LIPASE DEFICIENCY, COMBINED

General Information (adopted from Orphanet):

Synonyms, Signs: LPL AND HL DEFICIENCY
LIPOPROTEIN LIPASE DEFICIENCY WITH HEPATIC TRIGLYCERIDE LIPASE DEFICIENCY
LPL AND HTGL DEFICIENCY
Number of Symptoms 4
OrphanetNr:
OMIM Id: 246650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Hepatic triglyceride lipase (HTGL) deficiency 1 / 7739
4
(OMIM) Lipoprotein lipase (LPL) deficiency 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis, and obesity. Hyperlipoproteinemia type I (238600) and a disorder which closely simulates it, apolipoprotein C-II deficiency (207750), are characterized in part by hypertriglyceridemia; these disorders are ...
Molecular genetics OMIM In a patient with combined deficiency of lipoprotein lipase and hepatic lipase, concomitant hypertriglyceridemia, and associated disorders, Peterfy et al. (2007) detected homozygosity for a premature termination mutation in the LMF1 gene (611761.0001). The authors considered LMF1 to ...