Apolipoprotein A-i Deficiency
Description
Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Clinical Features
Phenotypes and symptoms related to Apolipoprotein A-i Deficiency
- Anemia
- Splenomegaly
- Abnormality of the liver
- Corneal opacity
- Lymphadenopathy
- EMG abnormality
- Hemiplegia/hemiparesis
- Blurred vision
- Xanthomatosis
- Decreased HDL cholesterol concentration
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Apolipoprotein A-i Deficiency Is also known as familial apoa-i deficiency, apoa-i deficiency, familial hypoalphalipoproteinemia.
Researches and researchers
Doctors, researchs, and experts related to Apolipoprotein A-i Deficiency extracted from public data.
Apolipoprotein A-i Deficiency Experts map
Current Researchs and researchers
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PARIS — Pr Jean-Philippe GIRARDET
Investigator of research project - Contact person of registry
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Institution/s:
— CHU Paris Est - Hôpital d'Enfants Armand-Trousseau -
Research area/topic::
'Dyslipidemia genetics: phenotype-genotype relationships; vascular consequences in children of hereditary dyslipidemia'
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Institution/s:
Sources and references
You can check the following sources for additional information.
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