{"orpha":2802,"name":"X-linked sideroblastic anemia and spinocerebellar ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pagon-Bird-Detter syndrome","X-linked sideroblastic anemia with ataxia","XLSA-A"],"definition":"A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2802/","orphanet_url":"https://www.orpha.net/en/disease/detail/2802","names":{"fr":{"name":"Anémie sidéroblastique liée à l'X et ataxie spinocérébelleuse","synonyms":["Anémie sidéroblastique liée à l'X avec ataxie","Syndrome de Pagon-Bird-Detter","XLSA-A"],"definition":"Forme syndromique rare d'anémie sidéroblastique héréditaire caractérisée par une anémie légère à modérée (avec hypochromie et microcytose) et une ataxie spinocérébelleuse précoce, à progression lente ou non progressive."},"de":{"name":"X-chromosomale sideroblastische Anämie und spinozerebelläre Ataxie","synonyms":["Pagon-Bird-Detter-Syndrom","X-chromosomale sideroblastische Anämie und Ataxie","XLSA-A"],"definition":"Eine hereditäre syndromale Form der sideroblastischen Anämie, die durch eine leichte bis mittelschwere Anämie (mit Hypochromie und Mikrozytose) und eine früh einsetzende, nicht oder langsam progrediente spinozerebelläre Ataxie gekennzeichnet ist."},"es":{"name":"Anemia sideroblástica ligada al cromosoma X y ataxia espinocerebelosa","synonyms":["Anemia sideroblástica ligada al cromosoma X con ataxia","Síndrome de Pagon-Bird-Detter","XLSA-A"],"definition":"Es una forma de anemia sideroblástica hereditaria, muy poco frecuente, caracterizada por anemia leve o moderada (con hipocromía y microcitosis) y ataxia espinocerebelosa, de inicio precoz y progresión lenta o prácticamente inexistente."},"it":{"name":"Anemia sideroblastica legata all'X e atassia spinocerebellare","synonyms":["Anemia sideroblastica legata all'X con atassia","XLSA-A"],"definition":"Si tratta di una forma sindromica ereditaria rara di anemia sideroblastica, caratterizzata da anemia lieve-moderata (con ipocromia e microcitosi), associata ad atassia spinocerebellare a esordio precoce non progressiva o a progressione lenta."},"nl":{"name":"X-gebonden sideroblastische anemie en spinocerebellaire ataxie","synonyms":["Syndroom van Pagon-Bird-Detter","X-gebonden sideroblastische anemie met ataxie","XLSA-A"],"definition":"Een zeldzame syndromale, erfelijke vorm van sideroblastische anemie, gekarakteriseerd door milde tot matige anemie (met hypochromie en microcytose) en vroeg aanvangende, niet- of traag progressieve spinocerebellaire ataxie."},"pt":{"name":"Anemia sideroblástica-ataxia espinocerebelosa ligada ao X"},"pl":{"name":"Niedokrwistość syderoblastyczna sprzężona z chromosomem X i ataksja","synonyms":["XLSA-A","Zespół Pagon, Birda i Dettera","Niedokrwistość syderoblastyczna sprzężona z chromosomem X i z ataksją"]},"cs":{"name":"X-vázaná sideroblastická anémie a ataxie","synonyms":["X-vázaná sideroblastická anémie s ataxií","XLSA-A"]},"uk":{"name":"Х-зчеплена сидеробластна анемія та спіноцеребеллярна атаксія","synonyms":["Синдром Пагона-Берд-Деттера","Х-зчеплена сидеробластна анемія з атаксією","XLSA-A"],"definition":"A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia."},"zh":{"name":"X连锁铁粒幼细胞贫血和脊髓小脑共济失调","synonyms":["X连锁铁粒幼细胞性贫血伴共济失调"]},"tr":{"name":"X'e bağlı sideroblastik anemi ve spinoserebellar ataksi","synonyms":["XLSA-A","Pagon-Bird-Detter sendromu","Ataksi ile seyreden X'e bağlı sideroblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"301310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A72.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"609727552"},{"source":"MONDO","code":"0010524","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845028","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"668","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ABCB7","name":"ATP binding cassette subfamily B member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301496[PMID]","hgnc":"48","ensembl":"ENSG00000131269","omim":"300135","loci":["Xq13.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"22398176[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22398176[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-22","source":"34354969[PMID]_4045952[PMID]_11118249[PMID]_22398176[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012187","label":"Increased erythrocyte protoporphyrin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001924","label":"Sideroblastic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034499","label":"Increased bone marrow iron","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020081","label":"Pappenheimer bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004447","label":"Poikilocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}