{"orpha":213,"name":"Cystinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Protein defect of cystin transport"],"definition":"A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-213/","orphanet_url":"https://www.orpha.net/en/disease/detail/213","names":{"fr":{"name":"Cystinose","synonyms":["Déficit en transporteur de la cystine"],"definition":"Maladie lysosomale rare caractérisée par une accumulation de cystine dans les lysosomes, provoquant des lésions dans différents organes et tissus, notamment dans les reins et les yeux. Trois formes cliniques ont été décrites : néphropatique infantile, néphropatique juvénile et oculaire."},"de":{"name":"Cystinose","synonyms":["Zystinose"],"definition":"Eine lysosomale Erkrankung, die durch eine Anhäufung von Cystin in den Lysosomen gekennzeichnet ist und Schäden in verschiedenen Organen und Geweben verursacht, insbesondere in den Nieren und Augen. Es wurden drei klinische Formen beschrieben: die infantile nephropathische, die jvenile nephropathische und die okuläre Cystinose."},"es":{"name":"Cistinosis","synonyms":["Deficiencia de transportador de cistina"],"definition":"Es una enfermedad lisosomal poco frecuente caracterizada por el acúmulo intralisosomal de cistina, provocando daños en diferentes órganos y tejidos, particularmente en los riñones y los ojos. Se han descrito tres formas clínicas de la enfermedad: nefropatía de inicio en la lactancia, nefropatía juvenil y ocular."},"it":{"name":"Cistinosi","synonyms":["Deficit del trasportatore della cistina"],"definition":"Si tratta di una malattia lisosomiale rara, caratterizzata dall'accumulo di cistina nei lisosomi, che danneggia diversi organi e tessuti, in particolare i reni e gli occhi. Sono state descritte tre forme cliniche di cistinosi: nefropatica infantile, nefropatica giovanile e oculare."},"nl":{"name":"Cystinose","synonyms":["Eiwitdefect van cystinetransport"],"definition":"Een zeldzame lysosomale ziekte, gekarakteriseerd door accumulatie van cystine in lysosomen, wat schade veroorzaakt aan verschillende organen en weefsels, vooral nieren en ogen. Er werden drie klinische vormen beschreven: nefropathische infantiele, nefropathische juveniele, en oculaire vorm."},"pt":{"name":"Cistinose","synonyms":["Defeito proteico no transporte de cistina"],"definition":"Doença lisossomal rara, caracterizada pela acumulação de cistina no interior dos lisossomas, provocando danos em diferentes órgãos e tecidos, particularmente nos rins e nos olhos. Estão descritas três formas clínicas: nefropática infantil, nefropática juvenil e ocular."},"pl":{"name":"Cystynoza","synonyms":["Białkowy defekt transportu cystyny"]},"cs":{"name":"Cystinóza","synonyms":["Porucha transportu cystinu způsobená poruchou membránového proteinu"]},"uk":{"name":"Цистиноз","synonyms":["Дефект білка транспорту цистину"],"definition":"A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular."},"zh":{"name":"胱氨酸贮积症","synonyms":["胱氨酸转运蛋白缺陷症"]},"tr":{"name":"Sistinoz","synonyms":["Sistin taşınmasının protein defekti"]}},"xrefs":[{"source":"OMIM","code":"219800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"219900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C60.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"733715856"},{"source":"MONDO","code":"0016239","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003554","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4316899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6236","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011777","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79207,"name":"Disorder of lysosomal amino acid transport","classifications":[150,156]},{"orpha":437,"name":"Hypophosphatemic rickets","classifications":[147,156,188,193,199]}],"children":[{"orpha":411629,"name":"Infantile nephropathic cystinosis","type":"Clinical subtype"},{"orpha":411634,"name":"Juvenile nephropathic cystinosis","type":"Clinical subtype"},{"orpha":411641,"name":"Ocular cystinosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":411629,"name":"Infantile nephropathic cystinosis"}},{"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"],"via":{"orpha":411634,"name":"Juvenile nephropathic cystinosis"}},{"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"],"via":{"orpha":411641,"name":"Ocular cystinosis"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Worldwide","status":"Validated","source":"12110740[PMID]_18008091[PMID]_11562417[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"France","status":"Validated","source":"1018302[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.59,"area":"Germany","status":"Validated","source":"3921756[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"United Kingdom","status":"Validated","source":"9610798[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.52,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Specific population","status":"Validated","source":"1937486[PMID]_25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.87,"area":"Denmark","status":"Validated","source":"975942[PMID]_27102039[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Sweden","status":"Validated","source":"25274184[PMID]_27102039[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-17","source":"27102039[PMID]_20301574[PMID]","terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009806","label":"Nephrogenic diabetes insipidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012072","label":"Aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000585","label":"Band keratopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012093","label":"Abnormality of endocrine pancreas physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}