{"orpha":411634,"name":"Juvenile nephropathic cystinosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Intermediate cystinosis","Juvenile cystinosis"],"definition":"A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411634/","orphanet_url":"https://www.orpha.net/en/disease/detail/411634","names":{"fr":{"name":"Cystinose néphropathique juvénile","synonyms":["Cystinose intermédiaire","Cystinose juvénile"],"definition":"Forme de cystinose caractérisée par une accumulation de cystine dans différents organes et tissus, notamment dans les reins et les yeux, qui se manifeste cliniquement entre l'enfance et l'adolescence par une tubulopathie proximale lentement progressive et/ou une protéinurie et une photophobie. Les manifestations extra-rénales (hypothyroïdie, diabète insulinodépendant, hépatosplénomégalie, atteinte musculaire et cérébrale) sont moins sévères que dans la forme infantile de la maladie."},"de":{"name":"Juvenile nephropathische Cystinose"},"es":{"name":"Cistinosis nefropática juvenil","synonyms":["Cistinosis intermedia","Cistinosis juvenil"],"definition":"Es un subtipo de cistinosis caracterizado por el acúmulo de cistina en diferentes órganos y tejidos, particularmente en los riñones y los ojos, y que se manifiesta clínicamente entre la infancia y la adolescencia con tubulopatía proximal y/o proteinuria de progresión lenta y fotofobia. Las manifestaciones extrarrenales (como hipotiroidismo, diabetes insulinodependiente, hepatoesplenomegalia, afectación muscular y cerebral) son menos graves que en la cistinosis nefropática infantil."},"it":{"name":"Cistinosi nefropatica giovanile","synonyms":["Cistinosi giovanile","Cistinosi intermedia"],"definition":"La cistinosi nefropatica giovanile è una forma intermedia, in termini di gravità e di età di esordio, della cistinosi (si veda questo termine), una malattia metabolica caratterizzata da un accumulo di cistina all'interno dei lisosomi, che provoca danni a diversi organi e tessuti, in particolare ai reni e agli occhi."},"nl":{"name":"Juveniele nefropathische cystinose","synonyms":["Intermediaire cystinose","Juveniele cystinose"],"definition":"Een subtype van cystinose, gekarakteriseerd door accumulatie van cystine in verschillende organen en weefsels, vooral in nier en oog, en zich klinisch manifesterend tussen kindertijd en adolescentie met traag progressieve proximale tubulopathie en/of proteïnurie, en fotofobie. Extrarenale manifestaties (e.g. hypothyreoïdie, insuline-afhankelijke diabetes, hepatosplenomegalie, musculaire en cerebrale betrokkenheid) zijn minder ernstig dan bij de infantiele vorm van de ziekte."},"pt":{"name":"Cistinose nefropática juvenil"},"pl":{"name":"Młodzieńcza cystynoza nefropatyczna","synonyms":["Cystynoza młodzieńcza","Cystynoza pośrednia"]},"cs":{"name":"Juvenilní nefropatická cystinóza","synonyms":["Intermediární cystinóza","Juvenilní cystinóza"]},"uk":{"name":"Ювенільний нефропатичний цистиноз","synonyms":["Проміжний цистиноз","Ювенільний цистиноз"],"definition":"A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease."},"zh":{"name":"幼年型肾病性胱氨酸贮积症","synonyms":["中间型胱氨酸病"],"definition":"少年型肾病性胱氨酸病就严重程度和发病年龄而言是胱氨酸病的中间型（见该术语），一种代谢性疾病，其特征是胱氨酸在溶酶体内积累，可损害不同器官和组织（尤其是肾脏和眼）。"},"tr":{"name":"Jüvenil nefropatik sistinoz","synonyms":["Jüvenil sistinoz","Orta düzey sistinoz"]}},"xrefs":[{"source":"OMIM","code":"219900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"N16.3*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C60.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"422905632"},{"source":"MONDO","code":"0009066","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268626","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":213,"name":"Cystinosis","classifications":[147,150,156,188,193,199]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"CTNS","name":"cystinosin, lysosomal cystine transporter","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301574[PMID]","hgnc":"2518","ensembl":"ENSG00000040531","omim":"606272","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-05","source":"18178779[PMID]_20301574[PMID]","terms":[{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000531","label":"Corneal crystals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003126","label":"Low-molecular-weight proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000114","label":"Proximal tubulopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012598","label":"Abnormal urine potassium concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010639","label":"Elevated alkaline phosphatase of bone origin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032639","label":"Elevated leukocyte cystine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003537","label":"Hypouricemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}