OnlineIMD
Sedoheptulose kinase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SHPK
/ Sedoheptulokinase
17p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Sedoheptulokinase
Pathway
Pentose metabolism
Disease group(s)
3.5 Disorders of pentose phosphate metabolism