CESD
MCID: LYS012
MIFTS: 69

Lysosomal Acid Lipase Deficiency (CESD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Lysosomal Acid Lipase Deficiency

MalaCards integrated aliases for Lysosomal Acid Lipase Deficiency:

Name: Lysosomal Acid Lipase Deficiency 57 24 19 42 58 73 28 5 75
Wolman Disease 57 11 19 58 75 73 28 53 5 43 14 38 71
Cholesteryl Ester Storage Disease 57 19 58 73 28 12 53 5
Lal Deficiency 57 24 19 42 58 73
Cholesterol Ester Storage Disease 19 58 73 71
Lipa Deficiency 57 19 42 73
Cholesterol Ester Hydrolase Deficiency 57 19 73
Acid Lipase Deficiency 11 24 42
Cesd 57 19 73
Acid Esterase Deficiency 11 42
Familial Xanthomatosis 19 42
Primary Familial Xanthomatosis with Adrenal Calcification 42
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 71
Wolman's or Triglyceride Storage Type Iii Disease 11
Liposomal Acid Lipase Deficiency, Wolman Type 19
Familial Visceral Xanthomatosis 42
Primary Familial Xanthomatosis 42
Xanthomatosis, Familial 11
Wolman Xanthomatosis 11
Acid Lipase Disease 52
Wolman's Disease 11
Wod 73

Characteristics:


Inheritance:

Lysosomal Acid Lipase Deficiency: Autosomal recessive 58 57
Cholesteryl Ester Storage Disease: Autosomal recessive 58
Wolman Disease: Autosomal recessive 58

Prevelance:

Lysosomal Acid Lipase Deficiency: 1-9/1000000 (Czech Republic) 1-9/100000 (Europe) 58
Cholesteryl Ester Storage Disease: 1-9/100000 (Germany) 1-9/1000000 (Specific population) 58
Wolman Disease: 1-9/1000000 (Australia) 58

Age Of Onset:

Lysosomal Acid Lipase Deficiency: Adolescent,Adult,Childhood,Infancy,Neonatal 58
Cholesteryl Ester Storage Disease: Adolescent,Adult,Childhood 58
Wolman Disease: Infancy,Neonatal 58

Classifications:

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


Summaries for Lysosomal Acid Lipase Deficiency

MedlinePlus Genetics: 42 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 hypercholesterolemia, familial, 1, 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 Transport of inorganic cations/anions and amino acids/oligopeptides and Plasma lipoprotein assembly, remodeling, and clearance. The drugs Prednisolone phosphate and Prednisolone acetate 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

NINDS: 52 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.

Orphanet 58 Lysosomal acid lipase deficiency: A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.

Wolman disease: A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.

Cholesteryl ester storage disease: A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.

GARD: 19 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 genetic changes in the LIPA gene. It is inherited in an autosomal recessive manner.

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. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a 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 08-Dec-2022)

