MCID: LPS005
MIFTS: 11

Lipase Deficiency Combined malady

Rare diseases category
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Summaries for Lipase Deficiency Combined

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Sources:
47OMIM, 33MalaCards
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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:47 246650

Aliases & Classifications for Lipase Deficiency Combined

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Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

lipase deficiency combined 43
lipase deficiency, combined 47 45
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency 43
deficiency of triacylglycerol lipase 62
lpl and htgl deficiency 43
lpl and hl deficiency 43


Related Diseases for Lipase Deficiency Combined

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Sources:
17GeneCards, 18GeneDecks
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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:
47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center 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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet