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 homozygous familial hypercholesterolemia and xanthomatosis. 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. Affiliated tissues include liver and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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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:

#	Related Disease	Score	Top Affiliating Genes
1	homozygous familial hypercholesterolemia	9.9	APOB LDLRAP1
2	xanthomatosis	9.8	APOB LDLRAP1
3	arcus corneae	9.8	APOB LDLRAP1
4	hypercholesterolemia, familial	9.6	APOB LDLRAP1 LIPA SOAT2
5	cholesterol ester storage disease	9.5	APOB LDLRAP1 LIPA STAR
6	lysosomal acid lipase deficiency	9.4	COG6 LIPA MGAT1 SOAT2 STAR

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

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Symptoms & Phenotypes for Lysosomal and Lipase Deficiency

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

²⁶ (show all 12)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.4	LDLRAP1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.4	LDLRAP1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.4	LDLRAP1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.4	MGAT1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-41	9.4	MGAT1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.4	MGAT1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.4	MGAT1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.4	LDLRAP1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.4	MGAT1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	9.4	LDLRAP1 MGAT1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.4	LDLRAP1
12	Decreased free cholesterol	GR00340-A-2	8.96	APOB LDLRAP1

MGI Mouse Phenotypes related to Lysosomal and Lipase Deficiency:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.55	APOB COG6 LIPA MGAT1 SOAT2
2	homeostasis/metabolism	MP:0005376	9.43	APOB LDLRAP1 LIPA MGAT1 SOAT2 STAR
3	liver/biliary system	MP:0005370	8.92	APOB COG6 LIPA SOAT2

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Drugs & Therapeutics for Lysosomal and Lipase Deficiency

Search Clinical Trials , 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:

⁴¹

Liver, Testes

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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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	LIPA	Lipase A, Lysosomal Acid Type	Protein Coding	20.02	DISEASES inferred ¹⁵
2	SOAT2	Sterol O-Acyltransferase 2	Protein Coding	16.62	DISEASES inferred ¹⁵
3	COG6	Component Of Oligomeric Golgi Complex 6	Protein Coding	14.95	DISEASES inferred ¹⁵
4	MGAT1	Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase	Protein Coding	14.91	DISEASES inferred ¹⁵
5	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	14.88	DISEASES inferred ¹⁵
6	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	14.72	DISEASES inferred ¹⁵
7	APOB	Apolipoprotein B	Protein Coding	14.66	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 ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.27	APOB LDLRAP1 LIPA MGAT1 SOAT2 STAR
2	Lipoprotein metabolism ⁶⁶ Show member pathways Chylomicron-mediated lipid transport ⁶⁶ Digestion of dietary lipid ⁶⁶ HDL-mediated lipid transport ⁶⁶ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁶ LDL-mediated lipid transport ⁶⁶ Lipid digestion, mobilization, and transport ⁶⁶ Reelin signalling pathway ⁶⁶ VLDL biosynthesis ⁶⁶ VLDL interactions ⁶⁶ VLDLR internalisation and degradation ⁶⁶	11.79	APOB LDLRAP1 LIPA SOAT2
3	cholesterol biosynthesis I ¹ Show member pathways cholesterol biosynthesis II (via 24,25-dihydrolanosterol) ¹ cholesterol biosynthesis III (via desmosterol) ¹ Cholesterol biosynthesis via desmosterol ⁶⁶ Cholesterol biosynthesis via lathosterol ⁶⁶ epoxysqualene biosynthesis ¹ lanosterol biosynthesis ¹ Steroid biosynthesis ³⁷ zymosterol biosynthesis ¹	11.13	LIPA SOAT2
4	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁷ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶¹	11.09	APOB LDLRAP1 LIPA SOAT2 STAR

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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	lysosomal lumen	GO:0043202	8.62	APOB LIPA

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.71	APOB LDLRAP1 LIPA SOAT2
2	lipid transport	GO:0006869	9.52	APOB STAR
3	membrane organization	GO:0061024	9.51	APOB LDLRAP1
4	steroid metabolic process	GO:0008202	9.5	APOB LDLRAP1 SOAT2
5	lipid catabolic process	GO:0016042	9.49	APOB LIPA
6	response to organic substance	GO:0010033	9.48	APOB STAR
7	cellular lipid metabolic process	GO:0044255	9.46	LIPA STAR
8	cholesterol efflux	GO:0033344	9.43	APOB SOAT2
9	cholesterol homeostasis	GO:0042632	9.43	APOB LDLRAP1 SOAT2
10	very-low-density lipoprotein particle assembly	GO:0034379	9.37	APOB SOAT2
11	cholesterol transport	GO:0030301	9.33	APOB LDLRAP1 STAR
12	cholesterol metabolic process	GO:0008203	9.26	APOB LDLRAP1 SOAT2 STAR
13	low-density lipoprotein particle clearance	GO:0034383	8.92	APOB LDLRAP1 LIPA SOAT2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol binding	GO:0015485	9.16	SOAT2 STAR
2	low-density lipoprotein particle receptor binding	GO:0050750	8.96	APOB LDLRAP1
3	cholesterol transporter activity	GO:0017127	8.62	APOB STAR

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Sources for Lysosomal and Lipase Deficiency

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