FED
MCID: FSH001
MIFTS: 45

Fish-Eye Disease (FED)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Fish-Eye Disease

MalaCards integrated aliases for Fish-Eye Disease:

Name: Fish-Eye Disease 57 75 53 25 59 74 29 13 55 6 72
Fed 57 53 25 59 74
Dyslipoproteinemic Corneal Dystrophy 57 53 25 74
Alpha-Lcat Deficiency 57 53 25 74
Partial Lcat Deficiency 53 25 59
Lcata Deficiency 57 53 25
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 57 25
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 53
Lecithin Acyltransferase Deficiency 72
Disease, Fish-Eye 40

Characteristics:

Orphanet epidemiological data:

59
fish-eye disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fish-eye disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 136120
MeSH 44 D007863
MESH via Orphanet 45 C538467
ICD10 via Orphanet 34 E78.6
UMLS via Orphanet 73 C0342895
Orphanet 59 ORPHA79292
MedGen 42 C0342895
UMLS 72 C0023195 C0342895

Summaries for Fish-Eye Disease

Genetics Home Reference : 25 Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision.

MalaCards based summary : Fish-Eye Disease, also known as fed, is related to lecithin:cholesterol acyltransferase deficiency and familial lcat deficiency. An important gene associated with Fish-Eye Disease is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Lipoprotein metabolism and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, heart and adipocyte, and related phenotypes are corneal opacity and decreased hdl cholesterol concentration

NIH Rare Diseases : 53 Fish-eye disease is a rare condition that affects the eyes. People with this condition generally develop corneal clouding beginning in adolescence or early adulthood. Overtime, the condition gradually worsens and can lead to significant vision loss. Fish-eye disease is caused by changes (mutations) in the LCAT gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. In severe cases, corneal transplantation may be recommended.

UniProtKB/Swiss-Prot : 74 Fish-eye disease: A disorder of lipoprotein metabolism due to partial lecithin- cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish- eye').

Wikipedia : 75 Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. The disease has... more...

More information from OMIM: 136120

Related Diseases for Fish-Eye Disease

Graphical network of the top 20 diseases related to Fish-Eye Disease:



Diseases related to Fish-Eye Disease

Symptoms & Phenotypes for Fish-Eye Disease

Human phenotypes related to Fish-Eye Disease:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
2 decreased hdl cholesterol concentration 59 32 hallmark (90%) Very frequent (99-80%) HP:0003233
3 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
5 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
6 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
7 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
8 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
9 hypertriglyceridemia 32 HP:0002155
10 opacification of the corneal stroma 32 HP:0007759
11 increased ldl cholesterol concentration 32 HP:0003141
12 increased vldl cholesterol concentration 32 HP:0003362

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
corneal opacities

Laboratory Abnormalities:
increased plasma triglycerides
increased plasma vldl, ldl
low plasma hdl
hypoalphalipoproteinemia
deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

Clinical features from OMIM:

136120

Drugs & Therapeutics for Fish-Eye Disease

Search Clinical Trials , NIH Clinical Center for Fish-Eye Disease

Genetic Tests for Fish-Eye Disease

Genetic tests related to Fish-Eye Disease:

# Genetic test Affiliating Genes
1 Fish-Eye Disease 29 LCAT

Anatomical Context for Fish-Eye Disease

MalaCards organs/tissues related to Fish-Eye Disease:

41
Eye, Heart, Adipocyte

Publications for Fish-Eye Disease

Articles related to Fish-Eye Disease:

