BBS4 gene related symptoms and diseases

All the information presented here about the BBS4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BBS4 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cryptorchidism Very Common - Between 80% and 100% cases
Obesity Very Common - Between 80% and 100% cases
Hypogonadism Very Common - Between 80% and 100% cases
Renal cyst Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BBS4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Clinodactyly
  • Medial flaring of the eyebrow
  • Cognitive impairment
  • Brachydactyly
  • Blindness
  • Abnormality of the dentition
  • Syndactyly
  • Rod-cone dystrophy

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BBS4 gene

Here you will find a list of rare diseases related to the BBS4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BARDET-BIEDL SYNDROME


Alternate names

BARDET-BIEDL SYNDROME Is also known as bbs

Description

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

Most common symptoms of BARDET-BIEDL SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


More info about BARDET-BIEDL SYNDROME

SOURCES: ORPHANET

BARDET-BIEDL SYNDROME 4; BBS4


Description

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Most common symptoms of BARDET-BIEDL SYNDROME 4; BBS4

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


More info about BARDET-BIEDL SYNDROME 4; BBS4

SOURCES: OMIM


Potential gene panels for BBS4 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Bardet-Biedl Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E ADIPOR1 BBS10 BBS12

More info about this panel

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel

Bardet-Biedl Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290

More info about this panel

Monogenic Obesity Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel

Bardet-Biedl Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290

More info about this panel

Monogenic Obesity Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

BBS4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BBS4 gene.

More info about this panel

BBS4-Related Bardet-Biedl Syndrome Panel

Portugal.

By CGC Genetics

This panel specifically test the BBS4 gene.

More info about this panel

Bardet-Biedl syndrome 4 (sequence analysis of BBS4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BBS4 gene.

More info about this panel

Bardet-Biedl syndrome (NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Bardet-Biedl syndrome (NGS panel for 22 genes) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel

Bardet-Biedl syndrome 4 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the BBS4 gene.

More info about this panel

Bardet-Biedl syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bardet-Biedl syndrome that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9 MKKS

More info about this panel

Bardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bardet-Biedl Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 IFT74 BBS10 BBS12 C8orf37

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Bardet-Biedl Syndrome via BBS4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BBS4 gene.

More info about this panel

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

BBS4-Related Bardet-Biedl Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the BBS4 gene.

More info about this panel

Bardet-Biedl syndrome type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BBS4 gene.

More info about this panel

Bardet Biedl panel Panel

Germany.

By Centogene AG - the Rare Disease Company Bardet Biedl panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B CEP290

More info about this panel

AllNeuro panel Panel

Germany.

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 panel

Bardet Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel

Bardet Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel

Bardet-Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel

BBS4-Related Bardet-Biedl Syndrome Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the BBS4 gene.

More info about this panel

Bardet Biedl Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Bardet Biedl Syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 PHF6 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Bardet-Biedl syndrome panel Panel

United States.

By Molecular Vision Laboratory Bardet-Biedl syndrome panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E BBS10 BBS12 C8orf37

More info about this panel

BBS4 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the BBS4 gene.

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Invitae Bardet-Biedl Syndrome Panel Panel

United States.

By Invitae Invitae Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Invitae Ciliopathies Panel Panel

United States.

By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237

More info about this panel

Bardet-Biedl syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Bardet-Biedl syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290

More info about this panel

Bardet-Biedl Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Congenital Obesity: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12

More info about this panel

Bardet-Biedl Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel

Bardet-Biedl Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Bardet-Biedl Syndrome NGS Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

More info about this panel

Retinitis Pigmentosa NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Congenital Hepatic Fibrosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B

More info about this panel

BBS4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BBS4 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Monogenic Obesity Panel Panel

Finland.

By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Leber Congenital Amaurosis Panel Panel

Finland.

By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel

Congenital Hepatic Fibrosis Panel Panel

Finland.

By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7

More info about this panel

Bardet-Biedl Syndrome Panel Panel

Finland.

By Blueprint Genetics Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 PNPLA6 TRIM32 BBS7 TTC8 BBS10 BBS12 C8orf37 WDPCP

More info about this panel

BARDET-BIEDL SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 CEP290 BBS9 MKKS MKS1

More info about this panel

BARDET-BIEDL SYNDROME (NGS) Panel

Spain.

By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME (NGS) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel

Bardet-Biedl Syndrome Type 4 , Sequencing BBS4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BBS4 gene.

More info about this panel

Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290

More info about this panel

Syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10

More info about this panel

Bardet-Biedl Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Bardet-Biedl Syndrome: gene sequencing panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel


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