WOD
MCID: LYS012
MIFTS: 60

Lysosomal Acid Lipase Deficiency (WOD)

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 58 25 54 26 60 76 38 30 6 41
Wolman Disease 58 12 77 54 60 76 30 56 6 45 15 74
Cholesteryl Ester Storage Disease 58 54 60 76 30 13 56 6
Lal Deficiency 58 25 54 26 60 76
Cholesterol Ester Storage Disease 54 60 76 74
Lipa Deficiency 58 54 26 76
Cholesterol Ester Hydrolase Deficiency 58 54 76
Acid Lipase Deficiency 12 25 26
Cesd 58 54 76
Acid Esterase Deficiency 12 26
Familial Xanthomatosis 54 26
Wolman's Disease 12 55
Primary Familial Xanthomatosis with Adrenal Calcification 26
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 74
Wolman's or Triglyceride Storage Type Iii Disease 12
Liposomal Acid Lipase Deficiency, Wolman Type 54
Cholesteryl Ester Storage Disease; Cesd 58
Familial Visceral Xanthomatosis 26
Primary Familial Xanthomatosis 26
Xanthomatosis, Familial 12
Wolman Xanthomatosis 12
Acid Lipase Disease 55
Wod 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
lysosomal acid lipase deficiency:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lysosomal Acid Lipase Deficiency

NINDS : 55 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 Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and adrenal gland, and related phenotypes are nausea and vomiting and global developmental delay

Genetics Home Reference : 26 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 : 54 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 : 58 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 : 76 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 : 77 Lysosomal acid lipase deficiency (LAL deficiency or LAL-D), is an autosomal recessive inborn error of... more...

GeneReviews: NBK305870

Related Diseases for Lysosomal Acid Lipase Deficiency

Diseases related to Lysosomal Acid Lipase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 cholesterol ester storage disease 31.8 LIPA LIPF
2 hypercholesterolemia, familial 29.4 ABCA1 LIPA SOAT2
3 wolman disease with hypolipoproteinemia and acanthocytosis 12.2
4 liver disease 10.4
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4
6 liver cirrhosis 10.2
7 lipid metabolism disorder 10.2
8 fatty liver disease 10.2
9 cholangiocarcinoma 10.1
10 diarrhea 10.1
11 vascular disease 10.1
12 splenic abscess 10.1
13 intrahepatic cholangiocarcinoma 10.1
14 splenomegaly 10.1
15 combined hepatocellular carcinoma and cholangiocarcinoma 10.1
16 abetalipoproteinemia 10.0
17 hypolipoproteinemia 10.0
18 sea-blue histiocyte disease 10.0
19 histiocytosis 10.0
20 cerebrotendinous xanthomatosis 10.0
21 body mass index quantitative trait locus 11 10.0
22 xanthomatosis 10.0
23 body mass index quantitative trait locus 8 10.0
24 body mass index quantitative trait locus 10 10.0
25 body mass index quantitative trait locus 7 10.0
26 body mass index quantitative trait locus 14 10.0
27 infantile liver failure syndrome 1 10.0
28 body mass index quantitative trait locus 18 10.0
29 body mass index quantitative trait locus 19 10.0
30 hemophagocytic lymphohistiocytosis 10.0
31 nonalcoholic fatty liver disease 10.0
32 lipid storage disease 10.0
33 nephrotic syndrome, type 14 10.0
34 hematopoietic stem cell transplantation 10.0
35 leukemia 10.0
36 nephrotic syndrome 10.0
37 hypogonadism 10.0
38 myopathy 10.0
39 hypogonadotropism 10.0
40 hyperlipoproteinemia, type iii 9.8
41 heart disease 9.8
42 lysosomal and lipase deficiency 9.2 COG6 LIPA MGAT1 SOAT2

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

Human phenotypes related to Lysosomal Acid Lipase Deficiency:

