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: NCBIGENE,ORPHANET,HGNC.

Top 5 symptoms associated to ABCA1 gene



Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Corneal opacity Very Common - Between 80% and 100% cases
Dry skin 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

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

Not very common - Between 30% and 50% cases

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

And 17 more phenotypes.

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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 apoa-i deficiency; familial 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
  • Corneal opacity
  • Abnormality of the liver
  • Lymphadenopathy


More info about APOLIPOPROTEIN A-I DEFICIENCY

SOURCES: ORPHANET

TANGIER DISEASE

Alternate names

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

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

Potential gene panels for ABCA1 gene

Low HDL Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Low HDL Panel that also includes the following genes: SCARB1 APOA1 ABCG1 LCAT ABCA1

More info about this panel

Platelet Disorders Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Platelet Disorders that also includes the following genes: RUNX1 DTNBP1 HPS1 HPS6 HPS5 HPS4 HPS3 AP3B1 ANKRD26 DPAGT1

More info about this panel

ABCA1 Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the ABCA1 gene.

More info about this panel

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: CYP27A1 LDLR LIPA MTTP APOE ABCG5 ABCG8 CETP SCARB1 APOA1

More info about this panel

ABCA1. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the ABCA1 gene.

More info about this panel

Tangier disease (sequence analysis of ABCA1 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABCA1 gene.

More info about this panel

Hypercholesterolemia, familial (NGS panel for 15 genes) Panel

By CGC Genetics in Portugal. Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: APTX LDLR LIPA GHR ABCG5 ABCG8 PCSK9 LDLRAP1 APOB ABCA1

More info about this panel

Familial High Density Lipoprotein Deficiency Panel

By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway. Familial High Density Lipoprotein Deficiency that also includes the following genes: APOA1 ABCA1

More info about this panel

Neuropathy Panel

By MGZ Medical Genetics Center in Germany. Neuropathy that also includes the following genes: TTR ABHD12 ATP7A C12orf65 GAA FBLN5 OPTN AMACR POLG GARS

More info about this panel

Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center in Germany. Neurogenetic Disorders - panels that also includes the following genes: MTHFR TTR UBE3A AARS2 ABHD12 ACAD9 ACADM ACADS AGL ACADVL

More info about this panel

Tangier disease Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA1 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

More info about this panel

Hypercholesterolemia Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABCA1 gene.

More info about this panel

ABCA1 Tangier disease Panel

By GGA - Galil Genetic Analysis in Israel.

This panel specifically test the ABCA1 gene.

More info about this panel

ABCA1 Panel

By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel.

This panel specifically test the ABCA1 gene.

More info about this panel

Tangier Disease Panel

By Asper Biogene Asper Biogene LLC in Estonia.

This panel specifically test the ABCA1 gene.

More info about this panel

Cardiovascular Diseases_General Panel Panel

By Health in Code in Spain. Cardiovascular Diseases_General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATP7A ATPAF2 B4GALT7

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

By Health in Code in Spain. Dyslipidemias / Early atherosclerosis that also includes the following genes: HNF1A NEUROD1 PPARG HNF1B CPT2 WFS1 PCDH15 GCK GPD1 CAVIN1

More info about this panel

Hypolipidemias Panel

By Health in Code in Spain. Hypolipidemias that also includes the following genes: MTTP APOA1 PCSK9 APOB ANGPTL3 ABCG1 LCAT ABCA1 APOC3 MYLIP

More info about this panel

ABCA1 Gene Sequencing Panel

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

This panel specifically test the ABCA1 gene.

More info about this panel

Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel Panel

By Integrated Genetics Westborough Integrated Genetics in United States. Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel that also includes the following genes: LDLR PCSK9 APOB ABCA1 APOA2 APOC3 PON2

More info about this panel

ABCA1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCA1 gene.

More info about this panel

Hyperlipidemia Panel Panel

By Blueprint Genetics in Finland. Hyperlipidemia Panel that also includes the following genes: ALMS1 LDLR LIPA APOE ABCG5 ABCG8 APOA1 PCSK9 LDLRAP1 APOB

More info about this panel

Tangier disease Panel

By Bioarray in Spain.

This panel specifically test the ABCA1 gene.

More info about this panel

Tangier Disease , Sequencing ABCA1 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABCA1 gene.

More info about this panel

Tempus xO assay Panel

By Tempus Labs, Inc. in United States. Tempus xO assay that also includes the following genes: BRCA1 BRCA2 VHL APC EPCAM MSH2 PMS2 MSH6 MLH1 MUTYH

More info about this panel


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