DIAMOND-BLACKFAN ANEMIA 7

General Information (adopted from Orphanet):

Synonyms, Signs: DBA7
Number of Symptoms 8
OrphanetNr:
OMIM Id: 612562
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:0000076) Vesicoureteral reflux Occasional [HPO:probinson] 19061985 IBIS 94 / 7739
2
(HPO:0000085) Horseshoe kidney Occasional [HPO:probinson] 19061985 IBIS 39 / 7739
3
(HPO:0010487) Small hypothenar eminence 19061985 IBIS 4 / 7739
4
(HPO:0001636) Tetralogy of Fallot Occasional [HPO:probinson] 19061985 IBIS 104 / 7739
5
(HPO:0005518) Erythrocyte macrocytosis 19061985 IBIS 13 / 7739
6
(HPO:0001972) Macrocytic anemia 19061985 IBIS 26 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(HPO:0001199) Triphalangeal thumb 19061985 IBIS 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gazda et al. (2008) reviewed medical records of DBA7 patients and found that associated physical malformations, predominantly involving the thumb, were seen in 12 of the 18 patients and included triphalangeal thumbs, small extra thumbs, and flat thenar ...
Molecular genetics OMIM Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified 11 different mutations in the RPL11 gene (604175) in 13 probands and 5 additional family members (see, e.g., ...