Congenital Bile Acid Synthesis Defect Type 1

Description

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Bile Acid Synthesis Defect Type 1

  • Failure to thrive
  • Peripheral neuropathy
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Osteoporosis
  • Jaundice
  • Hepatosplenomegaly
  • Elevated hepatic transaminase
  • Abnormality of the liver

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Congenital Bile Acid Synthesis Defect Type 1 Is also known as basd1, 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Congenital Bile Acid Synthesis Defect Type 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Bile Acid Defects Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HSD3B7, CYP7B1, AKR1D1, AMACR, ABCD3
Specificity
20 %
Genes
100 %
HSD3B7 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

HSD3B7
Specificity
100 %
Genes
100 %
Cholestasis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital bile acid synthesis defect type 1 (sequence analysis of HSD3B7 gene).

By CGC Genetics (Portugal).

HSD3B7
Specificity
100 %
Genes
100 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC25A13, TJP2, VPS33B, HSD3B7, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, JAG1, NOTCH2, NR1H4, SERPINA1, BAAT
Specificity
7 %
Genes
100 %
Congenital Bile Acid Synthesis Defect Type 1 via HSD3B7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HSD3B7
Specificity
100 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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