MCID: LPS020
MIFTS: 30

Lipase Deficiency, Combined malady

Genetic diseases, Rare diseases categories

Summaries for Lipase Deficiency, Combined

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MalaCards based summary: Lipase Deficiency, Combined, also known as lipase deficiency combined, is related to hepatic lipase deficiency and hyperalphalipoproteinemia, and has symptoms including autosomal recessive inheritanceand abnormality of metabolism/homeostasis. An important gene associated with Lipase Deficiency, Combined is LMF1 (lipase maturation factor 1), and among its related pathways are Glycerolipid metabolism and Lipoprotein metabolism. The compounds trioleoylglycerol and stanozolol have been mentioned in the context of this disorder.

Description from OMIM:45 246650

Aliases & Classifications for Lipase Deficiency, Combined

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 41NIH Rare Diseases, 60UMLS
See all sources

Lipase Deficiency, Combined, Aliases & Descriptions:

Name: Lipase Deficiency, Combined 45 10 43
Lipase Deficiency Combined 41 60
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 41
 
Lpl and Htgl Deficiency 41
Lpl and Hl Deficiency 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


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OMIM45 246650

Related Diseases for Lipase Deficiency, Combined

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Graphical network of diseases related to Lipase Deficiency, Combined:



Diseases related to lipase deficiency, combined

Symptoms for Lipase Deficiency, Combined

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Symptoms by clinical synopsis from OMIM:

246650

Clinical features from OMIM:

246650

HPO human phenotypes related to Lipase Deficiency, Combined:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Lipase Deficiency, Combined

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Drug clinical trials:

Search ClinicalTrials for Lipase Deficiency, Combined

Search NIH Clinical Center for Lipase Deficiency, Combined

Genetic Tests for Lipase Deficiency, Combined

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Anatomical Context for Lipase Deficiency, Combined

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Animal Models for Lipase Deficiency, Combined or affiliated genes

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Publications for Lipase Deficiency, Combined

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Variations for Lipase Deficiency, Combined

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Clinvar genetic disease variations for Lipase Deficiency, Combined:

6
id Gene Variation Type Significance SNP ID Assembly Location
1LMF1NM_022773.2(LMF1): c.1391G> A (p.Trp464Ter)single nucleotide variantPathogenicGRCh38Chr 16, 869908: 869908
2LMF1NM_022773.2(LMF1): c.1317C> G (p.Tyr439Ter)single nucleotide variantPathogenicrs121909397GRCh37Chr 16, 919982: 919982

Expression for genes affiliated with Lipase Deficiency, Combined

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

Pathways for genes affiliated with Lipase Deficiency, Combined

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1LPL, LIPC
2
Show member pathways
9.1LPL, LIPC
3
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)36
CDP-diacylglycerol biosynthesis I36
Triacylglyceride Synthesis36
9.1LIPC, LPL
4
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)36
Fatty Acid Beta Oxidation36
9.1LPL, LIPC
5
Show member pathways
9.1LPL, LIPC

Compounds for genes affiliated with Lipase Deficiency, Combined

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Sources:
43Novoseek, 24HMDB
See all sources

