CLD
MCID: LPS020
MIFTS: 32
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Lipase Deficiency, Combined (CLD)
Categories:
Genetic diseases, Rare diseases
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MalaCards integrated aliases for Lipase Deficiency, Combined:
Characteristics:HPO:32Classifications: |
UniProtKB/Swiss-Prot
:
75
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 diarrhea 1, secretory chloride, congenital and congenital chloride diarrhea. 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
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Diseases related to Lipase Deficiency, Combined via text searches within MalaCards or GeneCards Suite gene sharing:(show all 18)
Graphical network of the top 20 diseases related to Lipase Deficiency, Combined:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:246650Human phenotypes related to Lipase Deficiency, Combined:32
GenomeRNAi Phenotypes related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Lipase Deficiency, Combined:41
Liver,
Heart
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Articles related to Lipase Deficiency, Combined:
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ClinVar genetic disease variations for Lipase Deficiency, Combined:6
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Search
GEO
for disease gene expression data for Lipase Deficiency, Combined.
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Pathways related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:
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Biological processes related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:
Molecular functions related to Lipase Deficiency, Combined according to GeneCards Suite gene sharing:
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