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.

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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


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

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

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

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

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

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

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

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

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

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

ABCD3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCD3 gene.

More info about this panel

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

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

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

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


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