CESD
MCID: LYS012
MIFTS: 64

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 25 20 43 58 72 36 29 6 39
Wolman Disease 57 12 73 20 58 72 29 54 6 44 15 70
Cholesteryl Ester Storage Disease 57 20 58 72 29 13 54 6
Lal Deficiency 57 25 20 43 58 72
Cholesterol Ester Storage Disease 20 58 72 70
Lipa Deficiency 57 20 43 72
Cholesterol Ester Hydrolase Deficiency 57 20 72
Acid Lipase Deficiency 12 25 43
Cesd 57 20 72
Acid Esterase Deficiency 12 43
Familial Xanthomatosis 20 43
Wolman's Disease 12 53
Primary Familial Xanthomatosis with Adrenal Calcification 43
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 70
Wolman's or Triglyceride Storage Type Iii Disease 12
Liposomal Acid Lipase Deficiency, Wolman Type 20
Cholesteryl Ester Storage Disease; Cesd 57
Familial Visceral Xanthomatosis 43
Primary Familial Xanthomatosis 43
Xanthomatosis, Familial 12
Wolman Xanthomatosis 12
Acid Lipase Disease 53
Wod 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
lysosomal acid lipase deficiency:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Lysosomal Acid Lipase Deficiency

MedlinePlus Genetics : 43 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.In the severe, early-onset form of lysosomal acid lipase deficiency, lipids accumulate throughout the body, particularly in the liver, within the first weeks of life. This accumulation of lipids leads to several health problems, including an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption). In addition, affected infants often have calcium deposits in small hormone-producing glands on top of each kidney (adrenal glands), low amounts of iron in the blood (anemia), and developmental delay. Scar tissue quickly builds up in the liver, leading to liver disease (cirrhosis). Infants with this form of lysosomal acid lipase deficiency develop multi-organ failure and severe malnutrition and generally do not survive past 1 year.In the later-onset form of lysosomal acid lipase deficiency, signs and symptoms vary and usually begin in mid-childhood, although they can appear anytime up to late adulthood. Nearly all affected individuals develop an enlarged liver (hepatomegaly); an enlarged spleen (splenomegaly) may also occur. About two-thirds of individuals have liver fibrosis, eventually leading to cirrhosis. Approximately one-third of individuals with the later-onset form have malabsorption, diarrhea, vomiting, and steatorrhea. Individuals with this form of lysosomal acid lipase deficiency may have increased liver enzymes and high cholesterol levels, which can be detected with blood tests.Some people with this later-onset form of lysosomal acid lipase deficiency develop an accumulation of fatty deposits on the artery walls (atherosclerosis). Although these deposits are common in the general population, they usually begin at an earlier age in people with lysosomal acid lipase deficiency. The deposits narrow the arteries, increasing the chance of heart attack or stroke. The expected lifespan of individuals with later-onset lysosomal acid lipase deficiency depends on the severity of the associated health problems.The two forms of lysosomal acid lipase deficiency were once thought to be separate disorders. The early-onset form was known as Wolman disease, and the later-onset form was known as cholesteryl ester storage disease. Although these two disorders have the same genetic cause and are now considered to be forms of a single condition, these names are still sometimes used to distinguish between the forms of lysosomal acid lipase deficiency.

MalaCards based summary : Lysosomal Acid Lipase Deficiency, also known as wolman disease, is related to cholesterol ester storage disease and lysosomal storage disease, 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 Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and bone marrow, and related phenotypes are nausea and vomiting and global developmental delay

GARD : 20 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) (Updated 05-Apr-2021)

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.

KEGG : 36 Lysosomal acid lipase (LAL) deficiency is autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency.

