Fish-eye disease

General Information (adopted from Orphanet):

Synonyms, Signs: LCATA DEFICIENCY
ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY
ALPHA-LCAT DEFICIENCY
FED
Partial LCAT deficiency
Number of Symptoms 12
OrphanetNr: 79292
OMIM Id: 136120
ICD-10: E78.6
UMLs: C0342895
MeSH: C538467
MedDRA:
Snomed: 238092004

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: LCAT deficiency
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease
 -Rare renal disease

Comment:

Residual LCAT activity is still detectable in FED. The only significant finding in FED is corneal opacities. With progression, the cornea may show diffuse opacification with phospholipid and cholesterol having been observed in all corneal layers and lead to significant vision loss as early as at 15 years of age (PMID:21540632).

Symptom Information: Sort by abundance 

1
 (HPO:0007759) Opacification of the corneal stroma Very frequent [Orphanet] 21540632; 9261271 IBIS 77 / 7739
2
 (HPO:0000572) Visual loss 22855019 IBIS 272 / 7739
3
 (HPO:0007957) Corneal opacity Very frequent [Orphanet] hallmark [HPO] 21540632 IBIS 84 / 7739
4
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 24636183 IBIS 58 / 7739
5
 (HPO:0003233) Hypoalphalipoproteinemia 21540632; 25172171 IBIS 18 / 7739
6
 (HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 21540632 IBIS 9 / 7739
7
 (HPO:0003141) Hyperbetalipoproteinemia 21540632 IBIS 10 / 7739
8
 (HPO:0002155) Hypertriglyceridemia Very frequent [Orphanet] 21540632 IBIS 67 / 7739
9
 (HPO:0003077) Hyperlipidemia Very frequent [Orphanet] 21540632 IBIS 37 / 7739
10
 (HPO:0003124) Hypercholesterolemia Very frequent [Orphanet] 21540632 IBIS 53 / 7739
11
 (OMIM) Increased plasma VLDL, LDL 21540632 IBIS 1 / 7739
12
 (OMIM) Deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity 21540632 IBIS 1 / 7739

Associated genes:

LCAT;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In Sweden, Carlson and Philipson (1979) described a man and his 3 daughters with a disorder called 'fish-eye' in their home village because corneal opacities gave their eyes the appearance of those of boiled fish. Two living sisters ...
Molecular genetics OMIM By restriction enzyme analysis of the apoA-I gene, Rees et al. (1984) could demonstrate no major deletion or insertion in 2 patients with fish-eye disease.

The mutations in fish-eye disease and in Norum disease are in ...