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Start free with EleplanAbetalipoproteinemia
ORPHA:14Disease
Also called Bassen-Kornzweig disease
What it is
A severe, 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6Common30–79%
18- Abnormality of retinal pigmentation
- Anemia
- Areflexia
- Chronic diarrhea
- Color vision defect
- Decreased HDL cholesterol concentration
- Decreased LDL cholesterol concentration
- Failure to thrive
- Hyperbilirubinemia
- Hypoalbuminemia
- Hypocholesterolemia
- Hypotriglyceridemia
- Low levels of vitamin A
- Low levels of vitamin D
- Myalgia
- Nyctalopia
- Progressive visual loss
- Reticulocytosis
Sometimes5–29%
27- Ataxia
- Babinski sign
- Broad-based gait
- Decreased erythrocyte sedimentation rate
- Distal lower limb muscle weakness
- Dysarthria
- Dysmetria
- Elevated circulating hepatic transaminase concentration
and 19 more in this range
Rare1–4%
12- Abnormal bleeding
- Blindness
- Cardiomegaly
- Cirrhosis
- Congestive heart failure
- Corneal ulceration
- Hepatic fibrosis
- Hypothyroidism
and 4 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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