{"orpha":2585,"name":"Ataxia-pancytopenia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ATXPC syndrome","Myelocerebellar disorder","SAMD9L-related ataxia-pancytopenia syndrome"],"definition":"A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2585/","orphanet_url":"https://www.orpha.net/en/disease/detail/2585","names":{"fr":{"name":"Syndrome d'ataxie-pancytopénie","synonyms":["Syndrome ATXPC","Syndrome d'ataxie-pancytopénie associé à SAMD9L","Syndrome myélocérébelleux"],"definition":"Maladie génétique rare caractérisée par une ataxie cérébelleuse, des cytopénies et une prédisposition à l'insuffisance médullaire et à la leucémie myéloïde. Inconstantes, les caractéristiques neurologiques comprennent : ataxie cérébelleuse lentement progressive ou troubles de l'équilibre avec atrophie cérébelleuse et hypersignal de la substance blanche périventriculaire en T2 visible à l'IRM cérébrale, nystagmus horizontal et vertical, dysmétrie, dysarthrie, signes de l'atteinte du tractus pyramidal et ralentissement de la vitesse de conduction nerveuse. Les anomalies hématologiques sont variables et peuvent être intermittentes. Elles comprennent des cytopénies de toutes les lignées cellulaires, un déficit immunitaire, une myélodysplasie et une leucémie myéloïde aiguë."},"de":{"name":"Ataxie-Panzytopenie-Syndrom","synonyms":["ATXPC-Syndrom","Myelo-zerebelläres Syndrom","SAMD9L-assoziiertes Ataxie-Panzytopenie-Syndrom"]},"es":{"name":"Síndrome de ataxia-pancitopenia","synonyms":["Síndrome ATXPC","Síndrome de ataxia-pancitopenia asociado a SAMD9L","Síndrome mielocerebeloso"],"definition":"Es una enfermedad genética poco frecuente caracterizada por ataxia cerebelosa, citopenia, predisposición a insuficiencia medular y leucemia mieloide. Las características neurológicas son variables e incluyen ataxia cerebelosa lentamente progresiva o deterioro del equilibrio con atrofia cerebelosa e hiperintensidades de la sustancia blanca periventricular en imágenes T2 de RM cerebral, nistagmo horizontal y vertical, dismetría, disartria, signos piramidales y reducción de la velocidad de conducción nerviosa. Las anomalías hematológicas son variables y pueden ser intermitentes, incluyendo citopenia de todas las líneas celulares, inmunodeficiencia, mielodisplasia y leucemia mieloide aguda."},"it":{"name":"Sindrome atassia-pancitopenia","synonyms":["Disturbo mielocerebellare","Sindrome atassia-pancitopenia associata a SAMD9L","Sindrome ATXPC"],"definition":"La sindrome che associa l'atassia e la pancitopenia è una malattia genetica rara, caratterizzata da atassia cerebellare, citopenia e predisposizione all'insufficienza del midollo osseo ed alla leucemia mieloide. I sintomi neurologici comprendono l'atassia cerebellare a progressione lenta o la compromissione dell'equilibrio, mentre la RMN del cervello evidenzia atrofia cerebellare ed iperintensità della sostanza bianca periventricolare in T2. Si associano il nistagmo orizzontale verticale, la dismetria, la disartria, i segni piramidali e la riduzione della velocità di conduzione nervosa. Le anomalie ematologiche sono variabili e possono essere intermittenti; comprendono la citopenia di tutte le linee cellulari, l'immunodeficienza, la mielodisplasia e la leucemia mieloide acuta."},"nl":{"name":"Ataxie - pancytopenie-syndroom","synonyms":["ATXPC-syndroom","Myelocerebellaire stoornis","SAMD9L-gerelateerd ataxie - pancytopenie-syndroom"],"definition":"Een zeldzame, genetische ziekte, gekarakteriseerd door cerebellaire ataxie, cytopenieën en predispositie voor beenmergfalen en myeloïde leukemie. Neurologische kenmerken zijn variabel en omvatten traag progressieve cerebellaire ataxie of evenwichtsstoornis met cerebellaire atrofie en T2-hyperintensiteiten in periventriculaire witte stof bij MRI van de hersenen, horizontale en verticale nystagmus, dysmetrie, dysartrie, piramidale tekenen en verminderde zenuwgeleidingssnelheid. Hematologische afwijkingen zijn variabel en mogelijk intermitterend, en omvatten cytopenieën van alle cellijnen, immuundeficiëntie, myelodysplasie en acute myeloïde leukemie."},"pt":{"name":"Síndrome ataxia-pancitopenia","synonyms":["Síndrome ATXPC","Síndrome de ataxia-pancitopenia SAMD9L-relacionada","Doença mielocerebelosa"]},"pl":{"name":"Ataksja - pancytopenia","synonyms":["Zaburzenie szpikowo-móżdżkowe","Zespół ataksja-pancytopenia"],"definition":"*Zespół ataksji i pancytopenii jest rzadką, genetycznie uwarunkowaną chorobą, która charakteryzuje się ataksją móżdżkową, cytopenią i predyspozycją do niewydolności szpiku kostnego i białaczki szpikowej. Zmienne objawy neurologiczne obejmują powoli postępującą ataksję móżdżkową albo zaburzenia równowagi z zanikiem móżdżku i obecnością okołokomorowych hiperintensywnych zmian w istocie białej mózgu na obrazach MRI mózgu w sekwencji T2, oczopląs poziomy i pionowy, dysmetrię, dyzartrię, objawy z układu piramidowego i zmniejszoną prędkość przewodnictwa nerwowego. Nieprawidłowości hematologiczne są zmienne i mogą występować sporadycznie; obejmują cytopenię dotyczącą wszystkich linii komórkowych, niedobór odporności, mielodysplazję szpiku i ostrą białaczkę szpikową."},"cs":{"name":"Syndrom zahrnující ataxii a pancytopenii","synonyms":["Myelocerebelární porucha"]},"uk":{"name":"Синдром атаксії-панцитопенії","synonyms":["Мієлоцеребеллярний розлад"],"definition":"A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia."},"zh":{"name":"共济失调-全血细胞减少综合征","synonyms":["脊髓小脑紊乱"]},"tr":{"name":"Ataksi-pansitopeni sendromu","synonyms":["Miyeloserebellar bozukluk"]}},"xrefs":[{"source":"OMIM","code":"159550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008038","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563233","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1327919","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":102000,"name":"Medullar disease","classifications":[181]},{"orpha":183515,"name":"Rare genetic medullar disease","classifications":[156]}],"children":[],"genes":[{"symbol":"SAMD9L","name":"sterile alpha motif domain containing 9 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27259050[PMID]","hgnc":"1349","ensembl":"ENSG00000177409","omim":"611170","loci":["7q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"28202457[PMID]_283689[PMID]_6947857[PMID]_27259050[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28202457[PMID]_283689[PMID]_6947857[PMID]_27259050[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004311","label":"Abnormal macrophage morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004820","label":"Acute myelomonocytic leukemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001908","label":"Hypoplastic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011869","label":"Abnormal platelet function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}