Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased circulating cholesterol level
Very frequent (80-99%)HP:0003146
Increased triglycerides
Very frequent (80-99%)HP:0002155
Abdominal discomfort
Frequent (30-79%)HP:0002027
Accelerated plaque build-up in arteries
Frequent (30-79%)HP:0004943
Axonal neuropathy
Frequent (30-79%)HP:0003477
Chronic noninfectious lymphadenopathy
Frequent (30-79%)HP:0002730
Distal limb muscle weakness due to peripheral neuropathy
Frequent (30-79%)HP:0002460
Dystrophic nails
Frequent (30-79%)HP:0008404
Everted eyelid
Frequent (30-79%)HP:0000656
Hepatosplenomegaly
Frequent (30-79%)HP:0001433
Narrowing of coronary artery
Frequent (30-79%)HP:0005145
Orange discolored tonsils
Frequent (30-79%)HP:0030814
Premature coronary artery atherosclerosis
Frequent (30-79%)HP:0005181
Progressive polyneuropathy
Frequent (30-79%)HP:0007133
Xerosis
Frequent (30-79%)HP:0000958
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Carotid artery stenosis
Occasional (5-29%)HP:0100546
Fluid-filled cyst in spinal cord
Occasional (5-29%)HP:0003396
Impaired thermal sensitivity
Occasional (5-29%)HP:0010829
Left ventricular wall hypertrophy
Occasional (5-29%)HP:0001712
Low number of red blood cells or haemoglobin
Occasional (5-29%)HP:0001903
Low platelet count
Occasional (5-29%)HP:0001873
Scarring or clouding of the cornea of the eye
Occasional (5-29%)HP:0007957
Cicatricial ectropion
HP:0025608
Cloudy cornea
HP:0007759
Decreased circulating apolipoprotein A-I concentration
HP:0031799
Distal muscle atrophy, upper and lower limbs
HP:0003693
Elevated circulating apolipoprotein A-II concentration
HP:0031800
Enlarged liver
HP:0002240
Hypoalphalipoproteinemia
HP:0003233
Quick Facts
- SNOMED CT
- 15346004
- UMLS CUI
- C1704429
- Fully Specified Name
- Familial hypoalphalipoproteinemia (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.