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 cholesterol ester storage disease 31.1 TFEB STAP1 PNPLA5 LIPF LIPE LIPA
2 lysosomal storage disease 30.3 SMPD1 NPC2 NPC1 M6PR LIPA CHIT1
3 sea-blue histiocyte disease 30.2 STAP1 PNPLA5 LIPA
4 niemann-pick disease, type c1 30.1 SMPD1 NPC2 NPC1 LIPA ABCA1
5 inherited metabolic disorder 30.0 NPC2 NPC1 LIPA ABCA1
6 mucolipidosis ii alpha/beta 29.9 SMPD1 NPC1 M6PR
7 niemann-pick disease 29.6 TFEB SMPD1 NPC2 NPC1 M6PR LIPA
8 lipid storage disease 29.6 SMPD1 PNPLA2 NPC2 NPC1 LIPA CHIT1
9 gaucher's disease 29.4 TFEB SMPD1 NPC2 NPC1 M6PR LIPA
10 wolman disease with hypolipoproteinemia and acanthocytosis 11.2
11 lipid metabolism disorder 10.8
12 non-alcoholic fatty liver disease 10.7
13 liver disease 10.7
14 fatty liver disease 10.7
15 autosomal recessive disease 10.6
16 hypercholesterolemia, familial, 1 10.5
17 splenomegaly 10.4
18 fatty liver disease, nonalcoholic 1 10.4
19 cholangiocarcinoma 10.4
20 intrahepatic cholangiocarcinoma 10.4
21 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.3
22 deficiency anemia 10.3
23 pulmonary hypertension 10.3
24 familial hypercholesterolemia 10.3
25 liver cirrhosis 10.3
26 cryptogenic cirrhosis 10.3
27 hypertriglyceridemia, familial 10.3
28 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
29 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
30 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
31 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
32 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
33 familial hyperlipidemia 10.3
34 acid sphingomyelinase deficiency 10.2 SMPD1 NPC1
35 atherosclerosis susceptibility 10.2
36 varicose veins 10.2
37 hemophagocytic lymphohistiocytosis 10.2
38 esophageal varix 10.2
39 vascular disease 10.2
40 lysosomal disease 10.2
41 fusariosis 10.2 LIPM LIPJ
42 niemann-pick disease, type c2 10.2 SMPD1 NPC2 NPC1
43 optic atrophy 6 10.2 LIPM LIPK
44 hepatocellular carcinoma 10.1
45 fibrosis of extraocular muscles, congenital, 1 10.1
46 gallbladder disease 1 10.1
47 splenic abscess 10.1
48 vaccinia 10.1
49 end stage renal disease 10.1
50 sandhoff disease 10.1 SMPD1 NPC2 NPC1

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:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0002017
2 global developmental delay 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0001263
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002240
4 hypertriglyceridemia 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002155
5 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
6 hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001395
7 jaundice 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0000952
8 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
9 hypercholesterolemia 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0003124
10 hepatic failure 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0001399
11 steatorrhea 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002570
12 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
13 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003270
14 adrenal calcification 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%),Very frequent (99-80%) HP:0010512
15 elevated alkaline phosphatase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003155
16 microvesicular hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001414
17 vacuolated lymphocytes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001922
18 fatal liver failure in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006583
19 splenomegaly 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
20 anemia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001903
21 ascites 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001541
22 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
23 cachexia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0004326
24 stroke 58 31 frequent (33%) Frequent (79-30%) HP:0001297
25 esophageal varix 58 31 frequent (33%) Occasional (29-5%),Occasional (29-5%),Frequent (79-30%) HP:0002040
26 diarrhea 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002014
27 xanthelasma 58 31 frequent (33%) Frequent (79-30%) HP:0001114
28 arteriosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002634
29 malnutrition 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0004395
30 precocious atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0004416
31 coronary artery atherosclerosis 31 frequent (33%) HP:0001677
32 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
33 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
34 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
35 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
36 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
37 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
38 hypersplenism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001971
39 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
40 hyperkalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002153
41 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
42 primary adrenal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008207
43 pruritus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000989
44 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
45 psychomotor deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002361
46 bone-marrow foam cells 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004333
47 adrenal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000846
48 hypovolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011106
49 renal salt wasting 58 31 occasional (7.5%) Occasional (29-5%) HP:0000127
50 hypernatriuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012605

