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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P16070 | CD44 antigen | |
| P49257 | Protein ERGIC-53 | |
| Q10469 | Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| Q15437 | Protein transport protein Sec23B | |
| Q16706 | Alpha-mannosidase 2 | |
| Q8NI22 | Multiple coagulation factor deficiency protein 2 |