UniProtKB/Swiss-Prot 73 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: 75 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 183)
# Related Disease Score Top Affiliating Genes
1 cholesterol ester storage disease 31.1 PNPLA5 NPC2 LIPF LIPA LCAT CHIT1
2 hypercholesterolemia, familial, 1 30.6 SOAT2 LCAT APOB ABCG5
3 pick disease of brain 30.6 SMPD1 NPC2 NPC1
4 hypolipoproteinemia 30.4 LCAT APOB ABCG5 ABCA1
5 lipid metabolism disorder 30.4 SOAT2 PNPLA2 LIPA LCAT APOB ABCG5
6 hypoalphalipoproteinemia 30.2 LCAT APOB ABCA1
7 hypoalphalipoproteinemia, primary, 2 30.2 LCAT APOB ABCA1
8 atherosclerosis susceptibility 30.1 LCAT APOB ABCG5 ABCA1
9 sea-blue histiocyte disease 30.0 SMPD1 PNPLA5 LIPA LCAT
10 gaucher disease, type i 30.0 SMPD1 NPC2 NPC1 IDUA CHIT1
11 hypoalphalipoproteinemia, primary, 1 30.0 LCAT APOB ABCG5 ABCA1
12 familial hypercholesterolemia 29.9 PNPLA5 LIPA LCAT APOB ABCG5 ABCA1
13 niemann-pick disease, type c1 29.9 SMPD1 NPC2 NPC1 LIPA ABCG5 ABCA1
14 lysosomal storage disease 29.9 SMPD1 PNPLA2 NPC2 NPC1 M6PR LIPA
15 mucolipidosis ii alpha/beta 29.8 SMPD1 M6PR IGF2R IDUA
16 chanarin-dorfman syndrome 29.6 PNPLA5 PNPLA2 ABHD5
17 gm1 gangliosidosis 29.6 SMPD1 NPC2 NPC1 IGF2R IDUA CHIT1
18 lipid storage disease 29.6 SMPD1 PNPLA2 NPC2 NPC1 LIPA CHIT1
19 gaucher's disease 29.5 SMPD1 NPC2 NPC1 M6PR LIPA IGF2R
20 niemann-pick disease 29.2 SMPD1 NPC2 NPC1 M6PR LIPA LCAT
21 non-alcoholic fatty liver disease 10.8
22 liver disease 10.7
23 fatty liver disease 10.6
24 splenomegaly 10.5
25 lysosomal disease 10.5
26 abdominal obesity-metabolic syndrome 1 10.4
27 fatty liver disease 1 10.4
28 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC2 NPC1
29 premature ovarian failure 7 10.3
30 liver cirrhosis 10.3
31 cryptogenic cirrhosis 10.3
32 niemann-pick disease type c, adult neurologic onset 10.3 NPC2 NPC1
33 hypertriglyceridemia 1 10.3
34 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC2 NPC1
35 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC2 NPC1
36 niemann-pick disease type c, severe perinatal form 10.3 NPC2 NPC1
37 varicose veins 10.2
38 hemophagocytic lymphohistiocytosis, familial, 1 10.2
39 hemophagocytic lymphohistiocytosis 10.2
40 non-alcoholic steatohepatitis 10.2
41 esophageal varix 10.2
42 vascular disease 10.2
43 nutritional deficiency disease 10.2
44 fusariosis 10.2 LIPM LIPJ
45 gaucher disease, perinatal lethal 10.2 NPC1 LIPA CHIT1
46 narcolepsy 1 10.2 NPC2 NPC1
47 major depressive disorder 10.2
48 farber lipogranulomatosis 10.2 SMPD1 NPC2 NPC1
49 smith-lemli-opitz syndrome 10.2 NPC1 LIPA ABCA1
50 niemann-pick disease, type c2 10.1 SMPD1 NPC2 NPC1 LIPA

