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Parent Node:
expandcataract associated with a metabolic disease (MONDO:0020228)
Parent Node:
expanddisorder of galactose metabolism (MONDO:0017690)
Parent Node:
expandgenetic systemic or rheumatologic disease (MONDO:0017133)
Parent Node:
expandmetabolic disease with cataract (MONDO:0020280)
Parent Node:
expandnephropathy secondary to a storage or other metabolic disease (MONDO:0019743)
..Starting node
..expandgalactosemia ()

       Child Nodes:
........expandclassic galactosemia ()
........expandgalactokinase deficiency ()
........expandgalactose epimerase deficiency ()



 Sister Nodes: 
..expandadenine phosphoribosyltransferase deficiency ()
..expandalpha 1-antitrypsin deficiency ()
..expandamelogenesis imperfecta type 1G ()
..expandautosomal recessive infantile hypercalcemia ()
..expandcongenital disorder of glycosylation with nephropathy as a major feature ()
..expandFabry disease ()
..expandfamilial renal glucosuria ()
..expandgalactosemia ()
..expandglycogen storage disease due to GLUT2 deficiency ()
..expandglycogen storage disease I ()
..expandHartnup disease ()
..expandhereditary fructose intolerance ()
..expandhereditary xanthinuria ()
..expandhypoxanthine-guanine phosphoribosyltransferase deficiency ()
..expandImerslund-Grasbeck syndrome ()
..expandjuvenile cataract-microcornea-renal glucosuria syndrome ()
..expandjuvenile nephropathic cystinosis ()
..expandLCAT deficiency ()
..expandmethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ()
..expandnephropathic infantile cystinosis ()
..expandphosphoribosylpyrophosphate synthetase superactivity ()
..expandprimary hyperoxaluria ()
..expandproximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome ()  LSDB  L: 00144;
..expandsialidosis type 2 ()
..expandtyrosinemia type I ()
..expandvitamin B12-responsive methylmalonic acidemia ()
..expandWilson disease ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18116
Name:galactosemia
Definition:Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).
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Synonyms:Galactosaemia; galactose intolerance; galactosemia
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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