CESD
MCID: LYS012
MIFTS: 61

Lysosomal Acid Lipase Deficiency (CESD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Lysosomal Acid Lipase Deficiency

MalaCards integrated aliases for Lysosomal Acid Lipase Deficiency:

Name: Lysosomal Acid Lipase Deficiency 57 24 53 25 59 75 37 29 6 40
Wolman Disease 57 12 76 53 59 75 29 55 6 44 15 73
Cholesteryl Ester Storage Disease 57 53 59 75 29 13 55 6
Lal Deficiency 57 24 53 25 59 75
Cholesterol Ester Storage Disease 53 59 75 73
Lipa Deficiency 57 53 25 75
Cholesterol Ester Hydrolase Deficiency 57 53 75
Acid Lipase Deficiency 12 24 25
Cesd 57 53 75
Acid Esterase Deficiency 12 25
Familial Xanthomatosis 53 25
Wolman's Disease 12 54
Primary Familial Xanthomatosis with Adrenal Calcification 25
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 73
Wolman's or Triglyceride Storage Type Iii Disease 12
Liposomal Acid Lipase Deficiency, Wolman Type 53
Cholesteryl Ester Storage Disease; Cesd 57
Familial Visceral Xanthomatosis 25
Primary Familial Xanthomatosis 25
Xanthomatosis, Familial 12
Wolman Xanthomatosis 12
Acid Lipase Disease 54
Wod 75

Characteristics:

Orphanet epidemiological data:

59
lysosomal acid lipase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;
cholesteryl ester storage disease
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;
wolman disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lysosomal acid lipase deficiency:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lysosomal Acid Lipase Deficiency

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 : Lysosomal Acid Lipase Deficiency, also known as wolman disease, is related to cholesterol ester storage disease and hypercholesterolemia, familial, and has symptoms including vomiting and diarrhea. An important gene associated with Lysosomal Acid Lipase Deficiency is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Steroid biosynthesis and Lysosome. The drugs Methylprednisolone hemisuccinate and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and adrenal gland, and related phenotypes are failure to thrive and nausea and vomiting

Genetics Home Reference : 25 Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood.

NIH Rare Diseases : 53 Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner.Enzyme replacement therapy is available for the treatment of lysosomal acid lipase deficiencies, including cholesteryl ester storage disease, in the United States, the European Union, and Japan. A low cholesterol diet may also be helpful.

OMIM : 57 Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001). (278000)

UniProtKB/Swiss-Prot : 75 Cholesteryl ester storage disease: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Wolman disease: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.

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

GeneReviews: NBK305870

Related Diseases for Lysosomal Acid Lipase Deficiency

Graphical network of the top 20 diseases related to Lysosomal Acid Lipase Deficiency:



Diseases related to Lysosomal Acid Lipase Deficiency

Symptoms & Phenotypes for Lysosomal Acid Lipase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
vomiting
diarrhea
steatorrhea
intestinal malabsorption
nutritional failure

Genitourinary Kidneys:
adrenal calcification

Growth Other:
poor weight gain

Abdomen Liver:
hepatomegaly
hepatic fibrosis
cirrhosis
steatosis (involving hepatocytes and kupffer cells)

Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia
elevated alanine aminotransferase (alt)
low lysosomal acid lipase activity

Endocrine Features:
adrenal calcification

Abdomen External Features:
abdominal protuberance


Clinical features from OMIM:

