Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating apolipoprotein concentration
Very frequent (80-99%)HP:0025201
Abnormality of the nervous system
Very frequent (80-99%)HP:0000707
Acanthocytosis
Very frequent (80-99%)HP:0001927
Fat in feces
Very frequent (80-99%)HP:0002570
Fat malabsorption
Very frequent (80-99%)HP:0002630
Vitamin E deficiency
Very frequent (80-99%)HP:0100513
Abnormality of RPE
Frequent (30-79%)HP:0007703
Absent deep tendon reflexes
Frequent (30-79%)HP:0001284
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Color vision defect, severe
Frequent (30-79%)HP:0000551
Decreased circulating cholesterol level
Frequent (30-79%)HP:0003146
Decreased LDL cholesterol concentration
Frequent (30-79%)HP:0003563
Decreased plasma Tg levels
Frequent (30-79%)HP:0012153
Decreased visual acuity, progressive
Frequent (30-79%)HP:0000529
Deficient in vitamin D
Frequent (30-79%)HP:0100512
Difficulties with night vision
Frequent (30-79%)HP:0000662
High blood bilirubin levels
Frequent (30-79%)HP:0002904
Hypoalbuminaemia
Frequent (30-79%)HP:0003073
Hypoalphalipoproteinemia
Frequent (30-79%)HP:0003233
Low levels of vitamin A
Frequent (30-79%)HP:0004905
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Muscle pain
Frequent (30-79%)HP:0003326
Reticulocytosis
Frequent (30-79%)HP:0001923
Undergrowth
Frequent (30-79%)HP:0001508
Abnormal liver function tests
Occasional (5-29%)HP:0002910
Ataxia
Occasional (5-29%)HP:0001251
Blind spot
Occasional (5-29%)HP:0000575
Decreased erythrocyte sedimentation rate
Occasional (5-29%)HP:0025022
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Distal muscle weakness in lower limbs
Occasional (5-29%)HP:0009053
Quick Facts
- SNOMED CT
- 190787008
- UMLS CUI
- C0000744
- Fully Specified Name
- Abetalipoproteinemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.