60 33 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0002017
2 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001263
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002240
4 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002155
5 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
6 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
7 hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001395
8 jaundice 60 33 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000952
9 hepatic failure 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0001399
10 hypercholesterolemia 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003124
11 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003270
12 hepatosplenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001433
13 elevated alkaline phosphatase 60 33 hallmark (90%) Very frequent (99-80%) HP:0003155
14 steatorrhea 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002570
15 fatal liver failure in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006583
16 microvesicular hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001414
17 vacuolated lymphocytes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001922
18 adrenal calcification 60 33 hallmark (90%) Very frequent (99-80%),Occasional (29-5%),Very frequent (99-80%) HP:0010512
19 splenomegaly 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
20 ascites 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001541
21 anemia 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001903
22 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
23 cachexia 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0004326
24 diarrhea 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002014
25 stroke 60 33 frequent (33%) Frequent (79-30%) HP:0001297
26 esophageal varix 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0002040
27 xanthelasma 60 33 frequent (33%) Frequent (79-30%) HP:0001114
28 malnutrition 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0004395
29 precocious atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0004416
30 arteriosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0002634
31 coronary artery atherosclerosis 33 frequent (33%) HP:0001677
32 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
33 hypotension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002615
34 dehydration 60 33 occasional (7.5%) Occasional (29-5%) HP:0001944
35 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
36 vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002013
37 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
38 pruritus 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000989
39 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
40 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
41 hypersplenism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001971
42 primary adrenal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0008207
43 hyponatremia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002902
44 renal salt wasting 60 33 occasional (7.5%) Occasional (29-5%) HP:0000127
45 acidosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001941
46 hyperkalemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002153
47 hypernatriuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0012605
48 hypovolemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011106
49 abnormal urine potassium concentration 60 33 occasional (7.5%) Occasional (29-5%) HP:0012598
50 adrenal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000846

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Lysosomal Acid Lipase Deficiency:


vomiting, diarrhea

MGI Mouse Phenotypes related to Lysosomal Acid Lipase Deficiency:

47
# 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 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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 Antineoplastic Agents, Alkylating 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 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
15 Antilymphocyte Serum Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
17
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
20
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
21
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
22
tannic acid Approved Phase 2,Not Applicable 1401-55-4
23
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
24 Antifungal Agents Phase 2,Not Applicable
25 Dermatologic Agents Phase 2,Not Applicable
26 Antimetabolites Phase 2,Not Applicable
27 Antineoplastic Agents, Immunological Phase 2,Not Applicable
28 Antimetabolites, Antineoplastic Phase 2,Not Applicable
29 Nucleic Acid Synthesis Inhibitors Phase 2
30 Calcineurin Inhibitors Phase 2,Not Applicable
31 Cyclosporins Phase 2,Not Applicable
32 Anti-Infective Agents Phase 2,Not Applicable
33
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
34 Antitubercular Agents Not Applicable
35 Antibiotics, Antitubercular Not Applicable
36 Anti-Bacterial Agents Not Applicable
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Unknown status NCT01757184 Phase 3 SBC-102 [sebelipase alfa] (1 mg/kg);Placebo
2 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
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 30 LIPA
2 Wolman Disease 30
3 Cholesteryl Ester Storage Disease 30

Anatomical Context for Lysosomal Acid Lipase Deficiency

MalaCards organs/tissues related to Lysosomal Acid Lipase Deficiency:

42
Liver, Spleen, Adrenal Gland, Heart, Bone, Bone Marrow, Brain

Publications for Lysosomal Acid Lipase Deficiency

Articles related to Lysosomal Acid Lipase Deficiency:

(show top 50) (show all 144)
# Title Authors Year
1
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis. ( 29702543 )
2019
2
Hepatosteatosis from Lysosomal Acid Lipase Deficiency. ( 30084066 )
2019
3
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. ( 30315827 )
2019
4
Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation. ( 30639734 )
2019
5
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. ( 30684275 )
2019
6
Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study. ( 31004967 )
2019
7
The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease. ( 30540705 )
2018
8
Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. ( 29705274 )
2018
9
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report. ( 29982809 )
2018
10
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia. ( 29884776 )
2018
11
Endoscopic Findings in Lysosomal Acid Lipase Deficiency. ( 29762191 )
2018
12
Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan. ( 29731497 )
2018
13
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. ( 29655841 )
2018
14
Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency. ( 29628368 )
2018
15
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
16
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum. ( 29527374 )
2018
17
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
18
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency. ( 29374495 )
2018
19
Mexican consensus on lysosomal acid lipase deficiency diagnosis. ( 29287906 )
2018
20
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT. ( 29091130 )
2018
21
A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency. ( 30249571 )
2018
22
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria. ( 30286343 )
2018
23
Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. ( 30596627 )
2018
24
[Lysosomal acid lipase deficiency (LAL-D) : Diagnostic and therapeutic options in an underdiagnosed disease]. ( 29234937 )
2018
25
Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. ( 30596605 )
2018
26
Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics. ( 28659158 )
2017
27
Wolman Disease: A Mimic of Infant Leukemia. ( 28538091 )
2017
28
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. ( 28401034 )
2017
29
Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease. ( 27094156 )
2017
30
Lysosomal Acid Lipase Deficiency: Could Dyslipidemia Drive the Diagnosis? ( 29332587 )
2017
31
A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency. ( 29302509 )
2017
32
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
33
The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency. ( 28804516 )
2017
34
Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. ( 28786388 )
2017
35
Fast progression of liver damage in lysosomal acid lipase deficiency. ( 28537522 )
2017
36
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
37
Lysosomal acid lipase deficiency in all siblings of the same parents. ( 28502515 )
2017
38
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? ( 28502505 )
2017
39
Childhood/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease-four new pediatric cases. ( 28391883 )
2017
40
Erratum to: Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency. ( 28343252 )
2017
41
Progression of liver disease in children and adults with lysosomal acid lipase deficiency. ( 28320214 )
2017
42
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management. ( 28285817 )
2017
43
Cholesteryl Ester Crystals in Lysosomal Acid Lipase Deficiency. ( 28249129 )
2017
44
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. ( 28220406 )
2017
45
Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency. ( 28197978 )
2017
46
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. ( 28179030 )
2017
47
Lysosomal acid lipase deficiency: Expanding differential diagnosis. ( 27876313 )
2017
48
Lysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD). ( 28612634 )
2017
49
Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency. ( 27392817 )
2016
50
Sebelipase alfa: enzymatic replacement treatment for lysosomal acid lipase deficiency. ( 27376161 )
2016