278000

Human phenotypes related to Lysosomal Acid Lipase Deficiency:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0002017
3 hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002615
4 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001263
5 splenomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
6 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002240
7 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
8 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
9 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
10 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002155
11 ascites 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001541
12 anemia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001903
13 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
14 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
15 pruritus 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000989
16 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
17 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
18 hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001395
19 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
20 jaundice 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000952
21 hypersplenism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001971
22 cachexia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0004326
23 primary adrenal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008207
24 hyponatremia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002902
25 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003124
26 diarrhea 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002014
27 stroke 59 32 frequent (33%) Frequent (79-30%) HP:0001297
28 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0001399
29 esophageal varix 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0002040
30 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003270
31 renal salt wasting 59 32 occasional (7.5%) Occasional (29-5%) HP:0000127
32 acidosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001941
33 hyperkalemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002153
34 hypernatriuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0012605
35 hypovolemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011106
36 abnormal urine potassium concentration 59 32 occasional (7.5%) Occasional (29-5%) HP:0012598
37 xanthelasma 59 32 frequent (33%) Frequent (79-30%) HP:0001114
38 adrenal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000846
39 hepatosplenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001433
40 psychomotor deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002361
41 elevated alkaline phosphatase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003155
42 steatorrhea 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002570
43 precocious atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004416
44 fatal liver failure in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006583
45 microvesicular hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001414
46 vacuolated lymphocytes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001922
47 bone-marrow foam cells 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004333
48 malnutrition 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0004395
49 adrenal calcification 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%),Very frequent (99-80%) HP:0010512
50 arteriosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002634

UMLS symptoms related to Lysosomal Acid Lipase Deficiency:


vomiting, diarrhea

MGI Mouse Phenotypes related to Lysosomal Acid Lipase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 ABCA1 COG6 LIPA MGAT1 SOAT2
2 liver/biliary system MP:0005370 8.92 ABCA1 COG6 LIPA SOAT2

Drugs & Therapeutics for Lysosomal Acid Lipase Deficiency

Drugs for Lysosomal Acid Lipase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Liver Extracts Phase 2, Phase 3,Phase 3,Phase 1
9 Prednisolone acetate Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
11 Methylprednisolone acetate Phase 2, Phase 3
12 Alkylating Agents Phase 2, Phase 3,Not Applicable
13 Immunologic Factors Phase 2, Phase 3,Not Applicable
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
15 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
16 Antilymphocyte Serum Phase 2, Phase 3
17
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
18
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
19 tannic acid Approved Phase 2,Not Applicable
20
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
21
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
24 Calcineurin Inhibitors Phase 2,Not Applicable
25 Antifungal Agents Phase 2,Not Applicable
26 Dermatologic Agents Phase 2,Not Applicable
27 Antimetabolites, Antineoplastic Phase 2,Not Applicable
28 Anti-Infective Agents Phase 2,Not Applicable
29 Cyclosporins Phase 2,Not Applicable
30 Antimetabolites Phase 2,Not Applicable
31 Nucleic Acid Synthesis Inhibitors Phase 2
32
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
33 Antitubercular Agents Not Applicable
34 Anti-Bacterial Agents Not Applicable
35 Antibiotics, Antitubercular Not Applicable
36 Hydroxymethylglutaryl-CoA Reductase Inhibitors

Interventional clinical trials:

(show all 28)
# 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 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)
3 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
4 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
5 Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
6 Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With 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
7 Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency Completed NCT01488097 Phase 2 sebelipase alfa
8 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
10 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
11 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Unknown status NCT01716728 Not Applicable
13 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Unknown status NCT02851550
14 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Unknown status NCT02852304
15 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
16 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
17 National Lysosomal Acid Lipase Deficiency Study Completed NCT02372513
18 An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Completed NCT01528917
19 A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype Completed NCT01358370
20 Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up Completed NCT01884220
21 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
22 Biomarker for Wolman Disease: BioWolman Recruiting NCT02383641
23 Lysosomal Acid Lipase (LAL) Deficiency Registry Recruiting NCT01633489
24 Lysosomal Acid Lipase Increase After Chetogenic Diet. Recruiting NCT03564002
25 Hypertriglyceridaemia - Cause and Effects Recruiting NCT02195050
26 An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency No longer available NCT02376751 sebelipase alfa
27 Screening for Lysosomal Acid Lipase Deficiency Terminated NCT02926872
28 A Study to Identify and Characterize LAL-D Patients in High-risk Populations Terminated NCT02345421