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
vomiting
steatorrhea
diarrhea
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 (Updated 05-Apr-2021)

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 9.7 ABCA1 ABHD5 LIPA LIPE M6PR NPC1
2 liver/biliary system MP:0005370 9.28 ABCA1 ABHD5 LIPA LIPE NPC1 NPC2

Drugs & Therapeutics for Lysosomal Acid Lipase Deficiency

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
6
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
7 Methylprednisolone Acetate Phase 2, Phase 3
8 Antilymphocyte Serum Phase 2, Phase 3
9
Hydroxyurea Approved Phase 2 127-07-1 3657
10
Melphalan Approved Phase 2 148-82-3 4053 460612
11
tannic acid Approved Phase 2 1401-55-4
12
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
13
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
16
alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
18
Busulfan Approved, Investigational Phase 2 55-98-1 2478
19 Anti-Infective Agents Phase 2
20 Cyclosporins Phase 2
21 Dermatologic Agents Phase 2
22 Antimetabolites Phase 2
23 Calcineurin Inhibitors Phase 2
24 Antifungal Agents Phase 2
25 Liver Extracts Phase 2
26 Alkylating Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Antirheumatic Agents Phase 2
29 Immunologic Factors Phase 2
30 Antineoplastic Agents, Immunological Phase 2
31
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
2 A Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency Completed NCT01757184 Phase 3 Sebelipase Alfa;Placebo
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 A Randomized Controlled Trial: Does Immediate Lymphatic Reconstruction Decrease the Incidence of Lymphedema After Axillary Lymph Node Dissection Recruiting NCT04241341 Phase 3
5 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
6 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
7 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
8 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Terminated NCT02193867 Phase 2 Sebelipase Alfa
10 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
11 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). Not yet recruiting NCT04532047 Phase 1 Aldurazyme (laronidase)
13 Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Unknown status NCT01716728
14 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
15 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Unknown status NCT02851550
16 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Unknown status NCT02852304
17 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
18 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
19 An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Completed NCT01528917
20 The Frequency of Cholesteryl Ester Storage Disease in Children With Unexplained Transaminase Elevation and Chronic Liver Disease Completed NCT02372513
21 A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype Completed NCT01358370
22 Mindfulness-Based College: Stage 1 Randomized Controlled Trial for Emerging Adult Well-Being Completed NCT03124446
23 An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency Recruiting NCT01633489
24 Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity Recruiting NCT03564002
25 Prevalence and Mutation Rate of Lipa Gene in LIPIGEN Subjects With Clinical Diagnosis of FH Recruiting NCT03984149
26 Breakfast for Young Women Recruiting NCT04652713
27 Biomarker for Wolman Disease, AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02383641
28 Prevalence and Risk Factors of Women Mental Health Disorders in Assiut Governorate Not yet recruiting NCT04792671
29 AN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY No longer available NCT02376751 sebelipase alfa
30 A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations Terminated NCT02345421
31 SCREENING FOR LYSOSOMAL ACID LIPASE DEFICIENCY AS THE UNDERLYING SOURCE OF HEPATIC INJURY IN PEDIATRIC PATIENTS WITH EVIDENCE OF ABNORMAL CLINICAL OR BIOCHEMICAL TESTS (DETECT) Terminated NCT02926872

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:

40
Liver, Spleen, Bone Marrow, Bone, Lymph Node, Myeloid, Endothelial

Publications for Lysosomal Acid Lipase Deficiency

Articles related to Lysosomal Acid Lipase Deficiency:

