Details of Disease

General Information of Disease (ID: DISCBVO6)

Disease Name Congenital dyserythropoietic anemia type 1
Synonyms
type I congenital dyserythropoietic anaemia; anemia, dyserythropoietic, congenital type 1; type I congenital dyserythropoietic anemia; dyserythropoietic anemia, congenital type 1; CDA type I; congenital dyserythropoietic anemia type 1; CDA type 1; CDA I
Definition
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
Disease Hierarchy
DIS6FAT6: Congenital dyserythropoietic anemia
DISTW0J6: Congenital anemia
DISCBVO6: Congenital dyserythropoietic anemia type 1
Disease Identifiers
MONDO ID
MONDO_0020337
MESH ID
D000742
UMLS CUI
C0271933
MedGen ID
82891
Orphanet ID
98869
SNOMED CT ID
59548005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDAN1 OTCVZRG6 Supportive Autosomal recessive [1]
CDIN1 OTCAOZP1 Supportive Autosomal recessive [2]
CBX5 OT8VYY84 Strong Biomarker [3]
ERFE OTSES1HA Strong Genetic Variation [4]
SEC23B OT2NFSIQ Definitive Biomarker [5]
------------------------------------------------------------------------------------

References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2 Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28.
3 Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.Blood. 2011 Jun 23;117(25):6928-38. doi: 10.1182/blood-2010-09-308478. Epub 2011 Mar 1.
4 Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.Blood Cells Mol Dis. 2018 Jul;71:63-66. doi: 10.1016/j.bcmd.2018.03.002. Epub 2018 Mar 20.
5 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28.