Search NIH Clinical Center for Lysosomal Acid Lipase Deficiency

Cochrane evidence based reviews: wolman disease

Genetic Tests for Lysosomal Acid Lipase Deficiency

Genetic tests related to Lysosomal Acid Lipase Deficiency:

# Genetic test Affiliating Genes
1 Lysosomal Acid Lipase Deficiency 29 LIPA
2 Wolman Disease 29
3 Cholesteryl Ester Storage Disease 29

Anatomical Context for Lysosomal Acid Lipase Deficiency

MalaCards organs/tissues related to Lysosomal Acid Lipase Deficiency:

41
Liver, Spleen, Adrenal Gland, Heart, Bone, Bone Marrow, Testes

Publications for Lysosomal Acid Lipase Deficiency

Articles related to Lysosomal Acid Lipase Deficiency:

(show top 50) (show all 137)
# Title Authors Year
1
Endoscopic Findings in Lysosomal Acid Lipase Deficiency. ( 29762191 )
2018
2
Mexican consensus on lysosomal acid lipase deficiency diagnosis. ( 29287906 )
2018
3
Benefit of Treatment With Sebelipase-Alfa in a 63-Year-Old Patient With Advanced Liver and Atherosclerotic Disease Due to Lysosomal Acid Lipase Deficiency (LAL-D). ( 29535442 )
2018
4
Lysosomal Acid Lipase Deficiency: could dyslipidemia drive the diagnosis? ( 29332587 )
2018
5
Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom. ( 29394260 )
2018
6
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency. ( 29374495 )
2018
7
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia. ( 29884776 )
2018
8
Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency. ( 29628368 )
2018
9
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. ( 29655841 )
2018
10
Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. ( 29705274 )
2018
11
Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan. ( 29731497 )
2018
12
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum. ( 29527374 )
2018
13
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis. ( 29702543 )
2018
14
The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease. ( 30540705 )
2018
15
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report. ( 29982809 )
2018
16
Hepatosteatosis from Lysosomal Acid Lipase Deficiency. ( 30084066 )
2018
17
A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency. ( 30249571 )
2018
18
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria. ( 30286343 )
2018
19
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. ( 30315827 )
2018
20
Fast progression of liver damage in lysosomal acid lipase deficiency. ( 28537522 )
2017
21
Lysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD). ( 28612634 )
2017
22
Wolman Disease: A Mimic of Infant Leukemia. ( 28538091 )
2017
23
[Lysosomal acid lipase deficiency (LAL-D) : Diagnostic and therapeutic options in an underdiagnosed disease]. ( 29234937 )
2017
24
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT. ( 29091130 )
2017
25
The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency. ( 28804516 )
2017
26
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management. ( 28285817 )
2017
27
Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics. ( 28659158 )
2017
28
Childhood/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases. ( 28391883 )
2017
29
Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. ( 28786388 )
2017
30
Lysosomal acid lipase deficiency in all siblings of the same parents. ( 28502515 )
2017
31
Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update. ( 28504497 )
2017
32
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? ( 28502505 )
2017
33
Cholesteryl Ester Crystals in Lysosomal Acid Lipase Deficiency. ( 28249129 )
2017
34
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. ( 28401034 )
2017
35
Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency. ( 28197978 )
2017
36
A Novel Homozygous<i>LIPA</i>Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency. ( 29302509 )
2017
37
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants. ( 28881270 )
2017
38
Lysosomal acid lipase deficiency: Expanding differential diagnosis. ( 27876313 )
2017
39
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. ( 28179030 )
2017
40
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. ( 28220406 )
2017
41
Progression of liver disease in children and adults with lysosomal acid lipase deficiency. ( 28320214 )
2017
42
Erratum to: Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency. ( 28343252 )
2017
43
Secondary hemophagocytic lymphohistiocytosis in an infant with Wolman disease Hemophagocytosis and Wolman disease. ( 27094156 )
2016
44
Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience. ( 27941191 )
2016
45
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. ( 26312827 )
2016
46
Reply to a Letter to the Editor Regarding the Original Article, Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015;61(6): 619-625. ( 27035378 )
2016
47
The Key Clinical Manifestations of Lysosomal Acid Lipase Deficiency. ( 27149255 )
2016
48
Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency. ( 27376161 )
2016
49
Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency. ( 27392817 )
2016
50
Management of Lysosomal Acid Lipase Deficiency for the Gastroenterologist and Hepatologist. ( 27499717 )
2016

