{"orpha":89936,"name":"X-linked hypophosphatemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked hypophosphatemic rickets","XLH"],"definition":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89936/","orphanet_url":"https://www.orpha.net/en/disease/detail/89936","names":{"fr":{"name":"Hypophosphatémie liée à l'X","synonyms":["Rachitisme hypophosphatémique lié à l'X","XLH"],"definition":"Maladie héréditaire rare avec déperdition rénale de phosphate caractérisée par une hypophosphatémie, un rachitisme et/ou une ostéomalacie et un retard de croissance."},"de":{"name":"Hypophosphatämie, X-chromosomale","synonyms":["Rachitis, hypophosphatämische, X-chromosomale","XLH"],"definition":"Eine seltene hereditäre Störung, die durch renalen Phosphatverlust mit Hypophosphatämie, Rachitis und/oder Osteomalazie und Wachstumsretardierung gekennzeichnet ist."},"es":{"name":"Hipofosfatemia ligada al cromosoma X","synonyms":["Raquitismo hipofosfatémico ligado al cromosoma X","XLH"],"definition":"Es un trastorno renal hereditario poco frecuente de pérdida urinaria de fosfato caracterizado por hipofosfatemia, raquitismo y/u osteomalacia, así como por disminución del crecimiento."},"it":{"name":"Ipofosfatemia legata all'X","synonyms":["Rachitismo ipofosfatemico legato all'X","XLH"]},"nl":{"name":"X-gebonden hypofosfatemie","synonyms":["X-gebonden hypofosfatemische rachitis","XLH"],"definition":"Een zeldzame erfelijke aandoening van nier met fosfaatverlies, gekenmerkt door hypofosfatemie, rachitis en/of osteomalacie en verminderde groei."},"pt":{"name":"Hipofosfatemia ligada ao X","definition":"Doença renal hereditária rara com perda de fosfato caracterizada por hipofosfatemia, raquitismo e/ou osteomalácia e atraso de crescimento."},"pl":{"name":"Hipofosfatemia sprzężona z chromosomem X","synonyms":["Krzywica hipofosfatemiczna sprzężona z chromosomem X","XLH"],"definition":"Rzadka dziedziczna choroba związana z nerkową utratą fosforanów, charakteryzująca się występowaniem hipofosfatemii, krzywicy i/lub osteomalacji oraz spowolnieniem wzrastania/niskim wzrostem."},"cs":{"name":"X-vázaná hypofosfatémie","synonyms":["XLH","X-vázaná hypofosfatemická rachitida/křivice"]},"uk":{"name":"Х-зчеплена гіпофосфатемія","synonyms":["XLH","Х-зчеплений гіпофосфатемічний рахіт"],"definition":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."},"zh":{"name":"X-连锁低磷血症","synonyms":["X-连锁低磷性佝偻病"]},"tr":{"name":"X'e bağlı hipofosfatemi","synonyms":["XLH","X'e bağlı hipofosfatemik raşitizm"]}},"xrefs":[{"source":"OMIM","code":"307800","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":"1670813530"},{"source":"MONDO","code":"0010619","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10619","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3540852","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12943","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":"PHEX","name":"phosphate regulating endopeptidase X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22319799[PMID]","hgnc":"8918","ensembl":"ENSG00000102174","omim":"300550","loci":["Xp22.11"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.89,"area":"Norway","status":"Validated","source":"26543054[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.54,"area":"United Kingdom","status":"Validated","source":"31730177[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Worldwide","status":"Validated","source":"34009447[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.14,"area":"Worldwide","status":"Validated","source":"34009447[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.66,"area":"Europe","status":"Validated","source":"26543054[PMID]_31730177[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-23","source":"30928313[PMID]_22319799[PMID]_39181153[PMID]","terms":[{"hpo":"HP:0006490","label":"Abnormality of lower-limb metaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003127","label":"Hypocalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010299","label":"Abnormality of dentin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008144","label":"Flattening of the talar dome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000694","label":"Odontodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000897","label":"Rachitic rosary","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008117","label":"Shortening of the talar neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003856","label":"Upper limb metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000407","label":"Elevated circulating fibroblast growth factor 23 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000920","label":"Enlargement of the costochondral junction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100686","label":"Enthesitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002869","label":"Flared iliac wings","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006640","label":"Multiple ribs fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012449","label":"Sacroiliac joint synovitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000867","label":"Secondary hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025369","label":"Thick growth plates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006432","label":"Trapezoidal distal femoral condyles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008442","label":"Vertebral hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}