DIAMOND-BLACKFAN ANEMIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: DBA3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 610629
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001972) Macrocytic anemia 17186470 IBIS 26 / 7739
2
(HPO:0001896) Reticulocytopenia 17186470 IBIS 12 / 7739
3
(HPO:0011904) Persistence of hemoglobin F 17186470 IBIS 5 / 7739
4
(HPO:0005518) Erythrocyte macrocytosis 17186470 IBIS 13 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of a family segregating Diamond-Blackfan anemia, Gazda et al. (2006) detected no mutations in the RPS20 (603682) or RPL7 (604166) genes in the critical region on 8q, but they identified a heterozygous nonsense mutation in ...