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 30 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0002017
2 global developmental delay 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0001263
3 hepatomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002240
4 hypertriglyceridemia 58 30 Very rare (1%) Frequent (79-30%)
Very frequent (99-80%)
HP:0002155
5 elevated hepatic transaminase 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002910
6 hepatic fibrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001395
7 steatorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002570
8 jaundice 58 30 Hallmark (90%) Occasional (29-5%)
Very frequent (99-80%)
HP:0000952
9 abdominal pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002027
10 hypercholesterolemia 58 30 Very rare (1%) Frequent (79-30%)
Very frequent (99-80%)
HP:0003124
11 hepatic failure 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0001399
12 hepatosplenomegaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001433
13 abdominal distention 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0003270
14 adrenal calcification 58 30 Very rare (1%) Occasional (29-5%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0010512
15 microvesicular hepatic steatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001414
16 vacuolated lymphocytes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001922
17 fatal liver failure in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006583
18 elevated circulating alkaline phosphatase concentration 30 Hallmark (90%) HP:0003155
19 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001744
20 anemia 58 30 Very rare (1%) Frequent (79-30%)
Occasional (29-5%)
HP:0001903
21 ascites 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0001541
22 growth delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001510
23 cachexia 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0004326
24 stroke 58 30 Frequent (33%) Frequent (79-30%)
HP:0001297
25 esophageal varix 58 30 Very rare (1%) Occasional (29-5%)
Occasional (29-5%)
Frequent (79-30%)
HP:0002040
26 diarrhea 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0002014
27 xanthelasma 58 30 Frequent (33%) Frequent (79-30%)
HP:0001114
28 arteriosclerosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002634
29 malnutrition 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0004395
30 precocious atherosclerosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004416
31 coronary artery atherosclerosis 30 Frequent (33%) HP:0001677
32 failure to thrive 58 30 Very rare (1%) Occasional (29-5%)
HP:0001508
33 hypotension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002615
34 dehydration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001944
35 vomiting 58 30 Very rare (1%) Occasional (29-5%)
HP:0002013
36 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
37 cirrhosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0001394
38 hypersplenism 58 30 Very rare (1%) Occasional (29-5%)
HP:0001971
39 hyponatremia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002902
40 hyperkalemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002153
41 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
42 primary adrenal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008207
43 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000989
44 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
45 bone-marrow foam cells 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0004333
46 adrenal insufficiency 58 30 Very rare (1%) Occasional (29-5%)
HP:0000846
47 hypovolemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011106
48 renal salt wasting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000127
49 acidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001941
50 hypernatriuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012605

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Lysosomal Acid Lipase Deficiency:


vomiting; diarrhea

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased free cholesterol GR00340-A-2 8.62 APOB NPC1

MGI Mouse Phenotypes related to Lysosomal Acid Lipase Deficiency:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ABCA1 ABCG5 ABHD5 APOB IDUA IGF2R
2 liver/biliary system MP:0005370 10.31 ABCA1 ABCG5 ABHD5 APOB IDUA IGF2R
3 growth/size/body region MP:0005378 10.27 ABCA1 ABCG5 ABHD5 APOB IDUA IGF2R
4 cellular MP:0005384 10.18 ABCA1 ABCG5 ABHD5 APOB IDUA IGF2R
5 cardiovascular system MP:0005385 10.18 ABCA1 ABCG5 ABHD5 APOB IDUA IGF2R
6 immune system MP:0005387 10.13 ABCA1 ABCG5 ABHD5 APOB CH25H CHIT1
7 endocrine/exocrine gland MP:0005379 10.09 ABCA1 ABHD5 CH25H IGF2R LCAT LIPA
8 reproductive system MP:0005389 9.85 ABCA1 ABCG5 ABHD5 APOB CH25H IDUA
9 respiratory system MP:0005388 9.8 ABCA1 IGF2R LIPA NPC1 NPC2 PNPLA2
10 hematopoietic system MP:0005397 9.77 ABCA1 ABCG5 ABHD5 CH25H IDUA IGF2R
11 mortality/aging MP:0010768 9.44 ABCA1 ABCG5 ABHD5 APOB IDUA IGF2R

