CESD
MCID: CHL074
MIFTS: 44

Cholesteryl Ester Storage Disease (CESD) malady

Genetic diseases, Rare diseases categories
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Summaries for Cholesteryl Ester Storage Disease

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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 based summary: 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(18:0/18:0/18:2(9Z,12Z))[iso3] have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Wikipedia:65 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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Cholesteryl Ester Storage Disease, Aliases & Descriptions:

Name: Cholesteryl Ester Storage Disease 42 21 46 44
Cholesterol Ester Storage Disease 21 62
 
Cesd 21


Classifications:

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


Related Diseases for Cholesteryl Ester Storage Disease

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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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Clinical features from OMIM:

278000

Drugs & Therapeutics for Cholesteryl Ester Storage Disease

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Drug clinical trials:

Search ClinicalTrials for Cholesteryl Ester Storage Disease

Search NIH Clinical Center 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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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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MGI Mouse Phenotypes related to Cholesteryl Ester Storage Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3LDLR, LIPA, ABCA1, GBA
2MP:00053708.2LDLR, LIPA, ABCA1, GBA
3MP:00107687.3GBA, ABCA1, LIPA, LDLR, HMGCR

Publications for Cholesteryl Ester Storage Disease

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Articles related to Cholesteryl Ester Storage Disease:

(show all 47)
idTitleAuthorsYear
1
Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease. (24798600)
2014
2
Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases. (25345094)
2014
3
Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease. (24508470)
2014
4
Ezetimibe markedly attenuates hepatic cholesterol accumulation and improves liver function in the lysosomal acid lipase-deficient mouse, a model for cholesteryl ester storage disease. (24370824)
2014
5
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. (23485521)
2013
6
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. (23348766)
2013
7
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
8
Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. (23403440)
2013
9
Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children. (24122380)
2013
10
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. (23424026)
2013
11
Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. (23999269)
2013
12
Structural bases of Wolman disease and cholesteryl ester storage disease. (22138108)
2012
13
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. (22227072)
2012
14
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. (21757691)
2011
15
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. (19307143)
2009
16
Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease. (19214773)
2009
17
Congenital cholesteryl ester storage disease: what are the implications in pregnancy? (19019526)
2009
18
Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. (18413899)
2008
19
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease. (18775687)
2008
20
Prevalence of cholesteryl ester storage disease. (17634524)
2007
21
Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin. (16848116)
2006
22
Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. (15818756)
2005
23
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. (15200275)
2004
24
Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease. (11380065)
2001
25
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. (10735626)
2000
26
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. (10627498)
2000
27
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
28
Cholesteryl ester storage disease: case report during childhood. (10508882)
1999
29
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. (9925650)
1999
30
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. (9684740)
1998
31
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. (9554751)
1998
32
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. (9633819)
1998
33
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. (9705237)
1998
34
Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease. (9447750)
1997
35
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. (9367797)
1997
36
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. (9365051)
1997
37
Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease. (8767467)
1996
38
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. (8894696)
1996
39
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
40
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. (8598644)
1995
41
Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]. (8577049)
1995
42
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. (7833918)
1994
43
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
44
Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. (1431581)
1992
45
Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess. (3376925)
1988
46
Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. (6097111)
1984
47
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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UniProtKB/Swiss-Prot genetic disease variations for Cholesteryl Ester Storage Disease:

64
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:

6
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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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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Pathways related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6LIPA, GBA
2
Show member pathways
Cholesterol biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
9.4LIPA, HMGCR
3
Show member pathways
9.4LIPF, ABCA1
49.3HMGCR, ABCA1
5
Show member pathways
thioredoxin pathway37
9.1LDLR, ABCA1
6
Show member pathways
9.1LDLR, ABCA1
7
Show member pathways
9.0HMGCR, LDLR
89.0LDLR, HMGCR
9
Show member pathways
8.5HMGCR, LDLR, ABCA1
108.5HMGCR, LDLR, ABCA1
11
Show member pathways
7.5GBA, ABCA1, LIPF, LDLR, HMGCR

Compounds for genes affiliated with Cholesteryl Ester Storage Disease

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Compounds related to Cholesteryl Ester Storage Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 222)
idCompoundScoreTop Affiliating Genes
1glycosphingolipid449.7ABCA1, GBA
2TG(18:0/18:0/18:2(9Z,12Z))[iso3]249.7LIPA, LIPF
324s-hydroxy-cholesterol449.7ABCA1, HMGCR
4beta sitosterol449.7HMGCR, ABCA1
5TG(18:0/20:1(11Z)/20:1(11Z))[iso3]249.7LIPA, LIPF
6geranylgeraniol449.6HMGCR, ABCA1
7TG(18:1(9Z)/20:4(5Z,8Z,11Z,14Z)/20:4(5Z,8Z,11Z,14Z))[iso3]249.6LIPA, LIPF
8TG(16:1(9Z)/18:1(9Z)/18:2(9Z,12Z))[iso6]249.5LIPF, LIPA
9TG(16:0/16:0/16:1(9Z))[iso3]249.5LIPF, LIPA
10geranylgeranyl pyrophosphate449.5HMGCR, ABCA1
11TG(16:0/20:1(11Z)/20:1(11Z))[iso3]249.4LIPF, LIPA
12lifibrol449.4LDLR, HMGCR
13psyllium449.4HMGCR, LDLR
1422r-hydroxycholesterol44 2810.4LDLR, ABCA1
15u18666a449.4HMGCR, LDLR
16cholestyramine449.3LDLR, HMGCR
17lathosterol44 2410.3LDLR, HMGCR
18ciprofibrate44 2810.3LDLR, HMGCR
19naringenin44 1110.3HMGCR, LDLR
20TG(16:0/18:0/18:2(9Z,12Z))[iso6]249.2LIPF, LIPA
21squalene44 2410.2HMGCR, LDLR
22cholesteryl oleate449.2LIPA, LIPF, LDLR
23triacylglycerol449.1LDLR, LIPA, LIPF
24oleic acid44 28 24 1112.1ABCA1, LIPA, LDLR
25stearic acid44 24 1111.0ABCA1, LIPF, LDLR
26lovastatin44 50 61 28 1113.0LDLR, LIPA, HMGCR
2727-hydroxycholesterol44 2810.0LDLR, ABCA1, HMGCR
28probucol44 119.9ABCA1, HMGCR, LDLR
2925-hydroxycholesterol44 28 2410.9ABCA1, LDLR, HMGCR
30ezetimibe44 119.9ABCA1, LDLR, HMGCR
31farnesyl diphosphate44 28 1110.9LDLR, HMGCR, ABCA1
323-hydroxy-3-methylglutaryl-coa44 249.9ABCA1, LDLR, HMGCR
33niacin44 119.9LDLR, ABCA1, HMGCR
34bezafibrate44 28 1110.9ABCA1, LDLR, HMGCR
35fenofibrate44 50 1110.9HMGCR, LDLR, ABCA1
36mevalonate448.9ABCA1, LDLR, HMGCR
37phosphatidylcholine448.9LIPF, LDLR, ABCA1
38pravastatin44 50 28 24 1112.9LDLR, ABCA1, HMGCR
39alpha tocopherol448.9LDLR, ABCA1, HMGCR
40atorvastatin44 50 28 24 1112.9LDLR, HMGCR, ABCA1
41troglitazone44 28 61 1111.8LDLR, ABCA1, HMGCR
42sterol448.8ABCA1, HMGCR, LDLR
43phospholipid448.7ABCA1, LIPA, LDLR, GBA
44simvastatin44 50 61 28 24 1113.5LIPA, LDLR, HMGCR, ABCA1
45aspirin44 50 28 2411.5HMGCR, ABCA1, LDLR, GBA
46cholesterol44 28 24 1111.1LIPA, LDLR, GBA, HMGCR, ABCA1
47cysteine448.0GBA, LIPF, LIPA, LDLR, HMGCR
48cholesterol ester448.0HMGCR, LDLR, LIPA, LIPF, ABCA1
49lipid447.6HMGCR, LDLR, LIPA, LIPF, ABCA1, GBA
50serine447.6HMGCR, LIPA, GBA, LDLR, ABCA1, LIPF

GO Terms for genes affiliated with Cholesteryl Ester Storage Disease

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet