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  2. Genes
  3. ABCA1

ABCA1 gene related symptoms and diseases

All the information presented here about the ABCA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ABCA1 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Corneal opacity Very Common - Between 80% and 100% cases
Peripheral axonal neuropathy Uncommon - Between 30% and 50% cases
Impaired thermal sensitivity Uncommon - Between 30% and 50% cases
Carotid artery stenosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABCA1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Accelerated atherosclerosis
  • Coronary artery stenosis
  • Progressive peripheral neuropathy
  • Chronic noninfectious lymphadenopathy
  • Hypocholesterolemia
  • Facial diplegia
  • Syringomyelia
  • Ectropion

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ABCA1 gene

Here you will find a list of rare diseases related to the ABCA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


APOLIPOPROTEIN A-I DEFICIENCY

Alternate names

APOLIPOPROTEIN A-I DEFICIENCY Is also known as familial apoa-i deficiency, apoa-i deficiency, familial hypoalphalipoproteinemia

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).

Most common symptoms of APOLIPOPROTEIN A-I DEFICIENCY

  • Anemia
  • Splenomegaly
  • Abnormality of the liver
  • Corneal opacity
  • Lymphadenopathy


More info about APOLIPOPROTEIN A-I DEFICIENCY

SOURCES: ORPHANET

TANGIER DISEASE

Alternate names

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1, analphalipoproteinemia, atp-binding cassette transporter a1 deficiency

Description

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

Most common symptoms of TANGIER DISEASE

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


More info about TANGIER DISEASE

SOURCES: ORPHANET



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