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 acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
6
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
7 Antilymphocyte Serum Phase 2, Phase 3
8
Methylprednisolone Acetate Phase 2, Phase 3 584547
9
Melphalan Approved Phase 2 148-82-3 4053 460612
10
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
11
Hydroxyurea Approved Phase 2 127-07-1 3657
12
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
15
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
16
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Busulfan Approved, Investigational Phase 2 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19 Anti-Infective Agents Phase 2
20 Calcineurin Inhibitors Phase 2
21 Cyclosporins Phase 2
22 Antifungal Agents Phase 2
23 Antimetabolites Phase 2
24 Dermatologic Agents Phase 2
25 Antirheumatic Agents Phase 2
26 Alkylating Agents Phase 2
27 Antineoplastic Agents, Alkylating Phase 2
28 Antineoplastic Agents, Immunological Phase 2
29 Immunosuppressive Agents Phase 2
30 Immunologic Factors Phase 2
31 Liver Extracts Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 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)
3 A Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency Completed NCT01757184 Phase 3 Sebelipase Alfa;Placebo
4 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
5 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
6 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
7 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
8 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
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 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 Completed NCT01586455 Phase 1 Human Placental Derived Stem Cell
11 In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). Recruiting NCT04532047 Phase 1 Aldurazyme (laronidase)
12 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
13 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Unknown status NCT02851550
14 Identification of Undiagnosed Lysosomal Acid Lipase Deficiency Unknown status NCT01716728
15 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Unknown status NCT02852304
16 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
17 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
18 A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype Completed NCT01358370
19 The Frequency of Cholesteryl Ester Storage Disease in Children With Unexplained Transaminase Elevation and Chronic Liver Disease Completed NCT02372513
20 An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype Completed NCT01528917
21 Breakfast for Young Women Recruiting NCT04652713
22 Registry of Patients Diagnosed With Lysosomal Storage Diseases Recruiting NCT05619900
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 Nonalcoholic Fatty Liver Disease: Crosstalk Between Genetic Predisposition and Epigenetic Lysosomal Acid Lipase Activity Reduction in Blood, Plasma and Platelets Recruiting NCT05419765
27 Biomarker for Wolman Disease, AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02383641
28 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Enrolling by invitation NCT05368038
29 Prevalence and Risk Factors of Women Mental Health Disorders in Assiut Governorate Not yet recruiting NCT04792671
30 AN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY No longer available NCT02376751 sebelipase alfa
31 A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations Terminated NCT02345421
32 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 28 LIPA
2 Wolman Disease 28
3 Cholesteryl Ester Storage Disease 28

Anatomical Context for Lysosomal Acid Lipase Deficiency

Organs/tissues related to Lysosomal Acid Lipase Deficiency:

MalaCards : Liver, Spleen, Bone Marrow, Heart, Kidney, Skin, Bone
ODiseA: Blood And Bone Marrow

Publications for Lysosomal Acid Lipase Deficiency

Articles related to Lysosomal Acid Lipase Deficiency:

(show top 50) (show all 1204)
# Title Authors PMID Year
1
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. 53 62 24 57 5
8254026 1993
2
Intragenic deletion as a novel type of mutation in Wolman disease. 62 24 57 5
21963785 2011
3
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 53 62 57 5
8617513 1996
4
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 53 62 57 5
8146180 1994
5
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency. 62 57 5
31230978 2019
6
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease. 53 62 24 5
18775687 2008
7
Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. 53 62 24 5
16255772 2005
8
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 53 62 24 5
11441129 2001
9
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. 53 62 24 5
10627498 2000
10
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 53 62 24 5
10562460 1999
11
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 53 62 24 5
8894696 1996
12
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. 53 62 24 5
7773732 1995
13
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). 53 62 24 5
7759067 1995
14
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. 62 24 57
26352813 2015
15
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. 62 24 5
24993530 2014
16
Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 62 24 5
24792990 2014
17
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 62 24 5
23424026 2013
18
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. 62 24 5
23485521 2013
19
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 62 24 5
23583223 2013
20
Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 62 24 5
23430518 2013
21
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 62 24 5
22227072 2012
22
Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. 53 62 5
9925650 1999
23
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 53 62 5
9684740 1998
24
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. 53 62 5
9554751 1998
25
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. 53 62 5
9633819 1998
26
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase. 53 62 5
9367797 1997
27
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. 53 62 5
8864960 1996
28
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 53 62 5
7499245 1995
29
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. 53 62 5
8598644 1995
30
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. 53 62 5
7833918 1994
31
Progressive macrophage accumulation in lysosomal acid lipase deficiency. 62 5
32382506 2020
32
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 62 5
31180157 2019
33
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. 62 5
31412917 2019
34
Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency. 62 5
31182375 2019
35
A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia. 62 5
31392116 2019
36
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. 62 5
30684275 2019
37
Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation. 62 5
31113597 2019
38
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients. 62 5
29958253 2018
39
Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene. 62 5
29196158 2018
40
Prenatal sonographic findings in a case of Wolman's disease. 62 5
28374935 2018
41
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. 62 5
28881270 2017
42
Lysosomal acid lipase deficiency in all siblings of the same parents. 62 5
28502515 2017
43
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. 62 5
28220406 2017
44
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. 62 57
28401034 2017
45
Lysosomal acid lipase deficiency: Expanding differential diagnosis. 62 57
27876313 2017
46
Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease. 62 5
27624512 2016
47
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. 62 57
26312827 2016
48
Clinical Features of Lysosomal Acid Lipase Deficiency. 62 5
26252914 2015
49
Identification and metabolic profiling of patients with lysosomal acid lipase deficiency. 62 5
26350820 2015
50
Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype. 62 5
25620107 2015

