CESD
MCID: CHL074
MIFTS: 42

Cholesteryl Ester Storage Disease (CESD) malady

Genetic diseases, Rare diseases categories

Summaries for Cholesteryl Ester Storage Disease

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 wolman disease and splenomegaly. An important gene associated with Cholesteryl Ester Storage Disease is LIPA (lipase A, lysosomal acid, cholesterol esterase), and among its related pathways are Lysosome and superpathway of cholesterol biosynthesis. The compounds glycosphingolipid and TG(18:0/20:0/20:0)[iso3] have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Wikipedia:66 Cholesteryl ester storage disease (CESD) is the late onset phenotype for lysosomal acid lipase... more...

Description from OMIM:48 278000

Aliases & Classifications for Cholesteryl Ester Storage Disease

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

cholesteryl ester storage disease 44 22 48 46
cholesterol ester storage disease 22
cesd 22


Related Diseases for Cholesteryl Ester Storage Disease

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Cholesteryl Ester Storage Disease:



Diseases related to cholesteryl ester storage disease

Symptoms for Cholesteryl Ester Storage Disease

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48OMIM
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Clinical features from OMIM:

278000

Drugs & Therapeutics for Cholesteryl Ester Storage Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cholesteryl Ester Storage Disease

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Anatomical Context for Cholesteryl Ester Storage Disease

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34MalaCards
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MalaCards organs/tissues related to Cholesteryl Ester Storage Disease:

34
Liver

Animal Models for Cholesteryl Ester Storage Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cholesteryl Ester Storage Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3LDLR, ABCA1, GBA, LIPA
2MP:00053708.2GBA, ABCA1, LIPA, LDLR
3MP:00107687.3HMGCR, GBA, ABCA1, LIPA, LDLR

Publications for Cholesteryl Ester Storage Disease

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53PubMed
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Articles related to Cholesteryl Ester Storage Disease:

(show all 35)
idTitleAuthorsYear
1
A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease. (24295952)
2013
2
Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. (23403440)
2013
3
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. (23999269)
2013
4
Structural bases of Wolman disease and cholesteryl ester storage disease. (22138108)
2012
5
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. (22227072)
2012
6
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. (21757691)
2011
7
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. (19307143)
2009
8
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. (18413899)
2008
9
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease. (18775687)
2008
10
Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin. (16848116)
2006
11
Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. (15818756)
2005
12
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. (15200275)
2004
13
Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease. (11380065)
2001
14
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. (10735626)
2000
15
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. (10627498)
2000
16
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. (10551400)
1999
17
Cholesteryl ester storage disease: case report during childhood. (10508882)
1999
18
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. (9925650)
1999
19
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. (9554751)
1998
20
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. (9633819)
1998
21
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. (9705237)
1998
22
Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease. (9447750)
1997
23
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. (9367797)
1997
24
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. (9365051)
1997
25
Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease. (8767467)
1996
26
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. (8894696)
1996
27
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease. (7751811)
1995
28
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. (8598644)
1995
29
Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]. (8577049)
1995
30
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. (7833918)
1994
31
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. (8254026)
1993
32
Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. (1431581)
1992
33
Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess. (3376925)
1988
34
Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. (6097111)
1984
35
CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease. (6886132)
1983

Variations for Cholesteryl Ester Storage Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cholesteryl Ester Storage Disease:

65
id Symbol AA change Variation ID SNP ID
1LIPAp.His129ProVAR_004248
2LIPAp.His129ArgVAR_004249
3LIPAp.Leu200ProVAR_004250
4LIPAp.Leu200ProVAR_004250

Clinvar genetic disease variations for Cholesteryl Ester Storage Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1LIPANM_000235.3(LIPA): c.599T> C (p.Leu200Pro)single nucleotide variantPathogenicrs121965086GRCh37Chr 10, 90984925: 90984925
2LIPANM_000235.3(LIPA): c.796G> T (p.Gly266Ter)single nucleotide variantPathogenicrs267607218GRCh37Chr 10, 90983467: 90983467
3LIPALIPA, 934G-Asingle nucleotide variantPathogenic
4LIPALIPA, 1-BP INS, 634TinsertionPathogenic

Expression for genes affiliated with Cholesteryl Ester Storage Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholesteryl Ester Storage Disease

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Pathways for genes affiliated with Cholesteryl Ester Storage Disease

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 13EMD Millipore, 52PharmGKB
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Pathways related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GBA, LIPA
2
Show member pathways
Cholesterol biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.4HMGCR, LIPA
3
Show member pathways
9.4LIPF, ABCA1
49.3HMGCR, ABCA1
5
Show member pathways
thioredoxin pathway39
9.1LDLR, ABCA1
6
Show member pathways
9.1ABCA1, LDLR
7
Show member pathways
9.0LDLR, HMGCR
89.0LDLR, HMGCR
9
Show member pathways
8.5HMGCR, ABCA1, LDLR
108.5HMGCR, ABCA1, LDLR
11
Show member pathways
7.5HMGCR, LDLR, LIPF, ABCA1, GBA

