DIAMOND-BLACKFAN ANEMIA 10

General Information (adopted from Orphanet):

Synonyms, Signs: DBA10
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613309
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:0000086) Ectopic kidney rare [HPO:skoehler] 29 / 7739
2
(HPO:0000272) Malar flattening rare [HPO:skoehler] 277 / 7739
3
(HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
4
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
5
(HPO:0000453) Choanal atresia rare [HPO:skoehler] 76 / 7739
6
(HPO:0005321) Mandibulofacial dysostosis rare [HPO:skoehler] 7 / 7739
7
(HPO:0008551) Microtia rare [HPO:skoehler] 98 / 7739
8
(HPO:0000405) Conductive hearing impairment rare [HPO:skoehler] 164 / 7739
9
(HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
10
(HPO:0000413) Atresia of the external auditory canal rare [HPO:skoehler] 32 / 7739
11
(HPO:0000358) Posteriorly rotated ears rare [HPO:skoehler] 163 / 7739
12
(HPO:0000776) Congenital diaphragmatic hernia rare [HPO:skoehler] 36 / 7739
13
(HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
14
(HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
15
(HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
16
(HPO:0001972) Macrocytic anemia 26 / 7739
17
(HPO:0001896) Reticulocytopenia 12 / 7739
18
(HPO:0002880) Respiratory difficulties rare [HPO:skoehler] 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort of 117 patients with Diamond-Blackfan anemia who were negative for mutation in 7 known DBA genes and identified 9 mutations in the RPS26 gene in 12 ...