Fish-eye disease
- Synonyms
- Alpha-lecithin cholesterol acyltransferase deficiency; Dyslipoproteinemic corneal dystrophy
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (25 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: , LCAT
Summary: lecithin-cholesterol acyltransferase
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration
- MedGen UID: 57731
- Concept ID: C0151691
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased LDL cholesterol concentration
Increased LDL cholesterol concentration
- MedGen UID: 154289
- Concept ID: C0549399
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased VLDL cholesterol concentration
Increased VLDL cholesterol concentration
- MedGen UID: 867364
- Concept ID: C4021729
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
- Abnormality of the eye
- Opacification of the corneal stroma
Opacification of the corneal stroma
- MedGen UID: 602191
- Concept ID: C0423250
- Finding: Finding
Abnormality of the eye
- Opacification of the corneal stroma
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