{"orpha":210110,"name":"Intermediate osteopetrosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive intermediate osteopetrosis"],"definition":"A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210110/","orphanet_url":"https://www.orpha.net/en/disease/detail/210110","names":{"fr":{"name":"Ostéopétrose intermédiaire","synonyms":["Ostéopétrose intermédiaire autosomique récessive"],"definition":"Dysplasie osseuse primaire condensante rare d'origine génétique caractérisée par une susceptibilité aux fractures après un traumatisme mineur, une anémie et des changements squelettiques caractéristiques visibles en radiographie, tels qu'une « vertèbre sandwich », un aspect d'os dans l'os, une métaphyse fémorale en forme de flacon d'Erlenmeyer et une légère ostéosclérose de la base du crâne. Des anomalies dentaires et des troubles visuels secondaires à la compression du nerf optique ont rarement été décrits."},"de":{"name":"Osteopetrosis, intermediäre","synonyms":["Osteopetrosis, intermediäre, autosomal-rezessive"]},"es":{"name":"Osteopetrosis intermedia","synonyms":["Osteopetrosis intermedia autosómica recesiva"],"definition":"La osteopetrosis intermedia es una displasia ósea primaria genética poco frecuente con incremento de la densidad ósea. Se caracteriza por susceptibilidad a las fracturas a consecuencia de un traumatismo menor, anemia y cambios esqueléticos característicos observados en la radiografía, tales como vértebras ''en sándwich'', con aspecto de hueso dentro del hueso, metáfisis femoral en forma de matraz de Erlenmeyer y leve osteoesclerosis en la base del cráneo. Excepcionalmente, se han descrito anomalías dentales y deterioro visual secundario a la compresión del nervio óptico."},"it":{"name":"Osteopetrosi intermedia","synonyms":["Osteopetrosi intermedia autosomica recessiva"],"definition":"L'osteopetrosi intermedia è una displasia scheletrica primitiva genetica rara, associata ad un aumento della densità ossea, caratterizzata da suscettibilità alle fratture a seguito di piccoli traumi, anemia ed alterazioni scheletriche evidenti alle radiografie (vertebre ''a sandwich'', aspetto dell'''osso dentro l'osso'', metafisi femorali a forma di matraccio di Erlenmeyer, lieve osteosclerosi della base del cranio). Raramente, si associa ad anomalie dei denti e compromissione della vista secondaria alla compressione del nervo ottico."},"nl":{"name":"Intermediaire osteopetrose","synonyms":["Autosomaal recessieve intermediaire osteopetrose"],"definition":"Intermediaire osteopetrose is een zeldzame, genetische primaire botdysplasie met verhoogde botdensiteit, en wordt gekarakteriseerd door susceptibiliteit voor fracturen na klein trauma, anemie, en typische radiografische veranderingen aan het skelet, zoals 'sandwich'-wervels, botten met een uiterlijk waardoor lijkt dat ze een tweede bot bevatten (bot-in-bot vorm), Erlenmeyer-vormige femorale metafysen, en milde osteosclerose van de schedelbasis. Tandanomalieën en functieverlies van het zicht secundair aan compressie van de oogzenuw werden in zeldzame gevallen beschreven."},"pt":{"name":"Osteopetrose intermédia"},"pl":{"name":"Osteopetroza pośrednia","synonyms":["Autosomalna recesywna osteopetroza pośrednia"],"definition":"*Osteopetroza pośrednia jest rzadką, genetycznie uwarunkowaną pierwotną dysplazją kostną, przebiegającą ze zwiększoną gęstością kości. Charakteryzuje się podatnością na złamania po niewielkich nawet urazach, niedokrwistością i charakterystycznymi zmianami radiologicznymi w układzie kostnym, takimi jak kręgi przypominające sandwicza, deformacje kręgów o wyglądzie kości w kości (ang. bone-within-bone), przynasady kości udowych w kształcie kolby Erlenmeyera i łagodna osteoskleroza podstawy czaszki. Rzadko opisywano wady uzębienia i zaburzenia widzenia, spowodowane przez ucisk na nerw wzrokowy."},"cs":{"name":"Osteopetróza, středně závažný typ","synonyms":["Autozomálně recesivní přechodná osteopetróza","Autozomálně recesivní osteopetróza, typ 6"]},"uk":{"name":"Помірно виражений остеопетроз","synonyms":["Аутосомно-рецесивний проміжний остеопетроз"],"definition":"A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described."},"zh":{"name":"中间型骨硬化病","synonyms":["常染色体隐性遗传中间型骨硬化病"],"definition":"中度骨硬化症是一种罕见的遗传性原发性骨发育不良伴骨密度增高，其主要临床表现为轻微创伤后易发生骨折，贫血，其特征性骨骼影像学表现为夹层椎体，骨中骨征象，锥形瓶样股骨干骺端，颅底轻度骨硬化，部分患者出现视神经压迫造成的牙齿异常和视力障碍。"},"tr":{"name":"Orta derecede osteopetroz","synonyms":["Otozomal Çekinik orta düzey osteopetroz"]}},"xrefs":[{"source":"OMIM","code":"611497","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"602779286"},{"source":"MONDO","code":"0012679","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432261","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4156","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[{"symbol":"CLCN7","name":"Cl-/H+ antiporter 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12522560[PMID]_20301306[PMID]","hgnc":"2025","ensembl":"ENSG00000103249","omim":"602727","loci":["16p13.3"]},{"symbol":"PLEKHM1","name":"pleckstrin homology and RUN domain containing M1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17404618[PMID]","hgnc":"29017","ensembl":"ENSG00000225190","omim":"611466","loci":["17q21.31"]},{"symbol":"TCIRG1","name":"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24535816[PMID]_25829125[PMID]","hgnc":"11647","ensembl":"ENSG00000110719","omim":"604592","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"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":"2019-07-02","source":"20301306[PMID]_28975865[PMID]_28819563[PMID]_17404618[PMID]","terms":[{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005652","label":"Cortical sclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004975","label":"Erlenmeyer flask deformity of the femurs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005746","label":"Osteosclerosis of the base of the skull","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004618","label":"Sandwich appearance of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007958","label":"Optic atrophy from cranial nerve compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Excluded (0%)","criteria":null}]}}