(show top 50) (show all 325)
# Title Authors PMID Year
1
Intragenic deletion as a novel type of mutation in Wolman disease. 6 25 57 61
21963785 2011
2
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. 54 25 6 57
8254026 1993
3
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 54 61 57 6
8617513 1996
4
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 57 6 54 61
8146180 1994
5
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease. 6 61 25 54
18775687 2008
6
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 61 54 6 25
11441129 2001
7
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. 54 25 6 61
10627498 2000
8
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 54 25 6 61
10562460 1999
9
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). 6 25 54 61
7759067 1995
10
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. 57 61 25
26352813 2015
11
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. 61 6 25
24993530 2014
12
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 6 25 61
24792990 2014
13
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 61 6 25
23424026 2013
14
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 25 6 61
23583223 2013
15
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 25 6 61
22227072 2012
16
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 61 25 6
21291321 2011
17
Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. 54 25 6
16255772 2005
18
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 54 25 6
8894696 1996
19
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. 25 6
24072694 2013
20
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. 25 6
23485521 2013
21
Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 25 6
23430518 2013
22
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. 54 61 6
9925650 1999
23
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 6 54 61
9684740 1998
24
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. 61 54 6
8864960 1996
25
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. 6 54 61
8598644 1995
26
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 6 61
31180157 2019
27
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. 61 6
31412917 2019
28
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency. 6 61
31230978 2019
29
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. 61 6
30684275 2019
30
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. 6 61
28881270 2017
31
Lysosomal acid lipase deficiency in all siblings of the same parents. 61 6
28502515 2017
32
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. 6 61
28220406 2017
33
Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease. 6 61
27624512 2016
34
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. 61 57
26312827 2016
35
Clinical Features of Lysosomal Acid Lipase Deficiency. 61 6
26252914 2015
36
Identification and metabolic profiling of patients with lysosomal acid lipase deficiency. 6 61
26350820 2015
37
New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease). 61 6
24048164 2015
38
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. 6 61
25624737 2015
39
Infant case of lysosomal acid lipase deficiency: Wolman's disease. 6 61
24832708 2014
40
Structural bases of Wolman disease and cholesteryl ester storage disease. 61 6
22138108 2012
41
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. 61 6
21757691 2011
42
Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India. 61 25 54
18174560 2007
43
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. 61 25 54
17033804 2007
44
Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin. 61 25 54
16848116 2006
45
Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report. 25 61 54
15818756 2005
46
Enzyme therapy for lysosomal acid lipase deficiency in the mouse. 61 57
11487567 2001
47
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. 57 61
9700186 1998
48
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. 6 54
9554751 1998
49
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. 6 54
9367797 1997
50
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. 6 61
8956047 1996

Variations for Lysosomal Acid Lipase Deficiency

ClinVar genetic disease variations for Lysosomal Acid Lipase Deficiency:

