{"orpha":289176,"name":"Autosomal recessive hypophosphatemic rickets","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARHR"],"definition":"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289176/","orphanet_url":"https://www.orpha.net/en/disease/detail/289176","names":{"fr":{"name":"Rachitisme hypophosphatémique autosomique récessif","synonyms":["ARHR","Hypophosphatémie autosomique récessive"],"definition":"Fuite rénale rare de phosphate, autosomique récessive, caractérisée par une hypophosphatémie à début infantile, qui se manifeste sur le plan clinique par un rachitisme et/ou une ostéomalacie, une croissance lente/petite taille, des douleurs osseuses et des malformations squelettiques. Parmi les autres signes figurent fatigue, faiblesse musculaire et fractures osseuses à répétition."},"de":{"name":"Rachitis, hypophosphatämische, autosomal-rezessive","synonyms":["ARHR"],"definition":"Eine autosomal-rezessiv vererbte renale Phosphatverluststörung, die durch eine Hypophosphatämie im Kindesalter gekennzeichnet ist und sich klinisch durch Rachitis und/oder Osteomalazie, Minderwuchs, Knochenschmerzen und Skelettdeformitäten äußert. Weitere Symptome können Müdigkeit, Muskelschwäche und wiederholte Knochenbrüche sein."},"es":{"name":"Raquitismo hipofosfatémico autosómico recesivo","synonyms":["ARHR"],"definition":"Es un trastorno poco frecuente de pérdida de fosfato renal autosómico recesivo caracterizado por hipofosfatemia de inicio en la infancia que se manifiesta clínicamente con raquitismo y/o osteomalacia, crecimiento lento/ talla baja, dolor óseo y deformidades esqueléticas. Otros hallazgos pueden ser cansancio, debilidad muscular y fracturas óseas repetidas."},"it":{"name":"Rachitismo ipofosfatemico autosomico recessivo","synonyms":["ARHR"],"definition":"Il rachitismo ipofosfatemico autosomico recessivo (ARHR) è un malattia ereditaria con perdita di fosfati attraverso il rene, caratterizzata da ipofosfatemia, rachitismo e/od osteomalacia e ritardo della crescita."},"nl":{"name":"Autosomaal recessieve hypofosfatemische rachitis","synonyms":["ARHR"],"definition":"Een zeldzame autosomaal recessieve aandoening van nier met fosfaatverlies, gekenmerkt door in de kindertijd optredende hypofosfatemie die zich klinisch manifesteert met rachitis en/of osteomalacie, trage groei/kleine gestalte, botpijn en deformiteiten van skelet. Mogelijke bijkomende bevindingen zijn onder meer vermoeidheid, spierzwakte en herhaaldelijke botfracturen."},"pt":{"name":"Raquitismo hipofosfatémico autossómico recessivo","synonyms":["ARHR"],"definition":"Doença renal autossómica recessiva rara, de perda de fosfato, caracterizada por hipofosfatemia de início na infância manifestando-se clinicamente com raquitismo e/ou osteomalácia, crescimento lento/baixa estatura, dor óssea e deformidades esqueléticas. Achados adicionais podem incluir fadiga, fraqueza muscular e fraturas ósseas repetidas."},"pl":{"name":"Autosomalna recesywna krzywica hipofosfatemiczna","synonyms":["ARHR"],"definition":"Rzadkie, autosomalne recesywne schorzenie dotyczące nerek i związane z utratą fosforanów, które charakteryzuje się hipofosfatemią o początku w i objawia się krzywicą i/lub osteomalacją, spowolnieniem wzrastania/niskim wzrostem, bólami kostnymi i deformacjami szkieletu. Dodatkowe obserwowano męczliwość, osłabienie mięśni i powtarzające się złamania kości."},"cs":{"name":"Autozomálně recesivní hypofosfatemická křivice","synonyms":["ARHR"]},"uk":{"name":"Аутосомно-рецесивний гіпофосфатемічний рахіт","synonyms":["ARHR"],"definition":"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures."},"zh":{"name":"常染色体隐性遗传性低磷性佝偻病","synonyms":["ARHR"],"definition":"一种罕见的遗传性肾源性磷酸盐流失，以低磷血症、佝偻病和/或软骨病和生长缓慢为特征。"},"tr":{"name":"Otozomal resesif hipofosfatemik raşitizm","synonyms":["ARHR"]}},"xrefs":[{"source":"OMIM","code":"241520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613312","qualifier":"BTNT","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":"2054303530"},{"source":"MONDO","code":"0017324","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077943","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":"DMP1","name":"dentin matrix acidic phosphoprotein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2932","ensembl":"ENSG00000152592","omim":"600980","loci":["4q22.1"]},{"symbol":"ENPP1","name":"ectonucleotide pyrophosphatase/phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3356","ensembl":"ENSG00000197594","omim":"173335","loci":["6q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-15","source":"894124[PMID]_308618[PMID]_17033621[PMID]_17033625[PMID]_180907[PMID]","terms":[{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100671","label":"Abnormal trabecular bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011036","label":"Abnormality of renal excretion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","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:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005096","label":"Distal femoral bowing","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:0003020","label":"Enlargement of the wrists","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012052","label":"Low serum calcitriol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005764","label":"Polyarticular arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008732","label":"Renal hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006463","label":"Rickets of the lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004576","label":"Sclerotic vertebral endplates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100781","label":"Abnormality of the sacroiliac joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100686","label":"Enthesitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100036","label":"Pseudo-fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}