(show top 50) (show all 114)
# Title Authors PMID Year
1
A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. 38 8 71
2052566 1991
2
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). 9 38 71
8755645 1996
3
A unique genetic and biochemical presentation of fish-eye disease. 38 71
8675648 1995
4
Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis. 38 71
8326012 1993
5
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. 38 8
1588268 1992
6
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. 38 71
1571050 1992
7
Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease. 38 8
3630775 1987
8
Hypoalphalipoproteinemia resembling fish eye disease. 38 8
3591467 1987
9
Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects. 38 8
4061123 1985
10
Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. 38 8
4061122 1985
11
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. 38 8
6428166 1984
12
Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia. 38 8
6802651 1982
13
A further case of fish-eye disease. 38 8
92725 1979
14
Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia. 38 8
91022 1979
15
Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met). 71
1737840 1992
16
Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans. 9 38
19687369 2009
17
Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. 9 38
16216249 2006
18
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. 9 38
15994445 2005
19
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. 9 38
15115696 2004
20
Headgroup specificity of lecithin cholesterol acyltransferase for monomeric and vesicular phospholipids. 9 38
10903483 2000
21
Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene. 9 38
10849435 2000
22
Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. 9 38
10787436 2000
23
A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression. 9 38
10450185 1999
24
Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity. 9 38
9869650 1999
25
Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. 9 38
9678768 1998
26
A proposed architecture for lecithin cholesterol acyl transferase (LCAT): identification of the catalytic triad and molecular modeling. 9 38
9541390 1998
27
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. 9 38
9162740 1997
28
Reverse cholesterol transport in plasma of patients with different forms of familial HDL deficiency. 9 38
7749883 1995
29
In vitro expression of natural mutants of human lecithin:cholesterol acyltransferase. 9 38
7658168 1995
30
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. 9 38
8282802 1994
31
[Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. 9 38
8221181 1993
32
Recombinant lecithin:cholesterol acyltransferase containing a Thr123-->Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein. 9 38
8445345 1993
33
Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo. 38
30808683 2019
34
Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease. 38
30394912 2019
35
Finding a very rare mutation in non-Caucasian LCAT patients from Southwest Asia for the first time. 38
30506915 2018
36
Complete and Partial Lecithin:Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis. 38
29748187 2018
37
Clinical features and visual function in a patient with Fish-eye disease: Quantitative measurements and optical coherence tomography. 38
29687088 2018
38
Fish-eye disease: Another under-recognized cause of familial corneal opacification. 38
26854387 2016
39
Diagnosis and treatment of high density lipoprotein deficiency. 38
27565770 2016
40
Secret in the eyes - fish eye disease. 38
27512314 2016
41
[Lecithin:Cholesterol Acyltransferase Deficiency, from genes to therapy]. 38
27960011 2016
42
Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family. 38
26664212 2015
43
Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase. 38
25727495 2015
44
Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency. 38
24876348 2014
45
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. 38
24636183 2014
46
HDL genetic defects. 38
24953397 2014
47
Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency. 38
24140107 2013
48
Clinical and histopathological features of a suspected case of fish-eye disease. 38
22855019 2012
49
[LCAT deficiency: a nephrological diagnosis]. 38
21809306 2011
50
Disturbed apolipoprotein A-I-containing lipoproteins in fish-eye disease are improved by the lecithin:cholesterol acyltransferase produced by gene-transduced adipocytes in vitro. 38
21074466 2011

Variations for Fish-Eye Disease

ClinVar genetic disease variations for Fish-Eye Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LCAT NM_000229.2(LCAT): c.440C> T (p.Thr147Ile) single nucleotide variant Pathogenic rs121908050 16:67976657-67976657 16:67942754-67942754
2 LCAT NM_000229.2(LCAT): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs121908051 16:67977904-67977904 16:67944001-67944001
3 LCAT NM_000229.2(LCAT): c.1112C> T (p.Thr371Met) single nucleotide variant Pathogenic rs121908053 16:67974018-67974018 16:67940115-67940115
4 LCAT NM_000229.2(LCAT): c.969_971CCT[1] (p.Leu325del) short repeat Pathogenic rs121908056 16:67974158-67974160 16:67940255-67940257
5 LCAT NM_000229.2(LCAT): c.463A> G (p.Asn155Asp) single nucleotide variant Pathogenic rs121908057 16:67976634-67976634 16:67942731-67942731
6 LCAT NM_000229.2(LCAT): c.524-22T> C single nucleotide variant Pathogenic rs794726664 16:67976512-67976512 16:67942609-67942609

UniProtKB/Swiss-Prot genetic disease variations for Fish-Eye Disease:

74 (show all 12)
# Symbol AA change Variation ID SNP ID
1 LCAT p.Pro34Leu VAR_004252 rs121908051
2 LCAT p.Thr147Ile VAR_004256 rs121908050
3 LCAT p.Met276Lys VAR_004264 rs121908054
4 LCAT p.Thr371Met VAR_004267 rs121908053
5 LCAT p.Pro34Gln VAR_039021
6 LCAT p.Val70Glu VAR_039023 rs748427834
7 LCAT p.Arg123Cys VAR_039026 rs140068549
8 LCAT p.Arg159Gln VAR_039027 rs768017317
9 LCAT p.Thr298Ala VAR_039033
10 LCAT p.Trp99Ser VAR_066862
11 LCAT p.Leu338Phe VAR_066867 rs133063521
12 LCAT p.Arg347Cys VAR_066868 rs202017590

Expression for Fish-Eye Disease

Search GEO for disease gene expression data for Fish-Eye Disease.