6 (show top 50) (show all 234)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPA NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) SNV Pathogenic 78 rs267607218 GRCh37: 10:90983467-90983467
GRCh38: 10:89223710-89223710
2 LIPA LIPA, 934G-A SNV Pathogenic 79 GRCh37:
GRCh38:
3 LIPA NM_000235.4(LIPA):c.594dup (p.Ala199fs) Duplication Pathogenic 80 rs780495201 GRCh37: 10:90984929-90984930
GRCh38: 10:89225172-89225173
4 LIPA NM_000235.4(LIPA):c.894+1G>A SNV Pathogenic 81 rs1564751995 GRCh37: 10:90982267-90982267
GRCh38: 10:89222510-89222510
5 LIPA NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter) SNV Pathogenic 82 rs121965087 GRCh37: 10:91005533-91005533
GRCh38: 10:89245776-89245776
6 LIPA NM_000235.4(LIPA):c.482del (p.Asn161fs) Deletion Pathogenic 552285 rs762559980 GRCh37: 10:90986708-90986708
GRCh38: 10:89226951-89226951
7 LIPA NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) SNV Pathogenic 208594 rs797045094 GRCh37: 10:90988132-90988132
GRCh38: 10:89228375-89228375
8 LIPA NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) SNV Pathogenic 77 rs121965086 GRCh37: 10:90984925-90984925
GRCh38: 10:89225168-89225168
9 LIPA NM_000235.4(LIPA):c.594dup (p.Ala199fs) Duplication Pathogenic 80 rs780495201 GRCh37: 10:90984929-90984930
GRCh38: 10:89225172-89225173
10 LIPA NM_000235.4(LIPA):c.656T>G (p.Leu219Ter) SNV Pathogenic 458507 rs1554865576 GRCh37: 10:90984868-90984868
GRCh38: 10:89225111-89225111
11 LIPA NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) SNV Pathogenic 554864 rs1457072724 GRCh37: 10:90987966-90987966
GRCh38: 10:89228209-89228209
12 LIPA NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) SNV Pathogenic 558291 rs779712562 GRCh37: 10:91005469-91005469
GRCh38: 10:89245712-89245712
13 LIPA NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) SNV Pathogenic 558291 rs779712562 GRCh37: 10:91005469-91005469
GRCh38: 10:89245712-89245712
14 LIPA NC_000010.11:g.(?_89228190)_(89228408_?)del Deletion Pathogenic 833070 GRCh37: 10:90987947-90988165
GRCh38:
15 LIPA NM_000235.4(LIPA):c.804del (p.Asn268fs) Deletion Pathogenic 842105 GRCh37: 10:90983459-90983459
GRCh38: 10:89223702-89223702
16 LIPA NC_000010.11:g.(?_89228180)_(89228418_?)del Deletion Pathogenic 830947 GRCh37: 10:90987937-90988175
GRCh38:
17 LIPA NM_000235.4(LIPA):c.676-2A>T SNV Pathogenic 939160 GRCh37: 10:90983589-90983589
GRCh38: 10:89223832-89223832
18 LIPA NM_000235.4(LIPA):c.406C>T (p.Gln136Ter) SNV Pathogenic 946870 GRCh37: 10:90987979-90987979
GRCh38: 10:89228222-89228222
19 LIPA NM_000235.4(LIPA):c.539-2A>G SNV Pathogenic 955545 GRCh37: 10:90984987-90984987
GRCh38: 10:89225230-89225230
20 LIPA NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter) SNV Pathogenic 82 rs121965087 GRCh37: 10:91005533-91005533
GRCh38: 10:89245776-89245776
21 LIPA NM_000235.4(LIPA):c.684del (p.Phe228fs) Deletion Pathogenic 553192 rs770074196 GRCh37: 10:90983579-90983579
GRCh38: 10:89223822-89223822
22 LIPA NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) Deletion Pathogenic 289986 rs756016704 GRCh37: 10:90987987-90987987
GRCh38: 10:89228230-89228230
23 LIPA NM_000235.4(LIPA):c.894G>A (p.Gln298=) SNV Pathogenic/Likely pathogenic 203361 rs116928232 GRCh37: 10:90982268-90982268
GRCh38: 10:89222511-89222511
24 LIPA NM_000235.4(LIPA):c.260G>T (p.Gly87Val) SNV Pathogenic/Likely pathogenic 88770 rs587778878 GRCh37: 10:90988125-90988125
GRCh38: 10:89228368-89228368
25 LIPA NM_000235.4(LIPA):c.482del (p.Asn161fs) Deletion Pathogenic/Likely pathogenic 552285 rs762559980 GRCh37: 10:90986708-90986708
GRCh38: 10:89226951-89226951
26 LIPA NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) SNV Pathogenic/Likely pathogenic 77 rs121965086 GRCh37: 10:90984925-90984925
