Familial hypobetalipoproteinemia

disorder

SNOMED 60193003CUI C1862596

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.

Acanthocytosis

Always present (100%)HP:0001927

Alanine aminotransferase increased

Always present (100%)HP:0031964

Decreased circulating cholesterol level

Always present (100%)HP:0003146

Decreased HDL cholesterol concentration

Always present (100%)HP:0003233

Decreased LDL cholesterol concentration

Always present (100%)HP:0003563

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Fat in feces

Always present (100%)HP:0002570

Low levels of vitamin A

Always present (100%)HP:0004905

Vitamin E deficiency

Always present (100%)HP:0100513

Ataxia

HP:0001251

Increased triglycerides

Excluded (<1%)HP:0002155

Reduced tendon reflexes

HP:0001315

Retinal degeneration

HP:0000546

Rod-cone dystrophy

Excluded (<1%)HP:0000510

Related Conditions

Familial hypobetalipoproteinemia - homozygous form(child)

Familial hypobetalipoproteinaemia - heterozygous form(child)

Chylomicron retention disease(child)

Lipoprotein deficiency disorder(parent)

Familial lipoprotein deficiency(parent)

Quick Facts

SNOMED CT: 60193003
UMLS CUI: C1862596
Fully Specified Name: Familial hypobetalipoproteinemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.