CLD
MCID: LPS020
MIFTS: 42

Lipase Deficiency, Combined (CLD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Lipase Deficiency, Combined

MalaCards integrated aliases for Lipase Deficiency, Combined:

Name: Lipase Deficiency, Combined 57 28 12 53 5
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 57 11 19
Familial Lipase Maturation Factor 1 Deficiency 11 58 14
Lipase Deficiency Combined 19 38 71
Lpl and Htgl Deficiency 57 11 19
Lpl and Hl Deficiency 57 11 19
Combined Lipase Deficiency 11 73
Familial Lmf1 Deficiency 11 58
Cld 73

Characteristics:


Inheritance:

Lipase Deficiency, Combined: Autosomal recessive 57
Familial Lipase Maturation Factor 1 Deficiency: Autosomal recessive 58

Prevelance:

Familial Lipase Maturation Factor 1 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Familial Lipase Maturation Factor 1 Deficiency: Adult 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0111422
OMIM® 57 246650
Orphanet 58 ORPHA535453
MedGen 40 C1855498
SNOMED-CT via HPO 69 44054006 71325002 75694006
UMLS 71 C1855498

Summaries for Lipase Deficiency, Combined

Disease Ontology: 11 A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has material basis in homozygous mutation in LMF1 on chromosome 16p13.3.

MalaCards based summary: Lipase Deficiency, Combined, also known as lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency, is related to hypolipoproteinemia and hypertriglyceridemia 1. An important gene associated with Lipase Deficiency, Combined is LMF1 (Lipase Maturation Factor 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Plasma lipoprotein assembly, remodeling, and clearance. Affiliated tissues include liver, endothelial and lung, and related phenotypes are type ii diabetes mellitus and hypertriglyceridemia

UniProtKB/Swiss-Prot: 73 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).

GARD: 19 A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.

More information from OMIM: 246650

Related Diseases for Lipase Deficiency, Combined

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 hypolipoproteinemia 30.0 LPL LIPG APOA5
2 hypertriglyceridemia 1 29.8 LPL LIPC APOA5
3 hyperlipoproteinemia, type i 29.5 LPL LMF1 LIPG LIPC GPIHBP1 APOA5
4 familial hyperlipidemia 29.2 LPL LMF1 LIPC GPIHBP1 APOA5
5 familial lipoprotein lipase deficiency 29.1 LPL LMF1 LIPG LIPC GPIHBP1 APOA5
6 lactase deficiency, congenital 11.1
7 congenital chloride diarrhea 11.0
8 diarrhea 1, secretory chloride, congenital 11.0
9 liver disease 10.2
10 lung disease 10.2
11 hypoalphalipoproteinemia 10.2 LPL LIPC
12 hepatic encephalopathy 10.2
13 biliary atresia, extrahepatic 10.1
14 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1
15 crigler-najjar syndrome, type i 10.1
16 wilson disease 10.1
17 portal hypertension 10.1
18 portal vein thrombosis 10.1
19 hepatorenal syndrome 10.1
20 biliary atresia 10.1
21 peritonitis 10.1
22 hepatopulmonary syndrome 10.1
23 cholangitis 10.1
24 encephalopathy 10.1
25 pulmonary arterial hypertension associated with portal hypertension 10.1
26 hypobetalipoproteinemia, familial, 2 10.1 LPL LIPG
27 aortic atherosclerosis 10.1 LPL LIPG
28 ceroid lipofuscinosis, neuronal, 5 10.0
29 diarrhea 10.0
30 alcoholic liver cirrhosis 10.0
31 familial apolipoprotein c-ii deficiency 10.0 LPL LMF1 GPIHBP1
32 hyperalphalipoproteinemia 1 9.9 LPL LIPC
33 atherosclerosis susceptibility 9.9 LPL LIPG LIPC
34 short-rib thoracic dysplasia 9 with or without polydactyly 9.9 TM2D3 ASB7
35 apolipoprotein c-iii deficiency 9.9 LPL APOA5
36 alcohol dependence 9.9
37 rhabdomyosarcoma 2 9.9
38 pendred syndrome 9.9
39 hepatitis c virus 9.9
40 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 9.9
41 viral hepatitis 9.9
42 gastrointestinal system disease 9.9
43 learning disability 9.9
44 fatty liver disease 9.9
45 hypercholesterolemia, familial, 1 9.8 LPL LIPC
46 hyperlipoproteinemia, type v 9.8 LPL APOA5
47 heinz body anemias 9.7 TM2D3 NME3 ASB7
48 hyperlipoproteinemia, type iii 9.7 LPL LIPC APOA5
49 coronary heart disease 1 9.7 LPL LIPC APOA5
50 pancreatitis 9.6 LPL LMF1 APOA5

