familial chylomicronemia syndrome

[galyea123]

Hi! While working on a NORD report for familial chylomicronemia syndrome I noticed that you include 5 conditions as subtypes:
• familial chylomicronemia syndrome (5)
o chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
o familial apolipoprotein C-II deficiency
o familial lipoprotein lipase deficiency
o hyperlipoproteinemia, type 1D Familial GPIHBP1 deficiency
o lipase deficiency, combined
I would like to request the following:
• Add Familial lipase maturation factor 1 deficiency (as per ORPHA:535453) to the term lipase deficiency, combined
• Add the term Familial apolipoprotein A5 deficiency ORPHA:530849
Thank you! Gioconda Alyea.
PS: Please note that you list chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase which is only in OMIM (only one publication and nothing else).