MCID: LPS005
MIFTS: 11

Lipase Deficiency Combined malady

Rare diseases category

Summaries for Lipase Deficiency Combined

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MalaCards based summary: Lipase Deficiency Combined, also known as lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency, is related to pancreatic lipase deficiency, and has symptoms including autosomal recessive inheritanceand abnormality of metabolism/homeostasis. An important gene associated with Lipase Deficiency Combined is LMF1 (lipase maturation factor 1).

Description from OMIM:46 246650

Aliases & Classifications for Lipase Deficiency Combined

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 61UMLS
See all sources

Lipase Deficiency Combined, Aliases & Descriptions:

Name: Lipase Deficiency Combined 42
Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency 42 61
Lipase Deficiency, Combined 46 44
 
Deficiency of Triacylglycerol Lipase 61
Lpl and Htgl Deficiency 42
Lpl and Hl Deficiency 42


Classifications:

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


Related Diseases for Lipase Deficiency Combined

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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 deficiency10.2

Symptoms for Lipase Deficiency Combined

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Symptoms by clinical synopsis from OMIM:

246650

Clinical features from OMIM:

246650

HPO human phenotypes related to Lipase Deficiency Combined:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Lipase Deficiency Combined

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Drug clinical trials:

Search ClinicalTrials for Lipase Deficiency Combined

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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Clinvar genetic disease variations for Lipase Deficiency Combined:

7
id Gene Name Type Significance SNP ID Assembly Location
1LMF1NM_022773.2(LMF1): c.1391G> A (p.Trp464Ter)single nucleotide variantPathogenicGRCh38Chr 16, 869908: 869908
2LMF1NM_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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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
  • Proteins
  • Kits and Assays

Sources for Lipase Deficiency Combined

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet