{"orpha":123,"name":"Björnstad syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Deafness-pili torti-hypogonadism syndrome","Hearing loss-pili torti-hypogonadism syndrome","Crandall syndrome"],"definition":"A rare mitochondrial oxidative phosphorylation disorder, caused by complex&nbsp;III deficiency, characterized by congenital sensorineural hearing loss and pili torti. Hypogonadism and intellectual disability were occasionally reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-123/","orphanet_url":"https://www.orpha.net/en/disease/detail/123","names":{"fr":{"name":"Syndrome de Björnstad","synonyms":["Syndrome de surdité-pili torti-hypogonadisme","Syndrome de Crandall"],"definition":"Maladie rare de la phosphorylation oxydative mitochondriale, causée par un déficit en complexe&nbsp;III, se caractérisant par une surdité neurosensorielle congénitale et des pili torti. Des cas d'hypogonadisme et de déficience intellectuelle ont parfois été observés."},"de":{"name":"Björnstad-Syndrom","synonyms":["Hörverlust-Pili-torti-Hypogonadismus-Syndrom","Crandall-Syndrom","Schwerhörigkeit-Pili torti-Hypogonadismus-Syndrom"]},"es":{"name":"Síndrome de Björnstadt","synonyms":["Síndrome de hipoacusia-pili torti-hipogonadismo","Síndrome de sordera-pili torti-hipogonadismo","Síndrome de Crandall"]},"it":{"name":"Sindrome di Björnstad"},"nl":{"name":"Syndroom van Björnstad","synonyms":["Doofheid - pili torti - hypogonadisme-syndroom","Gehoorverlies - pili torti - hypogonadisme-syndroom","Syndroom van Crandall"]},"pt":{"name":"Síndrome Björnstadt"},"pl":{"name":"Zespół Björnstada","synonyms":["Głuchota - włosy skręcone - hipogonadyzm"]},"cs":{"name":"Björnstadův syndrom","synonyms":["Syndrom zahrnující hluchotu, spirálovitě stočené vlasy a hypogonadismus"]},"uk":{"name":"Синдром Бьорнстада","synonyms":["Синдром глухоти-pili torti-гіпогонадизму","Синдром приглухуватості-pili torti-гіпогонадизму"],"definition":"Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti."},"zh":{"name":"Bj÷rnstad综合征","synonyms":["听力丧失-眩晕-性腺功能减退综合征"]},"tr":{"name":"Björnstad sendromu","synonyms":["Sağırlık-pili torti-hipogonadizm sendromu","İşitme kaybı-pili torti-hipogonadizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"262000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2035502746"},{"source":"MONDO","code":"0009872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"22","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":202,"name":"Crandall syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"BCS1L","name":"BCS1 ubiquinol-cytochrome c reductase complex chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17314340[PMID]_24172246[PMID]_24236502[PMID]","hgnc":"1020","ensembl":"ENSG00000074582","omim":"603647","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"11807445[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-26","source":"10694305[PMID]","terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null}]}}