Short answer · Medically reviewed summary · Last updated: 2026-05-08
Abetalipoproteinemia is a rare genetic disorder characterized by the inability to synthesize or secrete lipoproteins containing apolipoprotein B. It is most commonly referred to by its official name, though it is historically known as Bassen-Kornzweig syndrome, named after the physicians who first described the condition in 1950. What are the common synonyms for Abetalipoproteinemia? In medical literature and clinical records, you may encounter several names for Abetalipoproteinemia.
Abetalipoproteinemia synonyms
Other names for Abetalipoproteinemia: synonyms, acronyms and related terms used by doctors and patients.
Abetalipoproteinemia is a rare genetic disorder characterized by the inability to synthesize or secrete lipoproteins containing apolipoprotein B. It is most commonly referred to by its official name, though it is historically known as Bassen-Kornzweig syndrome, named after the physicians who first described the condition in 1950.
What are the common synonyms for Abetalipoproteinemia?
In medical literature and clinical records, you may encounter several names for Abetalipoproteinemia. These variations often reflect historical naming conventions or descriptive terminology regarding the underlying lipid metabolism deficiency. The most frequent synonyms include:
- Bassen-Kornzweig syndrome
- Acanthocytosis-neurologic disorder
- Microsomal triglyceride transfer protein (MTP) deficiency
- APOB deficiency
Why does this condition have multiple names?
The naming of Abetalipoproteinemia has evolved as our understanding of its molecular basis has improved. Early literature often used eponymous names like Bassen-Kornzweig syndrome to honor the clinical researchers who identified the link between acanthocytosis (spiked red blood cells) and neurological impairment. As clinical genetics advanced, the term Abetalipoproteinemia became the preferred standard because it accurately describes the total absence of beta-lipoproteins in the blood. Modern nomenclature now often favors the specific molecular defect, such as MTP deficiency, to provide greater diagnostic precision.
How is the condition classified in medical systems?
Standardized medical coding is essential for clear communication between specialists. Abetalipoproteinemia is cataloged under the following identifiers:
- OMIM (Online Mendelian Inheritance in Man): #200100
- Orphanet: ORPHA12
- ICD-10-CM: E78.6 (Deficiency of lipoproteins)
Currently, Abetalipoproteinemia is the name used by the global medical community, including the 19 members of the DiseaseMaps.org community, to ensure consistency in research and patient care.
Next steps
- Consult a metabolic specialist or a clinical geneticist to confirm your diagnosis using current, standardized terminology.
- Connect with the 19 individuals living with Abetalipoproteinemia on DiseaseMaps.org to share experiences and management strategies.
- Review your medical records to ensure that Abetalipoproteinemia (or Bassen-Kornzweig syndrome) is clearly documented for insurance and specialist referrals.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases (GARD) Information Center: Abetalipoproteinemia
- Orphanet: Rare Disease Database (ORPHA12)
- OMIM: Online Mendelian Inheritance in Man (Entry #200100)
