{"orpha":289157,"name":"Hypocalcemic vitamin D-dependent rickets","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["1-alpha-hydroxylase deficiency","PDDRI","Pseudovitamin D-deficient rickets","VDDI","VDDR-I","Vitamin D dependent rickets type I","Vitamin D-dependency type I"],"definition":"A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289157/","orphanet_url":"https://www.orpha.net/en/disease/detail/289157","names":{"fr":{"name":"Rachitisme hypocalcémique vitamine D-dépendant","synonyms":["Déficit en 1-alpha-hydrolase","Dépendance en vitamine D de type I","PDDRI","Rachitisme d'insuffisance en pseudo-vitamine D","Rachitisme de carence en pseudo-vitamine D","Rachitisme hypocalcémique dépendant de la vitamine D","Rachitisme vitamine D-dépendant de type I","VDDI","VDDR-I"],"definition":"Trouble rare du métabolisme de la vitamine D, d'origine génétique, caractérisé par une hypocalcémie sévère à l'origine d'une ostéomalacie et de déformations rachitiques du squelette, ainsi que d'une hypophosphatémie modérée."},"de":{"name":"Rachitis, hypokalzämische, Vitamin D-abhängige","synonyms":["1-alpha-Hydroxylase-Mangel","PDDRI","Pseudo-Vitamin-D-Mangel-Rachitis","VDDI","VDDR-I","Vitamin-D-Mangel-Rachitis Typ I"],"definition":"Eine genetisch bedingte Störung des Vitamin-D-Stoffwechsels mit schwerer Hypokalzämie, die zu Osteomalazie und rachitischen Knochenfehlbildungen führt sowie mäßige Hypophosphatämie umfasst."},"es":{"name":"Raquitismo hipocalcémico dependiente de vitamina D","synonyms":["Deficiencia de 1-alfa-hidroxilasa","Dependencia de vitamina D tipo 1","PDDRI","Raquitismo dependiente de vitamina D tipo I","Raquitismo por deficiencia de pseudovitamina D","VDDI","VDDR-I"],"definition":"Es un trastorno poco frecuente del metabolismo de la vitamina D de origen genético caracterizado por hipocalcemia grave que conduce a osteomalacia y deformaciones óseas raquíticas, e hipofosfatemia moderada."},"it":{"name":"Rachitismo ipocalcemico dipendente dalla vitamina D","synonyms":["Rachitismo con deficit della pseudovitamina D","Rachitismo dipendente dalla vitamina D, tipo I","VDDI","VDDR-I","Deficit di 1-alfa-idrossilasi","Dipendenza dalla vitamina D, tipo I","PDDRI"],"definition":"Il rachitismo ipocalcemico dipendente dalla vitamina D (VDDR-I) è un difetto ereditario del metabolismo della vitamina D ad esordio precoce, caratterizzato da grave ipocalcemia che provoca osteomalacia e deformazioni scheletriche da rachitismo e da ipofosfatemia moderata."},"nl":{"name":"Hypocalciëmische vitamine D-afhankelijke rachitis","synonyms":["1-alfa-hydroxylasedeficiëntie","PDDRI","Pseudovitamine D-deficiënte rachitis","VDDI","VDDR-I","Vitamine D-afhankelijke rachitis type I","Vitamine D-afhankelijkheid type I"],"definition":"Een zeldzame, genetische stoornis van metabolisme van vitamine D, gekenmerkt door ernstige hypocalciëmie die leidt tot osteomalacie en rachitische botdeformiteit, en matige hypofosfatemie."},"pt":{"name":"Raquitismo hipocalcémico vitamina D-dependente","synonyms":["Deficiência de 1-alfa-hidroxilase","Dependência de vitamina D, tipo I","PDDRI","Raquitismo dependente de vitamina D, tipo I","Raquitismo por deficiência de pseudovitamina D","VDDI","VDDR-I"],"definition":"Doença genética rara do metabolismo da vitamina D caracterizada por hipocalcemia grave, que origina osteomalácia, deformidades ósseas raquíticas e hipofosfatemia moderada."},"pl":{"name":"Hipokalcemiczna krzywica zależna od witaminy D","synonyms":["Krzywica zależna od witaminy D typu I","Niedobór 1-alfa-hydroksylazy","PDDRI","Pseudovitamin D-deficient rickets","VDDI","VDDR-I","Vitamin D-dependency type I"],"definition":"Rzadkie, genetycznie uwarunkowane zaburzenie metabolizmu witaminy D, charakteryzujące się ciężką hipokalcemią prowadzącą do osteomalacji i krzywiczych deformacji kości oraz umiarkowanej hipofosfatemii."},"cs":{"name":"Hypokalcemická vitamin D-dependentní křivice","synonyms":["Deficit 1-alfahydroxylázy","PDDRI","VDDI","VDDR-I","Vitamin D-dependence, typ I","Pseudovitamin D deficientní křivice","Vitamin D dependentní křivice, typ I"]},"uk":{"name":"Гіпокальціємічний вітамін D-залежний рахіт","synonyms":["Дефіцит 1-альфа-гідроксилази","PDDRI","Псевдовітамін D-дефіцитний рахіт","VDDI","VDDR-I","Вітамін D-залежний рахіт I типу","Залежність від вітаміну D, тип I"],"definition":"A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia."},"zh":{"name":"低钙维生素D依赖型佝偻病","synonyms":["I型维生素D依赖性佝偻病"],"definition":"维生素D依赖性佝偻病（VDDR-I）是一种早发的遗传性维生素D代谢紊乱，其特征是严重的低钙血症导致软骨病和佝偻病性骨变形，以及中度低磷血症。"},"tr":{"name":"Hipokalsemik D vitamini bağlı raşitizm","synonyms":["VDDI","PDDRI","VDDR-I","D vitamini-bağımlılığı tip I","1-alfa-hidroksilaz eksikliği","Psödovitamin D-eksikliği olan raşitizm","D vitamini bağımlı raşitizm tip I"]}},"xrefs":[{"source":"OMIM","code":"264700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600081","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1270705227"},{"source":"MONDO","code":"0009924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268689","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":289103,"name":"Hypocalcemic rickets","classifications":[147,156,193,199]}],"children":[],"genes":[{"symbol":"CYP27B1","name":"cytochrome P450 family 27 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2606","ensembl":"ENSG00000111012","omim":"609506","loci":["12q14.1"]},{"symbol":"CYP2R1","name":"cytochrome P450 family 2 subfamily R member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20580","ensembl":"ENSG00000186104","omim":"608713","loci":["11p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-13","source":"8201479[PMID]_15128933[PMID]_4309963[PMID]_4357855[PMID]_9837822[PMID]_9295274[PMID]_30086869[PMID]","terms":[{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012052","label":"Low serum calcitriol","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002748","label":"Rickets","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000886","label":"Deformed rib cage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","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:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003029","label":"Enlargement of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000920","label":"Enlargement of the costochondral junction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003020","label":"Enlargement of the wrists","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002909","label":"Generalized aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005042","label":"Irregular, rachitic-like metaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000897","label":"Rachitic rosary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000867","label":"Secondary hyperparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002752","label":"Sparse bone trabeculae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003106","label":"Subperiosteal bone resorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001281","label":"Tetany","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010537","label":"Wide cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001931","label":"Hypochromic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}