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Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive(CDAN3B)

MedGen UID:
1800829
Concept ID:
C5676940
Disease or Syndrome
Synonym: CDA, TYPE IIIb
 
Gene (location): RACGAP1 (12q13.12)
 
Monarch Initiative: MONDO:0030711
OMIM®: 619789

Definition

Congenital dyserythropoietic anemia type IIIb (CDAN3B) is an autosomal recessive disorder characterized macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis (summary by Hernandez et al., 2023). For a general description and a discussion of genetic heterogeneity of CDA, see CDAN1 (224120). [from OMIM]

Clinical features

From HPO
Macrocytic anemia
MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Macrocytic dyserythropoietic anemia
MedGen UID:
870729
Concept ID:
C4025183
Disease or Syndrome

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