HEPATIC LIPASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: LIPC DEFICIENCY
HL DEFICIENCY
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614025
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:0001013) Eruptive xanthomas 3 / 7739
2
 (HPO:0001681) Angina pectoris 22 / 7739
3
 (OMIM) Hepatic lipase deficiency 1 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (OMIM) Palmar xanthomas 1 / 7739
6
 (OMIM) Abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Deficiency of hepatic lipase (HL) is characterized by abnormally triglyceride-rich low and high density lipoproteins as well as beta-migrating very low density lipoproteins. Two brothers reported by Breckenridge et al. (1982) had less than 2% of normal HL ...
Molecular genetics OMIM In 6 individuals with complete HL deficiency (614025) from 2 unrelated families, Hegele et al. (1991) identified a heterozygous mutation in the LIPC gene (T383M; 151670.0001) that was not found in 50 controls. Hegele et al. (1991) identified ...