Congenital dyserythropoietic anemia type III

General Information (adopted from Orphanet):

Synonyms, Signs: ERYTHRORETICULOSIS, HEREDITARY BENIGN
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III
CDA III
ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS
CDAN3
CDA type III
Congenital dyserythropoietic anemia type 3
CDA type 3
Number of Symptoms 11
OrphanetNr: 98870
OMIM Id: 105600
ICD-10: D64.4
UMLs: C0271934
MeSH:
MedDRA:
Snomed: 26409005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital dyserythropoietic anemia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0012543) Hemosiderinuria 1 / 7739
2
(HPO:0000952) Jaundice 105 / 7739
3
(HPO:0001972) Macrocytic anemia 26 / 7739
4
(HPO:0004810) Congenital hypoplastic anemia 4 / 7739
5
(MedDRA:10025382) Macrocytosis 3 / 7739
6
(OMIM) Giant bone marrow multinuclear erythroblasts 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Grossly disorganized erythroblast nuclei 1 / 7739
9
(OMIM) Highly polyploid giant mononucleate erythroblasts 1 / 7739
10
(OMIM) Intraerythroblastic inclusions 1 / 7739
11
(OMIM) Elevated levels of serum thymidine kinase 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital dyserythropoietic anemia type III is a rare disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow (Lind et al., 1995).

For a ...

Clinical Description OMIM In a mother and all 3 of her children, Wolff and Van Hofe (1951) described mild anemia, macrocytosis in the peripheral blood, and giant multinuclear erythroblasts in the bone marrow.

Bergstrom and Jacobsson (1962) reported 15 ...