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

(show top 50)    (show all 1160)
idCompoundScoreTop Affiliating Genes
1trioleoylglycerol439.6LIPC, LPL
2stanozolol439.6LPL, LIPC
3castanospermine439.6LPL, LIPC
4intralipid439.6LIPC, LPL
5hind iii439.6LIPC, LPL
6TG(18:3(9Z,12Z,15Z)/18:1(11Z)/18:3(9Z,12Z,15Z))[iso3]249.6LIPC, LPL
7TG(18:3(9Z,12Z,15Z)/18:1(9Z)/18:3(9Z,12Z,15Z))[iso3]249.6LPL, LIPC
8TG(18:3(9Z,12Z,15Z)/18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]249.6LPL, LIPC
9TG(18:3(9Z,12Z,15Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.6LPL, LIPC
10TG(20:4(5Z,8Z,11Z,14Z)/18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso3]249.6LPL, LIPC
11TG(18:3(9Z,12Z,15Z)/18:0/18:3(9Z,12Z,15Z))[iso3]249.6LIPC, LPL
12TG(18:2(9Z,12Z)/18:1(9Z)/20:2(11Z,14Z))[iso6]249.6LIPC, LPL
13TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:3(8Z,11Z,14Z))[iso3]249.6LPL, LIPC
14TG(18:2(9Z,12Z)/18:2(9Z,12Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso3]249.5LPL, LIPC
15TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:4(7Z,10Z,13Z,16Z))[iso3]249.5LPL, LIPC
16TG(18:2(9Z,12Z)/18:2(9Z,12Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.5LPL, LIPC
17TG(20:4(5Z,8Z,11Z,14Z)/18:1(9Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.5LPL, LIPC
18TG(20:4(5Z,8Z,11Z,14Z)/18:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.5LPL, LIPC
19TG(22:5(7Z,10Z,13Z,16Z,19Z)/16:0/22:5(7Z,10Z,13Z,16Z,19Z))[iso3]249.5LPL, LIPC
20TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/16:1(9Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.5LPL, LIPC
21TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.5LPL, LIPC
22TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:2(9Z,12Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.5LPL, LIPC
23TG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:3(9Z,12Z,15Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso3]249.5LPL, LIPC
24TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:3(9Z,12Z,15Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))[iso6]249.5LIPC, LPL
25TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/18:3(9Z,12Z,15Z))[iso6]249.5LPL, LIPC
26TG(20:4(5Z,8Z,11Z,14Z)/18:2(9Z,12Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso6]249.5LPL, LIPC
27TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:3(9Z,12Z,15Z)/20:5(5Z,8Z,11Z,14Z,17Z))[iso3]249.5LPL, LIPC
28TG(20:5(5Z,8Z,11Z,14Z,17Z)/18:3(9Z,12Z,15Z)/22:5(7Z,10Z,13Z,16Z,19Z))[iso6]249.5LPL, LIPC
29TG(15:0/18:1(9Z)/16:1(9Z))[iso6]249.5LPL, LIPC
30TG(16:0/16:0/18:3(9Z,12Z,15Z))[iso3]249.5LPL, LIPC
31TG(16:1(9Z)/14:0/16:1(9Z))[iso3]249.5LPL, LIPC
32TG(16:1(9Z)/18:0/18:1(11Z))[iso6]249.5LPL, LIPC
33TG(18:1(11Z)/14:0/18:1(11Z))[iso3]249.5LPL, LIPC
34TG(18:1(11Z)/18:0/18:1(9Z))[iso6]249.4LPL, LIPC
35TG(16:0/16:0/18:1(11Z))[iso3]249.4LIPC, LPL
36TG(15:0/18:1(9Z)/18:1(9Z))[iso3]249.4LPL, LIPC
37TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]249.4LPL, LIPC
38TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]249.4LPL, LIPC
39TG(15:0/18:2(9Z,12Z)/16:0)[iso6]249.4LPL, LIPC
40TG(18:1(11Z)/18:0/18:2(9Z,12Z))[iso6]249.4LPL, LIPC
41TG(18:1(9Z)/18:1(9Z)/20:3(5Z,8Z,11Z))[iso3]249.4LIPC, LPL
42TG(18:2(9Z,12Z)/18:1(11Z)/18:2(9Z,12Z))[iso3]249.3LPL, LIPC
43TG(18:2(9Z,12Z)/18:1(11Z)/20:4(5Z,8Z,11Z,14Z))[iso6]249.3LPL, LIPC
44TG(18:2(9Z,12Z)/18:1(9Z)/18:3(6Z,9Z,12Z))[iso6]249.3LPL, LIPC
45TG(18:2(9Z,12Z)/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]249.2LPL, LIPC
46TG(18:1(9Z)/18:1(9Z)/20:2(11Z,14Z))[iso3]249.2LIPC, LPL
47TG(18:1(9Z)/14:0/18:1(9Z))[iso3]249.1LPL, LIPC
48TG(18:1(9Z)/18:1(9Z)/18:3(9Z,12Z,15Z))[iso3]249.1LPL, LIPC
49TG(18:1(9Z)/14:0/18:2(9Z,12Z))[iso6]249.0LPL, LIPC
50TG(18:1(9Z)/14:0/20:4(5Z,8Z,11Z,14Z))[iso6]248.8LPL, LIPC

GO Terms for genes affiliated with Lipase Deficiency, Combined

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

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particle remodelingGO:00343729.1LPL, LIPC
2fatty acid biosynthetic processGO:00066339.1LPL, LIPC
3chylomicron remnant clearanceGO:00343829.1LIPC, LMF1
4triglyceride catabolic processGO:00194339.0LIPC, LPL
5triglyceride homeostasisGO:00703288.8LPL, LIPC

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

idNameGO IDScoreTop Affiliating Genes
1phospholipase activityGO:00046209.1LPL, LIPC
2heparin bindingGO:00082019.1LPL, LIPC
3apolipoprotein bindingGO:00341859.0LPL, LIPC
4triglyceride lipase activityGO:00048068.8LPL, LIPC

Products for genes affiliated with Lipase Deficiency, Combined

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lipase Deficiency, Combined

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet