport syndrome Autosomal dominant distal renal tubular acidosis Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant proximal renal tubular acidosis Autosomal dominant tubulointerstitial kidney disease Autosomal recessive Alport syndrome Autosomal recessive distal renal tubular acidosis Autosomal recessive infantile hypercalcemia Autosomal recessive polycystic kidney disease Autosomal recessive proximal renal tubular acidosis BOR syndrome Bartter syndrome Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome with hypocalcemia Basement membrane disease Behçet disease Bilateral multicystic dysplastic kidney Blau syndrome C3 glomerulonephritis C3 glomerulopathy CANDLE syndrome CINCA syndrome CREST syndrome Cherubism Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis Congenital and infantile nephrotic syndrome Congenital hydronephrosis Congenital nephrotic syndrome, Finnish type Congenital thrombotic thrombocytopenic purpura Cystinuria Cystinuria type A Cystinuria type B DITRA Dense deposit disease Dent disease Dent disease type 1 Dent disease type 2 Denys-Drash syndrome Diffuse cutaneous systemic sclerosis Distal renal tubular acidosis Distal renal tubular acidosis with anemia Dominant hypophosphatemia with nephrolithiasis or osteoporosis Drug-induced vasculitis Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Enthesitis-related juvenile idiopathic arthritis Eosinophilic granulomatosis with polyangiitis Familial Chilblain lupus Familial Mediterranean fever Familial cold urticaria 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 adrenal insufficiency Familial steroid-resistant nephrotic syndrome with sensorineural deafness Fetal lower urinary tract obstruction Fibronectin glomerulopathy Frasier syndrome 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 renal tubular disease Genetic steroid-resistant nephrotic syndrome Genetic thrombotic microangiopathy Gitelman syndrome Granulomatosis with polyangiitis Granulomatous autoinflammatory syndrome of childhood HANAC syndrome Hemolytic uremic syndrome with DGKE deficiency Hepatic fibrosis-renal cysts-intellectual disability syndrome Hereditary pediatric Behçet-like disease Hereditary periodic fever syndrome Hereditary renal hypouricemia Hereditary xanthinuria Hyperimmunoglobulinemia D with periodic fever 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 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 Immunoglobulin A vasculitis Immunoglobulin-mediated membranoproliferative glomerulonephritis Infantile nephronophthisis Infantile nephropathic cystinosis Infantile onset panniculitis with uveitis and systemic granulomatosis Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Isolated autosomal dominant hypomagnesemia, Glaudemans type Joubert syndrome with oculorenal defect Juvenile dermatomyositis Juvenile idiopathic arthritis Juvenile nephronophthisis Juvenile nephropathic cystinosis Juvenile polymyositis Kawasaki disease LAMB2-related infantile-onset nephrotic syndrome Late-onset nephronophthisis Liddle syndrome Limited cutaneous systemic sclerosis Limited systemic sclerosis Lipoprotein glomerulopathy MUC1-related autosomal dominant tubulointerstitial kidney disease MYH9-related disease Megacystis-microcolon-intestinal hypoperistalsis syndrome Methylcobalamin deficiency type cblG Mevalonate kinase deficiency Mevalonic aciduria Microscopic polyangiitis Muckle-Wells syndrome Multicystic dysplastic kidney NLRP12-associated hereditary periodic fever syndrome NLRP3-associated autoinflammatory disease Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome Neonatal inflammatory skin and bowel disease Nephrogenic diabetes insipidus Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome Nephrogenic syndrome of inappropriate antidiuresis Nephronophthisis Nephropathy secondary to a storage or other metabolic disease Oculocerebrorenal syndrome of Lowe Oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Osteopetrosis with renal tubular acidosis Overlapping connective tissue disease PAPA syndrome PFAPA syndrome Pediatric systemic lupus erythematosus Periodic fever syndrome of childhood Periodic fever-infantile enterocolitis-autoinflammatory syndrome Pierson syndrome Polyarticular juvenile idiopathic arthritis Postinfectious vasculitis Primary Fanconi renotubular syndrome 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 renal tubular acidosis Proteasome-associated autoinflammatory syndrome 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 Pseudohypoparathyroidism with Albright hereditary osteodystrophy Pseudohypoparathyroidism without Albright hereditary osteodystrophy Pseudopseudohypoparathyroidism Psoriasis-related juvenile idiopathic arthritis Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Pyogenic autoinflammatory syndrome of childhood REN-related autosomal dominant tubulointerstitial kidney disease RHYNS syndrome Rapidly progressive glomerulonephritis Rare genetic renal disease Rare pediatric rheumatologic disease Rare pediatric vasculitis Rare systemic or rheumatological disease of childhood Renal agenesis Renal coloboma syndrome Renal dysplasia Renal dysplasia, bilateral Renal dysplasia, unilateral Renal pseudohypoaldosteronism type 1 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 STAT3-related early-onset multisystem autoimmune disease STING-associated vasculopathy with onset in infancy Secondary vasculitis Senior-Boichis syndrome Senior-Loken syndrome Severe oculo-renal-cerebellar syndrome 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 Sterile multifocal osteomyelitis with periostitis and pustulosis Systemic sclerosis Systemic-onset juvenile idiopathic arthritis Takayasu arteritis Tumor necrosis factor receptor 1 associated periodic syndrome Type 1 interferonopathy of childhood UMOD-related autosomal dominant tubulointerstitial kidney disease USP18 deficiency Unclassified autoinflammatory syndrome of childhood Unclassified vasculitis Unexplained long-lasting fever/inflammatory syndrome Unexplained periodic fever syndrome of childhood Unilateral multicystic dysplastic kidney Unspecified juvenile idiopathic arthritis Vasculitis due to ADA2 deficiency Ventriculomegaly-cystic kidney disease WAGR syndrome X-linked Alport syndrome X-linked Alport syndrome-diffuse leiomyomatosis Xanthinuria type I Xanthinuria type II