Genetics

Not all of the genes that cause CDA have been identified, although some have:

CDA-1:

This can be due to mutations in genes called CDAN1 or c15orf41. Some patients with very clear CDA-1 do not have mutations in either of those genes, suggesting at least one more gene could be responsible for CDA-1.

CDA-2:

This can be due to mutations in a gene called SEC23B. Some patients with very clear CDA-2 do not have mutations in that gene, suggesting at least one more gene could be responsible for CDA-2.

CDA-3:

This can be due to mutations in a gene called KIF23. Some patients with very clear CDA-3 do not have mutations in that gene, suggesting at least one more gene could be responsible for CDA-1.

Other subtypes of CDAs:

These can be due to mutations in genes called GATA1 or KLF1. Some patients with other subtypes of CDA do not have mutations in either of those genes, suggesting at least one more gene could be responsible for unclassified CDA.