MCID: LPS020
MIFTS: 31

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 53 13 51
Lipase Deficiency Combined 49 28 69
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 53 49
Combined Lipase Deficiency 71 36
Lpl and Htgl Deficiency 53 49
Lpl and Hl Deficiency 53 49
Cld 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
lipase deficiency, combined:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 246650
MedGen 39 C1855498
KEGG 36 H01101
SNOMED-CT via HPO 65 258211005
UMLS 69 C1855498

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 diarrhea 1, secretory chloride, congenital and congenital chloride diarrhea, 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 Statin Pathway and Lipoprotein metabolism. 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:

53
Misc:
lethal hyperchylomicronemia in mice
no reports yet in man

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


Clinical features from OMIM:

246650

Human phenotypes related to Lipase Deficiency, Combined:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

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

25
# 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

Search Clinical Trials , NIH Clinical Center for Lipase Deficiency, Combined

Genetic Tests for Lipase Deficiency, Combined

Genetic tests related to Lipase Deficiency, Combined:

# Genetic test Affiliating Genes
1 Lipase Deficiency Combined 28 LMF1

Anatomical Context for Lipase Deficiency, Combined

Publications for Lipase Deficiency, Combined

Articles related to Lipase Deficiency, Combined:

# Title Authors Year
1
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. ( 17994020 )
2007
2
Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. ( 11714855 )
2001
3
Molecular cloning of mouse hepatic triacylglycerol lipase: gene expression in combined lipase-deficient (cld/cld) mice. ( 2025643 )
1991

Variations for Lipase Deficiency, Combined

ClinVar genetic disease variations for Lipase Deficiency, Combined:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMF1 NM_022773.3(LMF1): c.1391G> A (p.Trp464Ter) single nucleotide variant Pathogenic rs587777626 GRCh37 Chromosome 16, 919908: 919908
2 LMF1 NM_022773.3(LMF1): c.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs121909397 GRCh37 Chromosome 16, 919982: 919982

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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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