abetalipoproteinemia
Findings
No curated finding names abetalipoproteinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
Definition from the Mondo Disease Ontology (MONDO:0008692), read 2026-09-29. CC BY 4.0.
Features
64 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.
- Abnormal circulating apolipoprotein concentrationHPOHP:0025201
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very frequent (80% to 99% of cases)
- AcanthocytosisHPOHP:0001927
- Very frequent (80% to 99% of cases)
- Decreased circulating vitamin E concentrationHPOHP:0100513
- Very frequent (80% to 99% of cases)
- Fat malabsorptionHPOHP:0002630
- Very frequent (80% to 99% of cases)
- SteatorrheaHPOHP:0002570
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Chronic diarrheaHPOHP:0002028
- Frequent (30% to 79% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Frequent (30% to 79% of cases)
Show the remaining 52
- Decreased circulating LDL-C concentrationHPOHP:0003563
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- HyperbilirubinemiaHPOHP:0002904
- Frequent (30% to 79% of cases)
- HypoalbuminemiaHPOHP:0003073
- Frequent (30% to 79% of cases)
- HypocholesterolemiaHPOHP:0003146
- Frequent (30% to 79% of cases)
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.
- MTTPHGNC:7467
- Definitive · Ambry Genetics · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: abetalipoproteinemia
- Also called
- Bassen-Kornzweig diseasehomozygous familial hypobetalipoproteinemia