Congenital dyserythropoietic anemia type IV

General Information (adopted from Orphanet):

Synonyms, Signs: CDA IV
CDAN4
CDA due to KLF1 mutation
Congenital dyserythropoietic anemia due to KLF1 mutation
CDA type IV
Congenital dyserythropoietic anemia type 4
CDA type 4
Number of Symptoms 17
OrphanetNr: 293825
OMIM Id: 613673
ICD-10: D64.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001789) Hydrops fetalis 63 / 7739
2
 (HPO:0002240) Hepatomegaly 467 / 7739
3
 (HPO:0001744) Splenomegaly 337 / 7739
4
 (HPO:0004322) Short stature 1232 / 7739
5
 (HPO:0001639) Hypertrophic cardiomyopathy rare [HPO:skoehler] 137 / 7739
6
 (HPO:0001903) Anemia 289 / 7739
7
 (HPO:0012132) Erythroid hyperplasia 4 / 7739
8
 (HPO:0001923) Reticulocytosis 28 / 7739
9
 (HPO:0010972) Anemia of inadequate production 10 / 7739
10
 (HPO:0002904) Hyperbilirubinemia 32 / 7739
11
 (OMIM) Circulating orthochromatic erythroblasts 1 / 7739
12
 (OMIM) Erythroblasts show atypical cytoplasmic inclusions 1 / 7739
13
 (OMIM) Decreased expression of CD44 and AQP1 on red cells 1 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (HPO:0003577) Congenital onset 133 / 7739
16
 (OMIM) Increased fetal hemoglobin 5 / 7739
17
 (OMIM) Nucleated peripheral red cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital dyserythropoietic anemia-4 is an autosomal dominant inherited 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 ...
Clinical Description OMIM Wickramasinghe et al. (1991) described an 8-year-old Danish girl who was severely anemic and hydropic at birth due to a novel form of congenital dyserythropoietic anemia. She had a moderate normochromic anemia, increased levels of fetal hemoglobin (HbF) ...
Molecular genetics OMIM In 2 unrelated patients with congenital dyserythropoietic anemia-4, one of whom was the patient reported by Wickramasinghe et al. (1991), Arnaud et al. (2010) identified a heterozygous de novo mutation in the KLF1 gene (E325K; 600599.0006). The mutant ...