CLD
MCID: LPS020
MIFTS: 33

Lipase Deficiency, Combined (CLD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

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:



External Ids:

OMIM 58 246650
KEGG 38 H01101
Orphanet 60 ORPHA535453
MedGen 43 C1855498
SNOMED-CT via HPO 70 258211005
UMLS 74 C1855498

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

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

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

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 30 LMF1

Anatomical Context for Lipase Deficiency, Combined

MalaCards organs/tissues related to Lipase Deficiency, Combined:

42
Liver, Heart

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 )
2009
2
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. ( 17994020 )
2007
3
Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. ( 11714855 )
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 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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