MCID: FSH001
MIFTS: 45

Fish-Eye Disease

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

Aliases & Classifications for Fish-Eye Disease

MalaCards integrated aliases for Fish-Eye Disease:

Name: Fish-Eye Disease 53 72 49 24 55 71 28 13 51 69
Fed 53 49 24 55 71
Dyslipoproteinemic Corneal Dystrophy 53 49 24 71
Alpha-Lcat Deficiency 53 49 24 71
Partial Lcat Deficiency 49 24 55
Lcata Deficiency 53 49 24
Alpha-Lecithin:cholesterol Acyltransferase Deficiency 53 24
Alpha-Lecithin Cholesterol Acyltransferase Deficiency 49
Lecithin Acyltransferase Deficiency 69

Characteristics:

Orphanet epidemiological data:

55
fish-eye disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
fish-eye disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 136120
Orphanet 55 ORPHA79292
UMLS via Orphanet 70 C0342895
MESH via Orphanet 42 C538467
ICD10 via Orphanet 33 E78.6
MedGen 39 C0342895
MeSH 41 D007863
UMLS 69 C0342895

Summaries for Fish-Eye Disease

Genetics Home Reference : 24 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 familial lcat deficiency and lecithin:cholesterol acyltransferase deficiency, and has symptoms including angina pectoris, splenomegaly and hepatomegaly. 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 and adipocyte.

UniProtKB/Swiss-Prot : 71 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').

NIH Rare Diseases : 49 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. Last updated: 6/21/2017

Wikipedia : 72 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein... more...

Description 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

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
hypoalphalipoproteinemia
increased plasma triglycerides
increased plasma vldl, ldl
low plasma hdl
deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

Head And Neck Eyes:
corneal opacities


Clinical features from OMIM:

136120

Human phenotypes related to Fish-Eye Disease:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angina pectoris 55 31 occasional (7.5%) Occasional (29-5%) HP:0001681
2 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
3 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
4 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
6 lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002716
7 atherosclerosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002621
8 hypertriglyceridemia 31 HP:0002155
9 opacification of the corneal stroma 31 HP:0007759
10 hypoalphalipoproteinemia 55 Very frequent (99-80%)
11 decreased circulating high-density lipoprotein levels 31 hallmark (90%) HP:0003233
12 increased circulating low-density lipoprotein levels 31 HP:0003141
13 increased circulating very-low-density lipoprotein levels 31 HP:0003362

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 28 LCAT

Anatomical Context for Fish-Eye Disease

MalaCards organs/tissues related to Fish-Eye Disease:

38
Eye, Adipocyte

Publications for Fish-Eye Disease

Articles related to Fish-Eye Disease:

(show top 50) (show all 55)
# Title Authors Year
1
Secret in the eyes - fish eye disease. ( 27512314 )
2016
2
Fish-eye disease: Another under-recognized cause of familial corneal opacification. ( 26854387 )
2016
3
Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family. ( 26664212 )
2015
4
A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy. ( 24636183 )
2014
5
Clinical and histopathological features of a suspected case of fish-eye disease. ( 22855019 )
2012
6
Disturbed apolipoprotein A-I-containing lipoproteins in fish-eye disease are improved by the lecithin:cholesterol acyltransferase produced by gene-transduced adipocytes in vitro. ( 21074466 )
2011
7
Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase. ( 16780378 )
2006
8
Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. ( 16216249 )
2006
9
[Fish eye disease revealing a partial LCAT deficiency]. ( 15936482 )
2005
10
T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease. ( 15115696 )
2004
11
Gene symbol: LCAT. Disease: Fish eye disease. ( 15678588 )
2004
12
Corneal opacifications in a low high density lipoprotein syndrome: suspicion of fish eye disease: a case report. ( 12455137 )
2001
13
Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. ( 10787436 )
2000
14
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. ( 10450185 )
1999
15
[Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. ( 9645018 )
1998
16
Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea. ( 9261271 )
1997
17
Fish-eye disease: structural and in vivo metabolic abnormalities of high-density lipoproteins. ( 9160810 )
1997
18
A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. ( 8820100 )
1996
19
Two novel molecular defects in the LCAT gene are associated with fish eye disease. ( 8620346 )
1996
20
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). ( 8755645 )
1996
21
A unique genetic and biochemical presentation of fish-eye disease. ( 8675648 )
1995
22
[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. ( 7602789 )
1995
23
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. ( 8282802 )
1994
24
[Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. ( 8221181 )
1993
25
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent. ( 1588268 )
1992
26
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. ( 1571050 )
1992
27
A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features. ( 1424675 )
1992
28
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. ( 2052566 )
1991
29
A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features. ( 1778223 )
1991
30
Familial LCAT deficiency and fish-eye disease. ( 3141686 )
1988
31
Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase. ( 3374277 )
1988
32
Erythrocyte abnormalities in a hypoalphalipoproteinemia syndrome resembling fish eye disease. ( 3410011 )
1988
33
Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins. ( 3600207 )
1987
34
The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease. ( 2823801 )
1987
35
Hypoalphalipoproteinemia resembling fish eye disease. ( 3591467 )
1987
36
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. ( 3630775 )
1987
37
In vitro normalization of cholesteryl ester content and particle size of fish eye disease high density lipoproteins. ( 3591466 )
1987
38
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. ( 3425387 )
1987
39
Low A-esterase activity in serum of patients with fish-eye disease. ( 3030583 )
1987
40
Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma. ( 3630774 )
1987
41
Bile acids and plasma high density lipoproteins: biliary lipid metabolism in fish eye disease. ( 3089811 )
1986
42
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. ( 4061123 )
1985
43
Paradoxical esterification of plasma cholesterol in fish eye disease. ( 4025005 )
1985
44
Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. ( 4061122 )
1985
45
Plasma apolipoprotein pattern in fish-eye disease examined by high-resolution two-dimensional electrophoresis. ( 3933853 )
1985
46
Electron microscopic structure of serum lipoproteins from patients with fish eye disease. ( 6704050 )
1984
47
Studies of lipoprotein metabolism in a patient with fish-eye disease. ( 6434321 )
1984
48
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. ( 6428166 )
1984
49
Studies on high density lipoproteins in fish eye disease. ( 6846063 )
1983
50
Plasma lipid transfer in fish-eye disease. ( 6613682 )
1983