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



Diseases related to Lipase Deficiency, Combined

Symptoms & Phenotypes for Lipase Deficiency, Combined

Human phenotypes related to Lipase Deficiency, Combined:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 30 Very rare (1%) HP:0005978
2 hypertriglyceridemia 30 Very rare (1%) HP:0002155
3 lipodystrophy 30 Very rare (1%) HP:0009125
4 pancreatitis 30 Very rare (1%) HP:0001733
5 tuberous xanthoma 30 Very rare (1%) HP:0031290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased free cholesterol GR00340-A-2 8.8 APOA5 LIPG LPL

MGI Mouse Phenotypes related to Lipase Deficiency, Combined:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.28 APOA5 ASB7 GPIHBP1 LIPC LIPG LMF1

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

Organs/tissues related to Lipase Deficiency, Combined:

MalaCards : Liver, Endothelial, Lung, Heart

Publications for Lipase Deficiency, Combined

Articles related to Lipase Deficiency, Combined:

(show all 25)
# Title Authors PMID Year
1
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. 53 62 57 5
17994020 2007
2
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia. 57 5
19820022 2009
3
Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion. 62 57
2211673 1990
4
Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse. 62 57
6857276 1983
5
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. 57
22135386 2012
6
Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family. 57
1968704 1990
7
Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. 53 62
11714855 2001
8
Molecular cloning of mouse hepatic triacylglycerol lipase: gene expression in combined lipase-deficient (cld/cld) mice. 53 62
2025643 1991
9
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 62
27573733 2016
10
Embryonic viability, lipase deficiency, hypertriglyceridemia and neonatal lethality in a novel LMF1-deficient mouse model. 62
25302068 2014
11
Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. 62
22063272 2012
12
Lipase maturation factor 1 is required for endothelial lipase activity. 62
21447484 2011
13
Lipase maturation factor 1: structure and role in lipase folding and assembly. 62
20224398 2010
14
A quantitative assay measuring the function of lipase maturation factor 1. 62
19471043 2009
15
The cld mutation: narrowing the critical chromosomal region and selecting candidate genes. 62
17019649 2006
16
Adrenal and liver in normal and cld/cld mice synthesize and secrete hepatic lipase, but the lipase is inactive in cld/cld mice. 62
10681405 2000
17
cld and lec23 are disparate mutations that affect maturation of lipoprotein lipase in the endoplasmic reticulum. 62
10553008 1999
18
Combined lipase deficiency (cld/cld) in mice affects differently post-translational processing of lipoprotein lipase, hepatic lipase and pancreatic lipase. 62
9720257 1998
19
Naturally occurring mutations in mice affecting lipid transport and metabolism. 62
8827513 1996
20
Lipoprotein lipase mRNA in neonatal and adult mouse tissues: comparison of normal and combined lipase deficiency (cld) mice assessed by in situ hybridization. 62
2079607 1990
21
Synthesis of inactive nonsecretable high mannose-type lipoprotein lipase by cultured brown adipocytes of combined lipase-deficient cld/cld mice. 62
2104849 1990
22
Expression of lipoprotein lipase gene in combined lipase deficiency. 62
2474325 1989
23
Effect of the combined lipase deficiency mutation (cld/cld) on ultrastructure of tissues in mice. Diaphragm, heart, brown adipose tissue, lung, and liver. 62
3747449 1986
24
Effect of combined lipase deficiency (cld/cld) on hepatic and lipoprotein lipase activities in liver and plasma of newborn mice. 62
3955063 1986
25
Combined lipase deficiency (cld/cld) in mice. Demonstration that an inactive form of lipoprotein lipase is synthesized. 62
3972797 1985

