familial apolipoprotein C-II deficiency
MONDO:0008810Mondo
Findings
No curated finding names familial apolipoprotein C-II deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating apolipoprotein C-II concentrationHPOHP:0033983
- 11 of 11 reported patients
- HypercholesterolemiaHPOHP:0003124
- 2 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 12 of 12 reported patients
- Increased circulating chylomicron concentrationHPOHP:0012238
- 10 of 10 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 6 reported patients
- PancreatitisHPOHP:0001733
- 5 of 8 reported patients
- Lipemia retinalisHPOHP:0000660
- 1 of 2 reported patients
- Eruptive xanthomasHPOHP:0001013
- 1 of 10 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- APOC2HGNC:609
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Semidominant · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: familial apolipoprotein C-II deficiency
- Also called
- familial apoC-II deficiencyhyperlipoproteinemia, type IB