DIAMOND-BLACKFAN ANEMIA 9
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DBA9 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
613308
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0001903) | Anemia | 289 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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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 3 mutations in the RPS10 gene in 5 ... |