{"orpha":293825,"name":"Autosomal dominant KLF1-related dyserythropoietic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital dyserythropoietic anemia type IVa","Congenital dyserythropoietic anemia type 4a","CDA type IVa","CDA type 4a"],"definition":"A form of congenital dyserythropoietic anemia (CDA) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth, requiring repeated transfusions. The majority of affected individuals experience severe hemolytic anemia, often accompanied by a normal or slightly elevated reticulocyte count, hepatosplenomegaly, hyperbilirubinemia, and persistence of fetal hemoglobin. Hypertrophic cardiomyopathy and occasional dysmorphic features, including large anterior fontanel, hypertelorism, micropenis, and hypospadias, have also been reported. All documented cases to date share the same dominant-negative missense variant, E325K, in the <i>KLF1</i> gene (19p13.2).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293825/","orphanet_url":"https://www.orpha.net/en/disease/detail/293825","names":{"fr":{"name":"Anémie dysérythropoïétique autosomique dominante associée à KLF1","synonyms":["CDA type 4a","Anémie dysérythropoïétique congénitale type IVa","Anémie dysérythropoïétique congénitale type 4a","CDA type IVa"],"definition":"Forme d'anémie dysérythropoïétique congénitale (ADC) caractérisée par une érythropoïèse inefficace et une hémolyse entraînant une anémie sévère à la naissance, nécessitant des transfusions répétées. La majorité des personnes touchées souffrent d'une anémie hémolytique sévère, souvent accompagnée d'un taux de réticulocytes normal ou légèrement élevé, d'une hépatosplénomégalie, d'une hyperbilirubinémie et d'une persistance de l'hémoglobine foetale. Une cardiomyopathie hypertrophique et, dans certains cas, une dysmorphie se caractérisant par une fontanelle antérieure large et un hypertélorisme. Un micropénis et un hypospadias ont également été décrits. Tous les cas documentés à ce jour partagent la même mutation faux-sens dominante négative, E325K, dans le gène <i>KLF1</i> (19p13.2)."},"de":{"name":"KLF1-assoziierte dyserythropoetische Anämie, autosomal-dominante","synonyms":["CDA Typ IVa","CDA Typ 4a","Anämie, dyserythropoetische kongenitale, Typ IVa","Kongenitale dyserythropoetische Anämie Typ 4a"],"definition":"Eine Form der kongenitalen dyserythropoetischen Anämie (CDA), die durch eine ineffektive Erythropoese und Hämolyse gekennzeichnet ist und bei der Geburt zu einer schweren Anämie führt, die wiederholte Transfusionen erfordert. Bei der Mehrheit der Betroffenen kommt es zu einer schweren hämolytischen Anämie, die oft mit einer normalen oder leicht erhöhten Retikulozytenzahl, Hepatosplenomegalie, Hyperbilirubinämie und Persistenz von fetalem Hämoglobin einhergeht. Auch eine hypertrophe Kardiomyopathie und gelegentliche dysmorphe Merkmale wie eine große anteriore Fontanelle, Hypertelorismus, Mikropenis und Hypospadie wurden berichtet. Alle bisher dokumentierten Fälle weisen dieselbe dominant-negative Missense-Variante, E325K, im <i>KLF1</i>-Gen (19p13.2) auf."},"es":{"name":"Anemia diseritropoyética asociada al gen KLF1 autosómica dominante","synonyms":["ADC tipo 4a","ADC tipo IVa","Anemia diseritropoyética congénita tipo IVa","Anemia diseritropoyética congénita tipo 4a","CDA tipo 4a","CDA tipo IVa"],"definition":"Es una forma de anemia diseritropoyética congénita (ADC) caracterizada por una eritropoyesis y hemólisis ineficaces que provoca anemia grave al nacer, requiriendo transfusiones repetidas. La mayoría de los pacientes presenta anemia hemolítica grave, a menudo acompañada de un recuento de reticulocitos normal o ligeramente elevado, hepatoesplenomegalia, hiperbilirrubinemia y persistencia de la hemoglobina fetal. También se ha descrito miocardiopatía hipertrófica y características dismórficas ocasionales, como ensanchamiento de la fontanela anterior, hipertelorismo, micropene e hipospadias. Todos los casos documentados hasta la fecha comparten la misma variante de cambio de sentido dominante-negativa, E325K, en el gen <i>KLF1</i> (19p13.2)."