{"orpha":85179,"name":"Infantile osteopetrosis with neuroaxonal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85179/","orphanet_url":"https://www.orpha.net/en/disease/detail/85179","names":{"fr":{"name":"Ostéopétrose infantile avec dysplasie neuroaxonale"},"de":{"name":"Osteopetrose mit neuroaxonaler Dysplasie, infantile Form","definition":"Dieses Syndrom ist gekennzeichnet durch Osteopetrose, Agenesie des Corpus callosum, Hirnatrophie und kleinen Hippocampus."},"es":{"name":"Osteopetrosis del lactante con displasia neuroaxonal","definition":"Este síndrome se caracteriza por: osteopetrosis, agenesis del cuerpo calloso, atrofia cerebral e hipocampo pequeño."},"it":{"name":"Osteopetrosi con displasia neuroassonale, forma infantile"},"nl":{"name":"Infantiele osteopetrose met neuroaxonale dysplasie","definition":"Een syndroom, gekenmerkt door osteopetrose, agenesie van corpus callosum, cerebrale atrofie, en kleine hippocampus."},"pt":{"name":"Osteopetrose com displasia neuroaxonal, forma da infância","definition":"Este síndrome é caracterizado por osteopetrose, agenesia do corpo caloso, atrofia cerebral e hipocampo pequeno."},"pl":{"name":"Osteopetroza młodzieńcza z dysplazją neuroaksonalną"},"cs":{"name":"Infantilní osteopetróza s neuroaxonální dysplázií"},"uk":{"name":"Дитячий остеопетроз з нейроаксональною дисплазією","definition":"This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus."},"zh":{"name":"婴儿型骨硬化症伴神经轴突发育不全"},"tr":{"name":"Nöroaksonal displazi ile seyreden infantil osteopetroz"}},"xrefs":[{"source":"OMIM","code":"600329","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":"1434293148"},{"source":"MONDO","code":"0010866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510764","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10082","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":"BORCS5","name":"BLOC-1 related complex subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40621786[PMID]","hgnc":"17950","ensembl":"ENSG00000165714","omim":"616598","loci":["12p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-27","source":"28655174[PMID]_7577667[PMID]","terms":[{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025517","label":"Hypoplastic hippocampus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004330","label":"Increased skull ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025116","label":"Fetal distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null}]}}