Diamond-Blackfan anemia
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs1060503527 | 0 |
| rs1060503688 | 0 |
| rs1131017 | 0 |
| rs147508369 | 0 |
Diamond-Blackfan anemia, originally known as congenital hypoplastic anemia, is a rare, dominantly inherited bone marrow failure syndrome. It is estimated to occur in 1 out of 100,000 births, and arises primarily from mutations in certain ribosomal protein genes.GHR
A 2018 review of the genetics of Diamond-Blackfan anemia (DBA) summarized the genes known to potentially harbor causative mutations as follows [PMID 30503522]:
- 21 genes clearly associated with DBA:
