{"orpha":157215,"name":"Hereditary hypophosphatemic rickets with hypercalciuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HHRH"],"definition":"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157215/","orphanet_url":"https://www.orpha.net/en/disease/detail/157215","names":{"fr":{"name":"Rachitisme hypophosphatémique héréditaire avec hypercalciurie","synonyms":["HHRH"],"definition":"Maladie héréditaire rare de perte de phosphate rénal caractérisée par une hypophosphatémie et une hypercalciurie associées à un rachitisme et/ou une ostéomalacie. Parmi les autres caractéristiques figurent une croissance lente, une petite taille, des déformations squelettiques, une faiblesse musculaire et des douleurs osseuses associées à des taux de calcitriol plasmatique normaux ou élevés et à une hyperphosphaturie."},"de":{"name":"Rachitis, hypophosphatämische, mit Hyperkalziurie","synonyms":["HHRH"],"definition":"Eine seltene hereditäre Störung mit renalem Phosphatverlust, die durch Hypophosphatämie und Hyperkalziurie in Verbindung mit Rachitis und/oder Osteomalazie gekennzeichnet ist. Weitere Merkmale sind langsames Wachstum, Kleinwuchs, Fehlbildungen des Skeletts, Muskelschwäche und Knochenschmerzen, die mit normalen oder erhöhten Plasmaspiegeln von Calcitriol und Hyperphosphaturie einhergehen."},"es":{"name":"Raquitismo hipofosfatémico hereditario con hipercalciuria","synonyms":["HHRH"],"definition":"Es un trastorno hereditario poco frecuente de pérdida renal de fosfato caracterizada por hipofosfatemia e hipercalciuria asociadas a raquitismo y/o osteomalacia. Otras características descritas son: crecimiento lento, talla baja, deformidades esqueléticas, debilidad muscular y dolor óseo que se asocian con niveles plasmáticos normales o elevados de calcitriol e hiperfosfaturia."},"it":{"name":"Rachitismo ipofosfatemico ereditario con ipercalciuria","synonyms":["HHRH"]},"nl":{"name":"Erfelijke hypofosfatemische rachitis met hypercalciurie","synonyms":["HHRH"],"definition":"Een zeldzame, erfelijke aandoening van nier met fosfaatverlies, gekenmerkt door hypofosfatemie en hypercalciurie geassocieerde met rachitis en/of osteomalacie. Overige kenmerken zijn onder meer trage groei, kleine gestalte, skeletmisvormingen, spierzwakte en botpijn die geassocieerd zijn met normale of verhoogde gehaltes van calcitriol in plasma en hyperfosfaturie."},"pt":{"name":"Raquitismo hipofosfatémico com hipercalciúria","definition":"Doença hereditária rara com perda renal de fosfato caracterizada por hipofosfatemia e hipercalciúria associada a raquitismo e/ou osteomalácia. Outras características incluem uma diminuição da velocidade de crescimento, baixa estatura, deformidades esqueléticas, fraqueza muscular e dor óssea que surgem associadas a níveis plasmáticos normais ou elevados de calcitriol e hiperfosfatúria."},"pl":{"name":"Dziedziczna krzywica hipofosfatemiczna z hiperkalciurią","synonyms":["HHRH"],"definition":"Rzadkie dziedziczne zaburzenie, polegające na utracie fosforanów w nerkach i charakteryzujące się hipofosfatemią i hiperkalciurią, związane z krzywicą i/lub osteomalacją. Inne cechy obejmują powolny wzrost, niski wzrost, deformacje szkieletu, osłabienie mięśni i bóle kostne, które są związane z prawidłowym lub podwyższonym poziomem kalcytriolu w osoczu i hiperfosfaturią."},"cs":{"name":"Hereditární hypofosfatemická křivice s hyperkalciurií","synonyms":["HHRH"]},"uk":{"name":"Спадковий гіпофосфатемічний рахіт з гіперкальціурією","synonyms":["HHRH"],"definition":"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia."},"zh":{"name":"伴尿钙过多的遗传性低血磷性佝偻病","synonyms":["HHRH"],"definition":"遗传性低磷酸盐血症性佝偻病伴高钙尿症（HHRH）是一种遗传性肾性磷酸盐消耗性疾病，其特征是与佝偻病和/或骨软化症相关的低磷血症和高钙尿症。"},"tr":{"name":"Hiperkalsiürili kalıtsal hipofosfatemik raşitizm","synonyms":["HHRH"]}},"xrefs":[{"source":"OMIM","code":"241530","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1052311971"},{"source":"MONDO","code":"0009431","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":437,"name":"Hypophosphatemic rickets","classifications":[147,156,188,193,199]}],"children":[],"genes":[{"symbol":"SLC34A3","name":"solute carrier family 34 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16358215[PMID]","hgnc":"20305","ensembl":"ENSG00000198569","omim":"609826","loci":["9q34.3"]},{"symbol":"SLC34A1","name":"solute carrier family 34 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32311027[PMID]","hgnc":"11019","ensembl":"ENSG00000131183","omim":"182309","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-04","source":"23108197[PMID]_30109410[PMID]_30454743[PMID]","terms":[{"hpo":"HP:0031817","label":"Decreased circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010639","label":"Elevated alkaline phosphatase of bone origin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031415","label":"High serum calcitriol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031425","label":"Increased circulating beta-C-terminal telopeptide level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031428","label":"Increased circulating osteocalcin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012408","label":"Medullary 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:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000897","label":"Rachitic rosary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}