FED
MCID: FSH001
MIFTS: 50

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 76 53 25 59 75 29 13 55 6 73
Fed 57 53 25 59 75
Dyslipoproteinemic Corneal Dystrophy 57 53 25 75
Alpha-Lcat Deficiency 57 53 25 75
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 73
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
Orphanet 59 ORPHA79292
MESH via Orphanet 45 C538467
UMLS via Orphanet 74 C0342895
ICD10 via Orphanet 34 E78.6
MedGen 42 C0342895
MeSH 44 D007863

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, liver and breast, and related phenotypes are splenomegaly and hepatomegaly

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 : 75 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 : 76 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:

57
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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
2 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
4 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
5 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
6 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
7 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
8 hypertriglyceridemia 32 HP:0002155
9 opacification of the corneal stroma 32 HP:0007759
10 hypoalphalipoproteinemia 59 Very frequent (99-80%)
11 decreased hdl cholesterol concentration 32 hallmark (90%) HP:0003233
12 increased ldl cholesterol concentration 32 HP:0003141
13 increased vldl cholesterol concentration 32 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 29 LCAT

Anatomical Context for Fish-Eye Disease

MalaCards organs/tissues related to Fish-Eye Disease:

41
Eye, Liver, Breast, Brain, Bone, Adipocyte, Heart

Publications for Fish-Eye Disease

Articles related to Fish-Eye Disease:

