- Bassen Kornzweig syndrome
- Microsomal triglyceride transfer protein deficiency disease
- Microsomal triglyceride transfer protein deficiency
- Abetalipoproteinemia neuropathy
- failure to thrive in infancy
- digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools)
- abnormal, star-shaped red blood cells (acanthocytosis)
- nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors
- eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life
The Human Phenotype Ontology provides the following list of signs and symptoms for Abetalipoproteinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia.
- Vibhuti N Singh. Low LDL Cholesterol (Hypobetalipoproteinemia). Medscape Reference. December 16, 2014; http://emedicine.medscape.com/article/121975-overview.