MCID: LYS024
MIFTS: 25

Lysosomal and Lipase Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Lysosomal and Lipase Deficiency

MalaCards integrated aliases for Lysosomal and Lipase Deficiency:

Name: Lysosomal and Lipase Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080217

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)

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:



Diseases related to Lysosomal and Lipase Deficiency

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

Drugs & Therapeutics for Lysosomal and Lipase Deficiency

Search Clinical Trials , NIH Clinical Center for Lysosomal and Lipase Deficiency

Genetic Tests for Lysosomal and Lipase Deficiency

Anatomical Context for Lysosomal and Lipase Deficiency

MalaCards organs/tissues related to Lysosomal and Lipase Deficiency:

41
Liver, Testes

Publications for Lysosomal and Lipase Deficiency

Variations for Lysosomal and Lipase Deficiency

Expression for Lysosomal and Lipase Deficiency

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

Pathways for Lysosomal and Lipase Deficiency

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

Sources for Lysosomal and Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....