{"orpha":437,"name":"Hypophosphatemic rickets","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-437/","orphanet_url":"https://www.orpha.net/en/disease/detail/437","names":{"fr":{"name":"Rachitisme hypophosphatémique","definition":"Groupe de maladies génétiques avec déperdition rénale de phosphate, caractérisées par une hypophosphatémie, un rachitisme et des taux sériques normaux de calcium. Les signes cliniques caractéristiques sont un retard de croissance/petite taille, des douleurs et des déformations osseuses."},"de":{"name":"Hypophosphatämische Rachitis","definition":"Eine Gruppe genetisch bedingter Störungen mit renalem Phosphatverlust, die durch Hypophosphatämie, Rachitis und normale Kalziumwerte im Serum gekennzeichnet sind. Zu den charakteristischen klinischen Merkmalen gehören langsames Wachstum/Kleinwuchs, Knochenschmerzen und Fehlbildungen der Knochen."},"es":{"name":"Raquitismo hipofosfatémico","definition":"Es un grupo de trastornos genéticos de pérdida de fosfato renal caracterizados por hipofosfatemia, raquitismo y niveles séricos normales de calcio. Los rasgos clínicos característicos incluyen crecimiento lento/ talla baja, dolor de huesos y deformidades óseas."},"it":{"name":"Rachitismo ipofosfatemico","definition":"Il rachitismo ipofosfatemico comprende un gruppo di malattie genetiche caratterizzate da ipofosfatemia, rachitismo e livelli normali di calcio nel siero."},"nl":{"name":"Hypofosfatemische rachitis","definition":"Een groep van genetische aandoeningen van nier met fosfaatverlies, gekenmerkt door hypofosfatemie, rachitis, en normale gehaltes van calcium in serum. Typische klinische kenmerken zijn trage groei/kleine gestalte, botpijn en botmisvormingen."},"pt":{"name":"Raquitismo hipofostatémico","synonyms":["Raquitismo resistente à vitamina D"],"definition":"Grupo de doenças genéticas de perda renal de fosfato, caracterizado por hipofosfatemia, raquitismo e níveis séricos normais de cálcio. As características clínicas incluem crescimento lento/baixa estatura, dor óssea e deformidades ósseas."},"pl":{"name":"Krzywica hipofosfatemiczna","definition":"Grupa genetycznie uwarunkowanych schorzeń nerek z utratą fosforanów, które charakteryzują się hipofosfatemią, krzywicą i prawidłowym poziomem wapnia w surowicy. Charakterystyczne cechy kliniczne to spowolnienie wzrastania/niski wzrost, bóle kostne i deformacje kości."},"cs":{"name":"Hypofosfatemická rachitida","synonyms":["Hypofosfatemická vitamin D-rezistentní rachitida","Familiární hypofosfatemická rachitida","X-vázaná recesivní hypofosfatemická rachitis","X-vázaná hypofosfatemická křivice"]},"uk":{"name":"Гіпофосфатемічний рахіт","definition":"A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities."},"zh":{"name":"低磷性佝偻病"},"tr":{"name":"Hipofosfatemik raşitizm"}},"xrefs":[{"source":"ICD-11","code":"5C63.22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1010293846"},{"source":"MONDO","code":"0000044","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"44","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D063730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1704375","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6735","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":289098,"name":"Disorders of vitamin D metabolism","classifications":[147,156,193,199]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[{"orpha":89937,"name":"Autosomal dominant hypophosphatemic rickets","type":"Disease"},{"orpha":289176,"name":"Autosomal recessive hypophosphatemic rickets","type":"Disease"},{"orpha":213,"name":"Cystinosis","type":"Disease"},{"orpha":1652,"name":"Dent disease","type":"Disease"},{"orpha":244305,"name":"Dominant hypophosphatemia with nephrolithiasis or osteoporosis","type":"Disease"},{"orpha":157215,"name":"Hereditary hypophosphatemic rickets with hypercalciuria","type":"Disease"},{"orpha":89936,"name":"X-linked hypophosphatemia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}