Variations for Fish-Eye Disease

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

71 (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
12 LCAT p.Arg347Cys VAR_066868 rs202017590

ClinVar genetic disease variations for Fish-Eye Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.463A> G (p.Asn155Asp) single nucleotide variant Pathogenic rs121908057 GRCh38 Chromosome 16, 67942731: 67942731
2 LCAT NM_000229.1(LCAT): c.524-22T> C single nucleotide variant Pathogenic rs794726664 GRCh38 Chromosome 16, 67942609: 67942609
3 LCAT NM_000229.1(LCAT): c.440C> T (p.Thr147Ile) single nucleotide variant Pathogenic rs121908050 GRCh37 Chromosome 16, 67976657: 67976657
4 LCAT NM_000229.1(LCAT): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs121908051 GRCh37 Chromosome 16, 67977904: 67977904
5 LCAT NM_000229.1(LCAT): c.1112C> T (p.Thr371Met) single nucleotide variant Pathogenic rs121908053 GRCh37 Chromosome 16, 67974018: 67974018
6 LCAT NM_000229.1(LCAT): c.970_972delCTC (p.Leu325del) deletion Pathogenic rs121908056 GRCh37 Chromosome 16, 67974158: 67974160

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 extracellular space GO:0005615 9.58 APOA1 APOA2 LCAT
2 endoplasmic reticulum lumen GO:0005788 9.43 APOA1 APOA2
3 early endosome GO:0005769 9.37 APOA1 APOA2
4 blood microparticle GO:0072562 9.32 APOA1 APOA2
5 very-low-density lipoprotein particle GO:0034361 9.26 APOA1 APOA2
6 chylomicron GO:0042627 9.16 APOA1 APOA2
7 spherical high-density lipoprotein particle GO:0034366 8.96 APOA1 APOA2
8 high-density lipoprotein particle GO:0034364 8.8 APOA1 APOA2 LCAT

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.64 APOA1 APOA2
2 lipid transport GO:0006869 9.64 APOA1 APOA2
3 steroid metabolic process GO:0008202 9.63 APOA1 LCAT
4 regulation of lipid metabolic process GO:0019216 9.63 APOA1 APOA2
5 phospholipid metabolic process GO:0006644 9.62 APOA1 LCAT
6 response to estrogen GO:0043627 9.62 APOA1 APOA2
7 retinoid metabolic process GO:0001523 9.61 APOA1 APOA2
8 animal organ regeneration GO:0031100 9.61 APOA1 APOA2
9 cholesterol metabolic process GO:0008203 9.61 APOA1 APOA2 LCAT
10 lipoprotein metabolic process GO:0042157 9.6 APOA1 APOA2
11 cholesterol efflux GO:0033344 9.59 APOA1 APOA2
12 high-density lipoprotein particle assembly GO:0034380 9.58 APOA1 APOA2
13 phospholipid efflux GO:0033700 9.58 APOA1 APOA2
14 chylomicron assembly GO:0034378 9.57 APOA1 APOA2
15 positive regulation of cholesterol esterification GO:0010873 9.56 APOA1 APOA2
16 chylomicron remodeling GO:0034371 9.55 APOA1 APOA2
17 high-density lipoprotein particle clearance GO:0034384 9.54 APOA1 APOA2
18 lipoprotein biosynthetic process GO:0042158 9.52 APOA1 LCAT
19 negative regulation of cytokine secretion involved in immune response GO:0002740 9.51 APOA1 APOA2
20 cholesterol homeostasis GO:0042632 9.5 APOA1 APOA2 LCAT
21 peptidyl-methionine modification GO:0018206 9.49 APOA1 APOA2
22 regulation of intestinal cholesterol absorption GO:0030300 9.48 APOA1 APOA2
23 negative regulation of lipase activity GO:0060192 9.46 APOA1 APOA2
24 phosphatidylcholine biosynthetic process GO:0006656 9.43 APOA1 APOA2 LCAT
25 protein oxidation GO:0018158 9.4 APOA1 APOA2
26 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.37 APOA1 APOA2
27 cholesterol transport GO:0030301 9.33 APOA1 APOA2 LCAT
28 reverse cholesterol transport GO:0043691 9.13 APOA1 APOA2 LCAT
29 high-density lipoprotein particle remodeling GO:0034375 8.8 APOA1 APOA2 LCAT

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.51 APOA1 APOA2
2 phospholipid binding GO:0005543 9.49 APOA1 APOA2
3 heat shock protein binding GO:0031072 9.48 APOA1 APOA2
4 cholesterol binding GO:0015485 9.46 APOA1 APOA2
5 lipid transporter activity GO:0005319 9.43 APOA1 APOA2
6 phosphatidylcholine binding GO:0031210 9.4 APOA1 APOA2
7 cholesterol transporter activity GO:0017127 9.37 APOA1 APOA2
8 high-density lipoprotein particle binding GO:0008035 9.32 APOA1 APOA2
9 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA1 APOA2
11 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA1 APOA2
12 apolipoprotein receptor binding GO:0034190 8.62 APOA1 APOA2

Sources for Fish-Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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