{"orpha":1980,"name":"Bilateral striopallidodentate calcinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BSPDC","Cerebrovascular ferrocalcinosis","Idiopathic basal ganglia calcification","PFBC","Primary familial brain calcification"],"definition":"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1980/","orphanet_url":"https://www.orpha.net/en/disease/detail/1980","names":{"fr":{"name":"Calcinose striopallidodentée bilatérale","synonyms":["Calcification idiopathique des ganglions de la base","Calcification idiopathique des noyaux gris centraux","Calcification primaire familiale du cerveau","Ferrocalcinose cérébrovasculaire","PFBC"],"definition":"La calcinose striopallidodentée bilatérale (CSPB, abusivement appelée maladie de Fahr) est caractérisée par l'accumulation de dépôts de calcium dans différentes zones du cerveau, principalement dans les ganglions de la base et le noyau dentelé, et est souvent associée à une neurodégénérescence."},"de":{"name":"Striopallidodentate Kalzinose, bilaterale","synonyms":["BSPDC","Basalganglien-Kalzifizierung, idiopathische","Ferrokalzinose, zerebrovaskuläre","PFBC","Primäre familiäre Basalganglien-Kalzifikation"]},"es":{"name":"Calcinosis bilateral estriato-pálido-dentada","synonyms":["BSPDC","Calcificación cerebral familiar primaria","Calcificación idiopática de los ganglios basales","Ferrocalcinosis cerebrovascular","PFBC"],"definition":"La calcinosis bilateral estriato-pálido-dentada (BSPDC, también llamada erróneamente enfermedad de Fahr) se caracteriza por el acúmulo de depósitos de calcio en diferentes regiones cerebrales, en particular en los ganglios basales y el núcleo dentado, y se asocia a menudo con neurodegeneración."},"it":{"name":"Calcinosi striopallidodentata bilaterale","synonyms":["BSPDC","Calcificazione idiopatica dei gangli basali","Ferrocalcinosi cerebrovascolare"]},"nl":{"name":"Bilaterale striatopallidodentate calcinose","synonyms":["BSPDC","Cerebrovasculaire ferrocalcinose","Idiopathische calcificatie van basale ganglia","PFBC","Primaire familiale hersenverkalking"],"definition":"Bilaterale striatopallidodentate calcinose (BSPDC, ook foutief ziekte van Fahr genoemd) wordt gekenmerkt door accumulatie van afzettingen van calcium in verschillende gebieden van de hersenen, vooral basale ganglia en nucleus dentatus, en is vaak geassocieerd met neurodegeneratie."},"pt":{"name":"Calcinose-estrio-palido-dentada bilateral","synonyms":["Ferrocalcinose cerebro-vascular"]},"pl":{"name":"Obustronne zwapnienie prążkowiowo- gałkowo-zębate","synonyms":["BSPDC","Idiopatyczne zwapnienie jąder podstawy"]},"cs":{"name":"Oboustranná kalcinóza striopallidodentata","synonyms":["BSPDC","Cerebrovaskulární ferokalcinóza","Idiopatická kalcifikace bazálních ganglií"]},"uk":{"name":"Двосторонній стриопаллидодентатний кальциноз","synonyms":["BSPDC","Цереброваскулярний ферокальциноз","Ідіопатична кальцифікація базальних гангліїв","PFBC","Первинна сімейна кальцифікація мозку"],"definition":"Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration."},"zh":{"name":"双侧纹状体-苍白球-齿状核钙化","synonyms":["特发性基底神经节钙化症"]},"tr":{"name":"Bilateral striopallidodentat kalsinoz","synonyms":["PFBC","BSPDC","Serebrovasküler ferrokalsinoz","Primer ailesel beyin kalsifikasyonu","İdiyopatik bazal gangliyon kalsifikasyonu"]}},"xrefs":[{"source":"OMIM","code":"114100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"213600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615007","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615483","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616413","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618317","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618824","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620786","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621452","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD20.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1081370436"},{"source":"MONDO","code":"0008947","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6406","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078822","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":158124,"name":"Genetic dementia","classifications":[156]},{"orpha":89043,"name":"Rare dementia","classifications":[181]},{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CMPK2","name":"cytidine/uridine monophosphate kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"36443312[PMID]","hgnc":"27015","ensembl":"ENSG00000134326","omim":"611787","loci":["2p25.2"]},{"symbol":"JAM2","name":"junctional adhesion molecule 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31851307[PMID]","hgnc":"14686","ensembl":"ENSG00000154721","omim":"606870","loci":["21q21.3"]},{"symbol":"NAA60","name":"N-alpha-acetyltransferase 60, NatF catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"38480682[PMID]","hgnc":"25875","ensembl":"ENSG00000122390","omim":"614246","loci":["16p13.3"]},{"symbol":"PDGFB","name":"platelet derived growth factor subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23913003[PMID]_20301594[PMID]","hgnc":"8800","ensembl":"ENSG00000100311","omim":"190040","loci":["22q13.1"]},{"symbol":"MYORG","name":"myogenesis regulating glycosidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30649222[PMID]","hgnc":"19918","ensembl":"ENSG00000164976","omim":"618255","loci":["9p13.3"]},{"symbol":"PDGFRB","name":"platelet derived growth factor receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23255827[PMID]_20301594[PMID]","hgnc":"8804","ensembl":"ENSG00000113721","omim":"173410","loci":["5q32"]},{"symbol":"RRP12","name":"ribosomal RNA processing 12 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41059649[PMID]","hgnc":"29100","ensembl":"ENSG00000052749","omim":"617723","loci":["10q24.1"]},{"symbol":"SLC20A2","name":"solute carrier family 20 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-03","source":"20301594[PMID]_11295778[PMID]_37446066[PMID]_32809692[PMID]","terms":[{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007146","label":"Bilateral basal ganglia lesions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007352","label":"Cerebellar calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031987","label":"Diminished ability to concentrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional 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