Lysosomal and Lipase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lysosomal and Lipase Deficiency

MalaCards integrated aliases for Lysosomal and Lipase Deficiency:

Name: Lysosomal and Lipase Deficiency ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080217

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Summaries for Lysosomal and Lipase Deficiency

Disease Ontology : ¹² A lipid storage disease characterized by lysosomal and lipase deficiency.

MalaCards based summary : Lysosomal and Lipase Deficiency is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset. An important gene associated with Lysosomal and Lipase Deficiency is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Metabolism and Lipoprotein metabolism. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are cardiovascular system and liver/biliary system

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Related Diseases for Lysosomal and Lipase Deficiency

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

(show all 45)

#	Related Disease	Score	Top Affiliating Genes
1	niemann-pick disease type c, juvenile neurologic onset	10.3	NPC2 NPC1
2	niemann-pick disease type c, adult neurologic onset	10.3	NPC2 NPC1
3	niemann-pick disease type c, severe early infantile neurologic onset	10.3	NPC2 NPC1
4	niemann-pick disease type c, late infantile neurologic onset	10.3	NPC2 NPC1
5	niemann-pick disease type c, severe perinatal form	10.3	NPC2 NPC1
6	acid sphingomyelinase deficiency	10.3	SMPD1 NPC1
7	fusariosis	10.2	LIPM LIPJ
8	niemann-pick disease, type c2	10.2	SMPD1 NPC2 NPC1
9	optic atrophy 6	10.2	LIPM LIPK
10	sandhoff disease	10.2	SMPD1 NPC2 NPC1
11	gm2 gangliosidosis	10.1	SMPD1 NPC2 NPC1
12	mucopolysaccharidosis iv	10.1	SMPD1 M6PR LIPA
13	mucolipidosis iv	10.1	TFEB NPC2 NPC1
14	niemann-pick disease, type c1	10.1	SMPD1 NPC2 NPC1 LIPA
15	gm1-gangliosidosis, type i	10.1	SMPD1 NPC2 NPC1 CHIT1
16	mucolipidosis ii alpha/beta	10.1	SMPD1 NPC1 M6PR
17	farber lipogranulomatosis	10.1	SMPD1 NPC1
18	cerebral lipidosis	10.1	SMPD1 NPC1 M6PR CHIT1
19	pick disease of brain	10.0	SMPD1 NPC2 NPC1
20	inherited metabolic disorder	10.0	NPC2 NPC1 LIPA
21	metachromatic leukodystrophy	10.0	SMPD1 NPC2 NPC1 M6PR
22	sea-blue histiocyte disease	10.0	STAP1 PNPLA5 LIPA
23	mucopolysaccharidosis, type iiia	10.0	TFEB NPC1 M6PR LIPA
24	niemann-pick disease, type b	10.0	SMPD1 NPC2 NPC1 LIPA CHIT1
25	niemann-pick disease, type a	10.0	SMPD1 NPC2 NPC1 LIPA CHIT1
26	gaucher disease, type i	10.0	SMPD1 NPC2 NPC1 CHIT1
27	gm1 gangliosidosis	9.9	SMPD1 NPC2 NPC1 M6PR CHIT1
28	krabbe disease	9.9	SMPD1 NPC2 NPC1 M6PR CHIT1
29	ceroid lipofuscinosis, neuronal, 3	9.9	TFEB SMPD1 NPC2 NPC1 M6PR
30	mucolipidosis	9.9	TFEB SMPD1 NPC2 NPC1 M6PR
31	neuronal ceroid lipofuscinosis	9.9	TFEB SMPD1 NPC2 NPC1 M6PR
32	mucopolysaccharidosis, type iiib	9.9	TFEB M6PR
33	lipodystrophy, familial partial, type 4	9.9	PNPLA2 LIPE ABHD5
34	lysosomal storage disease	9.8	SMPD1 NPC2 NPC1 M6PR LIPA CHIT1
35	c syndrome	9.8	TFEB SMPD1 NPC2 NPC1 M6PR LIPA
36	mucopolysaccharidosis iii	9.8	TFEB SMPD1 NPC2 NPC1 M6PR LIPA
37	tay-sachs disease	9.8	TFEB SMPD1 NPC2 NPC1 M6PR CHIT1
38	sphingolipidosis	9.7	TFEB SMPD1 NPC2 NPC1 M6PR LIPA
39	mucopolysaccharidosis-plus syndrome	9.7	TFEB SMPD1 NPC2 NPC1 M6PR LIPA
40	niemann-pick disease	9.7	TFEB SMPD1 NPC2 NPC1 M6PR LIPA
41	gaucher's disease	9.7	TFEB SMPD1 NPC2 NPC1 M6PR LIPA
42	cholesterol ester storage disease	9.5	TFEB STAP1 PNPLA5 LIPF LIPE LIPA
43	lipid storage disease	9.5	SMPD1 PNPLA2 NPC2 NPC1 LIPA CHIT1
44	chanarin-dorfman syndrome	9.3	PNPLA5 PNPLA2 MGLL LIPE ABHD5
45	lysosomal acid lipase deficiency	7.3	VSTM4 TFEB STAP1 SOAT2 SMPD1 PNPLA5

