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familial lipase maturation factor 1 deficiency
Summary
- Synonym
-
- LPL and HL deficiency
- LPL and HTGL deficiency
- combined lipase deficiency
- familial LMF1 deficiency
- lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
- Definition
- A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.
- Super Class
- autosomal recessive disease familial chylomicronemia syndrome
External Links
- Disease Ontology
- DOID:0111422
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06858 | Lipoprotein lipase |
