MCID: LPS005
MIFTS: 11

Lipase Deficiency Combined malady

Rare diseases category

Summaries for Lipase Deficiency Combined

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Sources:
48OMIM, 34MalaCards
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MalaCards: Lipase Deficiency Combined, also known as lipase deficiency, combined, is related to pancreatic lipase deficiency. An important gene associated with Lipase Deficiency Combined is LMF1 (lipase maturation factor 1).

Description from OMIM:48 246650

Aliases & Classifications for Lipase Deficiency Combined

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Sources:
44NIH Rare Diseases, 48OMIM, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

lipase deficiency combined 44
lipase deficiency, combined 48 46
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency 44
deficiency of triacylglycerol lipase 63
lpl and htgl deficiency 44
lpl and hl deficiency 44


Related Diseases for Lipase Deficiency Combined

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Lipase Deficiency Combined via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pancreatic lipase deficiency10.1

Symptoms for Lipase Deficiency Combined

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

246650

Clinical features from OMIM:

246650

Drugs & Therapeutics for Lipase Deficiency Combined

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Lipase Deficiency Combined

Drug clinical trials:

Search ClinicalTrials for Lipase Deficiency Combined

Search NIH Clinical Center for Lipase Deficiency Combined

Search CenterWatch for Lipase Deficiency Combined

Genetic Tests for Lipase Deficiency Combined

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Anatomical Context for Lipase Deficiency Combined

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Animal Models for Lipase Deficiency Combined or affiliated genes

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Publications for Lipase Deficiency Combined

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Variations for Lipase Deficiency Combined

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lipase Deficiency Combined:

1
id Gene Name Type Significance SNP ID Assembly Location
1LMF1NM_022773.2(LMF1): c.1317C> G (p.Tyr439Ter)single nucleotide variantPathogenicrs121909397GRCh37Chr 16, 919982: 919982

Expression for genes affiliated with Lipase Deficiency Combined

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lipase Deficiency Combined

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

Pathways for genes affiliated with Lipase Deficiency Combined

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Compounds for genes affiliated with Lipase Deficiency Combined

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GO Terms for genes affiliated with Lipase Deficiency Combined

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Products for genes affiliated with Lipase Deficiency Combined

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipase Deficiency Combined

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet