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.

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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

SOURCES: OMIM ORPHANET

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


Potential gene panels for COL4A6 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

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 panel

OtoSCOPE Panel

United States.

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 panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

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 panel

Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel

Portugal.

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 panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

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 panel

Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel

Portugal.

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 panel

Leiomyomatosis, diffuse, with Alport syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A6 gene.

More info about this panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

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 panel

Alport Syndrome (AS) Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Alport Syndrome (AS) Sequencing Panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Deafness, X-linked 6 (DFNX6) via COL4A6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL4A6 gene.

More info about this panel

Alport syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Alport syndrome Comprehensive panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Alport syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Alport syndrome Deletion/ Duplication panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Alport syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Alport syndrome NGS panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

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 panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

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 panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Deafness, X-linked type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL4A6 gene.

More info about this panel

Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel

Germany.

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 panel

Syndromic Hearing Loss Panel Panel

Germany.

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 panel

Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel

Germany.

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 panel

Usher Syndrome Panel

Estonia.

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 panel

Hearing Loss: Sequencing Panel Panel

United States.

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 panel

COL4A6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL4A6 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

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

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 panel

Non-Syndromic Hearing Loss Panel Panel

Finland.

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 panel

Syndromic Hearing Loss Panel Panel

Finland.

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 panel

Alport Syndrome Panel Panel

Finland.

By Blueprint Genetics Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 COL4A6 MYH9

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

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 panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

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 panel

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel

Spain.

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 panel

X-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

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

More info about this panel


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