},"it":{"name":"Anemia diseritropoietica autosomica dominante correlata a KLF1","synonyms":["CDA tipo 4a","Anemia diseritropoietica congenita, tipo 4","CDA tipo Iva","CDA da mutazione di KLF1","Anemia diseritropoietica congenita di tipo 4a","Anemia diseritropoietica congenita di tipo IVa"],"definition":"L'anemia diseritropoietica congenita tipo IV (CDA IV) è una forma di CDA (si veda questo termine), individuata recentemente, caratterizzata da eritropoiesi inefficace ed emolisi che provoca anemia grave alla nascita."},"nl":{"name":"Autosomaal dominante KLF1-gerelateerde dyserytropoëtische anemie","synonyms":["CDA type IVa","CDA type 4a","Congenitale dyserytropoëtische anemie type IVa","Congenitale dyserytropoëtische anemie type 4a"],"definition":"Een vorm van congenitale dyserytropoëtische anemie (CDA), gekenmerkt door ineffectieve erytropoëse en hemolyse die leiden tot ernstige anemie bij de geboorte, met nood aan herhaaldelijke transfusies. De meerderheid van de getroffen individuen ervaart ernstige hemolytische anemie, vaak in combinatie van een normaal of licht verhoogd aantal reticulocyten, hepatosplenomegalie, hyperbilirubinemie, en persisterend foetaal hemoglobine. Hypertrofische cardiomyopathie en occasioneel dysmorfe kenmerken, waaronder groot voorste fontanel, hypertelorisme, micropenis, en hypospadie, werden ook reeds gerapporteerd. Alle gevallen die tot op heden werden gedocumenteerd, delen dezelfde dominant-negatieve missense variant, E325K, in het gen <i>KLF1</i> (19p13.2)."},"pt":{"name":"Anemia diseritropoiética congénita por mutação em KLF1","synonyms":["CDA por mutação em KLF1"]},"pl":{"name":"Wrodzona niedokrwistość dyserytropoetyczna typu IV","synonyms":["CDA IV","CDA typu 4","CDA typu IV","CDA z powodu mutacji KLF1","CDAN4","Wrodzona niedokrwistość dyserytropoetyczna typu 4","Wrodzona niedokrwistość dyserytropoetyczna z powodu mutacji KLF1"],"definition":"Wrodzona niedokrwistość dyserytropoetyczna typu IV (CDA IV) jest nowo wykrytą formą CDA charakteryzującą się upośledzoną erytropoezą i hemolizą prowadzącą przy urodzeniu do ciężkiej niedokrwistości."},"cs":{"name":"Kongenitální dyserytropoetická anémie, typ IV","synonyms":["CDA IV","CDA, typ 4","CDA, typ IV","CDAN4","Vrozená dyserytropoetická anémie, typ 4","CDA způsobená mutací KLF1","Vrozená dyserytropoetická anémie způsobená mutací KLF1"]},"uk":{"name":"Вроджена дизеритропоетична анемія, тип IV","synonyms":["CDA через мутацію KLF1","CDA IV","CDA тип 4","CDA тип IV","CDAN4","Вроджена дизеритропоетична анемія внаслідок мутації KLF1","Вроджена дизеритропоетична анемія типу 4"],"definition":"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth."},"zh":{"name":"先天性红细胞生成障碍性贫血IV型","synonyms":["KLF1基因突变所致先天性红细胞生成障碍性贫血"],"definition":"IV型先天性红细胞生成障碍性贫血（CDA IV）是一种新发的CDA（见本术语），其特征是无效红细胞生成和溶血，导致出生时严重贫血。"},"tr":{"name":"Doğumsal dizeritropoietik anemi tip IV","synonyms":["CDAN4","CDA IV","CDA tip 4","CDA tip IV","KLF1 mutasyonuna bağlı CDA","Doğumsal diseritropoetik anemi tip 4","KLF1 mutasyonuna bağlı doğumsal diseritropoetik anemi"]}},"xrefs":[{"source":"OMIM","code":"613673","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A73","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150926","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":85,"name":"Congenital dyserythropoietic anemia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"KLF1","name":"KLF transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6345","ensembl":"ENSG00000105610","omim":"600599","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23522491[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23522491[PMID]"}],"phenotypes":null}