DIAMOND-BLACKFAN ANEMIA 4

General Information (adopted from Orphanet):

Synonyms, Signs: DBA4
Number of Symptoms 4
OrphanetNr:
OMIM Id: 612527
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:0012133) Erythroid hypoplasia 20378560 IBIS 5 / 7739
2
(HPO:0001896) Reticulocytopenia 20378560 IBIS 12 / 7739
3
(HPO:0001972) Macrocytic anemia 20378560 IBIS 26 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Cmejla et al. (2007) screened the RPS17 gene in 124 Czech patients with Diamond-Blackfan anemia, 6 of whom were already known to carry a heterozygous mutation in the RPS19 gene (603474), and identified a heterozygous mutation abolishing the ...