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 ⁵⁸ ¹³ ⁵⁶

Lipase Deficiency Combined ⁵⁴ ³⁰ ⁶ ⁴¹ ⁷⁴

Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency ⁵⁸ ⁵⁴

Combined Lipase Deficiency ⁷⁶ ³⁸

Lpl and Htgl Deficiency ⁵⁸ ⁵⁴

Lpl and Hl Deficiency ⁵⁸ ⁵⁴

Familial Lipase Maturation Factor 1 Deficiency ⁶⁰

Familial Lmf1 Deficiency ⁶⁰

Cld ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

lipase deficiency, combined:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Inborn errors of metabolism

Rare endocrine diseases

External Ids:

OMIM ⁵⁸ 246650

KEGG ³⁸ H01101

Orphanet ⁶⁰ ORPHA535453

MedGen ⁴³ C1855498

SNOMED-CT via HPO ⁷⁰ 258211005

UMLS ⁷⁴ C1855498

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Summaries for Lipase Deficiency, Combined

UniProtKB/Swiss-Prot : ⁷⁶ 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 hypertriglyceridemia, familial and diarrhea 1, secretory chloride, congenital. 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. Affiliated tissues include liver and heart, and related phenotypes are abnormality of metabolism/homeostasis and Decreased free cholesterol

Description from OMIM: 246650

Sources

Related Diseases for Lipase Deficiency, Combined

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

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	hypertriglyceridemia, familial	29.4	LIPC LPL
2	diarrhea 1, secretory chloride, congenital	11.5
3	congenital chloride diarrhea	11.5
4	liver disease	10.4
5	diarrhea	10.1
6	lactase deficiency, congenital	10.0
7	hepatitis c virus	10.0
8	intraocular pressure quantitative trait locus	10.0
9	hepatitis	10.0
10	hepatitis c	10.0
11	learning disability	10.0
12	autoimmune progesterone dermatitis	10.0
13	hypoxia	10.0
14	hyperlipidemia, combined, 1	9.8	LIPC LPL
15	hepatic lipase deficiency	9.8	LIPC LPL
16	hypoalphalipoproteinemia, primary	9.8	LIPC LPL
17	hyperlipoproteinemia, type iii	9.8	LIPC LPL
18	hyperalphalipoproteinemia 1	9.7	LIPC LPL
19	familial hyperlipidemia	9.7	LIPC LPL
20	lipid metabolism disorder	9.7	LIPC LPL
21	coronary heart disease 1	9.6	LIPC LPL
22	hypercholesterolemia, familial	9.5	LIPC LPL
23	familial lipoprotein lipase deficiency	9.5	LIPC LMF1 LPL

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

Sources

Symptoms & Phenotypes for Lipase Deficiency, Combined

Human phenotypes related to Lipase Deficiency, Combined:

³³

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of metabolism/homeostasis ³³		HP:0001939

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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

²⁷

#	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 ³⁰	LMF1

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Anatomical Context for Lipase Deficiency, Combined

MalaCards organs/tissues related to Lipase Deficiency, Combined:

⁴²

Liver, Heart

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Publications for Lipase Deficiency, Combined

Articles related to Lipase Deficiency, Combined:

#	Title	Authors	Year
1	Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia. ( 19820022 )	Cefal? AB...Averna MR	2009
2	Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. ( 17994020 )	P?terfy M...Doolittle MH	2007
3	Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. ( 11714855 )	Boedeker JC...White AL	2001
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 LK...Goldberg IJ	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	1368.03	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	17994020 19820022
2	LIPC	Lipase C, Hepatic Type	Protein Coding	19.63	Novoseek inferred ⁵⁶	11714855 17994020 2025643
3	LPL	Lipoprotein Lipase	Protein Coding	18.41	Novoseek inferred ⁵⁶	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 ³⁸ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶²	11.39	LIPC LPL
2	Lipoprotein metabolism ⁶⁷ Show member pathways Chylomicron-mediated lipid transport ⁶⁷ Digestion of dietary lipid ⁶⁷ HDL-mediated lipid transport ⁶⁷ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis ⁶⁷ LDL-mediated lipid transport ⁶⁷ Lipid digestion, mobilization, and transport ⁶⁷ Reelin signalling pathway ⁶⁷ VLDL biosynthesis ⁶⁷ VLDL interactions ⁶⁷ VLDLR internalisation and degradation ⁶⁷	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 ³⁸	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

Sources

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lipase Deficiency, Combined (CLD)

Aliases & Classifications for Lipase Deficiency, Combined

MalaCards integrated aliases for Lipase Deficiency, Combined:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lipase Deficiency, Combined

Related Diseases for Lipase Deficiency, Combined

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

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

Symptoms & Phenotypes for Lipase Deficiency, Combined

Human phenotypes related to Lipase Deficiency, Combined:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Lipase Deficiency, Combined

Genetic Tests for Lipase Deficiency, Combined

Genetic tests related to Lipase Deficiency, Combined:

Anatomical Context for Lipase Deficiency, Combined

MalaCards organs/tissues related to Lipase Deficiency, Combined:

Publications for Lipase Deficiency, Combined

Articles related to Lipase Deficiency, Combined:

Genes for Lipase Deficiency, Combined

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

Variations for Lipase Deficiency, Combined

ClinVar genetic disease variations for Lipase Deficiency, Combined:

Expression for Lipase Deficiency, Combined

Pathways for Lipase Deficiency, Combined

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

GO Terms for Lipase Deficiency, Combined

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

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

Sources for Lipase Deficiency, Combined