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.
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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