(show top 50) (show all 1032)
# Title Authors Year
1
A comparative study on the effect of argan oil versus fish oil on risk factors for cardio-vascular disease in high-fat-fed rats. ( 30153577 )
2019
2
Effects of atorvastatin and/or probucol on recovery of atherosclerosis in high-fat-diet-fed apolipoprotein E-deficient mice. ( 30551396 )
2019
3
Capsaicin is beneficial to hyperlipidemia, oxidative stress, endothelial dysfunction, and atherosclerosis in Guinea pigs fed on a high-fat diet. ( 30342015 )
2019
4
Hydroxytyrosol supplementation ameliorates the metabolic disturbances in white adipose tissue from mice fed a high-fat diet through recovery of transcription factors Nrf2, SREBP-1c, PPAR-γ and NF-κB. ( 30551508 )
2019
5
Retraction: Paper "Differential Effect of Vitamin K and Vitamin D Supplementation on Bone Mass in Young Rats Fed Normal or Low Calcium Diet" by Iwamoto J, et al. [Yonsei Med J 2004;45(2):314-324]. ( 30554499 )
2019
6
Bacterial community changes in a glacial-fed Tibetan lake are correlated with glacial melting. ( 30321727 )
2019
7
The effect of micronutrient supplementation on growth and hepatic metabolism in diploid and triploid Atlantic salmon (Salmo salar) parr fed a low marine ingredient diet. ( 30367964 )
2019
8
Comparison of a grain-based diet supplemented with synthetic vitamin E versus a lucerne (alfalfa) hay-based diet fed to lambs in terms of carcass traits, muscle vitamin E, fatty acid content, lipid oxidation, and retail colour of meat. ( 30388474 )
2019
9
Bioprocess optimization for the overproduction of catalytic domain of ubiquitin-like protease 1 (Ulp1) from S. cerevisiae in E. coli fed-batch culture. ( 30396406 )
2019
10
Stability of vacuum-packed meat from finishing steers fed different inclusion levels of brewer's spent grain. ( 30253261 )
2019
11
Special-Fed Veal: Separable components, proximate composition, and nutrient analysis of selected raw and cooked, wholesale and retail cuts. ( 30292700 )
2019
12
Quality of meat from sheep fed diets containing spineless cactus (Nopalea cochenillifera Salm Dyck). ( 30055851 )
2019
13
Sources of hepatic glycogen synthesis in mice fed with glucose or fructose as the sole dietary carbohydrate. ( 30058123 )
2019
14
Myricanol mitigates lipid accumulation in 3T3-L1 adipocytes and high fat diet-fed zebrafish via activating AMP-activated protein kinase. ( 30174051 )
2019
15
Regulatory Role of Amino Acids in Pigs Fed on Protein-restricted Diets. ( 29769004 )
2019
16
N-Acetylcysteine alleviates gut dysbiosis and glucose metabolic disorder in high-fat diet-fed mice. ( 29845722 )
2019
17
Antioxidant status, meat oxidative stability and quality characteristics of lambs fed with hesperidin, naringin or α-tocopheryl acetate supplemented diets. ( 29882326 )
2019
18
Clinical features and visual function in a patient with Fish-eye disease: Quantitative measurements and optical coherence tomography. ( 29687088 )
2018
19
Involvement of catecholaminergic and GABAAergic mediations in the anxiety-related behavior in long-term powdered diet-fed mice. ( 30529642 )
2018
20
A Rare Case of Subarachnoid Hemorrhage caused by Ruptured Venous Varix Due to Dural Arteriovenous Fistula at the Foramen Magnum Fed Solely by the Ascending Pharyngeal Artery. ( 30370246 )
2018
21
Hybrid surgery for an arteriovenous malformation fed by an accessory middle cerebral artery and drained by a developmental venous anomaly: A case report and literature review. ( 30186430 )
2018
22
Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula. ( 30497080 )
2018
23
Protein mass spectrometry extends temporal blood meal detection over polymerase chain reaction in mouse-fed Chagas disease vectors. ( 30277492 )
2018
24
Effect of Honey on Diarrhea and Fecal Microbiotain in Critically Ill Tube-Fed Patients: A Single Center Randomized Controlled Study. ( 29868456 )
2018
25
Post-weaning piglets fed with different levels of fungal mycotoxins and spray-dried porcine plasma have improved weight gain, feed intake and reduced diarrhea incidence. ( 29471136 )
2018
26
Taurine deficiency and dilated cardiomyopathy in golden retrievers fed commercial diets. ( 30543707 )
2018
27
AIM-deficient mouse fed a high-trans fat, high-cholesterol diet: a new animal model for nonalcoholic fatty liver disease. ( 30487357 )
2018
28
Ascorbic acid inhibits visceral obesity and nonalcoholic fatty liver disease by activating peroxisome proliferator-activated receptor α in high-fat-diet-fed C57BL/6J mice. ( 30283077 )
2018
29
MRI of atherosclerosis and fatty liver disease in cholesterol fed rabbits. ( 30068362 )
2018
30
Increase in liver cytosolic lipases activities and VLDL-TAG secretion rate do not prevent the non-alcoholic fatty liver disease in cafeteria diet-fed rats. ( 29705134 )
2018
31
Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease. ( 30394912 )
2018
32
Cats with IRIS stage 1 and 2 chronic kidney disease maintain body weight and lean muscle mass when fed food having increased caloric density, and enhanced concentrations of carnitine and essential amino acids. ( 30514741 )
2018
33
Notes from the Field: Cronobacter sakazakii Meningitis in a Full-Term Neonate Fed Exclusively with Breast Milk - Indiana, 2018. ( 30408018 )
2018
34
Tucumã Oil Shifted Ruminal Fermentation, Reducing Methane Production and Altering the Microbiome but Decreased Substrate Digestibility Within a RUSITEC Fed a Mixed Hay - Concentrate Diet. ( 30093888 )
2018
35
3-NOP vs. Halogenated Compound: Methane Production, Ruminal Fermentation and Microbial Community Response in Forage Fed Cattle. ( 30131771 )
2018
36
Methane production, rumen fermentation, and diet digestibility of Holstein and Jersey dairy cows being divergent in residual feed intake and fed at 2 forage-to-concentrate ratios. ( 30197132 )
2018
37
Enteric methane production and ruminal fermentation of forage brassica diets fed in continuous culture. ( 29471524 )
2018
38
In vitro gas and methane production in rumen fluid from dairy cows fed grass silages differing in plant maturity, compared to in vivo data. ( 29655256 )
2018
39
Determination of peripheral neuropathy in high-fat diet fed low-dose streptozotocin-treated female C57Bl/6J mice and Sprague-Dawley rats. ( 29412513 )
2018
40
A fermented mixed tea made with camellia (Camellia japonica) and third-crop green tea leaves prevents nonalcoholic steatohepatitis in Sprague-Dawley rats fed a high-fat and high-cholesterol diet. ( 30046568 )
2018
41
The Ethyl Acetate Extract of Leaves of Ugni molinae Turcz. Improves Neuropathological Hallmarks of Alzheimer's Disease in Female APPswe/PS1dE9 Mice Fed with a High Fat Diet. ( 30400089 )
2018
42
Trehalose administration attenuates atherosclerosis in rabbits fed a high-fat diet. ( 30506717 )
2018
43
RAGE deficiency does not affect non-alcoholic steatohepatitis and atherosclerosis in Western type diet-fed Ldlr-/- mice. ( 30323247 )
2018
44
Supplementation with curcumin inhibits intestinal cholesterol absorption and prevents atherosclerosis in high-fat diet-fed apolipoprotein E knockout mice. ( 30055772 )
2018
45
Atherosclerosis in cholesterol-fed rabbits and in homozygous and heterozygous LDL receptor-deficient humans. ( 30064057 )
2018
46
Inhibition of Semicarbazide-sensitive Amine Oxidase Reduces Atherosclerosis in Cholesterol-fed New Zealand White Rabbits. ( 29915377 )
2018
47
Evidence of extensive atherosclerosis, coronary artery disease and myocardial infarction in the ApoE-/-:Ins2+/Akita mouse fed a western diet. ( 29879686 )
2018
48
Salusin-α attenuates hepatic steatosis and atherosclerosis in high fat diet-fed low density lipoprotein receptor deficient mice. ( 29704496 )
2018
49
Anionic nanoliposomes reduced atherosclerosis progression in Low Density Lipoprotein Receptor (LDLR) deficient mice fed a high fat diet. ( 29741759 )
2018
50
High doses of phytase on growth performance and apparent ileal amino acid digestibility of broilers fed diets with graded concentrations of digestible lysine. ( 30445596 )
2018