Compounds for genes affiliated with Cholesteryl Ester Storage Disease

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 222)
idCompoundScoreTop Affiliating Genes
1glycosphingolipid469.7ABCA1, GBA
2TG(18:0/20:0/20:0)[iso3]259.7LIPA, LIPF
324s-hydroxy-cholesterol469.7ABCA1, HMGCR
4beta sitosterol469.7HMGCR, ABCA1
5TG(18:1(9Z)/20:0/20:4(5Z,8Z,11Z,14Z))[iso6]259.7LIPA, LIPF
6geranylgeraniol469.6HMGCR, ABCA1
7TG(20:0/20:0/20:4(5Z,8Z,11Z,14Z))[iso3]259.6LIPA, LIPF
8TG(16:1(9Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]259.5LIPF, LIPA
9TG(16:0/16:1(9Z)/20:4(5Z,8Z,11Z,14Z))[iso6]259.5LIPF, LIPA
10geranylgeranyl pyrophosphate469.5HMGCR, ABCA1
11TG(16:1(9Z)/18:0/20:1(11Z))[iso6]259.4LIPF, LIPA
12lifibrol469.4LDLR, HMGCR
13psyllium469.4HMGCR, LDLR
1422r-hydroxycholesterol46 3010.4LDLR, ABCA1
15u18666a469.4HMGCR, LDLR
16cholestyramine469.3LDLR, HMGCR
17lathosterol46 2510.3LDLR, HMGCR
18ciprofibrate46 3010.3LDLR, HMGCR
19naringenin46 1210.3HMGCR, LDLR
20TG(16:0/20:0/20:0)[iso3]259.2LIPF, LIPA
21squalene46 2510.2HMGCR, LDLR
22cholesteryl oleate469.2LIPA, LIPF, LDLR
23triacylglycerol469.1LDLR, LIPA, LIPF
24oleic acid46 30 25 1212.1ABCA1, LIPA, LDLR
25stearic acid46 25 1211.0ABCA1, LIPF, LDLR
26lovastatin46 52 62 30 1213.0LDLR, LIPA, HMGCR
2727-hydroxycholesterol46 3010.0LDLR, ABCA1, HMGCR
28probucol46 129.9ABCA1, HMGCR, LDLR
2925-hydroxycholesterol46 30 2510.9ABCA1, LDLR, HMGCR
30ezetimibe46 129.9ABCA1, LDLR, HMGCR
31farnesyl diphosphate46 30 1210.9LDLR, HMGCR, ABCA1
323-hydroxy-3-methylglutaryl-coa46 259.9ABCA1, LDLR, HMGCR
33niacin46 129.9LDLR, ABCA1, HMGCR
34bezafibrate46 30 1210.9ABCA1, LDLR, HMGCR
35fenofibrate46 52 1210.9HMGCR, LDLR, ABCA1
36mevalonate468.9ABCA1, LDLR, HMGCR
37phosphatidylcholine468.9LIPF, LDLR, ABCA1
38pravastatin46 52 30 25 1212.9LDLR, ABCA1, HMGCR
39alpha tocopherol468.9LDLR, ABCA1, HMGCR
40atorvastatin46 52 30 25 1212.9LDLR, HMGCR, ABCA1
41troglitazone46 30 62 1211.8LDLR, ABCA1, HMGCR
42sterol468.8ABCA1, HMGCR, LDLR
43phospholipid468.7ABCA1, LIPA, LDLR, GBA
44simvastatin46 52 62 30 25 1213.5LIPA, LDLR, HMGCR, ABCA1
45aspirin46 52 30 2511.5HMGCR, ABCA1, LDLR, GBA
46cholesterol46 30 25 1211.1LIPA, LDLR, GBA, HMGCR, ABCA1
47cysteine468.0GBA, LIPF, LIPA, LDLR, HMGCR
48cholesterol ester468.0HMGCR, LDLR, LIPA, LIPF, ABCA1
49lipid467.6HMGCR, LDLR, LIPA, LIPF, ABCA1, GBA
50serine467.6HMGCR, LIPA, GBA, LDLR, ABCA1, LIPF

GO Terms for genes affiliated with Cholesteryl Ester Storage Disease

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17Gene Ontology
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Biological processes related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of MAP kinase activityGO:0434079.5HMGCR, GBA
2lipid catabolic processGO:0160429.5LIPA, LIPF
3lipoprotein metabolic processGO:0421579.2LDLR, ABCA1
4cholesterol homeostasisGO:0426329.1ABCA1, LDLR
5cholesterol metabolic processGO:0082039.0LDLR, ABCA1
6response to nutrientGO:0075849.0HMGCR, ABCA1
7small molecule metabolic processGO:0442818.1HMGCR, LDLR, ABCA1, GBA

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet