MCID: CHL050
MIFTS: 37

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 76 54 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:14502
MeSH 44 D015217
SNOMED-CT 68 57218003
UMLS 73 C0008384

Summaries for Cholesterol Ester Storage Disease

NINDS : 54 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 testicular leydig cell tumor. 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 drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and adrenal gland, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 76 Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), also known as Wolman disease, is an... more...

Related Diseases for Cholesterol Ester Storage Disease

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

MGI Mouse Phenotypes related to Cholesterol Ester Storage Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 HADHA LAMP2 LIPA PNLIP STAR APOB
2 homeostasis/metabolism MP:0005376 9.65 HADHA LAMP2 LDLRAP1 LIPA PNLIP STAR
3 liver/biliary system MP:0005370 9.1 HADHA LAMP2 LIPA PNLIP APOB CYP11A1

Drugs & Therapeutics for Cholesterol Ester Storage Disease

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Liver Extracts Phase 2, Phase 3,Phase 3,Phase 1
6 Alkylating Agents Phase 2, Phase 3
7 Antilymphocyte Serum Phase 2, Phase 3
8 Antineoplastic Agents, Alkylating Phase 2, Phase 3
9 Antirheumatic Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Prednisolone acetate Phase 2, Phase 3
14 Prednisolone hemisuccinate Phase 2, Phase 3
15 Prednisolone phosphate Phase 2, Phase 3
16
alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
18
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
19
Hydroxyurea Approved Phase 2 127-07-1 3657
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22 tannic acid Approved, Nutraceutical Phase 2
23 Antifungal Agents Phase 2
24 Anti-Infective Agents Phase 2
25 Antimetabolites Phase 2
26 Antimetabolites, Antineoplastic Phase 2
27 Calcineurin Inhibitors Phase 2
28 Cyclosporins Phase 2
29 Dermatologic Agents Phase 2
30 Nucleic Acid Synthesis Inhibitors Phase 2

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Active, not recruiting NCT01757184 Phase 3 SBC-102 [sebelipase alfa] (1 mg/kg);Placebo
3 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
4 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
5 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
6 Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency Active, not recruiting NCT01488097 Phase 2 SBC-102 (sebelipase alfa);SBC-102 (sebelipase alfa);SBC-102 (sebelipase alfa)
7 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
8 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
9 Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Patients With Lysosomal Acid Lipase Deficiency Completed NCT01307098 Phase 1 SBC-102 (sebelipase alfa);SBC-102 (sebelipase alfa);SBC-102 (sebelipase alfa)
10 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
11 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
12 Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Unknown status NCT01716728 Not Applicable
13 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Unknown status NCT02852304
14 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Unknown status NCT02851550
15 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
16 National Lysosomal Acid Lipase Deficiency Study Completed NCT02372513
17 An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Completed NCT01528917
18 Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up Completed NCT01884220
19 Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Not Applicable sebelipase alfa
20 A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype Completed NCT01358370
21 Biomarker for Wolman Disease Recruiting NCT02383641
22 Lysosomal Acid Lipase (LAL) Deficiency Registry Recruiting NCT01633489
23 Lysosomal Acid Lipase Increase After Chetogenic Diet. Recruiting NCT03564002
24 An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency No longer available NCT02376751 sebelipase alfa
25 Screening for Lysosomal Acid Lipase Deficiency Terminated NCT02926872
26 A Study to Identify and Characterize LAL-D Patients in High-risk Populations Terminated NCT02345421

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:

41
Liver, Spleen, Adrenal Gland, Small Intestine

Publications for Cholesterol Ester Storage Disease

Articles related to Cholesterol Ester Storage Disease:

