{"orpha":508542,"name":"Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MYSM1 deficiency"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508542/","orphanet_url":"https://www.orpha.net/en/disease/detail/508542","names":{"fr":{"name":"Syndrome de pancytopénie progressive congénitale-déficit immunitaire en cellules B-dysplasie squelettique","synonyms":["Déficit en MYSM1"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une insuffisance précoce et progressive de la moelle osseuse avec anémie, une leucopénie, une légère thrombopénie et des caractéristiques myélodysplasiques, ainsi que par des signes cliniques non hématologiques, telles qu'un retard de développement, des cataractes, une dysmorphie faciale, une petite taille et des malformations squelettiques. L'immunodéficience touche principalement les cellules B et peut causer une sensibilité accrue aux infections. Parmi les autres signes cliniques rapportés figurent une sécheresse cutanée et l'eczéma, des malformations cardiaques, une perte auditive et une perte de volume cérébral identifiée à l'IRM."},"de":{"name":"Kongenitales progressives Knochenmarkversagen-B-Zell-Immundefekt-Skelettdysplasie-Syndrom","synonyms":["MYSM1-Defizienz","MYSM1-Mangel"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch ein früh einsetzendes progressives Knochenmarkversagen mit Anämie, Leukopenie, leichter Thrombopenie und myelodysplastischen Merkmalen sowie durch nicht-hämatologische Manifestationen wie Entwicklungsverzögerung, Katarakte, Gesichtsdysmorphien, Kleinwuchs und Skelettanomalien gekennzeichnet ist. Die Immunschwäche betrifft vor allem die B-Zellen und kann zu einer erhöhten Anfälligkeit für Infektionen führen. Zu den weiteren berichteten Merkmalen gehören trockene Haut und Ekzeme, Herzanomalien, Hörverlust und eine Verringerung des Hirnvolumens bei der Bildgebung des Gehirns."},"es":{"name":"Síndrome congénito de insuficiencia medular progresiva-inmunodeficiencia de células B-displasia esquelética","synonyms":["Deficiencia de MYSM1"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente que se acompaña de insuficiencia medular progresiva de inicio precoz con anemia, leucopenia, trombopenia leve y características mielodisplásicas. Las manifestaciones no hematológicas incluyen retraso del desarrollo, cataratas, dismorfia facial, talla baja, y anomalías esqueléticas. La inmunodeficiencia afecta principalmente a las células B y puede conllevar una mayor susceptibilidad a las infecciones. Otras características adicionales descritas son piel seca y eccema, anomalías cardíacas, pérdida auditiva y reducción del volumen cerebral en la neuroimagen."},"it":{"name":"Sindrome insufficienza midollare congenita progressiva-immunodeficienza delle cellule B-displasia scheletrica","synonyms":["Deficit di MYSM1"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da insufficienza midollare progressiva ad esordio precoce associata ad anemia, leucopenia, lieve trombopenia, segni mielodisplastici e sintomi non ematologici (ritardo dello sviluppo, cataratta, dismorfismi facciali, bassa statura e anomalie scheletriche). L'immunodeficienza interessa soprattutto i linfociti B e predispone alle infezioni. I pazienti possono presentare anche cute secca ed eczema, cardiopatie, sordità e riduzione del volume cerebrale (evidente alle neuroimmagini)."},"nl":{"name":"Congenitaal progressief beenmergfalen - B-cel-immuundeficiëntie - skeletdysplasie-syndroom","synonyms":["MYSM1-deficiëntie"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door vroege aanvang van progressief beenmergfalen met anemie, leukopenie, milde trombocytopenie, en myelodysplastische kenmerken, alsook niet-hematologische manifestaties, zoals ontwikkelingsachterstand, cataract, faciale dysmorfie, kleine gestalte, en skeletanomalieën. Immuundeficiëntie treft voornamelijk B-cellen en kan leiden tot verhoogde susceptibiliteit voor infectie. Gerapporteerde bijkomende kenmerken zijn onder meer droge huid en eczeem, hartanomalieën, gehoorverlies, en reductie van cerebraal volume op beeldvorming van hersenen."},"pt":{"name":"Síndrome de falência progressiva da medula óssea-imunodeficiência células B-displasia esquelética"},"pl":{"name":"Zespół wrodzonej postępującej niewydolności szpiku kostnego- niedoboru odporności związanej z limfocytami B-dysplazji szkieletowej","synonyms":["Niedobór MYSM1"]},"cs":{"name":"Syndrom zahrnující vrozené progresivní selhání kostní dřeně, imunodeficienci B buněk a skeletální dysplázii","synonyms":["Deficit MYSM1"]},"uk":{"name":"Вроджена прогресуюча недостатність кісткового мозку-В-клітинний імунодефіцит-скелетна дисплазія","synonyms":["Дефіцит MYSM1"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging."},"zh":{"name":"先天性进行性骨髓衰竭-B细胞免疫缺陷-骨骼发育不良综合征","synonyms":["MYSM1缺乏"],"definition":"一种罕见的多发性先天性异常/畸形综合征，其特点是早期发病的进行性骨髓衰竭，伴有贫血、白细胞减少、轻度血小板减少和脊髓发育不良的特征，以及发育迟缓、白内障、面部畸形、身材矮小、骨骼异常等非血液学表现。免疫缺陷主要影响B细胞，可能导致更加易发感染。其他报告的特征包括皮肤干燥和湿疹、心脏异常、听力损失和脑成像显示脑容量减少。"},"tr":{"name":"Doğumsal ilerleyici kemik iliği yetmezliği-B hücre immün yetmezliği-iskelet displazisi sendromu","synonyms":["MYSM1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"618116","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567897","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":169349,"name":"Immuno-osseous dysplasia","classifications":[156,195]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":86836,"name":"Refractory cytopenia with multilineage dysplasia","classifications":[194,202,233]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"MYSM1","name":"Myb like, SWIRM and MPN domains 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28115216[PMID]","hgnc":"29401","ensembl":"ENSG00000162601","omim":"612176","loci":["1p32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28115216[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28115216[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-23","source":"30746751[PMID]_28115216[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031688","label":"Erythroid dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031689","label":"Megakaryocyte dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001896","label":"Reticulocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000916","label":"Broad clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012817","label":"Noncompaction cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004991","label":"Rhizomelic arm shortening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}