Bile Acid Synthesis Defect, Congenital, 5; Cbas5

Clinical Features

Top most frequent phenotypes and symptoms related to Bile Acid Synthesis Defect, Congenital, 5; Cbas5

  • Anemia
  • Hypertension
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Hepatic failure
  • Pancytopenia

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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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Bile Acid Synthesis Defect, Congenital, 5; Cbas5 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 %
Peroxisomal Disorders Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SCP2, ACOX1, CAT, GDAP1, PEX26, MFF, FAR1, DNM1L, PEX5L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11A, PEX11B , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ACOX1, PEX26, DNM1L, AGPS, GNPAT, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PEX19 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Bile Acid Synthesis Defect-5 via ABCD3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ABCD3
Specificity
100 %
Genes
100 %
Peroxisomal disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

SCP2, ACOX1, ABHD12, PEX26, DNM1L, AGPS, GNPAT, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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