CYP7B1 gene related symptoms and diseases
All the information presented here about the CYP7B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CYP7B1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hepatosplenomegaly | Common - Between 50% and 80% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Diarrhea | Uncommon - Between 30% and 50% cases |
Cirrhosis | Uncommon - Between 30% and 50% cases |
Pruritus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CYP7B1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the liver
- Elevated hepatic transaminase
- Jaundice
- Splenomegaly
- Hepatomegaly
- Gastrointestinal hemorrhage
- Failure to thrive
- Upper limb dysmetria
And 67 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CYP7B1 gene
Here you will find a list of rare diseases related to the CYP7B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A Is also known as spg5a
Description
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A
- Intellectual disability
- Scoliosis
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3
Alternate names
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3 Is also known as basd3, oxysterol 7-alpha-hydroxylase deficiency
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.
Most common symptoms of CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3
- Failure to thrive
- Hepatomegaly
- Diarrhea
- Splenomegaly
- Jaundice
More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
Alternate names
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 deficiency
Description
Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
Most common symptoms of SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
- Seizures
- Respiratory distress
- Blindness
- Immunodeficiency
- Hepatosplenomegaly
More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS
Search interest in CYP7B1
Potential gene panels for CYP7B1 gene
HSP, Comprehensive Evaluation Panel
By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART
More info about this panelHSP, Supplemental Sporadic Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26
More info about this panelHSP, Supplemental Recessive Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Recessive Evaluation that also includes the following genes: SACS PNPLA6 SPART SPG21 FA2H AP5Z1 CYP7B1 ALS2 KIF1A
More info about this panelHSP, Complete Recessive Evaluation Panel
By Athena Diagnostics Inc HSP, Complete Recessive Evaluation that also includes the following genes: SACS SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 FA2H AP5Z1 CYP7B1
More info about this panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelTest for Spastic Paraplegia 5A Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CYP7B1 gene.
More info about this panelHSPAR panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht HSPAR panel that also includes the following genes: SACS SPG11 SPG7 CCT5 PNPLA6 GJC2 SPART SPG21 ZFYVE26 CYP7B1
More info about this panelCYP7B1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the CYP7B1 gene.
More info about this panelLiver Diseases Panel by next-generation sequencing (NGS) Panel
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 panelBile Acid Defects Panel by next-generation sequencing (NGS) Panel
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 panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelSpastic paraplegia 5A, AUTOSOMAL RECESSIVE Panel
By Human Genetics University Hospital Bern
This panel specifically test the CYP7B1 gene.
More info about this panelCYP7B1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CYP7B1 gene.
More info about this panelCongenital bile acid synthesis defect type 3 (sequence analysis of CYP7B1 gene) Panel
By CGC Genetics
This panel specifically test the CYP7B1 gene.
More info about this panelSpastic Paraplegia 5A (sequence analysis of CYP7B1 gene) Panel
By CGC Genetics
This panel specifically test the CYP7B1 gene.
More info about this panelHereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel
By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panelSpastic paraplegia 5A (SPG5A, sequence analysis of CYP7B1 gene) Panel
By CGC Genetics
This panel specifically test the CYP7B1 gene.
More info about this panelHereditary spastic paraplegia (NGS panel for 43 genes) Panel
By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelPure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelSpastic Paraplegia 5A via CYP7B1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CYP7B1 gene.
More info about this panelCYP7B1 Panel
By MGZ Medical Genetics Center
This panel specifically test the CYP7B1 gene.
More info about this panelHepatic and pancreatic diseases - panels Panel
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 panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelBile acid synthesis defect congenital Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CYP7B1 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelSpastic paraplegia 5A Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CYP7B1 gene.
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelHereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2
More info about this panelHereditary Spastic Paraplegia Panel
By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelInvitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel that also includes the following genes: SACS SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panelSPASTIC PARAPLEGIA A.R Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.R that also includes the following genes: SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART SPG21 ZFYVE26 FA2H AP5Z1
More info about this panelNeonatal and Adult Cholestasis: Sequencing Panel Panel
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 panelSpastic Paraplegia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panelCYP7B1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYP7B1 gene.
More info about this panelSpastic Paraplegia Panel Panel
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panelCholestasis Panel Panel
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 panelSpastic paraplegia 5A, autosomal recessive Panel
By Bioarray
This panel specifically test the CYP7B1 gene.
More info about this panelCYP7B1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CYP7B1 gene.
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
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 panelSPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL RECESSIVE) that also includes the following genes: SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 AP5Z1 CYP7B1
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panelAutosomal Recessive Spastic Paraplegia Type 5A , Sequencing CYP7B1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CYP7B1 gene.
More info about this panelAutosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SPG11 SPG7 PNPLA6 GJC2 SPART FA2H AP5Z1 CYP7B1 ALS2 KIF1A
More info about this panelFamilial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel
By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26
More info about this panelHereditary Spastic Paraplegia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2
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