familial hypobetalipoproteinemia 1
Findings
No curated finding names familial hypobetalipoproteinemia 1 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 APOB gene.
Definition from the Mondo Disease Ontology (MONDO:0014252), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- AcanthocytosisHPOHP:0001927
- 3 of 3 reported patients
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 3 of 3 reported patients
- Decreased circulating LDL-C concentrationHPOHP:0003563
- 4 of 4 reported patients
- Decreased circulating vitamin E concentrationHPOHP:0100513
- 3 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 3 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.
- APOBHGNC:603
- Definitive · ClinGen · Semidominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: familial hypobetalipoproteinemia 1
- Also called
- APOB hypobetalipoproteinemiafamilial hypobetalipoproteinemia type 1FHBL1hypobetalipoproteinemia caused by mutation in APOBhypobetalipoproteinemia, familial, type 1