Details of Disease

General Information of Disease (ID: DIS6FAT6)

Disease Name Congenital dyserythropoietic anemia
Synonyms dyserythropoietic anemia, congenital; CDA; congenital dyshaematopoietic anemia; congenital dyshaematopoietic anaemia; anemia, congenital dyserythropoietic
Definition
Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DIS6FAT6: Congenital dyserythropoietic anemia
Disease Identifiers
MONDO ID
MONDO_0019403
UMLS CUI
C0002876
MedGen ID
8064
Orphanet ID
85
SNOMED CT ID
52951008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDA TTQ12RK moderate Genetic Variation [1]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDAN1 OTCVZRG6 Limited Autosomal recessive [2]
RPS19 OTBKGP48 Limited Biomarker [3]
SEC23B OT2NFSIQ Limited Autosomal recessive [2]
TSPYL2 OTGGW2EF moderate Biomarker [4]
GANC OTLJSCYV Strong Biomarker [5]
GATA1 OTX1R7O1 Strong Biomarker [6]
KLF1 OT1FK08U Strong Biomarker [7]
LPIN2 OTRRTMXX Strong Biomarker [8]
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⏷ Show the Full List of 8 DOT(s)

References

1 CDA deficiency as a possible culprit for life-threatening toxicities after cytarabine plus 6-mercaptopurine therapy: pharmacogenetic investigations.Pharmacogenomics. 2012 Mar;13(4):393-7. doi: 10.2217/pgs.11.175.
2 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
3 Managing the Unusual Causes of Fetal Anemia.Fetal Diagn Ther. 2020;47(2):156-164. doi: 10.1159/000501554. Epub 2019 Sep 10.
4 Congenital dyserythropoietic anemias.Curr Opin Hematol. 2011 May;18(3):146-51. doi: 10.1097/MOH.0b013e32834521b0.
5 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002 Dec;71(6):1467-74. doi: 10.1086/344781. Epub 2002 Nov 14.
6 Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.J Pediatr Hematol Oncol. 2018 Oct;40(7):e421-e423. doi: 10.1097/MPH.0000000000001207.
7 A Krppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity.Mol Cell Biol. 2020 Feb 12;40(5):e00444-19. doi: 10.1128/MCB.00444-19. Print 2020 Feb 12.
8 Efficacy of anti-IL-1 treatment in Majeed syndrome.Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.