{"orpha":178506,"name":"Interstitial lung disease-brain calcification syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Brain calcification, Rajab type","Developmental delay-brain calcification-interstitial lung disease syndrome","Interstitial lung disease-brain calcification syndrome, Rajab type"],"definition":"A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178506/","orphanet_url":"https://www.orpha.net/en/disease/detail/178506","names":{"fr":{"name":"Syndrome de pneumopathie interstitielle-calcification cérébrale","synonyms":["Calcification cérébrale type Rajab","Pneumopathie interstitielle-calcification cérébrale, type Rajab","Syndrome de retard de développement-calcification cérébrale-pneumopathie interstitielle"],"definition":"La calcification cérébrale de type Rajab est caractérisée par des calcifications des ganglions de la base et du cortex, un retard de développement, une petite taille, une rétinopathie et une microcéphalie. L'absence de détérioration progressive des fonctions neurologiques est caractéristique de la maladie."},"de":{"name":"Interstitielle Lungenkrankheit-Gehirnkalzifikation-Syndrom","synonyms":["Entwicklungsverzögerung-Hirnverkalkung-interstitielle Lungenkrankheit-Syndrom","Verkalkung des Gehirns vom Typ Rajab"]},"es":{"name":"Síndrome de enfermedad pulmonar intersticial-calcificación cerebral","synonyms":["Calcificación cerebral tipo Rajab","Síndrome de enfermedad pulmonar intersticial-calcificación cerebral tipo Rajab","Síndrome de retraso del desarrollo-calcificación cerebral-enfermedad pulmonar intersticial"],"definition":"Es un trastorno hereditario caracterizado por calcificaciones generalizadas de ganglios basales y corteza, retraso del desarrollo, talla baja, retinopatía y microcefalia. La ausencia de deterioro progresivo de las funciones neurológicas es característica de esta enfermedad."},"it":{"name":"Sindrome pneumopatia interstiziale-calcificazioni cerebrali","synonyms":["Sindrome ritardo dello sviluppo-calcificazioni cerebrali-pneumopatia interstiziale","Sindrome pneumopatia interstiziale-calcificazioni cerebrali tipo Rajab","Calcificazione cerebrale, tipo Rajab"]},"nl":{"name":"Interstitiële longziekte - calcificatie van hersenen-syndroom","synonyms":["Cerebrale calcificatie, Rajab-type","Hersenverkalking, Rajab-type","Interstitiële longziekte - hersenverkalking-syndroom","Ontwikkelingsachterstand - calcificatie van hersenen - interstitiële longziekte-syndroom","Ontwikkelingsachterstand - hersenverkalking - interstitiële longziekte-syndroom"],"definition":"Een zeldzame, erfelijke aandoening, gekenmerkt door wijdverspreide calcificatie van basale ganglia en cortex, ontwikkelingsachterstand, kleine gestalte, retinopathie en microcefalie. De afwezigheid van progressieve aftakeling van neurologische functies is kenmerkend voor de ziekte."},"pt":{"name":"Síndrome de doença pulmonar intersticial-calcificação cerebral","synonyms":["Calcificação cerebral, tipo Rajab","Síndrome de atraso no desenvolvimento-calcificação cerebral-doença pulmonar intersticial","Doença pulmonar intersticial-síndrome de calcificação cerebral, tipo Rajab"]},"pl":{"name":"Zespół śródmiąższowej choroby płuc - zwapnienia mózgu","synonyms":["Brain calcification, Rajab type","Developmental delay-brain calcification-interstitial lung disease syndrome","Interstitial lung disease-brain calcification syndrome, Rajab type"]},"cs":{"name":"Kalcifikace mozku, typ Rajabové","synonyms":["Brain calcification, Rajab type","Developmental delay-brain calcification-interstitial lung disease syndrome","Interstitial lung disease-brain calcification syndrome, Rajab type"]},"uk":{"name":"Кальцифікація мозку, тип Раджаб","definition":"A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease."},"zh":{"name":"Rajab型脑钙化","definition":"Rajab型脑钙化是一种罕见的遗传性疾病，其主要临床表现为基底节和皮质广泛钙化、发育迟缓、身材矮小、视网膜病变和小头畸形。该病的特征为非进行性神经功能恶化。"},"tr":{"name":"Beyin kalsifikasyonu, Rajab tipi"}},"xrefs":[{"source":"OMIM","code":"613658","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619013","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"356225293"},{"source":"MONDO","code":"100215","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[{"symbol":"FARSA","name":"phenylalanyl-tRNA synthetase subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39766840[PMID]_31355908[PMID]","hgnc":"3592","ensembl":"ENSG00000179115","omim":"602918","loci":["19p13.13"]},{"symbol":"FARSB","name":"phenylalanyl-tRNA synthetase subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30014610[PMID]","hgnc":"17800","ensembl":"ENSG00000116120","omim":"609690","loci":["2q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"19161147[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19161147[PMID]"}],"phenotypes":null}