Variations for Lysosomal Acid Lipase Deficiency

ClinVar genetic disease variations for Lysosomal Acid Lipase Deficiency:

5 (show top 50) (show all 361)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPA NM_000235.4(LIPA):c.894+1G>A SNV Pathogenic
81 rs1564751995 GRCh37: 10:90982267-90982267
GRCh38: 10:89222510-89222510
2 LIPA NC_000010.10:g.(?_90974575)_(91007415_?)del DEL Pathogenic
1400780 GRCh37: 10:90974575-91007415
GRCh38:
3 LIPA NM_000235.4(LIPA):c.771_774del (p.Leu256_Cys257insTer) DEL Pathogenic
1383305 GRCh37: 10:90983489-90983492
GRCh38: 10:89223732-89223735
4 LIPA NM_000235.4(LIPA):c.676-2A>T SNV Pathogenic
939160 rs747508159 GRCh37: 10:90983589-90983589
GRCh38: 10:89223832-89223832
5 LIPA NM_000235.4(LIPA):c.406C>T (p.Gln136Ter) SNV Pathogenic
946870 rs1842794747 GRCh37: 10:90987979-90987979
GRCh38: 10:89228222-89228222
6 LIPA NM_000235.4(LIPA):c.37del (p.Val13fs) DEL Pathogenic
1069094 GRCh37: 10:91007369-91007369
GRCh38: 10:89247612-89247612
7 LIPA NC_000010.10:g.(?_91005423)_(91007415_?)del DEL Pathogenic
1076884 GRCh37: 10:91005423-91007415
GRCh38:
8 LIPA NM_000235.4(LIPA):c.804del (p.Asn268fs) DEL Pathogenic
842105 rs1410809018 GRCh37: 10:90983459-90983459
GRCh38: 10:89223702-89223702
9 LIPA NM_000235.4(LIPA):c.539-2A>G SNV Pathogenic
955545 rs762143630 GRCh37: 10:90984987-90984987
GRCh38: 10:89225230-89225230
10 LIPA NM_000235.4(LIPA):c.980del (p.Thr327fs) DEL Pathogenic
1070184 GRCh37: 10:90974805-90974805
GRCh38: 10:89215048-89215048
11 LIPA NM_000235.4(LIPA):c.313_314insT (p.Gly105fs) INSERT Pathogenic
1072017 GRCh37: 10:90988071-90988072
GRCh38: 10:89228314-89228315
12 LIPA NM_000235.4(LIPA):c.594dup (p.Ala199fs) DUP Pathogenic
Pathogenic
Likely Pathogenic
80 rs780495201 GRCh37: 10:90984929-90984930
GRCh38: 10:89225172-89225173
13 LIPA NM_000235.4(LIPA):c.929G>A (p.Trp310Ter) SNV Pathogenic
1455198 GRCh37: 10:90975732-90975732
GRCh38: 10:89215975-89215975
14 LIPA NM_000235.4(LIPA):c.652C>T (p.Arg218Ter) SNV Pathogenic
1459866 GRCh37: 10:90984872-90984872
GRCh38: 10:89225115-89225115
15 LIPA NC_000010.10:g.(?_90982258)_(90988165_?)del DEL Pathogenic
1458797 GRCh37: 10:90982258-90988165
GRCh38:
16 LIPA NM_000235.4(LIPA):c.600_603dup (p.Pro202fs) DUP Pathogenic
1459690 GRCh37: 10:90984920-90984921
GRCh38: 10:89225163-89225164
17 LIPA NM_000235.4(LIPA):c.482del (p.Asn161fs) DEL Pathogenic
Likely Pathogenic
552285 rs762559980 GRCh37: 10:90986708-90986708
GRCh38: 10:89226951-89226951
18 LIPA NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) SNV Pathogenic