Pathways for Fish-Eye Disease

GO Terms for Fish-Eye Disease

Cellular components related to Fish-Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.32 APOA2 APOA1
2 very-low-density lipoprotein particle GO:0034361 9.26 APOA2 APOA1
3 chylomicron GO:0042627 9.16 APOA2 APOA1
4 spherical high-density lipoprotein particle GO:0034366 8.96 APOA2 APOA1
5 high-density lipoprotein particle GO:0034364 8.8 LCAT APOA2 APOA1

Biological processes related to Fish-Eye Disease according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.65 APOA2 APOA1
2 lipid transport GO:0006869 9.64 APOA2 APOA1
3 steroid metabolic process GO:0008202 9.64 LCAT APOA1
4 regulation of lipid metabolic process GO:0019216 9.63 APOA2 APOA1
5 phospholipid metabolic process GO:0006644 9.63 LCAT APOA1
6 cholesterol homeostasis GO:0042632 9.63 LCAT APOA2 APOA1
7 response to estrogen GO:0043627 9.62 APOA2 APOA1
8 retinoid metabolic process GO:0001523 9.62 APOA2 APOA1
9 animal organ regeneration GO:0031100 9.61 APOA2 APOA1
10 lipoprotein metabolic process GO:0042157 9.61 APOA2 APOA1
11 cholesterol metabolic process GO:0008203 9.61 LCAT APOA2 APOA1
12 cholesterol efflux GO:0033344 9.6 APOA2 APOA1
13 high-density lipoprotein particle assembly GO:0034380 9.59 APOA2 APOA1
14 phospholipid efflux GO:0033700 9.58 APOA2 APOA1
15 high-density lipoprotein particle clearance GO:0034384 9.58 APOA2 APOA1
16 chylomicron assembly GO:0034378 9.57 APOA2 APOA1
17 very-low-density lipoprotein particle remodeling GO:0034372 9.56 LCAT APOA1
18 positive regulation of cholesterol esterification GO:0010873 9.55 APOA2 APOA1
19 chylomicron remodeling GO:0034371 9.54 APOA2 APOA1
20 peptidyl-methionine modification GO:0018206 9.52 APOA2 APOA1
21 negative regulation of cytokine secretion involved in immune response GO:0002740 9.51 APOA2 APOA1
22 lipoprotein biosynthetic process GO:0042158 9.49 LCAT APOA1
23 regulation of intestinal cholesterol absorption GO:0030300 9.48 APOA2 APOA1
24 phosphatidylcholine biosynthetic process GO:0006656 9.43 LCAT APOA2 APOA1
25 protein oxidation GO:0018158 9.4 APOA2 APOA1
26 negative regulation of lipase activity GO:0060192 9.37 APOA2 APOA1
27 cholesterol transport GO:0030301 9.33 LCAT APOA2 APOA1
28 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.32 APOA2 APOA1
29 reverse cholesterol transport GO:0043691 9.13 LCAT APOA2 APOA1
30 high-density lipoprotein particle remodeling GO:0034375 8.8 LCAT APOA2 APOA1

Molecular functions related to Fish-Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.48 APOA2 APOA1
2 heat shock protein binding GO:0031072 9.46 APOA2 APOA1
3 cholesterol binding GO:0015485 9.43 APOA2 APOA1
4 lipid transporter activity GO:0005319 9.4 APOA2 APOA1
5 cholesterol transporter activity GO:0017127 9.37 APOA2 APOA1
6 high-density lipoprotein particle binding GO:0008035 9.32 APOA2 APOA1
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA2 APOA1
8 lipase inhibitor activity GO:0055102 9.16 APOA2 APOA1
9 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA2 APOA1
10 apolipoprotein receptor binding GO:0034190 8.62 APOA2 APOA1

Sources for Fish-Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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