OnlineIMD
Saposin deficiency
Type
Disease
External link(s)
Orphanet
Gene
PSAP
/ Prosaposin
10q22.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Prosaposin
Disease group(s)
20.1 Disorders of sphingolipid degradation
Child entries
Saposin A deficiency
Saposin B deficiency
Saposin C deficiency
Combined saposin deficiency