KEGG   DISEASE: Congenital dyserythropoietic anemia
Entry
H00917                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A73  Congenital dyserythropoietic anaemia
    H00917  Congenital dyserythropoietic anemia
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]
Other DBs
ICD-11: 3A73
ICD-10: D64.4
OMIM: 224120 615631 224100 105600 619789 613673
Reference
  Authors
Iolascon A, Russo R, Delaunay J
  Title
Congenital dyserythropoietic anemias.
  Journal
Curr Opin Hematol 18:146-51 (2011)
DOI:10.1097/MOH.0b013e32834521b0
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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

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