LIPA

lipase A, lysosomal acid type
OMIM: 613497
PanelMode of inheritanceDetails
4 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
lysosomal acid lipase deficiency, Wolman disease, OMIM:278000, MONDO:0019148, Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149, Neonatal and Adult Cholestasis, cholestasis
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal hydrops, Wolman disease, 278000, Lysosomal Acid Lipase Deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholesteryl ester storage disease
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholesteryl ester storage disease OMIM:278000, Wolman disease OMIM:278000, lysosomal acid lipase deficiency MONDO:0010204