{"orpha":225154,"name":"Familial infantile bilateral striatal necrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial IBSN","Familial infantile striatonigral degeneration","Familial infantile striatonigral necrosis"],"definition":"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-225154/","orphanet_url":"https://www.orpha.net/en/disease/detail/225154","names":{"fr":{"name":"Nécrose striatale bilatérale de l'enfant, forme familiale","synonyms":["Dégénérescence striato-nigrique de l'enfant, forme familiale","Dégénérescence strio-nigrique de l'enfant, forme familiale","Nécrose striato-nigrique de l'enfant, forme familiale","Nécrose strio-nigrique de l'enfant, forme familiale"],"definition":"La nécrose striatale bilatérale de l'enfant, forme familiale est la forme familiale de la nécrose striatale bilatérale de l'enfant (IBSN), un syndrome de dégénérescence spongieuse symétrique bilatérale du noyau caudé, du putamen et du globus pallidus caractérisée par une régression développementale, une choréo-athétose et une dystonie évoluant vers une quadriparésie spastique."},"de":{"name":"Striatale Nekrose, infantile familiäre","synonyms":["Familiäre IBSN","Familiäre infantile striatonigrale Degeneration","Striatonigrale Nekrose, infantile familiäre"]},"es":{"name":"Necrosis estriatal bilateral infantil familiar","synonyms":["Degeneración estriatonigral infantil familiar","IBSN familiar","Necrosis estriatonigral infantil familiar"],"definition":"La necrosis estriatal bilateral infantil familiar es la forma familiar de la necrosis estriatal bilateral infantil (IBSN; consulte este término), un síndrome de degeneración esponjosa bilateral y simétrica del núcleo caudado, el putamen y el globo pálido caracterizado por regresión en el desarrollo, coreoatetosis y distonía, que progresa a cuadriparesia espástica."},"it":{"name":"Necrosi striatale bilaterale infantile familiare","synonyms":["Degenerazione nigrostriatale infantile familiare","IBSN familiare","Necrosi nigrostriatale infantile familiare"]},"nl":{"name":"Familiale infantiele bilaterale striatale necrose","synonyms":["Familiale IBSN","Familiale infantiele striatonigrale degeneratie","Familiale infantiele striatonigrale necrose"],"definition":"Familiale infantiele bilaterale striatale necrose is de familiale vorm van infantiele bilaterale striatale necrose (IBSN), een syndroom van bilaterale symmetrische spongiforme degeneratie van nucleus caudatus, putamen en globus pallidus, gekenmerkt door ontwikkelingsregressie, choreoathetose en dystonie met progressie naar spastische quadriparese."},"pt":{"name":"Necrose do estriado bilateral da infância familiar"},"pl":{"name":"Rodzinna dzięcięca obustronna martwica prążkowia","synonyms":["Rodzinna dziecięca martwica nigrostriatialna","Rodzinna IBSN","Rodzinne dziecięce zwyrodnienie nigrostriatialne"]},"cs":{"name":"Familiární infantilní bilaterální nekróza striata","synonyms":["Familiární IBSN","Familiární infantilní striatonigrální degenerace","Familiární infantilní striatonigrální nekróza"]},"uk":{"name":"Сімейний інфантильний двосторонній некроз стріатуму","synonyms":["Сімейний IBSN","Сімейна дитяча стриатоніградна дегенерація","Сімейний інфантильний стриатонігральний некроз"],"definition":"Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis."},"zh":{"name":"家族性婴幼儿双侧纹状体坏死","synonyms":["家族性婴幼儿黑质纹状体坏死"],"definition":"家族性婴儿双侧纹状体坏死是婴儿双侧纹状体坏死（IBSN；见该词条）的家族形式，是一种双侧尾状核、壳核和苍白球对称性海绵状变性的综合征，其特征是发育退化、舞蹈症和肌张力障碍并进展为痉挛性四肢瘫。"},"tr":{"name":"Ailesel infantil bilateral striatal nekroz","synonyms":["Ailesel IBSN","Ailesel infantil striatonigral nekroz","Ailesel infantil striatonigral dejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"271930","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"500003","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620427","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1873983370"},{"source":"MONDO","code":"0010080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4087174","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077450","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1575,"name":"OBSOLETE: Infantile striatothalamic degeneration","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1576,"name":"Infantile bilateral striatal necrosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ADAR","name":"adenosine deaminase RNA specific","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24262145[PMID]","hgnc":"225","ensembl":"ENSG00000160710","omim":"146920","loci":["1q21.3"]},{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]},{"symbol":"NUP54","name":"nucleoporin 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36333996[PMID]","hgnc":"17359","ensembl":"ENSG00000138750","omim":"607607","loci":["4q21.1"]},{"symbol":"NUP62","name":"nucleoporin 62","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8066","ensembl":"ENSG00000213024","omim":"605815","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-22","source":"8734018[PMID]_16786527[PMID]_23334465[PMID]_29510394[PMID]_8554662[PMID)_12374138[PMID]_14718703[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007374","label":"Atrophy/Degeneration involving the caudate nucleus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006999","label":"Basal ganglia gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007811","label":"Horizontal pendular nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002446","label":"Astrocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006799","label":"Basal ganglia cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012697","label":"Small basal ganglia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007688","label":"Undetectable light- and dark-adapted electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}