Variations for Lysosomal Acid Lipase Deficiency

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

76
# 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 173)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPA NM_000235.3(LIPA): c.129C> G (p.Tyr43Ter) single nucleotide variant Pathogenic rs121965087 GRCh38 Chromosome 10, 89245776: 89245776
2 LIPA NM_000235.3(LIPA): c.853C> T (p.Pro285Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 89222552: 89222552
3 LIPA NM_000235.3(LIPA): c.853C> T (p.Pro285Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 90982309: 90982309
4 LIPA NM_000235.3(LIPA): c.966+3A> T single nucleotide variant Uncertain significance rs201242614 GRCh38 Chromosome 10, 89215935: 89215935
5 LIPA NM_000235.3(LIPA): c.966+3A> T single nucleotide variant Uncertain significance rs201242614 GRCh37 Chromosome 10, 90975692: 90975692
6 LIPA NM_000235.3(LIPA): c.683T> C (p.Phe228Ser) single nucleotide variant Uncertain significance rs2228159 GRCh38 Chromosome 10, 89223823: 89223823
7 LIPA NM_000235.3(LIPA): c.683T> C (p.Phe228Ser) single nucleotide variant Uncertain significance rs2228159 GRCh37 Chromosome 10, 90983580: 90983580
8 LIPA NM_000235.3(LIPA): c.894G> C (p.Gln298His) single nucleotide variant Likely pathogenic rs116928232 GRCh37 Chromosome 10, 90982268: 90982268
9 LIPA NM_000235.3(LIPA): c.894G> C (p.Gln298His) single nucleotide variant Likely pathogenic rs116928232 GRCh38 Chromosome 10, 89222511: 89222511
10 LIPA NM_000235.3(LIPA): c.539-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201898154 GRCh38 Chromosome 10, 89225234: 89225234
11 LIPA NM_000235.3(LIPA): c.539-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201898154 GRCh37 Chromosome 10, 90984991: 90984991
12 LIPA NM_000235.3(LIPA): c.616G> A (p.Val206Ile) single nucleotide variant Uncertain significance rs756878837 GRCh38 Chromosome 10, 89225151: 89225151
13 LIPA NM_000235.3(LIPA): c.616G> A (p.Val206Ile) single nucleotide variant Uncertain significance rs756878837 GRCh37 Chromosome 10, 90984908: 90984908
14 LIPA NM_000235.3(LIPA): c.1009A> G (p.Thr337Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143793106 GRCh38 Chromosome 10, 89215019: 89215019
15 LIPA NM_000235.3(LIPA): c.1009A> G (p.Thr337Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143793106 GRCh37 Chromosome 10, 90974776: 90974776
16 LIPA NM_000235.3(LIPA): c.*151C> T single nucleotide variant Uncertain significance rs767578516 GRCh38 Chromosome 10, 89214677: 89214677
17 LIPA NM_000235.3(LIPA): c.*151C> T single nucleotide variant Uncertain significance rs767578516 GRCh37 Chromosome 10, 90974434: 90974434
18 LIPA NM_000235.3(LIPA): c.*804C> T single nucleotide variant Uncertain significance rs886047468 GRCh37 Chromosome 10, 90973781: 90973781
19 LIPA NM_000235.3(LIPA): c.*804C> T single nucleotide variant Uncertain significance rs886047468 GRCh38 Chromosome 10, 89214024: 89214024
20 LIPA NM_000235.3(LIPA): c.*841C> T single nucleotide variant Uncertain significance rs116074523 GRCh37 Chromosome 10, 90973744: 90973744
21 LIPA NM_000235.3(LIPA): c.*841C> T single nucleotide variant Uncertain significance rs116074523 GRCh38 Chromosome 10, 89213987: 89213987
22 LIPA NM_000235.3(LIPA): c.*949C> T single nucleotide variant Uncertain significance rs755914073 GRCh37 Chromosome 10, 90973636: 90973636
23 LIPA NM_000235.3(LIPA): c.*949C> T single nucleotide variant Uncertain significance rs755914073 GRCh38 Chromosome 10, 89213879: 89213879
24 LIPA NM_000235.3(LIPA): c.*1045C> T single nucleotide variant Uncertain significance rs561490465 GRCh37 Chromosome 10, 90973540: 90973540
25 LIPA NM_000235.3(LIPA): c.*1045C> T single nucleotide variant Uncertain significance rs561490465 GRCh38 Chromosome 10, 89213783: 89213783
26 LIPA NM_000235.3(LIPA): c.*1187C> A single nucleotide variant Likely benign rs78931290 GRCh37 Chromosome 10, 90973398: 90973398
27 LIPA NM_000235.3(LIPA): c.*1187C> A single nucleotide variant Likely benign rs78931290 GRCh38 Chromosome 10, 89213641: 89213641
28 LIPA NM_000235.3(LIPA): c.-80T> C single nucleotide variant Uncertain significance rs539948724 GRCh37 Chromosome 10, 91011572: 91011572
