Bile Acid Synthesis Defect, Congenital, 4; Cbas4

Clinical Features

Top most frequent phenotypes and symptoms related to Bile Acid Synthesis Defect, Congenital, 4; Cbas4

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity
  • Jaundice
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Malabsorption
  • Cirrhosis

And another 12 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.

Alternative names

Bile Acid Synthesis Defect, Congenital, 4; Cbas4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid, trihydroxycoprostanic acid in bile.

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.

Bile Acid Synthesis Defect, Congenital, 4; Cbas4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
Alpha Methylacyl-CoA Racemase Deficiency.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

AMACR
Specificity
100 %
Genes
50 %
Peroxisomal Disorders Comprehensive NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SCP2, ACOX1, CAT, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, TRIM37, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
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
50 %
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
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
50 %
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
50 %
Peroxisomal disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

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

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %

You can get up to 38 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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