KEGG   DISEASE: Congenital dyserythropoietic anemias (CDAs)Help
Entry
H00917                      Disease                                

Name
Congenital dyserythropoietic anemias (CDAs)
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. CDA type II is the most widely spread form. CDA type III is the rarest of the three classical types of CDA and both familial and sporadic cases have been reported.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00917  Congenital dyserythropoietic anemias (CDAs)
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Pure red cell aplasia
    3A73  Congenital dyserythropoietic anaemia
     H00917  Congenital dyserythropoietic anemias (CDAs)
BRITE hierarchy
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
(CDAN1A) CDAN1 [HSA:146059] [KO:K19531]
(CDAN1B) C15orf41 [HSA:84529]
(CDAN2) SEC23B [HSA:10483] [KO:K14006]
(CDAN4) KLF1 [HSA:10661] [KO:K09204]
Comment
(CDAII) SEC23B most frequent mutations: the R14W, E109K, R497C and I318T
Other DBs
ICD-11: 3A73
ICD-10: D64.4
OMIM: 224120 224100 613673 615631
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
PMID:21251457 (description, comment)
  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
  Authors
Kamiya T, Manabe A
  Title
Congenital dyserythropoietic anemia.
  Journal
Int J Hematol 92:432-8 (2010)
DOI:10.1007/s12185-010-0667-9
Reference
  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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