{"orpha":53,"name":"Albers-Schönberg osteopetrosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Osteopetrosis autosomal dominant type 2"],"definition":"A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53/","orphanet_url":"https://www.orpha.net/en/disease/detail/53","names":{"fr":{"name":"Ostéopétrose d'Albers-Schönberg","synonyms":["Ostéopétrose autosomique dominante type 2"],"definition":"L'ostéopétrose d'Albers-Schönberg est maladie osseuse sclérosante du squelette caractérisée par une condensation squelettique anormale qui se révèle par l'aspect radiologique classique de « vertèbre sandwich » (bandes de scléroses denses parallèles aux plateaux vertébraux)."},"de":{"name":"Osteopetrosis Albers-Schönberg","synonyms":["Albers-Schönberg-Krankheit","Osteopetrose, autosomal-dominante, Typ 2"],"definition":"Die Osteopetrose Albers-Schönberg ist eine sklerosierende Skeletterkrankung und gekennzeichnet durch erhöhte Knochendichte, die im Röntgenbild als das Zeichen der 'Sandwich-Wirbel' (Dichte Bänder von Sklerose parallel zur Wirbelendplatte) erkennbar ist."},"es":{"name":"Osteopetrosis de Albers-Schönberg","definition":"Es un trastorno óseo esclerosante caracterizado por un aumento de la densidad ósea que típicamente muestra el signo radiográfico de ''vértebra en sándwich'' (bandas densas de esclerosis paralelas a los segmentos vertebrales)."},"it":{"name":"Osteopetrosi di Albers-Schönberg","synonyms":["Osteopetrosi autosomica dominante, tipo 2"],"definition":"L'osteopetrosi di Albers-Schonberg è una malattia sclerosante dello scheletro caratterizzata da un aumento della densità ossea, rappresentato tipicamente dal segno radiografico delle \"vertebre a sandwich\" (sclerosi di corpi addensati paralleli ai piatti vertebrali)."},"nl":{"name":"Osteopetrose van Albers-Schönberg","synonyms":["Autosomaal dominante osteopetrose type 2"],"definition":"Een scleroserende aandoening van skelet, gekarakteriseerd door verhoogde botdensiteit die doorgaans het radiografisch teken van ''sandwich-wervels'' (dense banden met sclerose parallel aan eindplaten van wervels) vertoont."},"pt":{"name":"Osteopetrose Albers-Schönberg","synonyms":["Doença de Albers-Schönberg","Osteopetrose autossómica dominante tipo 2"]},"pl":{"name":"Choroba Albersa i Schönberga","synonyms":["Autosomalna dominująca osteopetroza typu 2"]},"cs":{"name":"Albersova-Schönbergova osteopetróza","synonyms":["Albers-Schönbergova nemoc","Osteopetróza, pozdní forma","Osteopetróza, benigní forma","Osteopetróza, autozomálně dominantní, typ 2","Albers-Schönbergova osteopetróza"]},"uk":{"name":"Остеопетроз Альберса-Шенберга","synonyms":["Остеопетроз аутосомно-домінантний тип 2"],"definition":"A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)."},"zh":{"name":"骨硬化症","synonyms":["常染色体显性遗传骨硬化症2型"]},"tr":{"name":"Albers-Schönberg osteopetrozu","synonyms":["Osteopetroz otozomal dominant tip 2"]}},"xrefs":[{"source":"OMIM","code":"166600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2139982581"},{"source":"MONDO","code":"0008156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3179239","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"383","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":519337,"name":"Disorder with optic nerve compression","classifications":[156,189]},{"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":"11741829[PMID]_20301306[PMID]","hgnc":"2025","ensembl":"ENSG00000103249","omim":"602727","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"20301306[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Denmark","status":"Validated","source":"3829443[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Brazil","status":"Validated","source":"14496532[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-23","source":"32491461[PMID]_20301306[PMID]","terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007626","label":"Mandibular osteomyelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001881","label":"Abnormal leukocyte morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012145","label":"Abnormality of multiple cell lineages in the bone marrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005746","label":"Osteosclerosis of the base of the skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}