Variations for Lysosomal Acid Lipase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Lysosomal Acid Lipase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 LIPA p.His129Pro VAR_004248
2 LIPA p.His129Arg VAR_004249 rs142391441
3 LIPA p.Leu200Pro VAR_004250 rs121965086

ClinVar genetic disease variations for Lysosomal Acid Lipase Deficiency:

6 (show top 50) (show all 175)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPA NM_000235.3(LIPA): c.599T> C (p.Leu200Pro) single nucleotide variant Likely pathogenic rs121965086 GRCh37 Chromosome 10, 90984925: 90984925
2 LIPA NM_000235.3(LIPA): c.599T> C (p.Leu200Pro) single nucleotide variant Likely pathogenic rs121965086 GRCh38 Chromosome 10, 89225168: 89225168
3 LIPA NM_000235.3(LIPA): c.796G> T (p.Gly266Ter) single nucleotide variant Pathogenic rs267607218 GRCh37 Chromosome 10, 90983467: 90983467
4 LIPA NM_000235.3(LIPA): c.796G> T (p.Gly266Ter) single nucleotide variant Pathogenic rs267607218 GRCh38 Chromosome 10, 89223710: 89223710
5 LIPA LIPA, 934G-A single nucleotide variant Pathogenic
6 LIPA NM_000235.3(LIPA): c.594dupT (p.Ala199Cysfs) duplication Likely pathogenic rs780495201 GRCh37 Chromosome 10, 90984930: 90984930
7 LIPA NM_000235.3(LIPA): c.594dupT (p.Ala199Cysfs) duplication Likely pathogenic rs780495201 GRCh38 Chromosome 10, 89225173: 89225173
8 LIPA LIPA, IVS8, G-A, +1 single nucleotide variant Pathogenic
9 LIPA NM_000235.3(LIPA): c.129C> G (p.Tyr43Ter) single nucleotide variant Pathogenic rs121965087 GRCh37 Chromosome 10, 91005533: 91005533
10 LIPA NM_000235.3(LIPA): c.129C> G (p.Tyr43Ter) single nucleotide variant Pathogenic rs121965087 GRCh38 Chromosome 10, 89245776: 89245776
11 LIPA LIPA, 1-BP DEL, 482A deletion Pathogenic
12 LIPA NM_001127605.2(LIPA): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic/Likely pathogenic rs587778878 GRCh37 Chromosome 10, 90988125: 90988125
13 LIPA NM_001127605.2(LIPA): c.260G> T (p.Gly87Val) single nucleotide variant Pathogenic/Likely pathogenic rs587778878 GRCh38 Chromosome 10, 89228368: 89228368
14 LIPA NM_000235.3(LIPA): c.1113A> G (p.Glu371=) single nucleotide variant Conflicting interpretations of pathogenicity rs116827211 GRCh37 Chromosome 10, 90974672: 90974672
15 LIPA NM_000235.3(LIPA): c.1113A> G (p.Glu371=) single nucleotide variant Conflicting interpretations of pathogenicity rs116827211 GRCh38 Chromosome 10, 89214915: 89214915
16 LIPA NM_000235.3(LIPA): c.46A> C (p.Thr16Pro) single nucleotide variant Benign rs1051338 GRCh37 Chromosome 10, 91007360: 91007360
17 LIPA NM_000235.3(LIPA): c.46A> C (p.Thr16Pro) single nucleotide variant Benign rs1051338 GRCh38 Chromosome 10, 89247603: 89247603
18 LIPA NM_000235.3(LIPA): c.894G> A (p.Gln298=) single nucleotide variant Pathogenic/Likely pathogenic rs116928232 GRCh38 Chromosome 10, 89222511: 89222511
19 LIPA NM_000235.3(LIPA): c.894G> A (p.Gln298=) single nucleotide variant Pathogenic/Likely pathogenic rs116928232 GRCh37 Chromosome 10, 90982268: 90982268
20 LIPA NM_000235.3(LIPA): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs797045094 GRCh38 Chromosome 10, 89228375: 89228375
21 LIPA NM_000235.3(LIPA): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs797045094 GRCh37 Chromosome 10, 90988132: 90988132
22 LIPA NM_000235.3(LIPA): c.539-5C> T single nucleotide variant Benign rs2297472 GRCh38 Chromosome 10, 89225233: 89225233
23 LIPA NM_000235.3(LIPA): c.539-5C> T single nucleotide variant Benign rs2297472 GRCh37 Chromosome 10, 90984990: 90984990
24 LIPA NM_000235.3(LIPA): c.67G> A (p.Gly23Arg) single nucleotide variant Benign/Likely benign rs1051339 GRCh38 Chromosome 10, 89247582: 89247582
