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 57 13 55
Lipase Deficiency Combined 53 29 6 40 73
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 57 53
Combined Lipase Deficiency 75 37
Lpl and Htgl Deficiency 57 53
Lpl and Hl Deficiency 57 53
Cld 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lipase deficiency, combined:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 246650
MedGen 42 C1855498
KEGG 37 H01101
SNOMED-CT via HPO 69 258211005
UMLS 73 C1855498

Summaries for Lipase Deficiency, Combined

UniProtKB/Swiss-Prot : 75 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. 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 phenotypes are abnormality of metabolism/homeostasis and 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:

57
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:

32
# 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
# 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 29 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
4
Lipoprotein lipase mRNA in neonatal and adult mouse tissues: comparison of normal and combined lipase deficiency (cld) mice assessed by in situ hybridization. ( 2079607 )
1990

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.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs121909397 GRCh37 Chromosome 16, 919982: 919982
2 LMF1 NM_022773.3(LMF1): c.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs121909397 GRCh38 Chromosome 16, 869982: 869982
3 LMF1 NM_022773.3(LMF1): c.1391G> A (p.Trp464Ter) single nucleotide variant Pathogenic rs587777626 GRCh38 Chromosome 16, 869908: 869908
4 LMF1 NM_022773.3(LMF1): c.1391G> A (p.Trp464Ter) single nucleotide variant Pathogenic rs587777626 GRCh37 Chromosome 16, 919908: 919908
5 LMF1 NM_022773.3(LMF1): c.1292C> A (p.Ala431Asp) single nucleotide variant Benign rs115416993 GRCh37 Chromosome 16, 920007: 920007
6 LMF1 NM_022773.3(LMF1): c.1292C> A (p.Ala431Asp) single nucleotide variant Benign rs115416993 GRCh38 Chromosome 16, 870007: 870007

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 cholesterol homeostasis GO:0042632 9.43 LIPC LPL
3 fatty acid biosynthetic process GO:0006633 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 very-low-density lipoprotein particle remodeling GO:0034372 9.16 LIPC LPL
8 chylomicron remnant clearance GO:0034382 8.96 LIPC LMF1
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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