MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandhypoalphalipoproteinemia (MONDO:0017773)
Parent Node:
expandmetabolic disease with corneal opacity (MONDO:0020279)
Parent Node:
expandnephropathy secondary to a storage or other metabolic disease (MONDO:0019743)
..Starting node
..expandLCAT deficiency ()

       Child Nodes:
........expandfish eye disease ()
........expandNorum disease ()



 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:18999
Name:LCAT deficiency
Definition:LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
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Synonyms:lecithin-cholesterol acyltransferase deficiency
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal