MCID: CHL050
MIFTS: 30

Cholesterol Ester Storage Disease

Categories: Metabolic diseases

Aliases & Classifications for Cholesterol Ester Storage Disease

MalaCards integrated aliases for Cholesterol Ester Storage Disease:

Name: Cholesterol Ester Storage Disease 12 73 53 44 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:14502
MeSH 44 D015217
SNOMED-CT 67 57218003
UMLS 70 C0008384

Summaries for Cholesterol Ester Storage Disease

NINDS : 53 Acid lipase disease or deficiency occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include fatty acids, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase, both of which are interited and affect males and females Wolman’s disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, enlarged liver and grossly enlarged spleen, gastrointestinal problems, jaundice, anemia, vomiting, and calcium deposits in the adrenal glands, which causes them to harden. Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.

MalaCards based summary : Cholesterol Ester Storage Disease is related to lysosomal acid lipase deficiency and hypercholesterolemia, familial, 1. An important gene associated with Cholesterol Ester Storage Disease is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Metabolism and Lipoprotein metabolism. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver and spleen.

Wikipedia : 73 Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), is an autosomal recessive inborn error of... more...

Related Diseases for Cholesterol Ester Storage Disease

Diseases related to Cholesterol Ester Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 lysosomal acid lipase deficiency 31.4 TFEB STAP1 PNPLA5 LIPF LIPE LIPA
2 hypercholesterolemia, familial, 1 30.5 STAP1 NPC1L1 LDLRAP1 LCAT
3 sea-blue histiocyte disease 29.8 STAP1 PNPLA5 LIPA LDLRAP1 LCAT
4 autosomal recessive disease 10.4
5 non-alcoholic fatty liver disease 10.4
6 hypertriglyceridemia, familial 10.3
7 lipid metabolism disorder 10.3
8 varicose veins 10.2
9 portal hypertension 10.2
10 esophageal varix 10.2
11 arcus corneae 10.1 LDLRAP1 LCAT
12 kearns-sayre syndrome 10.1
13 fatty liver disease, nonalcoholic 1 10.1
14 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
15 ptosis 10.1
16 non-alcoholic steatohepatitis 10.1
17 cholestasis 10.1
18 gaucher's disease 10.1
19 histiocytosis 10.1
20 liver disease 10.1
21 liver cirrhosis 10.1
22 inherited metabolic disorder 10.1
23 fatty liver disease 10.1
24 splenomegaly 10.1
25 rare dyslipidemia 10.1
26 sitosterolemia 9.9 NPC1L1 LIPA LDLRAP1 LCAT
27 c syndrome 9.9 TFEB NPC1L1 LIPA
28 lipase deficiency, combined 9.9 PNLIP GPIHBP1
29 familial hypercholesterolemia 9.9 STAP1 LIPA LDLRAP1 LCAT
30 familial lipoprotein lipase deficiency 9.8 PNLIP GPIHBP1
31 familial hyperlipidemia 9.8 PNLIP LIPA LCAT
32 familial apolipoprotein c-ii deficiency 9.8 PNLIP GPIHBP1
33 chanarin-dorfman syndrome 9.8 PNPLA5 LIPE
34 niemann-pick disease 9.8 TFEB NPC1L1 LIPA LCAT
35 hyperlipoproteinemia, type i 9.5 PNLIP NPC1L1 LIPA LCAT GPIHBP1
36 lysosomal and lipase deficiency 9.2 TFEB STAP1 PNPLA5 LIPF LIPE LIPA

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



Diseases related to Cholesterol Ester Storage Disease

Symptoms & Phenotypes for Cholesterol Ester Storage Disease

Drugs & Therapeutics for Cholesterol Ester Storage Disease

Drugs for Cholesterol Ester Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Completed NCT01307098 Phase 1, Phase 2 Sebelipase alfa 0.35 mg/kg;Sebelipase alfa 1 mg/kg;Sebelipase alfa 3 mg/kg
2 An Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01 Completed NCT01488097 Phase 2 sebelipase alfa
3 Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Unknown status NCT01716728
4 Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study Unknown status NCT01791452
5 An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Completed NCT01528917
6 The Frequency of Cholesteryl Ester Storage Disease in Children With Unexplained Transaminase Elevation and Chronic Liver Disease Completed NCT02372513
7 A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency Completed NCT01884220
8 An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency Recruiting NCT01633489
9 Biomarker for Wolman Disease, AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02383641

Search NIH Clinical Center for Cholesterol Ester Storage Disease

Cochrane evidence based reviews: cholesterol ester storage disease

Genetic Tests for Cholesterol Ester Storage Disease

Anatomical Context for Cholesterol Ester Storage Disease

MalaCards organs/tissues related to Cholesterol Ester Storage Disease:

40
Liver, Spleen

Publications for Cholesterol Ester Storage Disease

Articles related to Cholesterol Ester Storage Disease:

(show top 50) (show all 81)
# Title Authors PMID Year
1
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. 61
32740531 2020
2
Lysosomal Acid Lipase Deficiency: Therapeutic Options. 61
32103901 2020
3
Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? 61
31435171 2019
4
A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia. 61
31392116 2019
5
Specific Substrate for the Assay of Lysosomal Acid Lipase. 61
29339442 2018
6
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency. 61
29374495 2018
7
Presumptive Spontaneous Lysosomal Storage-Like Disease in a Crl:CD1(ICR) Mouse. 61
28222836 2017
8
Disorders in the initial steps of steroid hormone synthesis. 61
26960203 2017
9
Development of a selective activity-based probe for glycosylated LIPA. 61
26965858 2016
10
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. 61
26385844 2016
11
Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease? 61
26602919 2015
12
Lysosomal Acid Lipase Deficiency 61
26225414 2015
13
[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy]. 61
26065284 2015
14
Novel mutation in a patient with cholesterol ester storage disease. 61
25722898 2015
15
A case of abdominal pain with dyslipidemia: difficulties diagnosing cholesterol ester storage disease. 61
26221893 2015
16
Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease. 61
24837159 2014
17
Infant case of lysosomal acid lipase deficiency: Wolman's disease. 61
24832708 2014
18
Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseases. 61
25025052 2014
19
Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene. 61
23675960 2013
20
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. 61
24072694 2013
21
Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 61
23430518 2013
22
A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. 61
22483793 2012
23
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. 61
22621222 2012
24
Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. 61
20955964 2010
25
Gallbladder dysfunction in cholesterol ester storage disease. 61
19644392 2010
26
[Cholesterol ester storage disease: a rare disease or a rare diagnosis?]. 61
19156417 2009
27
Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult. 61
18478331 2009
28
Hepatocarcinoma in a child with cholesterol ester storage disease. 61
18339594 2008
29
Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India. 61
18174560 2007
30
Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. 61
16255772 2005
31
[Cholesterol ester storage disease]. 61
15759790 2004
32
[Pathohistologic diagnosis of cholesterol ester storage disease]. 61
11797452 2001
33
Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. 61
10735362 2000
34
[Genetic disorders causing abnormal LDL-cholesterol levels]. 61
10638203 1999
35
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 61
10562460 1999
36
Crystal structure of human gastric lipase and model of lysosomal acid lipase, two lipolytic enzymes of medical interest. 61
10358049 1999
37
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. 61
9365051 1997
38
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD). 61
8937772 1996
39
Treatment and liver transplantation for cholesterol ester storage disease. 61
7658290 1995
40
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. 61
7773732 1995
41
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). 61
7759067 1995
42
Cholesterol ester storage disease: a reported case. 61
7643033 1995
43
New findings in pathology of storage. 61
8383310 1993
44
Muscle involvement in cholesterol ester storage disease. 61
1579241 1992
45
Autosomal dominant crystalline dystrophy. 61
2062498 1991
46
Lovastatin therapy for cholesterol ester storage disease in two sisters. 61
1986080 1991
47
[Hepatic cholesterol ester storage disease. Two new cases diagnosed in adults]. 61
2070966 1991
48
[Cholesterol ester storage disease in two siblings]. 61
2346262 1990
49
Microvesicular steatosis of the liver. 61
2177300 1990
50
Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process. 61
2106753 1990

Variations for Cholesterol Ester Storage Disease

Expression for Cholesterol Ester Storage Disease

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

Pathways for Cholesterol Ester Storage Disease

GO Terms for Cholesterol Ester Storage Disease

Biological processes related to Cholesterol Ester Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.65 NPC1L1 LIPE LDLRAP1 LCAT CH25H
2 cholesterol homeostasis GO:0042632 9.61 LDLRAP1 LCAT GPIHBP1
3 cholesterol metabolic process GO:0008203 9.55 NPC1L1 LIPE LDLRAP1 LCAT CH25H
4 low-density lipoprotein particle clearance GO:0034383 9.54 LIPA LDLRAP1 CES3
5 cholesterol transport GO:0030301 9.5 NPC1L1 LDLRAP1 LCAT
6 triglyceride catabolic process GO:0019433 9.46 PNPLA5 LIPE
7 lipid catabolic process GO:0016042 9.43 PNPLA5 PNLIP LIPF LIPE LIPA CES3
8 intestinal cholesterol absorption GO:0030299 9.4 PNLIP NPC1L1
9 lipid metabolic process GO:0006629 9.28 PNPLA5 PNLIP NPC1L1 LIPF LIPE LIPA

Molecular functions related to Cholesterol Ester Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 PNPLA5 PNLIP LIPF LIPE LIPA LCAT
2 carboxylic ester hydrolase activity GO:0052689 9.43 PNLIP CES3
3 phosphotyrosine residue binding GO:0001784 9.4 STAP1 LDLRAP1
4 hydrolase activity, acting on ester bonds GO:0016788 9.37 LIPF LIPA
5 lipase activity GO:0016298 9.33 PNLIP LIPE LIPA
6 signaling adaptor activity GO:0035591 9.32 STAP1 LDLRAP1
7 sterol esterase activity GO:0004771 9.13 LIPE LIPA CES3
8 triglyceride lipase activity GO:0004806 9.1 PNPLA5 PNLIP LIPF LIPE LCAT CES3

Sources for Cholesterol Ester Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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