25 LIPA NM_000235.3(LIPA): c.67G> A (p.Gly23Arg) single nucleotide variant Benign/Likely benign rs1051339 GRCh37 Chromosome 10, 91007339: 91007339
26 LIPA NM_000235.3(LIPA): c.846A> G (p.Thr282=) single nucleotide variant Uncertain significance rs534838107 GRCh37 Chromosome 10, 90982316: 90982316
27 LIPA NM_000235.3(LIPA): c.846A> G (p.Thr282=) single nucleotide variant Uncertain significance rs534838107 GRCh38 Chromosome 10, 89222559: 89222559
28 LIPA NM_000235.3(LIPA): c.398delC (p.Ser133Terfs) deletion Pathogenic rs756016704 GRCh37 Chromosome 10, 90987987: 90987987
29 LIPA NM_000235.3(LIPA): c.398delC (p.Ser133Terfs) deletion Pathogenic rs756016704 GRCh38 Chromosome 10, 89228230: 89228230
30 LIPA NM_000235.3(LIPA): c.*909T> A single nucleotide variant Benign rs1131706 GRCh38 Chromosome 10, 89213919: 89213919
31 LIPA NM_000235.3(LIPA): c.*909T> A single nucleotide variant Benign rs1131706 GRCh37 Chromosome 10, 90973676: 90973676
32 LIPA NM_000235.3(LIPA): c.*618G> C single nucleotide variant Uncertain significance rs886047469 GRCh37 Chromosome 10, 90973967: 90973967
33 LIPA NM_000235.3(LIPA): c.*618G> C single nucleotide variant Uncertain significance rs886047469 GRCh38 Chromosome 10, 89214210: 89214210
34 LIPA NM_000235.3(LIPA): c.*573T> A single nucleotide variant Uncertain significance rs769179666 GRCh37 Chromosome 10, 90974012: 90974012
35 LIPA NM_000235.3(LIPA): c.*573T> A single nucleotide variant Uncertain significance rs769179666 GRCh38 Chromosome 10, 89214255: 89214255
36 LIPA NM_000235.3(LIPA): c.*508C> T single nucleotide variant Uncertain significance rs116332581 GRCh37 Chromosome 10, 90974077: 90974077
37 LIPA NM_000235.3(LIPA): c.*508C> T single nucleotide variant Uncertain significance rs116332581 GRCh38 Chromosome 10, 89214320: 89214320
38 LIPA NM_000235.3(LIPA): c.754A> T (p.Ile252Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147493628 GRCh37 Chromosome 10, 90983509: 90983509
39 LIPA NM_000235.3(LIPA): c.754A> T (p.Ile252Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147493628 GRCh38 Chromosome 10, 89223752: 89223752
40 LIPA NM_000235.3(LIPA): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886047470 GRCh37 Chromosome 10, 90983550: 90983550
41 LIPA NM_000235.3(LIPA): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs886047470 GRCh38 Chromosome 10, 89223793: 89223793
42 LIPA NM_000235.3(LIPA): c.230-15A> G single nucleotide variant Uncertain significance rs199978109 GRCh37 Chromosome 10, 90988170: 90988170
43 LIPA NM_000235.3(LIPA): c.230-15A> G single nucleotide variant Uncertain significance rs199978109 GRCh38 Chromosome 10, 89228413: 89228413
44 LIPA NM_000235.3(LIPA): c.111+13A> G single nucleotide variant Uncertain significance rs375237841 GRCh37 Chromosome 10, 91007282: 91007282
45 LIPA NM_000235.3(LIPA): c.111+13A> G single nucleotide variant Uncertain significance rs375237841 GRCh38 Chromosome 10, 89247525: 89247525
46 LIPA NM_000235.3(LIPA): c.-71C> A single nucleotide variant Uncertain significance rs553435176 GRCh38 Chromosome 10, 89251806: 89251806
47 LIPA NM_000235.3(LIPA): c.-71C> A single nucleotide variant Uncertain significance rs553435176 GRCh37 Chromosome 10, 91011563: 91011563
48 LIPA NM_000235.3(LIPA): c.-85C> A single nucleotide variant Uncertain significance rs886047474 GRCh38 Chromosome 10, 89251820: 89251820
49 LIPA NM_000235.3(LIPA): c.-85C> A single nucleotide variant Uncertain significance rs886047474 GRCh37 Chromosome 10, 91011577: 91011577
50 LIPA NM_000235.3(LIPA): c.-123G> A single nucleotide variant Uncertain significance rs543830356 GRCh38 Chromosome 10, 89251858: 89251858

Expression for Lysosomal Acid Lipase Deficiency

Search GEO for disease gene expression data for Lysosomal Acid Lipase Deficiency.

Pathways for Lysosomal Acid Lipase Deficiency

Pathways related to Lysosomal Acid Lipase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100
2 Lysosome hsa04142

GO Terms for Lysosomal Acid Lipase Deficiency

Biological processes related to Lysosomal Acid Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.56 ABCA1 LIPA LIPF SOAT2
2 lipid transport GO:0006869 9.51 ABCA1 STAR
3 lipid catabolic process GO:0016042 9.49 LIPA LIPF
4 steroid metabolic process GO:0008202 9.48 ABCA1 SOAT2
5 cholesterol homeostasis GO:0042632 9.46 ABCA1 SOAT2
6 response to nutrient GO:0007584 9.43 ABCA1 STAR
7 cholesterol transport GO:0030301 9.4 ABCA1 STAR
8 cholesterol efflux GO:0033344 9.37 ABCA1 SOAT2
9 low-density lipoprotein particle clearance GO:0034383 9.32 LIPA SOAT2
10 intracellular cholesterol transport GO:0032367 9.16 ABCA1 STAR
11 cholesterol metabolic process GO:0008203 9.13 ABCA1 SOAT2 STAR
12 cellular lipid metabolic process GO:0044255 8.8 LIPA LIPF STAR

Molecular functions related to Lysosomal Acid Lipase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on ester bonds GO:0016788 9.26 LIPA LIPF
2 cholesterol transporter activity GO:0017127 9.16 ABCA1 STAR
3 lipase activity GO:0016298 8.96 LIPA LIPF
4 cholesterol binding GO:0015485 8.8 ABCA1 SOAT2 STAR

Sources for Lysosomal Acid Lipase Deficiency

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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