DIAMOND-BLACKFAN ANEMIA 8

General Information (adopted from Orphanet):

Synonyms, Signs: DBA8
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612563
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 1/1 [HPO:probinson] 19061985 IBIS 26 / 7739
2
(HPO:0005518) Erythrocyte macrocytosis 1/1 [HPO:probinson] 19061985 IBIS 13 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 1/1 [HPO:probinson] 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified a splice site mutation in the RP7 gene (603658.0001) in 1 proband, who had no associated malformations. The ...