MCID: LYS024
MIFTS: 24

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 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

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:



Diseases related to Lysosomal and Lipase Deficiency

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

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

Genetic Tests for Lysosomal and Lipase Deficiency

Anatomical Context for Lysosomal and Lipase Deficiency

MalaCards organs/tissues related to Lysosomal and Lipase Deficiency:

40
Liver

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 SOAT2 SMPD1 PNPLA5 PNPLA2 NPC2 NPC1
2
Show member pathways
11.9 SOAT2 NPC2 NPC1 MGLL LIPM LIPK
3
Show member pathways
11.81 SOAT2 NPC2 NPC1 LIPA
4 11.66 SMPD1 NPC2 NPC1 M6PR LIPA
5
Show member pathways
11.55 PNPLA2 LIPF LIPE ABHD5
6 11.44 PNPLA2 MGLL LIPF
7 11.38 PNPLA2 MGLL LIPE ABHD5
8
Show member pathways
11.36 PNPLA2 LIPF LIPE
9
Show member pathways
10.69 NPC2 NPC1 LIPA
10 10.47 PNPLA2 MGLL LIPE

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

Sources for Lysosomal and Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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