KEGG DISEASE: Congenital dyserythropoietic anemia

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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H00917  Congenital dyserythropoietic anemia

Network

nt06541 Cytoskeleton in neurons

Gene

(CDAN1A) CDAN1 [HSA:146059] [KO:K19531]
(CDAN1B) CDIN1 [HSA:84529] [KO:K24865]
(CDAN2) SEC23B [HSA:10483] [KO:K14006]
(CDAN3A) KIF23 [HSA:9493] [KO:K17387]
(CDAN3B) RACGAP1 [HSA:29127] [KO:K16733]
(CDAN4A/4B) KLF1 [HSA:10661] [KO:K09204]

Other DBs

ICD-11:

3A73

ICD-10:

D64.4

OMIM:

224120 615631 224100 105600 619789 613673 620969

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

Reference

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

Reference

PMID:12434312 (CDAN1A)

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 (CDAN1B)

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 (CDAN2)

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 (CDAN3A)

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 (CDAN3B)

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 (CDAN4A)

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

Reference

PMID:24443441 (CDAN4B)

Authors

Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR

Title

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Journal

Blood 123:1586-95 (2014)
DOI:10.1182/blood-2013-09-526087

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (7)   
   OMIM (7)   
Gene (12)   
   KEGG ORTHOLOGY (6)   
   KEGG GENES (6)   
Literature (9)   
   PubMed (9)   
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