{"orpha":178389,"name":"Osteopetrosis-hypogammaglobulinemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia","Autosomal recessive osteopetrosis type 7"],"definition":"Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178389/","orphanet_url":"https://www.orpha.net/en/disease/detail/178389","names":{"fr":{"name":"Syndrome d'ostéopétrose-hypogammaglobulinémie","synonyms":["Ostéopétrose autosomique récessive type 7"],"definition":"Dysplasie osseuse primaire condensante rare caractérisée par une ostéopétrose sévère pauvre en ostéoclastes associée à une hypogammaglobulinémie. Les patients présentent typiquement une ostéopétrose maligne infantile (se manifestant par une densité osseuse accrue, des fractures osseuses, des mouvements oculaires anormaux/perte de vision, un nystagmus), des anomalies hématologiques avec insuffisance médullaire (par exemple anémie, hépatosplénomégalie) et déficit immunitaire (se manifestant par des infections respiratoires récurrentes) associés à des taux d'immunoglobulines réduits en raison d'une altération de la différenciation des lymphocytes B périphériques."},"de":{"name":"Osteopetrose-Hypogammaglobulinämie-Syndrom","synonyms":["Osteopetrose mit Osteoklastenmangel und Hypogammaglobulinämie, autosomal-rezessive Form","Osteopetrose, autosomal-rezessive, Typ 7"]},"es":{"name":"Síndrome de osteopetrosis-hipogammaglobulinemia","synonyms":["Osteopetrosis autosómica recesiva tipo 7","Osteopetrosis pobre en osteoclastos autosómica recesiva con hipogammaglobulinemia"],"definition":"El síndrome de osteopetrosis - hipogammaglobulinemia, es una displasia ósea primaria muy poco frecuente con aumento de la densidad ósea caracterizada por osteopetrosis grave, pobre en osteoclastos, asociada a hipogammaglobulinemia. Los afectados suelen presentar osteopetrosis maligna infantil (que se manifiesta con una mayor densidad ósea, fracturas óseas, movimientos oculares anómalos / déficit visual, nistagmo), anomalías hematológicas con insuficiencia medular (p. ej., anemia, hepatoesplenomegalia) y deficiencia inmunológica (que se manifiesta con infecciones respiratorias recurrentes) asociadas a reducción de los niveles de inmunoglobulina por una deficiente diferenciación de células B periféricas."},"it":{"name":"Sindrome osteopetrosi e ipogammaglobulinemia","definition":"La sindrome che associa l'osteopetrosi e l'ipogammaglobulinemia è una displasia scheletrica primitiva molto rara, associata ad un aumento della densità ossea, caratterizzata da osteopetrosi con grave riduzione degli osteoclasti, associata ad ipogammaglobulinemia. Di solito i pazienti presentano osteopetrosi maligna infantile (che si manifesta con un aumento della densità ossea, fratture ossee, anomalie dei movimenti oculari/perdita della vista, nistagmo), anomalie ematologiche con insufficienza del midollo osseo (ad esempio anemia ed epatosplenomegalia) e deficit immunologici (che si manifestano con infezioni respiratorie ricorrenti), associati ad una riduzione dei livelli delle immunoglobuline secondaria ad una alterazione nella differenziazione dei linfociti B periferici."},"nl":{"name":"Osteopetrose - hypogammaglobulinemie-syndroom","synonyms":["Autosomaal recessieve osteoclastarme osteopetrose met hypogammaglobulinemie","Autosomaal recessieve osteopetrose type 7"],"definition":"Osteopetrose - hypogammaglobulinemie-syndroom is een uiterst zeldzame primaire botdysplasie met verhoogde botdensiteit, en wordt gekarakteriseerd door ernstige osteoclastarme osteopetrose geassocieerd met hypogammaglobulinemie. Patiënten vertonen doorgaans infantiele maligne osteopetrose (die zich manifesteert met verhoogde botdensiteit, botfracturen, abnormale oogbewegingen/functieverlies van het zicht, nystagmus), hematologische afwijkingen met beenmergfalen (e.g. anemie, hepatosplenomegalie) en immuundeficiëntie (die zich manifesteert met recurrente infecties van de ademhalingswegen), geassocieerd met verlaagde gehaltes van immunoglobulinen door verstoorde differentiatie van perifere B-cellen."},"pt":{"name":"Osteopetrose - hipogamaglobulinemia"},"pl":{"name":"Osteopetroza - hipogammaglobulinemia","synonyms":["Autosomalna recesywna osteopetroza typu 7","Autosomalna recesywna uboga w osteoklasty osteopetroza z hipogammaglobulinemią"],"definition":"*Osteopetroza - hipogammaglobulinemia jest niezwykle rzadką pierwotną dysplazją kostną ze zwiększoną gęstością kości, która charakteryzuje się ciężką, ubogą w osteoklasty osteopetrozą, której towarzyszy hipogammaglobulinemia. U chorych typowo stwierdza się niemowlęcą złośliwą osteopetrozę (objawiającą się zwiększoną gęstością kości, złamaniami kości, nieprawidłowymi ruchami gałek ocznych/utratą widzenia, oczopląsem), nieprawidłowości hematologiczne z niewydolnością szpiku kostnego (np. niedokrwistość, powiększenie wątroby i śledziony) oraz niedobór odporności (objawiający się nawracającymi infekcjami dróg oddechowych), związany ze zmniejszonym stężeniem immunoglobulin wskutek upośledzonego różnicowania obwodowych komórek B."},"cs":{"name":"Syndrom zahrnující osteopetrózu a hypogamaglobulinémii","synonyms":["Autozomálně recesivní osteopetróza s nedostatkem osteoklastů s hypogamaglobulinémií","Autozomálně recesivní osteopetróza, typ 7"]},"uk":{"name":"Синдром остеопетрозу-гіпогаммаглобулінемії","synonyms":["Аутосомно-рецесивний остеопетроз з гіпогаммаглобулінемією, бідний на остеокласти","Аутосомно-рецесивний остеопетроз, тип 7"],"definition":"Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation."},"zh":{"name":"骨硬化-低丙种球蛋白综合征","synonyms":["常染色体隐性遗传破骨细胞缺乏性骨硬化症伴低丙种球蛋白血症"],"definition":"骨硬化病-低丙种球蛋白血症综合征是一种极为罕见的原发性骨发育不良伴骨密度增高的疾病，以严重的破骨细胞缺乏性骨硬化症伴低丙种球蛋白血症为特征。其主要临床表现为婴儿恶性骨硬化症（表现为骨密度增加、骨折、眼球运动异常/失明、眼球震颤）、血液系统异常、骨髓衰竭（e.g.贫血，肝脾肿大）和免疫缺陷（表现为反复呼吸道感染），与外周B细胞分化障碍所致免疫球蛋白水平降低有关。"},"tr":{"name":"Osteopetroz-hipogammaglobulinemi sendromu","synonyms":["Otozomal çekinik osteopetroz tip 7","Hipogammaglobulinemi ile seyreden otozomal çekinik osteoklast-zayıf osteopetroz"]}},"xrefs":[{"source":"OMIM","code":"612301","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"650867744"},{"source":"MONDO","code":"0012859","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751205","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10106","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":101977,"name":"Immunodeficiency due to predominantly antibodies defect","classifications":[156,195]},{"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":"TNFRSF11A","name":"TNF receptor superfamily member 11a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18606301[PMID]","hgnc":"11908","ensembl":"ENSG00000141655","omim":"603499","loci":["18q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"18606301[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18606301[PMID]"}],"phenotypes":null}