{"orpha":231226,"name":"Unstable beta globin chain variant disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant beta-thalassemia","Inclusion body beta-thalassemia"],"definition":"Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231226/","orphanet_url":"https://www.orpha.net/en/disease/detail/231226","names":{"fr":{"name":"Anémie par hémoglobine instable due à la chaîne beta globine","synonyms":["Bêta-thalassémie autosomique dominante","Bêta-thalassémie à corps d'inclusion","Thalassémie bêta dominante","Thalassémie bêta à corps d'inclusion"],"definition":"La bêta-thalassémie (BT) dominante est une forme de BT dans laquelle l'anémie est modérée à sévère."},"de":{"name":"Instabile Beta-Globinketten-Variante","synonyms":["Beta-Thalassämie mit Einschlusskörpern","Beta-Thalassämie, autosomal-dominante"],"definition":"Die Dominante Beta-Thalassämie, eine Form der Beta-Thalassämie (s. dort), geht mit moderater bis schwerer Anämie einher."},"es":{"name":"Enfermedad por inestabilidad de la variante de la cadena beta-globina inestable","synonyms":["Beta-talasemia autosómica dominante","Beta-talasemia con cuerpos de inclusión"],"definition":"La beta-talasemia dominante es una forma de BT (ver este término) que se acompaña de anemia moderada o intensa."},"it":{"name":"Malattia da variante instabile della catena della beta-globina","synonyms":["Beta talassemia autosomica dominante","Beta talassemia con corpi di inclusione"],"definition":"La beta talassemia dominante è una forma di beta talassemia (si veda questo termine) caratterizzata da anemia moderata-grave."},"nl":{"name":"Aandoening door onstabiele variant van bèta-globineketen","synonyms":["Bèta-thalassemie met inclusielichaampjes","'Inclusion body'-bètathalassemie","Autosomaal dominante bèta-thalassemie"],"definition":"Een vorm van bèta-thalassemie, resulterend in matige tot ernstige anemie."},"pt":{"name":"Doença da variante instável da cadeia beta da globina","synonyms":["Beta-talassemia beta autossómica dominante","Beta-talassémia de corpos de inclusão"],"definition":"A beta-talassemia dominante é uma forma de beta-talassemia (ver este termo) que resulta numa anemia moderada a grave."},"pl":{"name":"Choroba z niestabilnym wariantem łańcucha beta-globiny","synonyms":["Beta-talasemia z ciałkami wtrętowymi"]},"cs":{"name":"Dominantní beta-talasémie","synonyms":["Autosomal dominant beta-thalassemia","Inclusion body beta-thalassemia"]},"uk":{"name":"Домінантна бета-таласемія","synonyms":["Бета-таласемія з інклюзивними тілами"],"definition":"Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia."},"zh":{"name":"显性β-地中海贫血","synonyms":["包涵体β-地中海贫血"],"definition":"显性β地中海贫血是一种β地中海贫血（见该词条），导致中度至重度贫血。"},"tr":{"name":"Dominant beta-talasemi","synonyms":["İnklüzyon cisimcikli beta-talasemi"]}},"xrefs":[{"source":"OMIM","code":"603902","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1598128703"},{"source":"MONDO","code":"0011381","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565834","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858990","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99139,"name":"OBSOLETE: Unstable hemoglobin disease","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275749,"name":"Beta-thalassemia and related disorders","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21886666[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-28","source":"20492708[PMID]_20301599[PMID]_27811859[PMID]","terms":[{"hpo":"HP:0011904","label":"Persistence of hemoglobin F","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011905","label":"Reduced hemoglobin A","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025547","label":"Decreased mean corpuscular hemoglobin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200123","label":"Chronic hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009004","label":"Hypoplasia of the musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001722","label":"High-output congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very rare (<4-1%)","criteria":null}]}}