{"orpha":811,"name":"Shwachman-Diamond syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pancreatic insufficiency and bone marrow dysfunction","SDS","Shwachman syndrome","Shwachman-Bodian-Diamond syndrome"],"definition":"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-811/","orphanet_url":"https://www.orpha.net/en/disease/detail/811","names":{"fr":{"name":"Syndrome de Shwachman-Diamond","synonyms":["Insuffisance pancréatique et dysfonctionnement de la moelle osseuse","SDS","SSD","Syndrome de Shwachman","Syndrome de Shwachman-Bodian-Diamond"],"definition":"Le syndrome de Shwachman-Diamond (SSD) est un syndrome multisystémique rare caractérisé par une neutropénie chronique généralement légère, une insuffisance pancréatique exocrine associée à une stéatorrhée et un retard de croissance, une dysplasie squelettique avec une petite taille, et un risque d'aplasie de la moelle osseuse ou de transformation leucémique."},"de":{"name":"Shwachman-Diamond-Syndrom","synonyms":["Pankreasinsuffizienz und Knochenmarkdysfunktion","SDS","Shwachman-Bodian-Diamond-Syndrom","Shwachman-Syndrom"],"definition":"Das Shwachman-Diamond-Syndrom (SDS) ist ein seltenes multisystemisches Syndrom, das durch eine chronische und in der Regel leichte Neutropenie, eine exokrine Insuffizienz der Bauchspeicheldrüse, die mit Steatorrhoe und Wachstumsstörungen einhergeht, eine Skelettdysplasie mit Kleinwuchs und ein erhöhtes Risiko für eine Knochenmarksaplasie oder leukämische Transformation gekennzeichnet ist."},"es":{"name":"Síndrome de Shwachman-Diamond","synonyms":["Insuficiencia pancreática y disfunción de la médula ósea","SDS","Síndrome de Shwachman","Síndrome de Shwachman-Bodian-Diamond"],"definition":"Es un síndrome multisistémico poco frecuente caracterizado por neutropenia crónica y generalmente leve, insuficiencia pancreática exocrina asociada con esteatorrea y retraso del crecimiento, displasia esquelética con talla baja y un mayor riesgo de aplasia medular o transformación leucémica."},"it":{"name":"Sindrome di Shwachman-Diamond","synonyms":["Insufficienza del pancreas e disfunzione del midollo osseo","SDS","Sindrome di Shwachman","Sindrome di Shwachman-Bodian-Diamond"]},"nl":{"name":"Syndroom van Shwachman-Diamond","synonyms":["Pancreasinsufficiëntie en beenmergdisfunctie","SDS","Syndroom van Shwachman","Syndroom van Shwachman-Bodian-Diamond"],"definition":"Shwachman-Diamondsyndroom (SDS) is een zeldzaam multisystemisch syndroom dat gekenmerkt wordt door een chronische en gewoonlijk milde neutropenie, pancreatische exocriene insufficiëntie geassocieerd met steatorroe en groeistoornis, skeletale dysplasie met kleine gestalte, en een verhoogd risico op beenmergaplasie of leukemische transformatie."},"pt":{"name":"Síndrome Shwachman-Diamond","synonyms":["SDS","Síndrome Shwachman"]},"pl":{"name":"Zespół Shwachmana i Diamonda","synonyms":["Niewydolność trzustki i dysfunkcja szpiku kostnego","SDS","Zespół Shwachmana","Zespół Shwachmana, Bodiana i Diamonda"]},"cs":{"name":"Shwachmanův-Diamondův syndrom","synonyms":["SDS","Insuficience pankreatu a dysfunkce kostní dřeně","Shwachmanův syndrom","Shwachmanův-Bodianův-Diamondův syndrom","Shwachman-Diamondův syndrom","Shwachman-Bodian-Diamondův syndrom"]},"uk":{"name":"Синдром Швахмана-Даймонда","synonyms":["Підшлункова недостатність і дисфункція кісткового мозку","SDS","Синдром Швахмана","Синдром Швахмана-Бодіана-Даймонда"],"definition":"Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation."},"zh":{"name":"Shwachman-Diamond综合征","synonyms":["胰腺功能不全和骨髓功能障碍"]},"tr":{"name":"Shwachman-Diamond sendromu","synonyms":["SDS","Shwachman sendromu","Shwachman-Bodian-Diamond sendromu","Pankreas yetmezliği ve kemik iliği disfonksiyonu"]}},"xrefs":[{"source":"OMIM","code":"260400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617941","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"232885463"},{"source":"MONDO","code":"0009833","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000081003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272170","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4863","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":165661,"name":"Genetic pancreatic disease","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]},{"orpha":101937,"name":"Rare pancreatic disease","classifications":[152]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"DNAJC21","name":"DnaJ heat shock protein family (Hsp40) member C21","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28062395[PMID]","hgnc":"27030","ensembl":"ENSG00000168724","omim":"617048","loci":["5p13.2"]},{"symbol":"EFL1","name":"elongation factor like GTPase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28331068[PMID]","hgnc":"25789","ensembl":"ENSG00000140598","omim":"617538","loci":["15q25.2"]},{"symbol":"SBDS","name":"SBDS ribosome maturation factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301722[PMID]","hgnc":"19440","ensembl":"ENSG00000126524","omim":"607444","loci":["7q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.59,"area":"Italy","status":"Validated","source":"22887728[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"United Kingdom","status":"Validated","source":"ISBN:407002049[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Puerto rico","status":"Validated","source":"8637967[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Canada","status":"Validated","source":"11254457[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Worldwide","status":"Validated","source":"22491737[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-05","source":"20301722[PMID]_29939643[PMID]","terms":[{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410252","label":"Chronic neutropenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410289","label":"Hypoamylasemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040238","label":"Impaired neutrophil chemotaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012202","label":"Increased serum bile acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004905","label":"Low levels of vitamin A","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002594","label":"Pancreatic hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410255","label":"Transient neutropenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045027","label":"Abnormality of the thoracic cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001915","label":"Aplastic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000886","label":"Deformed rib cage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006461","label":"Proximal femoral epiphysiolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null}]}}