familial hypobetalipoproteinemia 2
Findings
No curated finding names familial hypobetalipoproteinemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011505), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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 LDL-C concentrationHPOHP:0003563
- HypotriglyceridemiaHPOHP:0012153
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.
- ANGPTL3HGNC:491
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
5 names
Resolves to: familial hypobetalipoproteinemia 2
- Also called
- ANGPTL3 hypobetalipoproteinemiafamilial hypobetalipoproteinemia type 2FHBL2hypobetalipoproteinemia caused by mutation in ANGPTL3hypobetalipoproteinemia, familial, type 2