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GTR Home > Conditions/Phenotypes > Congenital dyserythropoietic anemia, type II

Congenital dyserythropoietic anemia, type II

Synonyms
CDA 2; Dyserythropoietic anemia, congenital type 2; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. [from ORDO]

Available tests

44 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CDA-II, CDAII, CDAN2, CWS7, HEMPAS, hSec23B, SEC23B
    Summary: SEC23 homolog B, COPII coat complex component

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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