BLOC1S3 and Diamond-Blackfan anemia: In humans, the haploinsufficiency or point mutations of RP genes leads to a range of ribosomopathies (Paolini et al., 2017), including Diamond-Blackfan anemia (DBA) (Ulirsch et al., 2018), and has been linked to an increased susceptibility to certain cancers, such as myelodysplastic syndromes and acute myeloid leukemia (Vlachos et al., 2012; Goudarzi and Lindström, 2016).