H00917 | |
H number | H00917 |
Name | Congenital dyserythropoietic anemia |
Description | Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid hematopoietic cell lineages are morphologically normal. Three types of the disease are known as type I, II and III, and there is also a huge group of congenital forms that cannot be included with any of the three canonical types. |
Category | Hematologic disease |
Network | - |
Gene | (CDAIA) CDAN1 [HSA:146059] [KO:K19531] (CDAIB) CDIN1 [HSA:84529] [KO:K24865] (CDAII) SEC23B [HSA:10483] [KO:K14006] (CDAIIIA) KIF23 [HSA:9493] [KO:K17387] (CDAIIIB) RACGAP1 [HSA:29127] [KO:K16733] (CDAIV) KLF1 [HSA:10661] [KO:K09204] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3A73 ICD-10: D64.4 OMIM: 224120 615631 224100 105600 619789 613673 |
Reference | PMID:21378561 AUTHORS Iolascon A, Russo R, Delaunay J TITLE Congenital dyserythropoietic anemias. JOURNAL Curr Opin Hematol 18:146-51 (2011) DOI:10.1097/MOH.0b013e32834521b0 PMID:21251457 AUTHORS Iolascon A, Russo R, Esposito MR, Piscopo C, Asci R, De Falco L, Di Noce F TITLE Congenital dyserythropoietic anaemias: new acquisitions. JOURNAL Blood Transfus 9:278-80 (2011) DOI:10.2450/2010.0085-10 PMID:12434312 (CDAN1) AUTHORS Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Cretien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rossler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H TITLE Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. JOURNAL Am J Hum Genet 71:1467-74 (2002) DOI:10.1086/344781 PMID:23716552 (CDIN1) AUTHORS Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ TITLE Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. JOURNAL Haematologica 98:1383-7 (2013) DOI:10.3324/haematol.2013.089490 PMID:19561605 (SEC23B) AUTHORS Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H TITLE Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. JOURNAL Nat Genet 41:936-40 (2009) DOI:10.1038/ng.405 PMID:23570799 (KIF23) AUTHORS Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandstrom H, Wahlin A, Mishima M, Golovleva I TITLE Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. JOURNAL Blood 121:4791-9 (2013) DOI:10.1182/blood-2012-10-461392 PMID:34818416 (RACGAP1) AUTHORS Wontakal SN, Britto M, Zhang H, Han Y, Gao C, Tannenbaum S, Durham BH, Lee MT, An X, Mishima M TITLE RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease. JOURNAL Blood 139:1413-1418 (2022) DOI:10.1182/blood.2021012334 PMID:21055716 (KLF1) AUTHORS Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP TITLE A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. JOURNAL Am J Hum Genet 87:721-7 (2010) DOI:10.1016/j.ajhg.2010.10.010 |