208594 rs797045094 GRCh37: 10:90988132-90988132
GRCh38: 10:89228375-89228375
19 LIPA NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) SNV Pathogenic
Pathogenic
558291 rs779712562 GRCh37: 10:91005469-91005469
GRCh38: 10:89245712-89245712
20 LIPA NM_000235.4(LIPA):c.684del (p.Phe228fs) DEL Pathogenic
Pathogenic
553192 rs770074196 GRCh37: 10:90983579-90983579
GRCh38: 10:89223822-89223822
21 LIPA NC_000010.11:g.(?_89228180)_(89228418_?)del DEL Pathogenic
830947 GRCh37: 10:90987937-90988175
GRCh38:
22 LIPA NC_000010.11:g.(?_89228190)_(89228408_?)del DEL Pathogenic
Pathogenic
833070 GRCh37: 10:90987947-90988165
GRCh38:
23 LIPA NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) SNV Pathogenic
Likely Pathogenic
555337 rs776472526 GRCh37: 10:90974761-90974761
GRCh38: 10:89215004-89215004
24 LIPA NM_000235.4(LIPA):c.455T>C (p.Leu152Pro) SNV Pathogenic
Likely Pathogenic
695052 rs748267444 GRCh37: 10:90986735-90986735
GRCh38: 10:89226978-89226978
25 LIPA NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs) DEL Pathogenic
1323236 GRCh37: 10:90974601-90974605
GRCh38: 10:89214844-89214848
26 LIPA NM_000235.4(LIPA):c.412G>T (p.Glu138Ter) SNV Pathogenic
1323237 GRCh37: 10:90987973-90987973
GRCh38: 10:89228216-89228216
27 LIPA NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
554874 rs766364179 GRCh37: 10:90988076-90988076
GRCh38: 10:89228319-89228319
28 LIPA NM_000235.4(LIPA):c.386A>G (p.His129Arg) SNV Pathogenic
Likely Pathogenic
695055 rs1423914418 GRCh37: 10:90987999-90987999
GRCh38: 10:89228242-89228242
29 LIPA NM_000235.4(LIPA):c.254A>G (p.Gln85Arg) SNV Pathogenic
Likely Pathogenic
695062 rs1589558414 GRCh37: 10:90988131-90988131
GRCh38: 10:89228374-89228374
30 LIPA NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) INSERT Pathogenic
Likely Pathogenic
556450 rs753796180 GRCh37: 10:90988034-90988035
GRCh38: 10:89228277-89228278
31 LIPA NM_000235.4(LIPA):c.894G>C (p.Gln298His) SNV Pathogenic
Likely Pathogenic
430634 rs116928232 GRCh37: 10:90982268-90982268
GRCh38: 10:89222511-89222511
32 LIPA NM_000235.4(LIPA):c.647T>A (p.Leu216Ter) SNV Pathogenic
1685926 GRCh37: 10:90984877-90984877
GRCh38: 10:89225120-89225120
33 LIPA NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) SNV Pathogenic
Pathogenic
Pathogenic
78 rs267607218 GRCh37: 10:90983467-90983467
GRCh38: 10:89223710-89223710
34 LIPA NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter) SNV Pathogenic
82 rs121965087 GRCh37: 10:91005533-91005533
GRCh38: 10:89245776-89245776
