{"orpha":411629,"name":"Infantile nephropathic cystinosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411629/","orphanet_url":"https://www.orpha.net/en/disease/detail/411629","names":{"fr":{"name":"Cystinose néphropathique infantile","definition":"Forme de cystinose caractérisée par une accumulation de cystine dans les organes et les tissus, notamment dans les reins et les yeux, qui se manifeste cliniquement dès la petite enfance par un syndrome de Fanconi rénal, une photophobie, une hypothyroïdie, un retard de croissance et un rachitisme, en plus de divers autres effets systémiques. Les manifestations extra-rénales progressives comprennent hypothyroïdie, hypogonadisme, stérilité masculine, diabète insulinodépendant, hépatosplénomégalie avec hypertension portale, atteinte musculaire avec faiblesse et atrophie des muscles distaux, dysfonctionnement pharyngé et oral, troubles de la déglutition, atteinte cérébrale avec hypotonie, difficultés d'élocution, troubles de la marche et syndrome cérébelleux."},"de":{"name":"Infantile nephropathische Cystinose","definition":"Ein Subtyp der Cystinose, die durch eine Anhäufung von Cystin in Organen und Geweben, insbesondere in Nieren und Augen, gekennzeichnet ist und sich klinisch bereits im Säuglingsalter mit renalem Fanconi-Syndrom, Photophobie, Hypothyreose, Wachstumsstörungen und Rachitis sowie verschiedenen anderen systemischen Auswirkungen manifestiert. Zu den fortschreitenden Manifestationen außerhalb der Nieren gehören Hypothyreose, Hypogonadismus und männliche Infertilität, insulinabhängiger Diabetes, Hepatosplenomegalie mit portaler Hypertension, Muskelbeteiligung mit distaler Muskelschwäche und Atrophie, pharyngeale und orale Dysfunktion, Schluckstörungen, zerebrale Beteiligung mit Hypotonie, Sprach- und Gangstörungen und Kleinhirnsyndrom."},"es":{"name":"Cistinosis nefropática infantil","definition":"Es un subtipo de cistinosis caracterizado por el acúmulo de cistina en órganos y tejidos, especialmente en los riñones y los ojos, y que clínicamente se manifiesta a partir de los primeros meses de vida con síndrome de Fanconi renal, fotofobia, hipotiroidismo, retraso del crecimiento y raquitismo, además de otros múltiples efectos sistémicos. Las manifestaciones extrarrenales progresivas incluyen hipotiroidismo, hipogonadismo e infertilidad masculina, diabetes insulinodependiente, hepatoesplenomegalia con hipertensión portal, afectación muscular con debilidad y atrofia de los músculos distales, disfunción faríngea y oral, alteraciones en la deglución , afectación cerebral con hipotonía, dificultades para hablar y caminar, y síndrome cerebeloso."},"it":{"name":"Cistinosi nefropatica infantile","definition":"La cistinosi nefropatica infantile è la forma più comune e grave di 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":"Infantiele nefropathische cystinose","definition":"Een subtype van cystinose, gekarakteriseerd door accumulatie van cystine in organen en weefsels, vooral in nier en oog, en zich klinisch manifesterend vanaf de zuigelingentijd met renaal syndroom van Fanconi, fotofobie, hypothyreoïdie, verstoorde groei en rachitis, naast verschillende andere systemische effecten. Progressieve extrarenale manifestaties zijn onder meer hypothyreoïdie, hypogonadisme en mannelijke infertiliteit, insuline-afhankelijke diabetes, hepatosplenomegalie met portale hypertensie, betrokkenheid van spier met zwakte en atrofie van distale spier, faryngeale en orale disfunctie, moeilijkheden met slikken, cerebrale betrokkenheid met hypotonie, spraak- en loopproblemen, en cerebellair syndroom."},"pt":{"name":"Cistinose nefropática da infância"},"pl":{"name":"Niemowlęca cystynoza nefropatyczna"},"cs":{"name":"Infantilní nefropatická cystinóza"},"uk":{"name":"Інфантильний нефропатичний цистиноз","definition":"A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome."},"zh":{"name":"肾病性婴儿胱氨酸贮积症","definition":"婴儿型肾病性胱氨酸病是最常见和最严重的胱氨酸病（见本术语），一种代谢性疾病，其特征是胱氨酸在溶酶体内积累，导致不同器官和组织（尤其是肾脏和眼睛）受损。"},"tr":{"name":"Nefropatik infantil sistinoz"}},"xrefs":[{"source":"OMIM","code":"219800","qualifier":"NTBT","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":"373867337"},{"source":"MONDO","code":"0018467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565655","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3537440","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":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_12110740[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-05","source":"25165189[PMID]_21980659[PMID]_18075494[PMID]","terms":[{"hpo":"HP:0003111","label":"Abnormal blood ion concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100511","label":"Abnormality of vitamin D metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000531","label":"Corneal crystals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004918","label":"Hyperchloremic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","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:0003126","label":"Low-molecular-weight proteinuria","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: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:0002748","label":"Rickets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001969","label":"Tubulointerstitial abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null}]}}