MCID: LPS020
MIFTS: 34

Lipase Deficiency, Combined

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Lipase Deficiency, Combined

MalaCards integrated aliases for Lipase Deficiency, Combined:

Name: Lipase Deficiency, Combined 54 24 13 52
Lipase Deficiency Combined 50 29 69
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 50 24
Combined Lipase Deficiency 71
Lpl and Htgl Deficiency 50
Lpl and Hl Deficiency 50
Cld 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
lipase deficiency, combined:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 246650
MedGen 40 C1855498
SNOMED-CT via HPO 65 258211005

Summaries for Lipase Deficiency, Combined

UniProtKB/Swiss-Prot : 71 Combined lipase deficiency: Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).

MalaCards based summary : Lipase Deficiency, Combined, also known as lipase deficiency combined, is related to congenital chloride diarrhea and diarrhea 1, secretory chloride, congenital, and has symptoms including abnormality of metabolism/homeostasis An important gene associated with Lipase Deficiency, Combined is LMF1 (Lipase Maturation Factor 1), and among its related pathways/superpathways are triacylglycerol biosynthesis and Lipoprotein metabolism. The drugs Ritonavir and Tipranavir have been mentioned in the context of this disorder. Related phenotype is Decreased free cholesterol.

Description from OMIM: 246650

Related Diseases for Lipase Deficiency, Combined

Graphical network of the top 20 diseases related to Lipase Deficiency, Combined:



Diseases related to Lipase Deficiency, Combined

Symptoms & Phenotypes for Lipase Deficiency, Combined

Symptoms via clinical synopsis from OMIM:

54

Lab:
lipoprotein lipase (lpl) deficiency
hepatic triglyceride lipase (htgl) deficiency

Misc:
no reports yet in man
lethal hyperchylomicronemia in mice


Clinical features from OMIM:

246650

Human phenotypes related to Lipase Deficiency, Combined:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939

GenomeRNAi Phenotypes related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 LIPC LPL

Drugs & Therapeutics for Lipase Deficiency, Combined

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

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
2
Tipranavir Approved, Investigational Phase 2, Phase 3 174484-41-4 65027
3
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
4
Lopinavir Approved Phase 3 192725-17-0 92727
5
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
6 Dolutegravir Approved Phase 3 1051375-16-6 54726191
7
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
8
Cobicistat Approved Phase 3 1004316-88-4
9
Darunavir Approved Phase 3 635728-49-3, 206361-99-1 213039
10 Anti-HIV Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Anti-Retroviral Agents Phase 2, Phase 3
13 Antiviral Agents Phase 2, Phase 3
14 Cytochrome P-450 CYP3A Inhibitors Phase 2, Phase 3
15 Cytochrome P-450 Enzyme Inhibitors Phase 2, Phase 3
16 HIV Protease Inhibitors Phase 2, Phase 3
17
protease inhibitors Phase 2, Phase 3
18 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
19 HIV Integrase Inhibitors Phase 3
20 Integrase Inhibitors Phase 3
21 Nucleic Acid Synthesis Inhibitors Phase 3
22 Raltegravir Potassium Phase 3
23 Reverse Transcriptase Inhibitors Phase 3
24
Tenofovir Phase 3 147127-20-6 464205
25 Antimetabolites Phase 3
26 Atazanavir Sulfate Phase 3
27 Dideoxynucleosides Phase 3
28 Adjuvants, Immunologic Phase 1
29 Wobenzym Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3 Tipranavir
2 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3 lopinavir/ritonavir (LPV/r);emtricitabine/tenofovir disoproxil fumarate (FTC/TDF);raltegravir (RAL)
3 A Study to Determine Safety and Efficacy of Dolutegravir/Abacavir/Lamivudine (DTG/ABC/3TC) in Human Immunodeficiency Virus (HIV)-1 Infected Antiretroviral Therapy (ART) Naïve Women (ARIA) Active, not recruiting NCT01910402 Phase 3 Dolutegravir/abacavir/lamivudine FDC;Atazanavir;Ritonavir;Tenofovir/emtricitabine FDC
4 National Multicenter Trial Evaluating Two Treatments in Patients With Primary Human Immunodeficiency Virus (HIV-1) Infection Not yet recruiting NCT02987530 Phase 3 Dolutegravir;Darunavir-cobicistat;Emtricitabine-Tenofovir
5 Study Of Chemokine Coreceptor 5 (CCR5) Antagonist GW873140 In R5-Tropic Treatment-Experienced HIV-Infected Subjects Terminated NCT00197145 Phase 3 GW873140
6 The Safety of Four Different Dose Levels of Wobenzym in HIV-Positive Patients Completed NCT00002311 Phase 1 Wobenzym

Search NIH Clinical Center for Lipase Deficiency, Combined

Genetic Tests for Lipase Deficiency, Combined

Genetic tests related to Lipase Deficiency, Combined:

id Genetic test Affiliating Genes
1 Lipase Deficiency Combined 29
2 Lipase Deficiency, Combined 24 LMF1

Anatomical Context for Lipase Deficiency, Combined

Publications for Lipase Deficiency, Combined

Variations for Lipase Deficiency, Combined

ClinVar genetic disease variations for Lipase Deficiency, Combined:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMF1 NM_022773.3(LMF1): c.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs121909397 GRCh37 Chromosome 16, 919982: 919982
2 LMF1 NM_022773.3(LMF1): c.1391G> A (p.Trp464Ter) single nucleotide variant Pathogenic rs587777626 GRCh38 Chromosome 16, 869908: 869908

Expression for Lipase Deficiency, Combined

Search GEO for disease gene expression data for Lipase Deficiency, Combined.

Pathways for Lipase Deficiency, Combined

GO Terms for Lipase Deficiency, Combined

Biological processes related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.46 LIPC LPL
2 fatty acid biosynthetic process GO:0006633 9.43 LIPC LPL
3 cholesterol homeostasis GO:0042632 9.4 LIPC LPL
4 triglyceride metabolic process GO:0006641 9.37 LMF1 LPL
5 triglyceride homeostasis GO:0070328 9.32 LIPC LPL
6 triglyceride catabolic process GO:0019433 9.26 LIPC LPL
7 chylomicron remnant clearance GO:0034382 9.16 LIPC LMF1
8 very-low-density lipoprotein particle remodeling GO:0034372 8.96 LIPC LPL
9 regulation of lipoprotein lipase activity GO:0051004 8.8 LIPC LMF1 LPL

Molecular functions related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.32 LIPC LPL
2 carboxylic ester hydrolase activity GO:0052689 9.26 LIPC LPL
3 triglyceride lipase activity GO:0004806 9.16 LIPC LPL
4 apolipoprotein binding GO:0034185 8.96 LIPC LPL
5 phospholipase activity GO:0004620 8.62 LIPC LPL

Sources for Lipase Deficiency, Combined

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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