Details of Disease | DrugMAP

General Information of Disease (ID: DISSJE3M)

Disease Name	Norum disease
Synonyms	LCAT deficiency; familial LCAT deficiency; lecithin acyltransferase deficiency; lecithin:cholesterol acyltransferase deficiency; FLD; Norum disease; complete LCAT deficiency
Definition	A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
Disease Hierarchy	DISV6DVF: LCAT deficiency DISWXAH4: Hypolipoproteinemia DISSJE3M: Norum disease
Disease Identifiers	MONDO ID MONDO_0009515 MESH ID D007863 UMLS CUI C0023195 OMIM ID 245900 MedGen ID 9698 Orphanet ID 79293 SNOMED CT ID 1264565005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA2	TTGQA9W	Limited	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
LCAT	DELNI4J	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMF1	OTOL14ZD	Limited	Biomarker	[3]
LCAT	OTRLMLK0	Supportive	Autosomal recessive	[2]
GPR162	OTK4LT3K	Strong	Biomarker	[4]
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References

1	Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease.J Clin Invest. 1994 Jan;93(1):321-30. doi: 10.1172/JCI116962.
2	The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res. 1997 Feb;38(2):191-205.
3	A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla).J Clin Lipidol. 2015 Nov-Dec;9(6):837-846. doi: 10.1016/j.jacl.2015.09.001. Epub 2015 Sep 18.
4	Characterization of subspecies of lipoprotein containing apolipoprotein A-I in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency.Atherosclerosis. 1995 Apr 24;114(2):147-55. doi: 10.1016/0021-9150(94)05478-2.