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Home > European References Networks > ERKNet - European Reference Network on Rare Kidney Diseases
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First Representative
Enrico Vidal
UOC Nefrologia Pediatrica
enrico.vidal@aopd.veneto.it
Second Representative
Germana Longo
UOC Nefrologia Pediatrica
germana.longo@aopd.veneto.it

ERKNet - European Reference Network on Rare Kidney Diseases

ERKNet is the European Reference Network on Rare Kidney Diseases, a consortium of expert pediatric and adult nephrology centers across 24 European countries providing healthcare to more than 70,000 patients with rare kideny disorders, including glomerulopathies and congenital anomalies of kidney and urinary tract. The network is also committed to addressing ultra-rare diseases, such as ereditary tubulopathies, tubule-interstitial diseases and thrombotic microangiopathies. 
The ERKNet partners offer top quality multidisciplinary healthcare for a wide range of rare kidney disorders. They uniformly apply clinical guidelines and pathways according to the latest medical knowledge and strictly monitor the quality and outcomes of therapy across the Network.
ERKNet is also dedicated to improve the knowledge about rare kidney diseases among patients and healthcare professionals, and disseminates disease information via its website and by education and training activities. 
ERKNeto ffers virtual consultation services to physicians throughout Europe who need advice for challenging cases with a rare kidney disease. The Network actively supports clinical research to improve diagnosis, risk prediction and development of new therapies for patients with rare kidney disorders.  
The Network works in close contact with European patient advocates (ePAGs) and different renal patient communities and organisations. 

