ALDOB

aldolase, fructose-bisphosphate B
OMIM: 612724
PanelMode of inheritanceDetails
4 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
acute liver failure, Neonatal and Adult Cholestasis, Fructose intolerance, hereditary
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEREDITARY FRUCTOSE INTOLERANCE 229600
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fructose intolerance, hereditary 229600
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary fructose intolerance, Hereditary fructose intolerance (Disorders of fructose metabolism), acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation