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GTR Home > Conditions/Phenotypes > Congenital dyserythropoietic anemia type 4

Congenital dyserythropoietic anemia type 4

Synonyms
CDA, TYPE IV; Congenital dyserythropoietic anemia, type IV
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Congenital dyserythropoietic anemia type IV (CDAN4) is an autosomal dominant red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: EKLF, EKLF/KLF1, KLF1
    Summary: KLF transcription factor 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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