Related Structures

UOC Nefrologia 2
UOC Nefrologia Pediatrica

Desease list

Code ORPHACode ERNDenomination
OPRHA:1652Dent Disease
ORPHA: 761IgA Vasculitis
ORPHA:1031Amelogenesis Imperfecta - Nephrocalcinosis
ORPHA:105Urethral Atresia
ORPHA:1064Aniridia-Renal Agenesis-Psychomotor Delay Syndrome
ORPHA:107Branchio-Oto-Renal Syndrome
ORPHA:110Bardet-Biedl Syndrome
ORPHA:112Bartter Syndrome
ORPHA:1133AREDYLD ((Autosomal Recessive Dystrophic Epidermolysis Bullosa with Low Birth Weight and Developmental Delay)
ORPHA:116Beckwitt-Wiedemann Syndrome
ORPHA:1309Medullary Sponge Kidney
ORPHA:138CHARGE Syndrome
ORPHA:139446SERKAL Syndrome
ORPHA:140969Saldino-Mainzer Syndrome
ORPHA:140976RHYNS Syndrome
ORPHA:140997Orofaciodigital Syndrome
ORPHA:1475Renal-coloboma Sydrnome
ORPHA:1515Cranio-Ectodermal Dysplasia
ORPHA:163696Action Myoclonus-Renal Failure Syndrome
ORPHA:166Autosomal Dominant Intermediate Charcot-Marie-Tooth, Type E
ORPHA:18Distale Renal Tubular Acidosis
ORPHA:182050MYH9-Related Disease
ORPHA:1830Schimke Immuno-Osseous Dysplasia
ORPHA:1848Bilateral Renal Agenesis
ORPHA:1896EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Clefting)
ORPHA:195Cat Eye Syndrome
ORPHA:199Cornelia de Lange Syndrome
ORPHA:199343EAST Syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy)
ORPHA:2052Fraser Syndrome
ORPHA:2065Galloway-Mowat Syndrome
ORPHA:213Nephropathic Cystinosis
ORPHA:2134Atypical Hemolytic Uremic Syndrome
ORPHA:214Cystinuria
ORPHA:217266BNAR Syndrome (Branchiootorenal)
ORPHA:217330Familial Juvenile Hyperuricemic Nephropathy, Type 2
ORPHA:2197Idiopathic Hypercalciuria
ORPHA:220Denys-Drash Syndrome
ORPHA:223Nephrogenic Diabetes Insipidus
ORPHA:2237Hypoparathyroidism-Deafness-Renal Disease
ORPHA:2241Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
ORPHA:2260Oligomeganephronia
ORPHA:2318Senior-Loken Syndrome
ORPHA:2322Kabuki Syndrome
ORPHA:238637Megacystis-Megaureter Syndrome
ORPHA:238650Congenital Refluxing Megaureter
ORPHA:2614Nail-Patella Syndrome
ORPHA:2670Pierson Syndrome
ORPHA:2697Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
ORPHA:2704Ochoa Syndrome
ORPHA:280Wolf-Hirschhorn Syndrome
ORPHA:280406Familial Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness
ORPHA:289Ellis-Van Creveld Syndrome
ORPHA:289365Familial Vesicoureteral Reflux
ORPHA:293355Methylmalonic Acidemia
ORPHA:294415Renal-Hepatic-Pancreatic Dysplasia
ORPHA:2970Prune Belly Syndrome
ORPHA:300333Nephrotic Syndrome-Deafness-Epidermolysis Bullosa Pretibial
ORPHA:300547Autosomal Recessive Infantile Hypercalcemia
ORPHA:306504Congenital Nephrotic Syndrome-Interstitial Pneumopathy-Epidermolysis Bullosa
ORPHA:3109Mayer-Rokitansky-Küster-Hauser Syndrome
ORPHA:3186Steinfeld Syndrome
ORPHA:322Cloacal Exstrophy-Epispadias-Exstrophy Complex
ORPHA:324Fabry Disease
ORPHA:3327Thyroid-Brain-Kidney Syndrome
ORPHA:3337Primary Fanconi Syndrome
ORPHA:3378Trisomy 13
ORPHA:3380Trisomy 18
ORPHA:34145IgA Nephropathy (when eGFR <80ml/min/1.73m²)
ORPHA:34149Autosomal Dominant Medullary Cystic Kidney Disease with or without Hyperuricemia
ORPHA:34526Primary Hereditary Hypomagnesemia
ORPHA:3467Hereditary Xanthinuria
ORPHA:347Frasier Syndrome
ORPHA:357502Idiopathic Nephrotic Syndrome
ORPHA:358Gitelman Syndrome
ORPHA:397715Jeune Syndrome
ORPHA:401996Interstitial Nephritis with Cardiomegaly
ORPHA:416Primary Hyperoxaluria
ORPHA:437Hypophosphatemic Rickets
ORPHA:439897Lethal Fetal Cerebro-Renal-Urogenital Agenesis/Hypoplasia Syndrome
ORPHA:449395IgG4-Related Kidney Disease
ORPHA:47159Proximal Renal Tubular Acidosis
ORPHA:475Joubert Syndrome
ORPHA:478Kallmann Syndrome
ORPHA:508Leprechaunism
ORPHA:52Alagille Syndrome
ORPHA:526Pseudoaldosteronism, Type 1
ORPHA:528105Hypokalemic Alkalosis Associated with CLDN10
ORPHA:534Lowe Syndrome
ORPHA:536Systemic Lupus Erythematosus
ORPHA:54057Thrombotic Thrombocytopenic Purpura
ORPHA:54370Primary Membranoproliferative Glomerulonephritis (when eGFR <80ml/min/1.73m²)
ORPHA:544578Obstructive and Refluxing Congenital Megaureter
ORPHA:564Meckel Syndrome
ORPHA:56722q11.2 Deletion Syndrome
ORPHA:617Congenital primary megaureter
ORPHA:63Alport Syndrome
ORPHA:64Alström Syndrome
ORPHA:648Noonan Syndrome
ORPHA:650LCAT Deficiency
ORPHA:655Nephronophthisis
ORPHA:656Familial Steroid-Resistant Idiopathic Nephrotic Syndrome
ORPHA:672Pallister-Hall Syndrome
ORPHA:69061Steroid-Sensitive Nephrotic Syndrome
ORPHA:69063Maternal Anti-Neutral Endopeptidase Alloimmunization-Associated Congenital Membranous Nephropathy
ORPHA:69735Hypotrichosis-Lymphedema-Telangiectasia
ORPHA:699Pearson Syndrome
ORPHA:71273Nutcracker Syndrome
ORPHA:727Microscopic Polyangiitis
ORPHA:730Autosomal Dominant Polycystic Kidney Disease
ORPHA:731Autosomal Recessive Polycystic Kidney Disease
ORPHA:757Pseudoaldosteronism, Type 2
ORPHA:783Rubinstein-Taybi Syndrome
ORPHA:79118Neonatal Diabetes Syndrome with Hypothyroidism, Congenital Glaucoma, Congenital Fibrosis, and Polycystic Kidney Disease
ORPHA:798Schinzel-Giedion Syndrome
ORPHA:805Tuberous Sclerosis
ORPHA:818Smith-Lemli-Opitz Syndrome
ORPHA:839Finnish Type Congenital Nephrotic Syndrome
ORPHA:84081Senior-Boichis Syndrome
ORPHA:84085Hinman Syndrome
ORPHA:84271Sporadic Steroid-Resistant Idiopathic Nephrotic Syndrome
ORPHA:85450Hereditary Amyloid Nephropathy
ORPHA:857Townes-Brocks Syndrome
ORPHA:881Turner Syndrome
ORPHA:887VACTERL/VATER Association
ORPHA:88924Polycystic Kidney Disease with Tuberous Sclerosis Complex
ORPHA:892von Hippel-Lindau Syndrome
ORPHA:893WAGR Syndrome (Wilms Tumor, Aniridia, Genitourinary Anomalies, and Intellectual Disability)
ORPHA:900Granulomatosis with Polyangiitis
ORPHA:90038Typical Hemolytic Uremic Syndrome
ORPHA:904Williams Syndrome
ORPHA:91500Tubulointerstitial Nephritis and Uveitis Syndrome (TINU)
ORPHA:93101Renal Hypoplasia (Unilateral or Bilateral)
ORPHA:93108Renal Dysplasia (Unilateral or Bilateral)
ORPHA:93110Posterior Urethral Valve
ORPHA:93111Renal Cyst and Diabetes Syndrome
ORPHA:93126Pauci-Immune Glomerulonephritis
ORPHA:93571Dense Deposit Disease (when eGFR <80ml/min/1.73m²)
ORPHA:93930Bladder Exstrophy
ORPHA:956Acro-Thoraco-Renal Dysplasia
ORPHA:971Acro-Renal Syndrome
ORPHA:97364Bilateral Multicystic Dysplastic Kidney
ORPHA:97556Congenital and Genetic Nephrotic Syndrome
ORPHA:97560Primary Membranous Glomerulonephritis (when eGFR <80ml/min/1.73m²)
ORPHA:97563Pauci-Immune Glomerulonephritis with ANCA
ORPHA:97564Pauci-Immune Glomerulonephritis without ANCA
ORPHA:976Adenine Phosphoribosyltransferase Deficiency