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Apolipoprotein A-i Deficiency

Table of contents:

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).

Genes related to Apolipoprotein A-i Deficiency

  • APOA1
  • ABCA1

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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

  • PARIS — Pr Jean-Philippe GIRARDET

    Investigator of research project - Contact person of registry

    • 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'


Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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