Details of Disease | DrugMAP

General Information of Disease (ID: DISYTZNQ)

Disease Name	Fish eye disease
Synonyms	alpha-lecithin cholesterol acyltransferase deficiency; fish-eye disease; alpha-LCAT deficiency; dyslipoproteinemic corneal dystrophy; alpha-lecithin:cholesterol acyltransferase deficiency; LCATA deficiency; fish eye disease; partial LCAT deficiency; fed
Definition	Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
Disease Hierarchy	DISV6DVF: LCAT deficiency DISO5FAY: Inborn error of metabolism DISYTZNQ: Fish eye disease
Disease Identifiers	MONDO ID MONDO_0007620 MESH ID D007863 UMLS CUI C0342895 OMIM ID 136120 MedGen ID 83354 Orphanet ID 79292 SNOMED CT ID 238092004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA2	TTGQA9W	Limited	Biomarker	[1]
LCAT	TTGZ91P	Strong	Genetic Variation	[2]
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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	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL8A2	OTASWJ69	Limited	Genetic Variation	[4]
CSN3	OTR61MI8	Limited	Biomarker	[5]
PTPRG	OT9N2WOF	Limited	Genetic Variation	[4]
GPR162	OTK4LT3K	Strong	Biomarker	[1]
LCAT	OTRLMLK0	Definitive	Autosomal recessive	[3]
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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	Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease.Cornea. 2019 Mar;38(3):379-383. doi: 10.1097/ICO.0000000000001804.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
4	Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.Eur J Hum Genet. 2012 Jun;20(6):632-8. doi: 10.1038/ejhg.2011.248. Epub 2012 Jan 11.
5	Tumor-protective and tumor-promoting actions of dietary whey proteins in an N-methyl-N-nitrosourea model of rat mammary carcinogenesis.Nutr Cancer. 2006;55(2):171-7. doi: 10.1207/s15327914nc5502_8.