COL4A6 gene related symptoms and diseases
All the information presented here about the COL4A6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL4A6 gene
Symptoms // Phenotype | % Cases |
---|---|
Hearing impairment | Common - Between 50% and 80% cases |
Sensorineural hearing impairment | Common - Between 50% and 80% cases |
Wheezing | Uncommon - Between 30% and 50% cases |
Moderate hearing impairment | Uncommon - Between 30% and 50% cases |
Bilateral sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with COL4A6 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Tracheobronchial leiomyomatosis
- Anterior lenticonus
- Diffuse leiomyomatosis
- Diffuse glomerular basement membrane lamellation
- High-frequency sensorineural hearing impairment
- Lenticonus
- Thickening of the glomerular basement membrane
- Macroscopic hematuria
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL4A6 gene
Here you will find a list of rare diseases related to the COL4A6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME
Alternate names
X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome, chromosome xq22.3 centromeric deletion syndrome, alport syndrome and diffuse leiomyomatosis, leiomyomatosis, esophageal and vulval, with nephropathy, ats-dl
Description
The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.
Most common symptoms of X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME
- Hearing impairment
- Failure to thrive
- Sensorineural hearing impairment
- Cataract
- Dysphagia
More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME
DEAFNESS, X-LINKED 6; DFNX6
Most common symptoms of DEAFNESS, X-LINKED 6; DFNX6
- Hearing impairment
- Sensorineural hearing impairment
- Bilateral sensorineural hearing impairment
- Moderate hearing impairment
- Cochlear malformation
More info about DEAFNESS, X-LINKED 6; DFNX6
SOURCES: OMIM
X-LINKED NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFN
Alternate names
X-LINKED NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFN Is also known as x-linked isolated sensorineural hearing loss type dfn, x-linked non-syndromic neurosensory hearing loss type dfn, x-linked non-syndromic neurosensory deafness type dfn, x-linked non-syndromic sensorineural hearing loss type dfn, x-linked isolated sensorineura
More info about X-LINKED NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFN
SOURCES: ORPHANET
Search interest in COL4A6
Potential gene panels for COL4A6 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panelOtoSCOPE Panel
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panelSyndromic deafness (NGS panel for 62 genes) Panel
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelNon syndromic deafness AR and XL (NGS panel for 56 genes) Panel
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panelSyndromic and non syndromic deafness (NGS panel for 127 genes) Panel
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panelNon syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panelLeiomyomatosis, diffuse, with Alport syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the COL4A6 gene.
More info about this panelNephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2
More info about this panelAlport Syndrome (AS) Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Alport Syndrome (AS) Sequencing Panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6
More info about this panelDeafness, X-linked 6 (DFNX6) via COL4A6 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the COL4A6 gene.
More info about this panelAlport syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Alport syndrome Comprehensive panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6
More info about this panelAlport syndrome Deletion/ Duplication panel Panel
By Connective Tissue Gene Tests Alport syndrome Deletion/ Duplication panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6
More info about this panelAlport syndrome NGS panel Panel
By Connective Tissue Gene Tests Alport syndrome NGS panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6
More info about this panelNephrotic syndrome and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelNephrotic syndrome and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelNephrotic syndrome and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelDeafness, X-linked type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the COL4A6 gene.
More info about this panelHearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panelSyndromic Hearing Loss Panel Panel
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelHearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panelUsher Syndrome Panel
By Asper Biogene Asper Biogene LLC Usher Syndrome that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 GIPC3
More info about this panelHearing Loss: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panelCOL4A6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL4A6 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelComprehensive Hearing Loss and Deafness Panel Panel
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panelNon-Syndromic Hearing Loss Panel Panel
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panelSyndromic Hearing Loss Panel Panel
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panelAlport Syndrome Panel Panel
By Blueprint Genetics Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelDEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panelX-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics X-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMPX TIMM8A COL4A5 COL4A6 AIFM1 POU3F4 PRPS1
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