Variations for Lipase Deficiency, Combined

ClinVar genetic disease variations for Lipase Deficiency, Combined:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMF1 NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter) SNV Pathogenic
792 rs121909397 GRCh37: 16:919982-919982
GRCh38: 16:869982-869982
2 LMF1 NM_022773.4(LMF1):c.1079-2A>C SNV Pathogenic
1334397 GRCh37: 16:920884-920884
GRCh38: 16:870884-870884
3 LMF1 NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) SNV Pathogenic
143993 rs587777626 GRCh37: 16:919908-919908
GRCh38: 16:869908-869908
4 LMF1 NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) SNV Pathogenic
1675593 GRCh37: 16:920035-920035
GRCh38: 16:870035-870035
5 LMF1 NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) SNV Pathogenic
1341517 GRCh37: 16:929572-929572
GRCh38: 16:879572-879572
6 LMF1 NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) SNV Likely Pathogenic
1324668 GRCh37: 16:1004477-1004477
GRCh38: 16:954477-954477
7 LMF1 NM_022773.4(LMF1):c.359C>G (p.Ser120Ter) SNV Likely Pathogenic
1074820 GRCh37: 16:1004501-1004501
GRCh38: 16:954501-954501
8 LMF1 NM_022773.4(LMF1):c.1039C>G (p.Gln347Glu) SNV Uncertain Significance
1028777 rs2069779467 GRCh37: 16:921200-921200
GRCh38: 16:871200-871200
9 LMF1 NM_022773.4(LMF1):c.1138G>A (p.Val380Met) SNV Uncertain Significance
1028778 rs201734228 GRCh37: 16:920823-920823
GRCh38: 16:870823-870823
10 LMF1 NM_022773.4(LMF1):c.1292C>A (p.Ala431Asp) SNV Benign
522335 rs115416993 GRCh37: 16:920007-920007
GRCh38: 16:870007-870007

Expression for Lipase Deficiency, Combined

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

Pathways for Lipase Deficiency, Combined

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SEL1L LPL LMF1 LIPG LIPC GPIHBP1
2
Show member pathways
11.91 LPL LMF1 LIPG LIPC GPIHBP1 APOA5
3
Show member pathways
11.31 LPL LIPC APOA5
4
Show member pathways
11.08 LPL LIPC
5
Show member pathways
10.95 SEL1L LPL LMF1 LIPC GPIHBP1 APOA5
6
Show member pathways
10.92 LPL LIPC

GO Terms for Lipase Deficiency, Combined

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

# Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle GO:0034364 9.56 LIPC APOA5
2 catalytic complex GO:1902494 9.46 LPL GPIHBP1
3 very-low-density lipoprotein particle GO:0034361 9.26 LPL APOA5
4 chylomicron GO:0042627 8.92 LPL APOA5

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 9.91 LPL LIPG LIPC
2 triglyceride metabolic process GO:0006641 9.86 APOA5 LMF1 LPL SEL1L
3 fatty acid biosynthetic process GO:0006633 9.85 LPL LIPG LIPC
4 very-low-density lipoprotein particle remodeling GO:0034372 9.8 LPL LIPC APOA5
5 reverse cholesterol transport GO:0043691 9.78 LIPG LIPC
6 high-density lipoprotein particle remodeling GO:0034375 9.76 LIPG LIPC
7 triglyceride homeostasis GO:0070328 9.76 LPL LIPC GPIHBP1 APOA5
8 positive regulation of lipoprotein lipase activity GO:0051006 9.71 GPIHBP1 APOA5
9 cholesterol homeostasis GO:0042632 9.65 LPL LIPG LIPC GPIHBP1 APOA5
10 triglyceride catabolic process GO:0019433 9.32 LPL LIPG LIPC GPIHBP1 APOA5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.1 LPL LIPG LIPC APOA5
2 phospholipase activity GO:0004620 9.91 LPL LIPG LIPC
3 triglyceride lipase activity GO:0004806 9.88 LPL LIPG LIPC
4 lipase activity GO:0016298 9.85 LIPC LIPG LPL
5 lipoprotein particle binding GO:0071813 9.83 LPL GPIHBP1
6 lipase binding GO:0035473 9.81 GPIHBP1 APOA5
7 apolipoprotein binding GO:0034185 9.8 LPL LIPC CANX
8 lipoprotein lipase activator activity GO:0060230 9.78 GPIHBP1 APOA5
9 phospholipase A1 activity GO:0008970 9.73 LPL LIPG LIPC
10 carboxylic ester hydrolase activity GO:0052689 9.63 LPL LIPG LIPC
11 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.63 LPL LIPG LIPC
12 lipoprotein lipase activity GO:0004465 9.43 LPL LIPG LIPC
13 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.1 LPL LIPG LIPC

Sources for Lipase Deficiency, Combined

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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