hypertriglyceridemia 2
MONDO:0859149Mondo
Findings
No curated finding names hypertriglyceridemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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 HDL-C concentrationHPOHP:0003233
- 2 of 2 reported patients
- HypercholesterolemiaHPOHP:0003124
- 2 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 2 of 2 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.
- CREB3L3HGNC:18855
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022