29 LIPA NM_000235.3(LIPA): c.-80T> C single nucleotide variant Uncertain significance rs539948724 GRCh38 Chromosome 10, 89251815: 89251815
30 LIPA NM_000235.3(LIPA): c.-48G> A single nucleotide variant Uncertain significance rs886047473 GRCh38 Chromosome 10, 89251783: 89251783
31 LIPA NM_000235.3(LIPA): c.-48G> A single nucleotide variant Uncertain significance rs886047473 GRCh37 Chromosome 10, 91011540: 91011540
32 LIPA NM_000235.3(LIPA): c.50T> C (p.Leu17Pro) single nucleotide variant Uncertain significance rs886047472 GRCh38 Chromosome 10, 89247599: 89247599
33 LIPA NM_000235.3(LIPA): c.50T> C (p.Leu17Pro) single nucleotide variant Uncertain significance rs886047472 GRCh37 Chromosome 10, 91007356: 91007356
34 LIPA NM_000235.3(LIPA): c.615C> T (p.Ser205=) single nucleotide variant Uncertain significance rs143930279 GRCh38 Chromosome 10, 89225152: 89225152
35 LIPA NM_000235.3(LIPA): c.615C> T (p.Ser205=) single nucleotide variant Uncertain significance rs143930279 GRCh37 Chromosome 10, 90984909: 90984909
36 LIPA NM_000235.3(LIPA): c.967-13C> A single nucleotide variant Uncertain significance rs762226885 GRCh38 Chromosome 10, 89215074: 89215074
37 LIPA NM_000235.3(LIPA): c.967-13C> A single nucleotide variant Uncertain significance rs762226885 GRCh37 Chromosome 10, 90974831: 90974831
38 LIPA NM_000235.3(LIPA): c.*385C> A single nucleotide variant Uncertain significance rs763288984 GRCh38 Chromosome 10, 89214443: 89214443
39 LIPA NM_000235.3(LIPA): c.*491A> G single nucleotide variant Uncertain significance rs115701525 GRCh38 Chromosome 10, 89214337: 89214337
40 LIPA NM_000235.3(LIPA): c.*491A> G single nucleotide variant Uncertain significance rs115701525 GRCh37 Chromosome 10, 90974094: 90974094
41 LIPA NM_000235.3(LIPA): c.*544G> T single nucleotide variant Uncertain significance rs187747826 GRCh37 Chromosome 10, 90974041: 90974041
42 LIPA NM_000235.3(LIPA): c.*544G> T single nucleotide variant Uncertain significance rs187747826 GRCh38 Chromosome 10, 89214284: 89214284
43 LIPA NM_000235.3(LIPA): c.*744C> G single nucleotide variant Uncertain significance rs41284116 GRCh37 Chromosome 10, 90973841: 90973841
44 LIPA NM_000235.3(LIPA): c.*744C> G single nucleotide variant Uncertain significance rs41284116 GRCh38 Chromosome 10, 89214084: 89214084
45 LIPA NM_000235.3(LIPA): c.*385C> A single nucleotide variant Uncertain significance rs763288984 GRCh37 Chromosome 10, 90974200: 90974200
46 LIPA NM_000235.3(LIPA): c.*841C> G single nucleotide variant Likely benign rs116074523 GRCh37 Chromosome 10, 90973744: 90973744
47 LIPA NM_000235.3(LIPA): c.*841C> G single nucleotide variant Likely benign rs116074523 GRCh38 Chromosome 10, 89213987: 89213987
48 LIPA NM_000235.3(LIPA): c.*1091T> C single nucleotide variant Uncertain significance rs886047465 GRCh37 Chromosome 10, 90973494: 90973494
49 LIPA NM_000235.3(LIPA): c.*1091T> C single nucleotide variant Uncertain significance rs886047465 GRCh38 Chromosome 10, 89213737: 89213737
50 LIPA NM_000235.3(LIPA): c.*1205T> G single nucleotide variant Uncertain significance rs886047464 GRCh37 Chromosome 10, 90973380: 90973380

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:

38
# 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:

# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.43 ABCA1 SOAT2
2 cholesterol homeostasis GO:0042632 9.4 ABCA1 SOAT2
3 cholesterol metabolic process GO:0008203 9.37 ABCA1 SOAT2
4 cellular lipid metabolic process GO:0044255 9.32 LIPA LIPF
5 cholesterol efflux GO:0033344 9.26 ABCA1 SOAT2
6 lipid metabolic process GO:0006629 9.26 ABCA1 LIPA LIPF SOAT2
7 low-density lipoprotein particle clearance GO:0034383 9.16 LIPA SOAT2
8 lipid catabolic process GO:0016042 8.8 LIPF CES4A LIPA

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.32 ABCA1 SOAT2
2 hydrolase activity, acting on ester bonds GO:0016788 9.26 LIPA LIPF
3 triglyceride lipase activity GO:0004806 9.16 CES4A LIPF
4 lipase activity GO:0016298 8.96 LIPA LIPF
5 sterol esterase activity GO:0004771 8.62 CES4A LIPA

Sources for Lysosomal Acid Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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