35 LIPA NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) SNV Pathogenic
Likely Pathogenic
77 rs121965086 GRCh37: 10:90984925-90984925
GRCh38: 10:89225168-89225168
36 LIPA NM_000235.4(LIPA):c.600G>A (p.Leu200=) SNV Pathogenic
Likely Pathogenic
Uncertain Significance
867231 rs1172318248 GRCh37: 10:90984924-90984924
GRCh38: 10:89225167-89225167
37 LIPA NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter) SNV Pathogenic
1070183 GRCh37: 10:90974718-90974718
GRCh38: 10:89214961-89214961
38 LIPA NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) SNV Pathogenic
Likely Pathogenic
695039 rs1446626293 GRCh37: 10:90974752-90974752
GRCh38: 10:89214995-89214995
39 LIPA NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) SNV Pathogenic
Pathogenic
554864 rs1457072724 GRCh37: 10:90987966-90987966
GRCh38: 10:89228209-89228209
40 LIPA NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter) SNV Pathogenic
1404815 GRCh37: 10:90975710-90975710
GRCh38: 10:89215953-89215953
41 LIPA NC_000010.10:g.(?_90974565)_(91007425_?)del DEL Pathogenic
1457231 GRCh37: 10:90974565-91007425
GRCh38:
42 LIPA NM_000235.4(LIPA):c.854del (p.Pro285fs) DEL Pathogenic
1417455 GRCh37: 10:90982308-90982308
GRCh38: 10:89222551-89222551
43 LIPA NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) DEL Pathogenic
Pathogenic
289986 rs756016704 GRCh37: 10:90987987-90987987
GRCh38: 10:89228230-89228230
44 LIPA NC_000010.10:g.(90986762_90987956)_(90988156_91005432)del DEL Pathogenic
1723279 GRCh37: 10:90986762-91005432
GRCh38:
45 LIPA NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg) SNV Pathogenic
1350454 GRCh37: 10:90974761-90974761
GRCh38: 10:89215004-89215004
46 LIPA NM_000235.4(LIPA):c.260G>T (p.Gly87Val) SNV Pathogenic
Likely Pathogenic
88770 rs587778878 GRCh37: 10:90988125-90988125
GRCh38: 10:89228368-89228368
47 LIPA NM_000235.4(LIPA):c.894G>A (p.Gln298=) SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
203361 rs116928232 GRCh37: 10:90982268-90982268
GRCh38: 10:89222511-89222511
48 LIPA NM_000235.4(LIPA):c.656T>G (p.Leu219Ter) SNV Pathogenic
458507 rs1554865576 GRCh37: 10:90984868-90984868
GRCh38: 10:89225111-89225111
49 LIPA NM_000235.4(LIPA):c.253C>A (p.Gln85Lys) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
695063 rs797045094 GRCh37: 10:90988132-90988132
GRCh38: 10:89228375-89228375
50 LIPA NM_000235.4(LIPA):c.294C>G (p.Asn98Lys) SNV Likely Pathogenic
Likely Pathogenic
501531 rs767688436 GRCh37: 10:90988091-90988091
GRCh38: 10:89228334-89228334

