FISH-EYE DISEASE

Question 1

What is  FISH-EYE DISEASE?

Accepted Answer

very rare
autosomal recessive
mutation in the lecithin:cholesterol acyltransferase gene
fish-eye disease is one form of LCAT deficiency

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Fischaugen-Syndrom; LCAT-Mangel, partieller

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 136120

Question 4

Which enzymes are involved?

Accepted Answer

Phosphatidylcholine-sterol acyltransferase

Disease	FISH-EYE DISEASE
Synonym	FED
OMIM	136120 OMIM = Online Mendelian Inheritance of Men
Orphanet	79292
Protein (UniProt)	Phosphatidylcholine-sterol acyltransferase
ExPASy	2.3.1.43
Gene locus	16q22.1
ICD	E78.6
Summary	very rare autosomal recessive mutation in the lecithin:cholesterol acyltransferase gene fish-eye disease is one form of LCAT deficiency
Laboratory findings	HDL-Cholesterol dec (serum) Triglycerides inc (serum)
Symptoms	corneal arcus corneal clouding corneal deposits onset, adolescent renal dysfunction, renal defects