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GTR Home > Conditions/Phenotypes > Fish-eye disease

Fish-eye disease

Synonyms
ALPHA-LCAT DEFICIENCY; Alpha-lecithin cholesterol acyltransferase deficiency; DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY; LCATA DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Fish eye disease (FED) is a rare familial disorder characterized by severe high-density lipoprotein (HDL) deficiency and massive corneal opacities (summary by Kastelein et al., 1992). [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , LCAT
    Summary: lecithin-cholesterol acyltransferase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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