AKR1D1 gene related symptoms and diseases

All the information presented here about the AKR1D1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AKR1D1 gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Hyperbilirubinemia Very Common - Between 80% and 100% cases
Chronic hepatic failure Very Common - Between 80% and 100% cases
Giant cell hepatitis Very Common - Between 80% and 100% cases
Hypertyrosinemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AKR1D1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Portal fibrosis
  • Biliary tract abnormality
  • Prolonged prothrombin time
  • Intrahepatic cholestasis
  • Steatorrhea
  • Abnormality of the coagulation cascade
  • Rickets
  • Elevated alkaline phosphatase

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AKR1D1 gene

Here you will find a list of rare diseases related to the AKR1D1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2


Alternate names

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2 Is also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, basd2

Description

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.

Most common symptoms of CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Osteoporosis


More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2

SOURCES: OMIM ORPHANET MESH


Potential gene panels for AKR1D1 gene

Cholestasis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cholestasis that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB4 JAG1

More info about this panel

AKR1D1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the AKR1D1 gene.

More info about this panel

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

Cholestasis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Cholestasis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Cholestasis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4

More info about this panel

Congenital Bile Acid Synthesis Defect Type 2 via AKR1D1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AKR1D1 gene.

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Bile acid synthesis defect type 2, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AKR1D1 gene.

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

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

Cholestasis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cholestasis NGS Panel that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB11 ABCB4 JAG1 SERPINA1

More info about this panel

AKR1D1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AKR1D1 gene.

More info about this panel

Cholestasis Panel Panel

Finland.

By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2

More info about this panel

AKR1D1 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 AKR1D1 gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel


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