(show all 39)
# Title Authors Year
1
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report. ( 26385844 )
2016
2
Novel mutation in a patient with cholesterol ester storage disease. ( 25722898 )
2015
3
A case of abdominal pain with dyslipidemia: difficulties diagnosing cholesterol ester storage disease. ( 26221893 )
2015
4
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. ( 24072694 )
2013
5
Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene. ( 23675960 )
2013
6
Orthotopic liver transplantation in an adult with cholesterol ester storage disease. ( 23430518 )
2013
7
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. ( 22621222 )
2012
8
Gallbladder dysfunction in cholesterol ester storage disease. ( 19644392 )
2010
9
[Cholesterol ester storage disease: a rare disease or a rare diagnosis?]. ( 19156417 )
2009
10
Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult. ( 18478331 )
2009
11
Hepatocarcinoma in a child with cholesterol ester storage disease. ( 18339594 )
2008
12
Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India. ( 18174560 )
2007
13
Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. ( 16255772 )
2005
14
[Pathohistologic diagnosis of cholesterol ester storage disease]. ( 11797452 )
2001
15
Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease. ( 10735362 )
2000
16
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. ( 10562460 )
1999
17
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD). ( 8937772 )
1996
18
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). ( 7759067 )
1995
19
Treatment and liver transplantation for cholesterol ester storage disease. ( 7658290 )
1995
20
Cholesterol ester storage disease: a reported case. ( 7643033 )
1995
21
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. ( 7773732 )
1995
22
Muscle involvement in cholesterol ester storage disease. ( 1579241 )
1992
23
Lovastatin therapy for cholesterol ester storage disease in two sisters. ( 1986080 )
1991
24
[Hepatic cholesterol ester storage disease. Two new cases diagnosed in adults]. ( 2070966 )
1991
25
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. ( 2106753 )
1990
26
Cholesterol ester storage disease: clinical, biochemical, and pathological studies of four new cases. ( 3290419 )
1988
27
Histochemical abnormalities in liver and jejunal biopsies from a case of cholesterol ester storage disease. ( 2460693 )
1988
28
[Wolman disease and cholesterol ester storage disease in adults. New means of study and diagnosis]. ( 3826777 )
1986
29
Cholesterol ester and triglyceride metabolism in intact fibroblasts from patients with Wolman's disease and cholesterol ester storage disease. ( 6522136 )
1984
30
Cholesterol ester storage disease and mesenteric lipodystrophy. ( 6198903 )
1984
31
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis. ( 6478639 )
1984
32
Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease. ( 6782865 )
1981
33
Cholesterol ester storage disease: clinical, biochemical, and pathological studies. ( 859064 )
1977
34
Cholesterol ester storage disease. Radiological features. ( 15822337 )
1974
35
Acid lipase in cultured fibroblasts: cholesterol ester storage disease. ( 4833843 )
1974
36
Deficient activity of hepatic acid lipase in cholesterol ester storage disease. ( 5019788 )
1972
37
Deficient activity of acid lipase in cholesterol-ester storage disease. ( 5131869 )
1971
38
Small intestinal mucosa in cholesterol ester storage disease. A light and electron microscope study. ( 5348089 )
1969
39
Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects. ( 5642714 )
1968

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

Cellular components related to Cholesterol Ester Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.43 CD1A CTSD LAMP2
2 endosome membrane GO:0010008 9.33 APOB CD1A LAMP2
3 lysosome GO:0005764 9.26 CTSD GOT1 LAMP2 LIPA
4 lysosomal lumen GO:0043202 8.92 APOB CTSD LAMP2 LIPA

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

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.62 APOB LIPA LIPF PNLIP
2 steroid metabolic process GO:0008202 9.61 APOB CYP11A1 LDLRAP1
3 cholesterol transport GO:0030301 9.43 APOB LDLRAP1 STAR
4 response to carbohydrate GO:0009743 9.4 APOB GOT1
5 C21-steroid hormone biosynthetic process GO:0006700 9.37 CYP11A1 STAR
6 low-density lipoprotein particle clearance GO:0034383 9.33 APOB LDLRAP1 LIPA
7 cholesterol metabolic process GO:0008203 9.26 APOB CYP11A1 LDLRAP1 STAR
8 lipid metabolic process GO:0006629 9.17 APOB CYP11A1 HADHA LDLRAP1 LIPA LIPF

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on ester bonds GO:0016788 9.32 LIPA LIPF
2 triglyceride lipase activity GO:0004806 9.26 LIPF PNLIP
3 low-density lipoprotein particle receptor binding GO:0050750 9.16 APOB LDLRAP1
4 cholesterol transporter activity GO:0017127 8.96 APOB STAR
5 lipase activity GO:0016298 8.62 LIPA PNLIP

Sources for Cholesterol Ester Storage 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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