{"orpha":667,"name":"Autosomal recessive malignant osteopetrosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile malignant osteopetrosis"],"definition":"A rare congenital disorder of bone resorption characterized by generalized skeletal densification.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-667/","orphanet_url":"https://www.orpha.net/en/disease/detail/667","names":{"fr":{"name":"Ostéopétrose maligne autosomique récessive","synonyms":["Ostéopétrose maligne infantile"],"definition":"Maladie congénitale rare de la résorption osseuse caractérisée par une densification généralisée du squelette."},"de":{"name":"Osteopetrose, maligne, autosomal-rezessive Form","synonyms":["Osteopetrose, infantile maligne"],"definition":"Eine seltene angeborene Störung der Knochenresorption mit generalisiert erhöhter Knochendichte."},"es":{"name":"Osteopetrosis maligna autosómica recesiva","synonyms":["Osteopetrosis maligna del lactante"],"definition":"Es un trastorno congénito poco frecuente de la resorción ósea caracterizado por un aumento generalizado de la densidad ósea."},"it":{"name":"Osteopetrosi maligna autosomica recessiva","synonyms":["Osteopetrosi maligna infantile"]},"nl":{"name":"Autosomaal recessieve maligne osteopetrose","synonyms":["Infantiele maligne osteopetrose"],"definition":"Een zeldzame congenitale aandoening van botresorptie, gekenmerkt door gegeneraliseerde densificatie van skelet."},"pt":{"name":"Osteopetrose maligna autossómica recessiva","synonyms":["Osteopetrose maligna infantil"],"definition":"Doença de reabsorção óssea, congénita e rara, caracterizada por densificação esquelética generalizada."},"pl":{"name":"Autosomalna recesywna osteopetroza złośliwa","synonyms":["Dziecięca osteopetroza złośliwa"]},"cs":{"name":"Autozomálně recesivní maligní osteopetróza","synonyms":["Dětská maligní osteopetróza"]},"uk":{"name":"Аутосомно-рецесивний злоякісний остеопетроз","synonyms":["Інфантильний злоякісний остеопетроз"],"definition":"A rare congenital disorder of bone resorption characterized by generalized skeletal densification."},"zh":{"name":"常染色体隐性恶性型骨硬化症","synonyms":["婴儿恶性石骨症"]},"tr":{"name":"Otozomal resesif habis osteopetroz","synonyms":["İnfantil habis osteopetroz"]}},"xrefs":[{"source":"OMIM","code":"259700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"259710","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"259720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611490","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615085","qualifier":"BTNT","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":"139593057"},{"source":"MONDO","code":"0019026","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1318518","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":"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) (loss of function) in","status":"Assessed","source":"20424301[PMID]_15300850[PMID]_21042819[PMID]_23877423[PMID]","hgnc":"11647","ensembl":"ENSG00000110719","omim":"604592","loci":["11q13.2"]},{"symbol":"CLCN7","name":"Cl-/H+ antiporter 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22419446[PMID]_20424301[PMID]_20301306[PMID]_23877423[PMID]","hgnc":"2025","ensembl":"ENSG00000103249","omim":"602727","loci":["16p13.3"]},{"symbol":"OSTM1","name":"osteoclastogenesis associated transmembrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15177004[PMID]","hgnc":"21652","ensembl":"ENSG00000081087","omim":"607649","loci":["6q21"]},{"symbol":"SNX10","name":"sorting nexin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22499339[PMID]_23877423[PMID]","hgnc":"14974","ensembl":"ENSG00000086300","omim":"614780","loci":["7p15.2"]},{"symbol":"TNFSF11","name":"TNF superfamily member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17632511[PMID]_23877423[PMID]","hgnc":"11926","ensembl":"ENSG00000120659","omim":"602642","loci":["13q14.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib 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:0010719","label":"Abnormality of hair texture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002257","label":"Chronic rhinitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010543","label":"Opsoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007807","label":"Optic nerve compression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011002","label":"Osteopetrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null}]}}