{"orpha":125,"name":"Bloom syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BSyn"],"definition":"Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-125/","orphanet_url":"https://www.orpha.net/en/disease/detail/125","names":{"fr":{"name":"Syndrome de Bloom","synonyms":["BSyn"],"definition":"Maladie rare associée à un retard de croissance pré- et post-natale, à une éruption érythémateuse télangiectasique affectant le visage et d'autres zones exposées au soleil, à une résistance à l'insuline et à une prédisposition aux cancers précoces et récurrents affectant plusieurs systèmes organiques."},"de":{"name":"Bloom-Syndrom","synonyms":["BS"],"definition":"Das Bloom-Syndrom (BSyn) ist eine seltene Erkrankung, die mit prä- und postnatalem Wachstumsmangel, einem telangiektatischen erythematösen Ausschlag im Gesicht und anderen sonnenexponierten Bereichen, Insulinresistenz und einer Prädisposition für früh einsetzenden und wiederkehrenden Krebs in verschiedenen Organsystemen einhergeht."},"es":{"name":"Síndrome de Bloom","synonyms":["BSyn"],"definition":"Es un trastorno poco frecuente asociado con deficiencia de crecimiento prenatal y posnatal, una erupción eritematosa telangiectásica en la cara y en otras áreas expuestas al sol, resistencia a la insulina y predisposición al cáncer de inicio temprano y recurrente en múltiples sistemas orgánicos."},"it":{"name":"Sindrome di Bloom","synonyms":["BSyn"],"definition":"La sindrome di Bloom è una malattia rara caratterizzata da ritardo della crescita pre- e postnatale, eritema telangectasico sul viso e sulle altre zone esposte al sole, insulino-resistenza e predisposizione ai tumori ricorrenti e ad esordio precoce in diversi organi."},"nl":{"name":"Syndroom van Bloom","synonyms":["BSyn"],"definition":"Syndroom van Bloom is een zeldzame stoornis geassocieerd met pre- en postnatale groeideficiëntie, een telangiëctatische erythemateuze uitslag in het gezicht en andere gebieden die worden blootgesteld aan de zon, insulineresistentie en predispositie voor vroeg aanvangende en recurrente kanker van meerdere orgaansystemen."},"pt":{"name":"Síndrome Bloom"},"pl":{"name":"Zespół Blooma","synonyms":["BSyn"],"definition":"Zespół Blooma jest rzadką chorobą związaną z pre- i postnatalnym niedoborem wzrostu, teleangiektatyczną wysypką rumieniową na twarzy i innych obszarach narażonych na działanie słońca, insulinoopornością oraz predyspozycją do wczesnego występowania i nawrotów nowotworów wielu narządów."},"cs":{"name":"Bloomův syndrom","synonyms":["BSyn"]},"uk":{"name":"Синдром Блума","synonyms":["BSyn"],"definition":"Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems."},"zh":{"name":"Bloom综合征","synonyms":["B综合征"]},"tr":{"name":"Bloom sendromu","synonyms":["BSyn"]}},"xrefs":[{"source":"OMIM","code":"210900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"4A01.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1838213890"},{"source":"MONDO","code":"0008876","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0005859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"915","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073032","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":183490,"name":"Genetic photodermatosis","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":68347,"name":"Tumor of hematopoietic and lymphoid tissues","classifications":[194,202]}],"children":[],"genes":[{"symbol":"BLM","name":"BLM RecQ like helicase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301572[PMID]","hgnc":"1058","ensembl":"ENSG00000197299","omim":"604610","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.08,"area":"Specific population","status":"Validated","source":"10464606[PMID]_9758720[PMID]_10464671[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"20301572[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-26","source":"20301572[PMID]_29098565[PMID]_29056561[PMID]","terms":[{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008887","label":"Adipose tissue loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031393","label":"Abnormal proportion of CD8 T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040195","label":"Decreased head circumference","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025615","label":"Abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006721","label":"Acute lymphoblastic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006758","label":"Malignant genitourinary tract tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100273","label":"Neoplasm of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001818","label":"Paronychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020105","label":"Severe toxoplasmosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032170","label":"Severe varicella zoster infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Very rare (<4-1%)","criteria":null}]}}