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

73
# Symbol AA change Variation ID SNP ID
1 LIPA p.His129Pro VAR_004248 rs1423914418
2 LIPA p.His129Arg VAR_004249 rs1423914418
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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 SOAT2 NPC2 NPC1 LIPA LCAT APOB
2
Show member pathways
11.64 SOAT2 NPC2 NPC1 LIPA LCAT APOB
3
Show member pathways
11.44 LCAT APOB ABCG5 ABCA1
4
Show member pathways
11.26 PNPLA2 LIPF ABHD5
5 10.63 PNPLA2 ABHD5
6 10.48 NPC2 NPC1 LIPA
7
Show member pathways
10.28 NPC2 NPC1 LIPA

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 lysosome GO:0005764 9.93 SMPD1 NPC2 NPC1 M6PR LIPA IDUA
2 clathrin-coated endocytic vesicle membrane GO:0030669 9.73 M6PR IGF2R APOB
3 lipid droplet GO:0005811 9.65 SMPD1 PNPLA5 PNPLA2 APOB ABHD5
4 lysosomal lumen GO:0043202 9.32 SMPD1 NPC2 LIPA IDUA APOB

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 10.17 ABCA1 ABCG5 APOB LCAT NPC1 NPC2
2 lipid catabolic process GO:0016042 10.11 PNPLA5 PNPLA2 LIPM LIPJ LIPF LIPA
3 intermembrane lipid transfer GO:0120009 10.1 NPC2 APOB ABCG5 ABCA1
4 lipid homeostasis GO:0055088 10.08 PNPLA5 PNPLA2 ABHD5
5 sterol transport GO:0015918 10.04 NPC2 NPC1 ABCG5
6 lysosomal transport GO:0007041 10.03 NPC1 M6PR IGF2R
7 triglyceride catabolic process GO:0019433 10.02 APOB PNPLA2 PNPLA5
8 cholesterol transport GO:0030301 10.01 NPC2 NPC1 LCAT APOB
9 low-density lipoprotein particle clearance GO:0034383 10 SOAT2 LIPA APOB
10 intracellular cholesterol transport GO:0032367 9.99 NPC2 NPC1 ABCA1
11 lipid transport GO:0006869 9.95 NPC2 NPC1 APOB ABCG5 ABCA1
12 intestinal cholesterol absorption GO:0030299 9.93 SOAT2 NPC1 ABCG5
13 cholesterol efflux GO:0033344 9.93 ABCA1 ABCG5 APOB NPC1 NPC2 SOAT2
14 very-low-density lipoprotein particle assembly GO:0034379 9.92 SOAT2 APOB
15 response to type I interferon GO:0034340 9.91 SMPD1 CH25H
16 positive regulation of triglyceride catabolic process GO:0010898 9.91 PNPLA2 ABHD5
17 negative regulation of sequestering of triglyceride GO:0010891 9.89 PNPLA2 ABHD5
18 regulation of high-density lipoprotein particle assembly GO:0090107 9.88 ABCA1 LCAT
19 cholesterol metabolic process GO:0008203 9.86 SOAT2 SMPD1 NPC2 NPC1 LCAT CH25H
20 lipoprotein biosynthetic process GO:0042158 9.83 ABCA1 APOB LCAT
21 steroid metabolic process GO:0008202 9.8 SOAT2 NPC2 NPC1 LCAT CH25H APOB
22 lipoprotein metabolic process GO:0042157 9.75 LCAT APOB ABCA1
23 lipid metabolic process GO:0006629 9.55 SOAT2 SMPD1 PNPLA5 PNPLA2 NPC2 NPC1
24 obsolete cholesterol esterification GO:0034435 9.54 SOAT2 LCAT

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 9.92 SOAT2 NPC2 NPC1 ABCA1
2 lipoprotein lipase activity GO:0004465 9.8 PNPLA2 LIPM
3 retromer complex binding GO:1905394 9.78 M6PR IGF2R
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.76 SMPD1 IDUA CHIT1
5 cholesterol transfer activity GO:0120020 9.76 ABCA1 ABCG5 APOB NPC2
6 apolipoprotein A-I binding GO:0034186 9.71 LCAT ABCA1
7 lipid transporter activity GO:0005319 9.67 NPC1 APOB ABCA1
8 hydrolase activity, acting on ester bonds GO:0016788 9.65 LIPA LIPF LIPJ LIPM
9 sterol esterase activity GO:0004771 9.61 LIPA LCAT
10 triglyceride lipase activity GO:0004806 9.5 PNPLA5 PNPLA2 LIPF ABHD5
11 hydrolase activity GO:0016787 9.36 SMPD1 PNPLA5 PNPLA2 LIPM LIPJ LIPF

Sources for Lysosomal Acid Lipase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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