OnlineIMD
ALDH18A1-related disease
(P5CS deficiency)
Synonym(s)
P5CS deficiency
Type
Disease
Gene
ALDH18A1
/ Aldehyde Dehydrogenase 18 Family Member A1
10q24.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Delta-1-pyrroline-5-carboxylate synthetase
Pathway
Ornithine, proline and hydroxyproline metabolism
Disease group(s)
1.7 Disorders of ornithine, proline and hydroxyproline metabolism
Child entries
P5CS-related De Barsy syndrome
P5CS deficiency, cutis laxa phenotype
P5CS deficiency, spastic paraplegia phenotype
P5CS deficiency, spastic paraplegia type 9A
P5CS deficiency, spastic paraplegia type 9B dominant
P5CS deficiency, spastic paraplegia type 9B recessive