GRCh38: 10:89225168-89225168
27 LIPA NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) SNV Pathogenic/Likely pathogenic 555337 rs776472526 GRCh37: 10:90974761-90974761
GRCh38: 10:89215004-89215004
28 LIPA NM_000235.4(LIPA):c.594dup (p.Ala199fs) Duplication Pathogenic/Likely pathogenic 80 rs780495201 GRCh37: 10:90984929-90984930
GRCh38: 10:89225172-89225173
29 LIPA NM_000235.4(LIPA):c.111+1G>A SNV Likely pathogenic 648013 rs762960877 GRCh37: 10:91007294-91007294
GRCh38: 10:89247537-89247537
30 LIPA NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys) SNV Likely pathogenic 695034 rs766062562 GRCh37: 10:90974622-90974622
GRCh38: 10:89214865-89214865
31 LIPA NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) SNV Likely pathogenic 695035 rs529668674 GRCh37: 10:90974627-90974627
GRCh38: 10:89214870-89214870
32 LIPA NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) SNV Likely pathogenic 695036 rs367664486 GRCh37: 10:90974665-90974665
GRCh38: 10:89214908-89214908
33 LIPA NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr) SNV Likely pathogenic 695037 rs747214463 GRCh37: 10:90974679-90974679
GRCh38: 10:89214922-89214922
34 LIPA NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn) SNV Likely pathogenic 695038 rs776294856 GRCh37: 10:90974706-90974706
GRCh38: 10:89214949-89214949
35 LIPA NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) SNV Likely pathogenic 695039 rs1446626293 GRCh37: 10:90974752-90974752
GRCh38: 10:89214995-89214995
36 LIPA NM_000235.4(LIPA):c.1025G>T (p.Gly342Val) SNV Likely pathogenic 695040 rs768826988 GRCh37: 10:90974760-90974760
GRCh38: 10:89215003-89215003
37 LIPA NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp) SNV Likely pathogenic 695041 rs776472526 GRCh37: 10:90974761-90974761
GRCh38: 10:89215004-89215004
38 LIPA NM_000235.4(LIPA):c.974C>T (p.Pro325Leu) SNV Likely pathogenic 695042 rs1326903845 GRCh37: 10:90974811-90974811
GRCh38: 10:89215054-89215054
39 LIPA NM_000235.4(LIPA):c.931G>A (p.Gly311Arg) SNV Likely pathogenic 695043 rs1589548972 GRCh37: 10:90975730-90975730
GRCh38: 10:89215973-89215973
40 LIPA NM_000235.4(LIPA):c.922T>G (p.Phe308Val) SNV Likely pathogenic 695044 rs751625944 GRCh37: 10:90975739-90975739
GRCh38: 10:89215982-89215982
41 LIPA NM_000235.4(LIPA):c.920C>A (p.Ala307Asp) SNV Likely pathogenic 695045 rs754964952 GRCh37: 10:90975741-90975741
GRCh38: 10:89215984-89215984
42 LIPA NM_000235.4(LIPA):c.881T>C (p.Leu294Ser) SNV Likely pathogenic 695046 rs756310979 GRCh37: 10:90982281-90982281
GRCh38: 10:89222524-89222524
43 LIPA NM_000235.4(LIPA):c.871C>G (p.Gln291Glu) SNV Likely pathogenic 695047 rs754124986 GRCh37: 10:90982291-90982291
GRCh38: 10:89222534-89222534
44 LIPA NM_000235.4(LIPA):c.866C>G (p.Ser289Cys) SNV Likely pathogenic 695048 rs1589553174 GRCh37: 10:90982296-90982296
GRCh38: 10:89222539-89222539
45 LIPA NM_000235.4(LIPA):c.863C>T (p.Thr288Ile) SNV Likely pathogenic 695049 rs1306336545 GRCh37: 10:90982299-90982299
GRCh38: 10:89222542-89222542
46 LIPA NM_000235.4(LIPA):c.605C>T (p.Pro202Leu) SNV Likely pathogenic 695050 rs1393039920 GRCh37: 10:90984919-90984919
GRCh38: 10:89225162-89225162
47 LIPA NM_000235.4(LIPA):c.526G>A (p.Gly176Ser) SNV Likely pathogenic 695051 rs1589556901 GRCh37: 10:90986664-90986664
GRCh38: 10:89226907-89226907
48 LIPA NM_000235.4(LIPA):c.455T>C (p.Leu152Pro) SNV Likely pathogenic 695052 rs748267444 GRCh37: 10:90986735-90986735
GRCh38: 10:89226978-89226978
49 LIPA NM_000235.4(LIPA):c.435T>A (p.Asp145Glu) SNV Likely pathogenic 695053 rs760901300 GRCh37: 10:90986755-90986755
GRCh38: 10:89226998-89226998
50 LIPA NM_000235.4(LIPA):c.417C>A (p.Phe139Leu) SNV Likely pathogenic 695054 rs1589558062 GRCh37: 10:90987968-90987968
GRCh38: 10:89228211-89228211

