Lipase Deficiency, Combined disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 246650

MedGen ⁴² C1855498

KEGG ³⁷ H01101

SNOMED-CT via HPO ⁶⁹ 258211005

UMLS ⁷³ C1855498

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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

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Related Diseases for Lipase Deficiency, Combined

Diseases related to Lipase Deficiency, Combined via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	diarrhea 1, secretory chloride, congenital	11.3
2	congenital chloride diarrhea	11.3
3	liver disease	10.2
4	hepatitis	10.1
5	diarrhea	10.0
6	lactase deficiency, congenital	9.8
7	hyperlipidemia, combined, 1	9.7	LIPC LPL
8	hepatic lipase deficiency	9.7	LIPC LPL
9	homozygous familial hypercholesterolemia	9.6	LIPC LPL
10	hyperlipoproteinemia, type iv	9.6	LIPC LPL
11	hypoalphalipoproteinemia, primary	9.6	LIPC LPL
12	hypertriglyceridemia, familial	9.6	LIPC LPL
13	hyperlipoproteinemia, type iii	9.6	LIPC LPL
14	hyperalphalipoproteinemia 1	9.5	LIPC LPL
15	coronary heart disease 1	9.5	LIPC LPL
16	familial hyperlipidemia	9.4	LIPC LPL
17	lipid metabolism disorder	9.3	LIPC LPL
18	hypercholesterolemia, familial	9.2	LIPC LPL
19	coronary artery anomaly	9.0	LIPC LPL
20	familial lipoprotein lipase deficiency	9.0	LIPC LMF1 LPL

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

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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

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Drugs & Therapeutics for Lipase Deficiency, Combined

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

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Genetic Tests for Lipase Deficiency, Combined

Genetic tests related to Lipase Deficiency, Combined:

#	Genetic test	Affiliating Genes
1	Lipase Deficiency Combined ²⁹	LMF1

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Anatomical Context for Lipase Deficiency, Combined

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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 )	Peterfy M....Doolittle M.H.	2007
2	Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. ( 11714855 )	Boedeker J.C....White A.L.	2001
3	Molecular cloning of mouse hepatic triacylglycerol lipase: gene expression in combined lipase-deficient (cld/cld) mice. ( 2025643 )	Oka K....Brown W.V.	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 )	Yacoub L.K....Goldberg I.J.	1990

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Genes for Lipase Deficiency, Combined

Genes related to Lipase Deficiency, Combined (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LMF1	Lipase Maturation Factor 1	Protein Coding	1017.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	17994020 19820022
2	LIPC	Lipase C, Hepatic Type	Protein Coding	19.63	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11714855 17994020 2025643
3	LPL	Lipoprotein Lipase	Protein Coding	18.41	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11714855 17994020 2025643

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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

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Expression for Lipase Deficiency, Combined

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

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Pathways for Lipase Deficiency, Combined

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

#	Super pathways	Score	Top Affiliating Genes
1	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁷ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶¹	11.39	LIPC LPL
2	Lipoprotein metabolism ⁶⁶ Show member pathways Chylomicron-mediated lipid transport ⁶⁶ Digestion of dietary lipid ⁶⁶ HDL-mediated lipid transport ⁶⁶ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁶ LDL-mediated lipid transport ⁶⁶ Lipid digestion, mobilization, and transport ⁶⁶ Reelin signalling pathway ⁶⁶ VLDL biosynthesis ⁶⁶ VLDL interactions ⁶⁶ VLDLR internalisation and degradation ⁶⁶	11.33	LIPC LMF1 LPL
3	triacylglycerol biosynthesis ¹ Show member pathways CDP-diacylglycerol biosynthesis ¹ Triacylglyceride Synthesis ¹	11.1	LIPC LPL
4	Glycerolipid metabolism ³⁷	10.94	LIPC LPL
5	Mitochondrial LC-Fatty Acid Beta-Oxidation ¹ Show member pathways Fatty Acid Beta Oxidation ¹ fatty acid beta-oxidation (unsaturated, odd number) ¹	10.68	LIPC LPL

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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

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Sources for Lipase Deficiency, Combined

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia