{"orpha":401764,"name":"Pancytopenia-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Trilineage bone marrow failure-developmental delay syndrome"],"definition":"A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401764/","orphanet_url":"https://www.orpha.net/en/disease/detail/401764","names":{"fr":{"name":"Syndrome de pancytopénie-retard de développement","definition":"Maladie hématologique génétique rare caractérisée par une insuffisance médullaire progressive affectant les trois lignées (avec hypocellularité), un retard de développement et des difficultés d'apprentissage, ainsi qu'une microcéphalie. Une légère dysmorphie faciale et une hypotonie ont également été rapportées."},"de":{"name":"Panzytopenie-Entwicklungsverzögerung-Syndrom","synonyms":["Trilineäres Knochenmarkversagen-Entwicklungsverzögerung-Syndrom"]},"es":{"name":"Síndrome de pancitopenia-retraso del desarrollo","synonyms":["Síndrome de insuficiencia de la médula ósea trilineal-retraso del desarrollo"],"definition":"Es un trastorno hematológico, genético poco frecuente, que se caracteriza por fallo progresivo de las tres líneas de la médula ósea (con hipocelularidad), retraso del desarrollo psicomotor con discapacidad cognitiva y microcefalia. También se han descrito dismorfia facial leve e hipotonía."},"it":{"name":"Sindrome pancitopenia-ritardo dello sviluppo","synonyms":["Sindrome insufficienza del midollo osseo trilineare-ritardo dello sviluppo"],"definition":"La sindrome che associa la pancitopenia e il ritardo dello sviluppo è una malattia ematologica genetica rara, caratterizzata da insufficienza del midollo osseo progressiva delle tre linee cellulari (con ipocellularità), ritardo dello sviluppo, difficoltà di apprendimento e microcefalia. Può associarsi a dismorfismi facciali sfumati ed ipotonia."},"nl":{"name":"Pancytopenie - ontwikkelingsachterstand-syndroom","synonyms":["Trilineair beenmergfalen - ontwikkelingsachterstand-syndroom"],"definition":"Pancytopenie - ontwikkelingsachterstand-syndroom is een zeldzame, genetische, hematologische stoornis die gekarakteriseerd wordt door progressief trilineair beenmergfalen (met hypocellulariteit), ontwikkelingsachterstand met leerbeperkingen, en microcefalie. Milde faciale dysmorfie en hypotonie werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de pancitopenia-perturbação do desenvolvimento"},"pl":{"name":"Zespół pancytopenia-opóźnienie rozwoju","synonyms":["Zespół trójliniowa niewydolność szpiku-opóźnienie rozwoju"]},"cs":{"name":"Syndrom zahrnující pancytopenii a opožděný vývoj","synonyms":["Syndrom zahrnující trilineární selhání kostní dřeně a opožděný vývoj"]},"uk":{"name":"Синдром панцитопенії-затримки розвитку","synonyms":["Трилінійна недостатність кісткового мозку - синдром затримки розвитку"],"definition":"A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported."},"zh":{"name":"全血细胞减少-发育迟缓综合征","synonyms":["三系骨髓衰竭-发育迟缓综合征"],"definition":"全血细胞减少-发育迟缓综合征是一种罕见的遗传性血液病，其特征是进行性三倍体骨髓衰竭(伴有细胞减少)，发育迟缓伴学习障碍，以及小头畸形。轻度面部畸形和肌张力低下也已被报道。"},"tr":{"name":"Pansitopeni-gelişme geriliği sendromu","synonyms":["Trilineage kemik iliği yetmezliği-gelişme geriliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"615715","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"ERCC6L2","name":"ERCC excision repair 6 like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24507776[PMID]","hgnc":"26922","ensembl":"ENSG00000182150","omim":"615667","loci":["9q22.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24507776[PMID]_27185855[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24507776[PMID]_27185855[PMID]"}],"phenotypes":null}