hyperlipoproteinemia, type 1D
Findings
No curated finding names hyperlipoproteinemia, type 1D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014412), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
13 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
- 1 of 1 reported patient
- Decreased circulating LDL-C concentrationHPOHP:0003563
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- Increased circulating chylomicron concentrationHPOHP:0012238
- 3 of 3 reported patients
- Lipemia retinalisHPO
Show the remaining 1
- HyperlipoproteinemiaHPOHP:0010980
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.
- GPIHBP1HGNC:24945
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: hyperlipoproteinemia, type 1D
- Also called
- familial hyperlipidemia caused by mutation in GPIHBP1GPIHBP1 familial hyperlipidemia