Variations for Fish-Eye Disease

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

75 (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 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.524-22T> C single nucleotide variant Pathogenic rs794726664 GRCh37 Chromosome 16, 67976512: 67976512
2 LCAT NM_000229.1(LCAT): c.440C> T (p.Thr147Ile) single nucleotide variant Pathogenic rs121908050 GRCh37 Chromosome 16, 67976657: 67976657
3 LCAT NM_000229.1(LCAT): c.440C> T (p.Thr147Ile) single nucleotide variant Pathogenic rs121908050 GRCh38 Chromosome 16, 67942754: 67942754
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.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs121908051 GRCh38 Chromosome 16, 67944001: 67944001
6 LCAT NM_000229.1(LCAT): c.1112C> T (p.Thr371Met) single nucleotide variant Pathogenic rs121908053 GRCh37 Chromosome 16, 67974018: 67974018
7 LCAT NM_000229.1(LCAT): c.1112C> T (p.Thr371Met) single nucleotide variant Pathogenic rs121908053 GRCh38 Chromosome 16, 67940115: 67940115
8 LCAT NM_000229.1(LCAT): c.970_972delCTC (p.Leu325del) deletion Pathogenic rs121908056 GRCh37 Chromosome 16, 67974158: 67974160
9 LCAT NM_000229.1(LCAT): c.970_972delCTC (p.Leu325del) deletion Pathogenic rs121908056 GRCh38 Chromosome 16, 67940255: 67940257
10 LCAT NM_000229.1(LCAT): c.463A> G (p.Asn155Asp) single nucleotide variant Pathogenic rs121908057 GRCh37 Chromosome 16, 67976634: 67976634
11 LCAT NM_000229.1(LCAT): c.463A> G (p.Asn155Asp) single nucleotide variant Pathogenic rs121908057 GRCh38 Chromosome 16, 67942731: 67942731
12 LCAT NM_000229.1(LCAT): c.524-22T> C single nucleotide variant Pathogenic rs794726664 GRCh38 Chromosome 16, 67942609: 67942609

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 APOA1 APOA2
2 very-low-density lipoprotein particle GO:0034361 9.26 APOA1 APOA2
3 chylomicron GO:0042627 9.16 APOA1 APOA2
4 spherical high-density lipoprotein particle GO:0034366 8.96 APOA1 APOA2
5 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 30)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.65 APOA1 APOA2
2 lipid transport GO:0006869 9.64 APOA1 APOA2
3 steroid metabolic process GO:0008202 9.64 APOA1 LCAT
4 regulation of lipid metabolic process GO:0019216 9.63 APOA1 APOA2
5 phospholipid metabolic process GO:0006644 9.63 APOA1 LCAT
6 cholesterol homeostasis GO:0042632 9.63 APOA1 APOA2 LCAT
7 response to estrogen GO:0043627 9.62 APOA1 APOA2
8 retinoid metabolic process GO:0001523 9.62 APOA1 APOA2
9 animal organ regeneration GO:0031100 9.61 APOA1 APOA2
10 cholesterol efflux GO:0033344 9.61 APOA1 APOA2
11 cholesterol metabolic process GO:0008203 9.61 APOA1 APOA2 LCAT
12 lipoprotein metabolic process GO:0042157 9.6 APOA1 APOA2
13 high-density lipoprotein particle assembly GO:0034380 9.59 APOA1 APOA2
14 phospholipid efflux GO:0033700 9.58 APOA1 APOA2
15 chylomicron assembly GO:0034378 9.58 APOA1 APOA2
16 high-density lipoprotein particle clearance GO:0034384 9.57 APOA1 APOA2
17 positive regulation of cholesterol esterification GO:0010873 9.56 APOA1 APOA2
18 very-low-density lipoprotein particle remodeling GO:0034372 9.55 APOA1 LCAT
19 chylomicron remodeling GO:0034371 9.54 APOA1 APOA2
20 lipoprotein biosynthetic process GO:0042158 9.52 APOA1 LCAT
21 negative regulation of cytokine secretion involved in immune response GO:0002740 9.51 APOA1 APOA2
22 peptidyl-methionine modification GO:0018206 9.49 APOA1 APOA2
23 regulation of intestinal cholesterol absorption GO:0030300 9.48 APOA1 APOA2
24 phosphatidylcholine biosynthetic process GO:0006656 9.43 APOA1 APOA2 LCAT
25 negative regulation of lipase activity GO:0060192 9.4 APOA1 APOA2
26 protein oxidation GO:0018158 9.37 APOA1 APOA2
27 cholesterol transport GO:0030301 9.33 APOA1 APOA2 LCAT
28 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.32 APOA1 APOA2
29 reverse cholesterol transport GO:0043691 9.13 APOA1 APOA2 LCAT
30 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:

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

Sources for Fish-Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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