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

72
# 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

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:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 SOAT2 SMPD1 PNPLA5 PNPLA2 NPC2 NPC1
2
Show member pathways
11.9 SOAT2 NPC2 NPC1 LIPM LIPK LIPJ
3 11.76 SMPD1 NPC2 NPC1 M6PR LIPA
4
Show member pathways
11.63 SOAT2 NPC2 NPC1 LIPA ABCA1
5
Show member pathways
11.51 PNPLA2 LIPF LIPE ABHD5
6 11.36 PNPLA2 LIPE ABHD5
7
Show member pathways
11.3 PNPLA2 LIPF LIPE
8
Show member pathways
10.64 NPC2 NPC1 LIPA
9 10.5 PNPLA2 LIPE

GO Terms for Lysosomal Acid Lipase Deficiency

Cellular components related to Lysosomal Acid Lipase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.7 STAP1 LIPK LIPJ LIPF LIPA ABHD5
2 lysosomal lumen GO:0043202 9.43 SMPD1 NPC2 LIPA
3 lipid droplet GO:0005811 9.26 PNPLA5 PNPLA2 LIPE ABHD5
4 lysosome GO:0005764 9.17 TFEB SMPD1 NPC2 NPC1 M6PR LIPA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.76 SOAT2 NPC2 NPC1 ABCA1
2 lipid transport GO:0006869 9.73 NPC2 NPC1 ABCA1
3 steroid metabolic process GO:0008202 9.73 SOAT2 NPC2 NPC1 LIPE CH25H ABCA1
4 cholesterol metabolic process GO:0008203 9.7 SOAT2 SMPD1 NPC2 NPC1 LIPE CH25H
5 lipid homeostasis GO:0055088 9.69 PNPLA5 PNPLA2 ABHD5
6 cholesterol efflux GO:0033344 9.67 SOAT2 NPC2 NPC1 ABCA1
7 triglyceride catabolic process GO:0019433 9.65 PNPLA5 PNPLA2 LIPE
8 low-density lipoprotein particle clearance GO:0034383 9.62 SOAT2 NPC2 NPC1 LIPA
9 cholesterol transport GO:0030301 9.61 NPC2 NPC1 ABCA1
10 intracellular cholesterol transport GO:0032367 9.58 NPC2 NPC1 ABCA1
11 lipid catabolic process GO:0016042 9.56 PNPLA5 PNPLA2 LIPM LIPK LIPJ LIPF
12 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.55 NPC1 ABCA1
13 lysosomal transport GO:0007041 9.54 NPC1 M6PR
14 positive regulation of triglyceride catabolic process GO:0010898 9.52 PNPLA2 ABHD5
15 negative regulation of sequestering of triglyceride GO:0010891 9.49 PNPLA2 ABHD5
16 lipid metabolic process GO:0006629 9.47 SOAT2 PNPLA5 PNPLA2 NPC2 NPC1 LIPM

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.9 SMPD1 PNPLA5 PNPLA2 LIPM LIPK LIPJ
2 cholesterol binding GO:0015485 9.56 SOAT2 NPC2 NPC1 ABCA1
3 intermembrane cholesterol transfer activity GO:0120020 9.43 NPC2 ABCA1
4 lipase activity GO:0016298 9.4 LIPE LIPA
5 sterol esterase activity GO:0004771 9.37 LIPE LIPA
6 hydrolase activity, acting on ester bonds GO:0016788 9.35 LIPM LIPK LIPJ LIPF LIPA
7 retinyl-palmitate esterase activity GO:0050253 9.32 PNPLA2 LIPE
8 triglyceride lipase activity GO:0004806 9.02 PNPLA5 PNPLA2 LIPF LIPE ABHD5

Sources for Lysosomal Acid Lipase Deficiency

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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