ABCG8 gene related symptoms and diseases
All the information presented here about the ABCG8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCG8 gene
Symptoms // Phenotype | % Cases |
---|---|
Premature coronary artery atherosclerosis | Common - Between 50% and 80% cases |
Xanthomatosis | Common - Between 50% and 80% cases |
Coronary artery atherosclerosis | Common - Between 50% and 80% cases |
Hypercholesterolemia | Common - Between 50% and 80% cases |
Arthralgia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ABCG8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Left ventricular failure
- Precocious atherosclerosis
- Angina pectoris
- Peripheral arterial stenosis
- Short stature
- Optic neuropathy
- Heart murmur
- Hyperlipidemia
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCG8 gene
Here you will find a list of rare diseases related to the ABCG8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SITOSTEROLEMIA
Alternate names
SITOSTEROLEMIA Is also known as stsl, phytosterolemia
Description
Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
Most common symptoms of SITOSTEROLEMIA
- Short stature
- Pain
- Anemia
- Splenomegaly
- Abdominal pain
More info about SITOSTEROLEMIA
GALLBLADDER DISEASE 4; GBD4
Most common symptoms of GALLBLADDER DISEASE 4; GBD4
- Cholelithiasis
More info about GALLBLADDER DISEASE 4; GBD4
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Alternate names
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh
Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
- Hypertension
- Dyspnea
- Arthralgia
- Hepatic steatosis
- Sudden cardiac death
More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
SOURCES: ORPHANET
Search interest in ABCG8
Potential gene panels for ABCG8 gene
Sitosterolemia, ABCG8, Sequencing Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the ABCG8 gene.
More info about this panel
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1
More info about this panel
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel
ABCG8 Sequencing Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ABCG8 gene.
More info about this panel
ABCG8 Deletion/duplication analysis Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ABCG8 gene.
More info about this panel
Hemolytic Anemia Deletion/Duplication Panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel
Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42
More info about this panel
Liver Diseases Deletion/duplication panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel
Liver Diseases Panel by next-generation sequencing (NGS) Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel
Thrombocytopenia Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5
More info about this panel
Thrombocytopenia Deletion/Duplication Panel Panel

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13
More info about this panel
ABCG8 Panel

By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ABCG8 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 Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9
More info about this panel
ABCG8. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCG8 gene.
More info about this panel
Hypercholesterolemia, familial (NGS panel for 15 genes) Panel

By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR
More info about this panel
Sitosterolemia Panel

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Sitosterolemia that also includes the following genes: ABCG5 ABCG8
More info about this panel
Bleeding Disorders Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panel
Sitosterolemia Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Sitosterolemia Sequencing Panel with CNV Detection that also includes the following genes: ABCG5 ABCG8
More info about this panel
Sitosterolemia via ABCG8 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the ABCG8 gene.
More info about this panel
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS
More info about this panel
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel

By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panel
Cardiovascular Diseases_General Panel Panel

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel
Dyslipidemias / Early atherosclerosis Panel

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel
Familialhypercholesterolemia Extended Panel Panel

By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2
More info about this panel
Familial Hypercholesterolaemia Genetic Screen Panel

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA
More info about this panel
SITOSTEROLEMIA Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SITOSTEROLEMIA that also includes the following genes: ABCG5 ABCG8
More info about this panel
Neonatal and Adult Cholestasis: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel
ABCG8 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCG8 gene.
More info about this panel
Thrombocytopenia Panel Panel

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1
More info about this panel
Bleeding Disorder/Coagulopathy Panel Panel

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panel
Comprehensive Hematology Panel Panel

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel
Hyperlipidemia Panel Panel

By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2
More info about this panel
Sitosterolemia Panel

By Bioarray
This panel specifically test the ABCG8 gene.
More info about this panel
Sitosterolemia NGS and Deletion/Duplication Panel Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Sitosterolemia NGS and Deletion/Duplication Panel that also includes the following genes: ABCG5 ABCG8
More info about this panel
ABCG8 Gene Sequencing and Deletion/Duplication Analysis Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ABCG8 gene.
More info about this panel
Sitosterolemia Panel

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Sitosterolemia that also includes the following genes: ABCG5 ABCG8
More info about this panel
SITOSTEROLEMIA Panel

By Laboratorio de Genetica Clinica SL SITOSTEROLEMIA that also includes the following genes: ABCG5 ABCG8
More info about this panel
Sitosterolemia, Sequencing ABCG8 Gene Panel

By Reference Laboratory Genetics
This panel specifically test the ABCG8 gene.
More info about this panel
Sitosterolemia , Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes Panel

By Reference Laboratory Genetics Sitosterolemia , Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes that also includes the following genes: ABCG5 ABCG8
More info about this panel
Sitosterolemia: gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics Sitosterolemia: gene sequencing panel that also includes the following genes: ABCG5 ABCG8
More info about this panel
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