CESD
MCID: CHL074
MIFTS: 33

Cholesteryl Ester Storage Disease (CESD) malady

Summaries for Cholesteryl Ester Storage Disease

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatomegaly) is one of the key signs of the disease. In addition, chronic liver disease (cirrhosis) can develop. An accumulation of fatty deposits on the artery walls (atherosclerosis) is usually seen early in life. The deposits narrow the arteries and can eventually block them, increasing the chance of having a heart attack or stroke.

MalaCards: Cholesteryl Ester Storage Disease, also known as cholesterol ester storage disease, is related to lysosomal storage disease and wolman disease. An important gene associated with Cholesteryl Ester Storage Disease is LIPA (lipase A, lysosomal acid, cholesterol esterase), and among its related pathways are cholesterol biosynthesis III (via desmosterol) and Bile secretion. The compounds lifibrol and psyllium have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related mouse phenotype liver/biliary system.

Wikipedia:63 Cholesteryl ester storage disease (CESD) is the late onset phenotype for lysosomal acid lipase... more...

Description from OMIM:46 278000

Aliases & Classifications for Cholesteryl Ester Storage Disease

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21Genetics Home Reference, 46OMIM, 44Novoseek
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Aliases & Descriptions:

cholesteryl ester storage disease 21 46 44
cholesterol ester storage disease 21
cesd 21


Related Diseases for Cholesteryl Ester Storage Disease

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17GeneCards, 18GeneDecks
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Diseases related to Cholesteryl Ester Storage Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1lysosomal storage disease31.3GBA, LIPA
2wolman disease31.3LIPA, LIPF
3hepatitis30.7LDLR
4lipodystrophy30.4LDLR, HMGCR
5vascular disease30.4ABCA1, HMGCR, LDLR
6atherosclerosis30.4LIPA, LIPF, ABCA1, HMGCR, LDLR
7liver disease10.5
8cholesterol ester storage disease10.3
9splenic abscess10.3
10diarrhea10.3
11intestinal disease10.3
12splenic disease10.3
13hepatitis a10.3
14autosomal recessive disease10.3
15gallbladder disease10.3
16histiocytosis10.3
17lipid storage disease10.3
18liver cirrhosis10.3
19neurologic diseases10.3
20dementia10.0GBA
21antiphospholipid syndrome10.0LDLR
22gaucher's disease10.0GBA
23smith-lemli-opitz syndrome10.0HMGCR
24xanthomatosis10.0LDLR, ABCA1
25hypoalphalipoproteinemia10.0LDLR, ABCA1
26hyperalphalipoproteinemia10.0LDLR, ABCA1
27schizophrenia10.0LDLR
28splenomegaly10.0ABCA1, GBA, LIPA
29hyperlipidemia type 310.0LDLR, HMGCR
30obesity10.0LIPA, ABCA1, LDLR
31familial hyperlipidemia10.0HMGCR, LDLR
32familial hypercholesterolemia10.0HMGCR, LDLR
33diabetes mellitus10.0HMGCR, ABCA1
34familial combined hyperlipidemia10.0LDLR, HMGCR
35metabolic syndrome x10.0LDLR, ABCA1, GBA
36alzheimer's disease10.0LDLR, HMGCR, ABCA1
37ischemic heart disease10.0ABCA1, HMGCR, LDLR
38hypertriglyceridemia10.0ABCA1, HMGCR, LDLR
39coronary artery disease10.0LDLR, HMGCR, ABCA1
40type 2 diabetes mellitus10.0LDLR, HMGCR, ABCA1
41cadasil10.0ABCA1, HMGCR, LDLR
42hypercholesterolemia10.0LDLR, HMGCR, ABCA1, LIPA
43coronary heart disease10.0LDLR, HMGCR, ABCA1, LIPA

Graphical network of the top 20 diseases related to Cholesteryl Ester Storage Disease:



Diseases related to cholesteryl ester storage disease

Clinical Features for Cholesteryl Ester Storage Disease

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46OMIM
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Clinical features from OMIM:

278000

Drugs & Therapeutics for Cholesteryl Ester Storage Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cholesteryl Ester Storage Disease

Drug clinical trials:

Search ClinicalTrials for Cholesteryl Ester Storage Disease

Search NIH Clinical Center for Cholesteryl Ester Storage Disease

Search CenterWatch for Cholesteryl Ester Storage Disease

Genetic Tests for Cholesteryl Ester Storage Disease

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Anatomical Context for Cholesteryl Ester Storage Disease

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32MalaCards
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MalaCards organs/tissues related to Cholesteryl Ester Storage Disease:

32
Liver, Heart

Animal Models for Cholesteryl Ester Storage Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cholesteryl Ester Storage Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3LDLR, ABCA1, GBA, LIPA

Publications for Cholesteryl Ester Storage Disease

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Genetic Variations for Cholesteryl Ester Storage Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cholesteryl Ester Storage Disease:

62
id Symbol AA change Variation ID SNP ID
1LIPAp.His129ProVAR_004248
2LIPAp.His129ArgVAR_004249
3LIPAp.Leu200ProVAR_004250
4LIPAp.Leu200ProVAR_004250

Expression for genes affiliated with Cholesteryl Ester Storage Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholesteryl Ester Storage Disease

Search GEO for disease gene expression data for Cholesteryl Ester Storage Disease.

