Bile Acid Synthesis Defect, Congenital, 3; Cbas3

Description

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Bile Acid Synthesis Defect, Congenital, 3; Cbas3

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

Not enough data available about incidence and published cases.


Mendelian

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Bile Acid Synthesis Defect, Congenital, 3; Cbas3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, SPG7, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, PLP1, SACS, ATL1, ZFYVE26, SPG11, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc in United States.

SACS, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2
Specificity
12 %
Genes
100 %
HSP, Complete Recessive Evaluation.

By Athena Diagnostics Inc in United States.

SPG7, SACS, ZFYVE26, SPG11, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2
Specificity
9 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Test for Spastic Paraplegia 5A.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CYP7B1
Specificity
100 %
Genes
100 %
HSPAR panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

SPG7, GJC2, SACS, ZFYVE26, SPG11, PNPLA6, CYP7B1, SPART, SPG21, CCT5
Specificity
10 %
Genes
100 %
CYP7B1 Sequencing.

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

CYP7B1
Specificity
100 %
Genes
100 %
Cholestasis Panel by next-generation sequencing (NGS).

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

ABCB11, ABCB4, ATP8B1, JAG1, SLC25A13, SERPINA1, CYP7B1, TJP2, AKR1D1, VPS33B, VIPAS39, BAAT, ABCC2, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7
Specificity
6 %
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 in United States.

CYP7B1, AKR1D1, HSD3B7
Specificity
34 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Spastic paraplegia 5A, AUTOSOMAL RECESSIVE.

By Human Genetics Ruhr University in Germany.

CYP7B1
Specificity
100 %
Genes
100 %
CYP7B1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CYP7B1
Specificity
100 %
Genes
100 %
Congenital bile acid synthesis defect type 3 (sequence analysis of CYP7B1 gene).

By CGC Genetics in Portugal.

CYP7B1
Specificity
100 %
Genes
100 %
Spastic Paraplegia 5A (sequence analysis of CYP7B1 gene).

By CGC Genetics in Portugal.

CYP7B1
Specificity
100 %
Genes
100 %
Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes).

By CGC Genetics in Portugal.

C12orf65, SPG7, GJC2, PLP1, ZFYVE26, SPG11, L1CAM, SLC33A1, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, TFG, ENTPD1, NT5C2, C19orf12, B4GALNT1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Spastic paraplegia 5A (SPG5A, sequence analysis of CYP7B1 gene).

By CGC Genetics in Portugal.

CYP7B1
Specificity
100 %
Genes
100 %
Hereditary spastic paraplegia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Spastic Paraplegia 5A via CYP7B1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CYP7B1
Specificity
100 %
Genes
100 %
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HSPD1, REEP1, SPG7, FARS2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, NIPA1, SLC33A1, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, BICD2, ERLIN1, REEP2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
CYP7B1.

By MGZ Medical Genetics Center in Germany.

CYP7B1
Specificity
100 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Bile acid synthesis defect congenital.

By Centogene AG - the Rare Disease Company in Germany.

CYP7B1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Spastic paraplegia 5A.

By Centogene AG - the Rare Disease Company in Germany.

CYP7B1
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ABHD12, C12orf65, ALDH18A1, SPG7, GAD1, GJC2, PLP1, ZFYVE26, SPG11, L1CAM, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, TFG, GAN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Hereditary Spastic Paraplegia.

By Asper Biogene Asper Biogene LLC in Estonia.

HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel.

By Invitae in United States.

C12orf65, ALDH18A1, SPG7, GJC2, SACS, ZFYVE26, SPG11, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, NT5C2, KIF1C, B4GALNT1, GBA2, CYP2U1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Invitae Hereditary Spastic Paraplegia Comprehensive Panel.

By Invitae in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
SPASTIC PARAPLEGIA A.R.

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

C12orf65, SPG7, GAD1, GJC2, ZFYVE26, SPG11, L1CAM, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, C19orf12, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Spastic Paraplegia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

OPA3, REEP1, SPG7, ABCD1, ACOX1, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
CYP7B1.

By Fulgent Genetics Fulgent Genetics in United States.

CYP7B1
Specificity
100 %
Genes
100 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Spastic paraplegia 5A, autosomal recessive.

By Bioarray in Spain.

CYP7B1
Specificity
100 %
Genes
100 %
CYP7B1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CYP7B1
Specificity
100 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

SPG7, ZFYVE26, SPG11, PNPLA6, CYP7B1, AP5Z1, SPART
Specificity
15 %
Genes
100 %
Autosomal Recessive Spastic Paraplegia Type 5A , Sequencing CYP7B1 Gene.

By Reference Laboratory Genetics in Spain.

CYP7B1
Specificity
100 %
Genes
100 %
Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

SPG7, GJC2, SPG11, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, ALS2
Specificity
10 %
Genes
100 %
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary Spastic Paraplegia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

C12orf65, HSPD1, REEP1, GAD1, GJC2, PLP1, ATL1, ZFYVE26, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %

Alternate names

Bile Acid Synthesis Defect, Congenital, 3; Cbas3 Is also known as ;basd3; oxysterol 7-alpha-hydroxylase deficiency.


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