ABCD3 gene related symptoms and diseases
All the information presented here about the ABCD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCD3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Very Common - Between 80% and 100% cases |
| Hypertension | Very Common - Between 80% and 100% cases |
| Hepatomegaly | Very Common - Between 80% and 100% cases |
| Splenomegaly | Very Common - Between 80% and 100% cases |
| Jaundice | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ABCD3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hepatosplenomegaly
- Elevated hepatic transaminase
- Abnormality of the liver
- Hepatic failure
- Pancytopenia
- Hepatic fibrosis
- Portal hypertension
- Abnormality of the coagulation cascade
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCD3 gene
Here you will find a list of rare diseases related to the ABCD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
Most common symptoms of BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
- Anemia
- Hypertension
- Hepatomegaly
- Splenomegaly
- Jaundice
More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
SOURCES: OMIM
Search interest in ABCD3
Potential gene panels for ABCD3 gene
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
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 United States.
Bile Acid Defects Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bile Acid Defects Panel by next-generation sequencing (NGS) that also includes the following genes: HSD3B7 CYP7B1 AKR1D1 AMACR ABCD3
More info about this panel United States.
Peroxisomal Disorders Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS
More info about this panel Czech Republic.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Peroxisomal Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Peroxisomal Disorders Sequencing Panel with CNV Detection that also includes the following genes: ACOX1 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3 PEX1 PEX10
More info about this panel United States.
Congenital Bile Acid Synthesis Defect-5 via ABCD3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCD3 gene.
More info about this panel United States.
Peroxisomal disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 ABHD12 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3
More info about this panel Spain.
Peroxisomal NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Peroxisomal NGS Panel that also includes the following genes: ACOX1 PEX26 DNM1L AGPS HSD17B4 ABCD1 ABCD3 PEX1 PEX10 PEX11B
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
ABCD3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCD3 gene.
More info about this panel United States.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Peroxisomal Disorders Panel Panel
Finland.
By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4
More info about this panel Finland.
ABCD3 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ABCD3 gene.
More info about this panel United States.
ZELLWEGER SYNDROME – NGS –PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ZELLWEGER SYNDROME – NGS –PANEL that also includes the following genes: PEX26 ABCD3 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CLEC12B ADA2 CALM2 OTOG ELANE