APOLIPOPROTEIN C-III DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: APOLIPOPROTEIN C-III DEFICIENCY
HALP2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614028
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012184) Hyperalphalipoproteinemia 19074352 IBIS 3 / 7739
2
(HPO:0012153) Hypotriglyceridemia 19074352 IBIS 4 / 7739
3
(HPO:0003563) Hypobetalipoproteinemia 19074352 IBIS 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a family with hyperalphalipoproteinemia, von Eckardstein et al. (1991) identified a heterozygous carrier of an apolipoprotein C-III variant (107720.0002) by the presence of additional bands after isoelectric focusing (IEF) of very low density lipoprotein (VLDL). Two variant ...