Details of Disease

General Information of Disease (ID: DISV6DVF)

Disease Name LCAT deficiency
Synonyms lecithin-cholesterol acyltransferase 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.
Disease Hierarchy
DISZFMB5: Hypoalphalipoproteinemia
DISV6DVF: LCAT deficiency
Disease Identifiers
MONDO ID
MONDO_0018999
UMLS CUI
C5779633
MedGen ID
1830326
Orphanet ID
650
SNOMED CT ID
238091006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
LCAT DELNI4J Definitive Autosomal recessive [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DTHD1 OTW00SHB Limited Autosomal recessive [2]
LCAT OTRLMLK0 Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.