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

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Symptoms & Phenotypes for Lysosomal and Lipase Deficiency

MGI Mouse Phenotypes related to Lysosomal and Lipase Deficiency:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.65	ABHD5 LIPA LIPE M6PR NPC1 NPC2
2	liver/biliary system	MP:0005370	9.28	ABHD5 LIPA LIPE MGLL NPC1 NPC2

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Drugs & Therapeutics for Lysosomal and Lipase Deficiency

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

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Liver Extracts		Phase 2, Phase 3

Interventional clinical trials:

(show all 19)

#	Name	Status	NCT ID	Phase	Drugs
1	A Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency	Completed	NCT01757184	Phase 3	Sebelipase Alfa;Placebo
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 Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency	Completed	NCT02112994	Phase 2	Sebelipase Alfa
4	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
5	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
6	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
7	Identification of Undiagnosed Lysosomal Acid Lipase Deficiency	Unknown status	NCT01716728
8	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
9	Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients	Unknown status	NCT02851550
10	Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.	Unknown status	NCT02852304
11	A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype	Completed	NCT01358370
12	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
13	An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype	Completed	NCT01528917
14	Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity	Recruiting	NCT03564002
15	Prevalence and Mutation Rate of Lipa Gene in LIPIGEN Subjects With Clinical Diagnosis of FH	Recruiting	NCT03984149
16	An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency	Recruiting	NCT01633489
17	AN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY	No longer available	NCT02376751		sebelipase alfa
18	A Study to Identify the Frequency of Lysosomal Acid Lipase Deficiency in At-Risk Patient Populations	Terminated	NCT02345421
19	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 and Lipase Deficiency

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Genetic Tests for Lysosomal and Lipase Deficiency

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Anatomical Context for Lysosomal and Lipase Deficiency

MalaCards organs/tissues related to Lysosomal and Lipase Deficiency:

⁴⁰

Liver

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Publications for Lysosomal and Lipase Deficiency

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Genes for Lysosomal and Lipase Deficiency

Genes related to Lysosomal and Lipase Deficiency (0 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	LIPA	Lipase A, Lysosomal Acid Type	Protein Coding	10.17	DISEASES inferred ¹⁵
2	LIPF	Lipase F, Gastric Type	Protein Coding	7.49	DISEASES inferred ¹⁵
3	LIPM	Lipase Family Member M	Protein Coding	7.03	DISEASES inferred ¹⁵
4	LIPJ	Lipase Family Member J	Protein Coding	6.85	DISEASES inferred ¹⁵
5	NPC2	NPC Intracellular Cholesterol Transporter 2	Protein Coding	6.63	DISEASES inferred ¹⁵
6	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	6.54	DISEASES inferred ¹⁵
7	SOAT2	Sterol O-Acyltransferase 2	Protein Coding	6.28	DISEASES inferred ¹⁵
8	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	6.01	DISEASES inferred ¹⁵
9	CH25H	Cholesterol 25-Hydroxylase	Protein Coding	5.95	DISEASES inferred ¹⁵
10	CHIT1	Chitinase 1	Protein Coding	5.92	DISEASES inferred ¹⁵
11	LIPK	Lipase Family Member K	Protein Coding	5.76	DISEASES inferred ¹⁵
12	M6PR	Mannose-6-Phosphate Receptor, Cation Dependent	Protein Coding	5.72	DISEASES inferred ¹⁵
13	LIPE	Lipase E, Hormone Sensitive Type	Protein Coding	5.62	DISEASES inferred ¹⁵
14	TFEB	Transcription Factor EB	Protein Coding	5.61	DISEASES inferred ¹⁵
15	VSTM4	V-Set And Transmembrane Domain Containing 4	Protein Coding	5.6	DISEASES inferred ¹⁵
16	PNPLA5	Patatin Like Phospholipase Domain Containing 5	Protein Coding	5.54	DISEASES inferred ¹⁵
17	STAP1	Signal Transducing Adaptor Family Member 1	Protein Coding	5.54	DISEASES inferred ¹⁵
18	PNPLA2	Patatin Like Phospholipase Domain Containing 2	Protein Coding	5.51	DISEASES inferred ¹⁵
19	ABHD5	Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase	Protein Coding	5.5	DISEASES inferred ¹⁵
20	MGLL	Monoglyceride Lipase	Protein Coding	5.46	DISEASES inferred ¹⁵
21	PLIN3	Perilipin 3	Protein Coding	5.43	DISEASES inferred ¹⁵
22	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	5.42	DISEASES inferred ¹⁵

