Lecithin cholesterol acyltransferase deficiency

disorder

SNOMED 238091006CUI C5779633

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased circulating apolipoprotein A-I concentration

Very frequent (80-99%)HP:0031799

Hypoalphalipoproteinemia

Very frequent (80-99%)HP:0003233

Increased triglycerides

Very frequent (80-99%)HP:0002155

Decreased glomerular filtration rate

Frequent (30-79%)HP:0012213

Hemolytic anaemia

Frequent (30-79%)HP:0001878

Plaque build-up in arteries

Frequent (30-79%)HP:0002621

Proteinuria

Frequent (30-79%)HP:0000093

Renal insufficiency

Frequent (30-79%)HP:0000083

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Acute kidney injury

Occasional (5-29%)HP:0001919

End-stage renal disease

Occasional (5-29%)HP:0003774

Impaired vision

Occasional (5-29%)HP:0000505

Premature coronary artery atherosclerosis

Occasional (5-29%)HP:0005181

Related Conditions

Fish-eye disease(child)

Familial lecithin cholesterol acyltransferase deficiency(child)

Hypoalphalipoproteinaemia(parent)

Corneal opacity(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 238091006
UMLS CUI: C5779633
Fully Specified Name: Lecithin cholesterol acyltransferase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.