{"orpha":363454,"name":"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures","SMALED2"],"definition":null,"note":"This disease is described under Autosomal dominant childhood-onset proximal spinal muscular atrophy","url":"https://raremap.alftech.space/d/ORPHA-363454/","orphanet_url":"https://www.orpha.net/en/disease/detail/363454","names":{"fr":{"name":"Amyotrophie spinale proximale autosomique dominante de l'enfance associée à BICD2","synonyms":["Amyotrophie spinale proximale autosomique dominante de l'enfance avec prédominance des membres inférieurs associée à BICD2","SMALED2"]},"de":{"name":"BICD2-assoziierte proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant","synonyms":["BICD2-assoziierte autosomal dominante spinale Muskelatrophie mit vorwiegender Beinbeteiligung Typ 2","SMALED2"]},"es":{"name":"Atrofia muscular espinal proximal asociada a BICD2 autosómica dominante de inicio en la infancia","synonyms":["Atrofia muscular espinal proximal asociada a BICD2 con predominio en extremidades inferiores autosómica dominante con contracturas","SMALED2"]},"it":{"name":"Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'infanzia, con contratture","synonyms":["Atrofia muscolare spinale prossimale, autosomica dominante, con coinvolgimento prevalente degli arti inferiori, con contratture","SMALED2"]},"nl":{"name":"BICD2-gerelateerde autosomaal dominante proximale spinale musculaire atrofie met aanvang in de kindertijd","synonyms":["BICD2-gerelateerde autosomaal dominante proximale spinale musculaire atrofie van voornamelijk de onderste ledematen met contracturen","SMALED2"]},"pt":{"name":"Atrofia muscular espinhal proximal de início na infância autossómica dominante BICD2-relacionada","synonyms":["Atrofia muscular espinhal proximal com contracturas de início na infância autossómica dominante"]},"pl":{"name":"Autosomalny dominujący zanik mięśni odcinka bliższego kręgosłupa związany z BICD2 objawiający się w dzieciństwie","synonyms":["Autosomalny dominujący proksymalny rdzeniowy zanik mieśni z przykurczami dominujący w kończynach dolnych","SMALED2"]},"cs":{"name":"Autozomálně dominantní proximální spinální svalová atrofie s kontrakturami s nástupem v dětství","synonyms":["SMALED2","Autozomálně dominantní proximální spinální svalová atrofie s kontrakturami, predominantně na dolních končetinách"]},"uk":{"name":"Аутосомно-домінантна BICD2-повязана проксимальна спінальна мязова атрофія, що починається в дитячому віці","synonyms":["BICD2-асоційована аутосомно-домінантна проксимальна спінальна мязова атрофія нижніх кінцівок з контрактурами","SMALED2"]},"zh":{"name":"BICD2基因相关儿童起病常染色体显性近端脊髓性肌萎缩症","synonyms":["BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures","SMALED2"]},"tr":{"name":"BICD2-ilişkili otozomal dominant, çocuklukta başlayan proksimal spinal kas atrofisi","synonyms":["Kontraktürler ile seyreden BICD2-ilişkili alt ekstremite baskın otozomal dominant proksimal spinal kas atrofisi","SMALED2"]}},"xrefs":[{"source":"OMIM","code":"615290","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618291","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014121","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4747715","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13222","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":363447,"name":"Autosomal dominant childhood-onset proximal spinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"BICD2","name":"BICD cargo adaptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23664119[PMID]","hgnc":"17208","ensembl":"ENSG00000185963","omim":"609797","loci":["9q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"26594138[PMID]_26998597[PMID]_27784775[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26594138[PMID]_27784775[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-28","source":"22628388[PMID]_23664120[PMID]","terms":[{"hpo":"HP:0005853","label":"Congenital foot contraction deformities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Very rare (<4-1%)","criteria":null}]}}