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Variations for Lysosomal and Lipase Deficiency

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Expression for Lysosomal and Lipase Deficiency

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

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Pathways for Lysosomal and Lipase Deficiency

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.51	SOAT2 SMPD1 PNPLA5 PNPLA2 NPC2 NPC1
2	Lipoprotein metabolism ⁶⁵ Show member pathways Chylomicron-mediated lipid transport ⁶⁵ Digestion of dietary lipid ⁶⁵ HDL-mediated lipid transport ⁶⁵ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁵ LDL-mediated lipid transport ⁶⁵ Lipid digestion, mobilization, and transport ⁶⁵ Reelin signalling pathway ⁶⁵ VLDL biosynthesis ⁶⁵ VLDL interactions ⁶⁵ VLDLR internalisation and degradation ⁶⁵	11.9	SOAT2 NPC2 NPC1 MGLL LIPM LIPK
3	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁶ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶⁰	11.81	SOAT2 NPC2 NPC1 LIPA
4	Lysosome ³⁶	11.66	SMPD1 NPC2 NPC1 M6PR LIPA
5	triacylglycerol biosynthesis ¹ Show member pathways CDP-diacylglycerol biosynthesis ¹ Triacylglyceride Synthesis ¹	11.55	PNPLA2 LIPF LIPE ABHD5
6	Glycerolipid metabolism ³⁶	11.44	PNPLA2 MGLL LIPF
7	Regulation of lipolysis in adipocytes ³⁶	11.38	PNPLA2 MGLL LIPE ABHD5
8	Mitochondrial LC-Fatty Acid Beta-Oxidation ¹ Show member pathways Fatty Acid Beta Oxidation ¹ fatty acid beta-oxidation (unsaturated, odd number) ¹	11.36	PNPLA2 LIPF LIPE
9	Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) ²³ Show member pathways Cholesterol and Sphingolipids transport / Generic schema (normal and CF) ²³	10.69	NPC2 NPC1 LIPA
10	triacylglycerol degradation ¹	10.47	PNPLA2 MGLL LIPE

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GO Terms for Lysosomal and Lipase Deficiency

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

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular membrane-bounded organelle	GO:0043231	9.73	STAP1 LIPK LIPJ LIPF LIPA ABHD5
2	lysosomal lumen	GO:0043202	9.33	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 and Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	steroid metabolic process	GO:0008202	9.77	SOAT2 NPC2 NPC1 LIPE CH25H
2	cholesterol homeostasis	GO:0042632	9.7	SOAT2 NPC2 NPC1
3	lipid homeostasis	GO:0055088	9.63	PNPLA5 PNPLA2 ABHD5
4	cholesterol metabolic process	GO:0008203	9.63	SOAT2 SMPD1 NPC2 NPC1 LIPE CH25H
5	triglyceride catabolic process	GO:0019433	9.62	PNPLA5 PNPLA2 MGLL LIPE
6	lipid catabolic process	GO:0016042	9.61	PNPLA5 PNPLA2 MGLL LIPM LIPK LIPJ
7	cholesterol efflux	GO:0033344	9.58	SOAT2 NPC2 NPC1
8	low-density lipoprotein particle clearance	GO:0034383	9.56	SOAT2 NPC2 NPC1 LIPA
9	cholesterol transport	GO:0030301	9.55	NPC2 NPC1
10	lysosomal transport	GO:0007041	9.54	NPC1 M6PR
11	intracellular cholesterol transport	GO:0032367	9.51	NPC2 NPC1
12	positive regulation of triglyceride catabolic process	GO:0010898	9.49	PNPLA2 ABHD5
13	acylglycerol acyl-chain remodeling	GO:0036155	9.48	PNPLA2 MGLL
14	lipid metabolic process	GO:0006629	9.47	SOAT2 PNPLA5 PNPLA2 NPC2 NPC1 MGLL
15	negative regulation of sequestering of triglyceride	GO:0010891	9.43	PNPLA2 ABHD5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity	GO:0016787	9.93	SMPD1 PNPLA5 PNPLA2 MGLL LIPM LIPK
2	cholesterol binding	GO:0015485	9.54	SOAT2 NPC2 NPC1
3	acylglycerol lipase activity	GO:0047372	9.43	MGLL LIPE
4	lipase activity	GO:0016298	9.43	MGLL LIPE LIPA
5	sterol esterase activity	GO:0004771	9.4	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

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