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MCID: LYS024
MIFTS: 23

Lysosomal and Lipase Deficiency

Categories: Genetic diseases, Metabolic diseases
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Aliases & Classifications for Lysosomal and Lipase Deficiency

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MalaCards integrated aliases for Lysosomal and Lipase Deficiency:

Name: Lysosomal and Lipase Deficiency 11 14

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases
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External Ids:

Disease Ontology 11 DOID:0080217
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Summaries for Lysosomal and Lipase Deficiency

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Disease Ontology: 11 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 Transport of inorganic cations/anions and amino acids/oligopeptides and Plasma lipoprotein assembly, remodeling, and clearance. Related phenotypes are Increased free cholesterol and homeostasis/metabolism
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Related Diseases for Lysosomal and Lipase Deficiency

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

(show top 50) (show all 76)
# 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 gaucher disease, perinatal lethal 10.2 NPC1 LIPA CHIT1
7 fusariosis 10.2 LIPM LIPJ
8 narcolepsy 1 10.2 NPC2 NPC1
9 farber lipogranulomatosis 10.2 SMPD1 NPC2 NPC1
10 obstructive jaundice 10.2 NPC2 NPC1 LCAT
11 niemann-pick disease, type c2 10.2 SMPD1 NPC2 NPC1 LIPA
12 smith-lemli-opitz syndrome 10.1 NPC1 LIPA ABCA1
13 hypoalphalipoproteinemia 10.1 LCAT APOB ABCA1
14 sandhoff disease 10.1 SMPD1 NPC2 NPC1 IGF2R
15 mannosidosis, alpha b, lysosomal 10.1 LIPA IGF2R IDUA
16 ceroid lipofuscinosis, neuronal, 3 10.1 NPC1 M6PR IGF2R
17 homozygous familial hypercholesterolemia 10.1 APOB ABCG5
18 pick disease of brain 10.1 SMPD1 NPC2 NPC1
19 hypoalphalipoproteinemia, primary, 2 10.1 LCAT APOB ABCA1
20 fetal macrosomia 10.1 LCAT APOB
21 gaucher disease, type iiic 10.1 M6PR CHIT1
22 mucopolysaccharidosis, type ivb 10.1 NPC2 IGF2R IDUA
23 niemann-pick disease, type b 10.1 SMPD1 NPC2 NPC1 LIPA CHIT1
24 arcus corneae 10.0 LCAT APOB ABCG5
25 neuroaxonal dystrophy 10.0 PNPLA2 NPC2 NPC1
26 hyperalphalipoproteinemia 1 10.0 LCAT APOB ABCA1
27 mucopolysaccharidosis iv 10.0 M6PR IGF2R IDUA
28 lipodystrophy, familial partial, type 4 10.0 PNPLA2 ABHD5
29 mucopolysaccharidosis, type vii 10.0 M6PR IGF2R IDUA
30 hurler syndrome 10.0 M6PR IGF2R IDUA
31 glycogen storage disease ii 10.0 M6PR IGF2R IDUA
32 sea-blue histiocyte disease 10.0 SMPD1 PNPLA5 LIPA LCAT
33 corneal degeneration 10.0 APOB ABCG5
34 aortic atherosclerosis 10.0 APOB ABCA1
35 cerebral lipidosis 10.0 SMPD1 NPC1 M6PR IGF2R CHIT1
36 mucopolysaccharidosis, type vi 9.9 M6PR LIPA IGF2R IDUA
37 hypercholesterolemia, familial, 1 9.9 SOAT2 LCAT APOB ABCG5
38 aspartylglucosaminuria 9.9 NPC2 M6PR IGF2R IDUA
39 mucopolysaccharidosis-plus syndrome 9.9 NPC1 M6PR IGF2R IDUA
40 galactosialidosis 9.9 M6PR IGF2R IDUA CHIT1
41 mucolipidosis ii alpha/beta 9.9 SMPD1 M6PR IGF2R IDUA
42 gaucher disease, type i 9.9 SMPD1 NPC2 NPC1 IDUA CHIT1
43 hypolipoproteinemia 9.9 LCAT APOB ABCG5 ABCA1
44 hypoalphalipoproteinemia, primary, 1 9.9 LCAT APOB ABCG5 ABCA1
45 gm2 gangliosidosis 9.9 SMPD1 NPC2 NPC1 IGF2R IDUA
46 c syndrome 9.9 SMPD1 NPC2 NPC1 LIPA IGF2R ABCA1
47 mucopolysaccharidosis, type ii 9.9 NPC1 M6PR LIPA IGF2R IDUA
48 mucolipidosis iii alpha/beta 9.9 M6PR IGF2R
49 mucopolysaccharidosis, type iiib 9.9 NPC2 NPC1 M6PR IGF2R IDUA
50 scheie syndrome 9.9 NPC2 NPC1 M6PR IGF2R IDUA

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



Diseases related to Lysosomal and Lipase Deficiency
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Symptoms & Phenotypes for Lysosomal and Lipase Deficiency

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GenomeRNAi Phenotypes related to Lysosomal and 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 and 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
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Drugs & Therapeutics for Lysosomal and Lipase Deficiency

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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

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Publications for Lysosomal and Lipase Deficiency

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Variations for Lysosomal and Lipase Deficiency

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Expression for Lysosomal and Lipase Deficiency

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

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

# Super pathways Score Top Affiliating Genes
1
Transport of inorganic cations/anions and amino acids/oligopeptides 66
Show member pathways
 13.06 SOAT2 NPC2 NPC1 LIPA LCAT APOB
2
Plasma lipoprotein assembly, remodeling, and clearance 66
Show member pathways
 11.64 SOAT2 NPC2 NPC1 LIPA LCAT APOB
3
Statin inhibition of cholesterol production 74
Show member pathways
 11.44 LCAT APOB ABCG5 ABCA1
4
Triacylglyceride synthesis 74
Show member pathways
 11.26 PNPLA2 LIPF ABHD5
5
Lipid metabolism pathway 74
10.63 PNPLA2 ABHD5
6
Degradation pathway of sphingolipids, including diseases 74
10.48 NPC2 NPC1 LIPA
7
Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) 22
Show member pathways
 10.28 NPC2 NPC1 LIPA
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GO Terms for Lysosomal and Lipase Deficiency

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Cellular components related to Lysosomal and 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 and 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 and 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
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Sources for Lysosomal and Lipase Deficiency

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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