{"orpha":139441,"name":"Hypomyelination with atrophy of basal ganglia and cerebellum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["H-ABC"],"definition":"A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Patients present with distinctive MRI findings of diffuse hypomyelination of the cerebral hemispheres, mild to severe cerebellar atrophy, and atrophy of the basal nuclei.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139441/","orphanet_url":"https://www.orpha.net/en/disease/detail/139441","names":{"fr":{"name":"Hypomyélinisation avec atrophie des noyaux gris centraux et du cervelet","synonyms":["H-ABC","Hypomyélinisation avec atrophie des ganglions de la base et du cervelet"],"definition":"Maladie rare caractérisée par une spasticité à progression lente, un syndrome extrapyramidal (dystonie, choreoathétose et rigidité), une ataxie cérébelleuse, des toubles cognitifs modérés à sévères et une anarthrie/dysarthrie. Les signes caractéristiques d'une hypomyélinisation diffuse des hémisphères cérébraux, d'une atrophie cérébelleuse légère à sévère et d'une atrophie des noyaux gris centraux sont visibles à l'IRM."},"de":{"name":"Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns","synonyms":["H-ABC"],"definition":"Eine seltene Störung, die durch langsam fortschreitende Spastik, extrapyramidale Bewegungsstörungen (Dystonie, Choreoathetose und Rigidität), zerebelläre Ataxie, mäßige bis schwere kognitive Defizite und Anarthrie/Dysarthrie gekennzeichnet ist. Die Patienten weisen im MRT eine diffuse Hypomyelinisierung der Gehirnhälften, eine leichte bis schwere Atrophie des Kleinhirns und eine Atrophie der Basalkerne auf."},"es":{"name":"Hipomielinización con atrofia de los ganglios basales y del cerebelo","synonyms":["H-ABC"],"definition":"Es un trastorno poco frecuente caracterizado por espasticidad lentamente progresiva, trastornos extrapiramidales del movimiento (distonía, coreoatetosis y rigidez), ataxia cerebelosa, déficit cognitivo de moderado a grave, y anartria/disartria."},"it":{"name":"Ipomielinizzazione con atrofia dei gangli basali e del cervelletto","synonyms":["H-ABC"]},"nl":{"name":"Hypomyelinisatie met atrofie van basale ganglia en cerebellum","synonyms":["H-ABC"],"definition":"Een zeldzame aandoening, gekenmerkt door traag progressieve spasticiteit, extrapiramidale bewegingsstoornissen (dystonie, choreoathetose en rigiditeit), cerebellaire ataxie, matige tot ernstige cognitieve stoornis, en anartrie/dysartrie. Patiënten vertonen kenmerkende MRI-bevindingen van diffuse hypomyelinisatie van cerebrale hemisferen, milde tot ernstige cerebellaire atrofie, en atrofie van de basale kernen."},"pt":{"name":"Hipomielinização com atrofia dos gânglios basais e do cerebelo"},"pl":{"name":"Hipomielinizacja z zanikiem zwojów podstawnych i móżdżku","synonyms":["H-ABC"]},"cs":{"name":"Hypomyelinizace s atrofií bazálních ganglií a mozečku","synonyms":["H-ABC"]},"uk":{"name":"Гіпомієлінізація з атрофією базальних гангліїв і мозочка","synonyms":["H-ABC"],"definition":"A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria."},"zh":{"name":"髓鞘形成不足伴基底节和小脑萎缩","synonyms":["H-ABC"],"definition":"一种罕见疾病，其特征是缓慢进行性痉挛、锥体外系运动障碍（肌张力障碍、舞蹈手足徐动症和僵直）、小脑共济失调、中重度认知障碍以及构音不全/构音困难。"},"tr":{"name":"Bazal gangliyon ve beyincik atrofisi ile seyreden hipomiyelinazyon","synonyms":["H-ABC"]}},"xrefs":[{"source":"OMIM","code":"612438","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617899","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"267638596"},{"source":"MONDO","code":"12905","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TUBB4A","name":"tubulin beta 4A class IVa","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23582646[PMID]","hgnc":"20774","ensembl":"ENSG00000104833","omim":"602662","loci":["19p13.3"]},{"symbol":"UFM1","name":"ubiquitin fold modifier 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28931644[PMID]","hgnc":"20597","ensembl":"ENSG00000120686","omim":"610553","loci":["13q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":216.0,"area":"Worldwide","status":"Validated","source":"39951964[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}