DIAMOND-BLACKFAN ANEMIA 5

General Information (adopted from Orphanet):

Synonyms, Signs: DBA5
Number of Symptoms 8
OrphanetNr:
OMIM Id: 612528
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 18535205 IBIS 250 / 7739
2
(HPO:0000316) Hypertelorism 18535205 IBIS 644 / 7739
3
(HPO:0000369) Low-set ears 18535205 IBIS 372 / 7739
4
(HPO:0001263) Global developmental delay 18535205 IBIS 853 / 7739
5
(HPO:0001629) Ventricular septal defect 18535205 IBIS 316 / 7739
6
(HPO:0001882) Leukopenia 18535205 IBIS 51 / 7739
7
(HPO:0001972) Macrocytic anemia 18535205 IBIS 26 / 7739
8
(HPO:0012133) Erythroid hypoplasia 18535205 IBIS 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Using a candidate gene strategy combining high-resolution genomic mapping and gene expression microarray, Farrar et al. (2008) analyzed the chromosome 3q29-qter and 3q29 deletions, respectively, from a 9-year-old boy and an unrelated 7-week-old girl with Diamond-Blackfan anemia, and ...