Zentrum für seltene Erkrankungen am Clementine Kinderhospital Assigned 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