congenital dyserythropoietic anemia type II

Summary
Synonym
  • CDA II
  • CDA type 2
  • CDA type II
  • CDAN2
  • Congenital dyserythropoietic anaemia type 2
  • Congenital dyserythropoietic anemia type 2
  • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
  • SEC23B-CDG
  • congenital dyserythropoietic anaemia type II
Definition
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.
Super Class
autosomal recessive disease congenital dyserythropoietic anemia
External Links
Disease Ontology
DOID:0111401
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
960 CD44 CD44 molecule (IN blood group)
2539 G6PD glucose-6-phosphate dehydrogenase
3998 LMAN1 lectin, mannose binding 1
4124 MAN2A1 mannosidase alpha class 2A member 1
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
90411 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024