Pathways for genes affiliated with Cholesteryl Ester Storage Disease

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Cholesteryl Ester Storage Disease

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1lifibrol449.7HMGCR, LDLR
2psyllium449.7HMGCR, LDLR
3u18666a449.7LDLR, HMGCR
4cholestyramine449.6HMGCR, LDLR
5lathosterol44 2410.6LDLR, HMGCR
6ciprofibrate44 2810.6LDLR, HMGCR
7naringenin44 1110.6LDLR, HMGCR
8squalene44 2410.5LDLR, HMGCR
9diltiazem44 28 1111.5HMGCR, LDLR
10cholesteryl oleate449.5LIPA, LIPF, LDLR
11tocopherol449.4HMGCR, LDLR
12glycosphingolipid449.4ABCA1, GBA
13triacylglycerol449.4LDLR, LIPF, LIPA
1422r-hydroxycholesterol44 2810.4ABCA1, LDLR
1524s-hydroxy-cholesterol449.4HMGCR, ABCA1
16amiodarone44 49 28 1112.4LDLR, HMGCR
17beta sitosterol449.4HMGCR, ABCA1
18geranylgeraniol449.4HMGCR, ABCA1
19gemfibrozil44 28 1111.3HMGCR, LDLR
20rosuvastatin44 49 28 1112.3LDLR, HMGCR
21lovastatin44 49 59 28 1113.3LIPA, HMGCR, LDLR
22geranylgeranyl pyrophosphate449.2ABCA1, HMGCR
23oleic acid44 28 11 2412.1LIPA, ABCA1, LDLR
24monensin449.0ABCA1, LDLR
25stearic acid44 11 2411.0LDLR, ABCA1, LIPF
2627-hydroxycholesterol44 2810.0LDLR, HMGCR, ABCA1
27probucol44 1110.0ABCA1, HMGCR, LDLR
2825-hydroxycholesterol44 28 2410.9LDLR, HMGCR, ABCA1
29ezetimibe44 119.9ABCA1, HMGCR, LDLR
30farnesyl diphosphate44 28 1110.9ABCA1, HMGCR, LDLR
313-hydroxy-3-methylglutaryl-coa44 249.9LDLR, HMGCR, ABCA1
32niacin44 119.9ABCA1, HMGCR, LDLR
33bezafibrate44 28 1110.9LDLR, HMGCR, ABCA1
34fenofibrate44 49 1110.9LDLR, HMGCR, ABCA1
35mevalonate448.9ABCA1, HMGCR, LDLR
36pravastatin44 49 28 11 2412.9LDLR, HMGCR, ABCA1
37alpha tocopherol448.9LDLR, HMGCR, ABCA1
38phosphatidylcholine448.9LDLR, ABCA1, LIPF
39atorvastatin44 49 28 11 2412.9ABCA1, HMGCR, LDLR
40troglitazone44 28 59 1111.8LDLR, HMGCR, ABCA1
41sterol448.8LDLR, HMGCR, ABCA1
42phospholipid448.7LDLR, ABCA1, GBA, LIPA
43simvastatin44 49 59 28 11 2413.5LDLR, HMGCR, ABCA1, LIPA
44aspirin44 49 28 2411.5LDLR, HMGCR, ABCA1, GBA
45cysteine448.3LIPA, LIPF, GBA, HMGCR, LDLR
46rapamycin448.2ABCA1, HMGCR, LDLR
47cholesterol44 28 11 2411.1LDLR, HMGCR, ABCA1, GBA, LIPA
48cholesterol ester448.0LDLR, HMGCR, ABCA1, LIPF, LIPA
49lipid447.6LIPA, LIPF, GBA, ABCA1, HMGCR, LDLR
50serine447.6LIPA, LIPF, GBA, ABCA1, HMGCR, LDLR

GO Terms for genes affiliated with Cholesteryl Ester Storage Disease

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16Gene Ontology
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Biological processes related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipid catabolic processGO:0160429.5LIPF, LIPA
2negative regulation of MAP kinase activityGO:0434079.5HMGCR, GBA
3lipoprotein metabolic processGO:0421579.2LDLR, ABCA1
4cholesterol homeostasisGO:0426329.1LDLR, ABCA1
5cholesterol metabolic processGO:0082038.8LDLR, ABCA1
6small molecule metabolic processGO:0442818.0GBA, ABCA1, HMGCR, LDLR

Products for genes affiliated with Cholesteryl Ester Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cholesteryl Ester Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet