COL4A4 gene related symptoms and diseases

All the information presented here about the COL4A4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL4A4 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hematuria Uncommon - Between 30% and 50% cases
Diffuse glomerular basement membrane lamellation Uncommon - Between 30% and 50% cases
Thickening of the glomerular basement membrane Uncommon - Between 30% and 50% cases
Corneal erosion Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with COL4A4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Microscopic hematuria
  • Nephritis
  • Nephrotic syndrome
  • Bilateral sensorineural hearing impairment
  • Stage 5 chronic kidney disease
  • Failure to thrive
  • Abnormality of the kidney
  • Proteinuria

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COL4A4 gene

Here you will find a list of rare diseases related to the COL4A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT ALPORT SYNDROME


Description

A genetically heterogenous disorder characterized by kidney abnormalities with hematuria and proteinuria, sensorineural hearing loss, and eye abnormalities. Two main genetically distinct forms are recognized: An X-linked dominant form (MIM 301050) with additional features including mental retardation, dysmorphic facies with midfacial hypoplasia, elliptocytosis and smooth muscle tumors; and an autosomal recessive form (OMIM 203780). Variants of Alport syndrome without mental retardation include: Alport syndrome with leukocyte inclusions and macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Fechtner syndrome (named after a patient) Sebastian platelet syndrome (named after a patient) macrothrombocytopathy-deafness-nephritis-leukocyte inclusions syndrome (OMIM 153640) Alport syndrome with macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Epstein syndrome hereditary macrothrombocytopathia-nephritis-deafness syndrome macrothrombocytopathy-nephritis-deafness syndrome thrombocytopenia-macrothrombocytopathia-nephritis-defames syndrome (OMIM 153650) hereditary nephropathy-deafness syndrome (transmitted as an autosomal dominant trait) Synonym: hereditary nephropathy-sensorineural hearing loss syndrome (OMIM 104200) Alport syndrome with abnormal collagen of basement membrane (transmitted as an X-linked trait) (OMIM 303630)


More info about AUTOSOMAL DOMINANT ALPORT SYNDROME

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE ALPORT SYNDROME


Description

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Most common symptoms of AUTOSOMAL RECESSIVE ALPORT SYNDROME

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for COL4A4 gene

COL4A4 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL4A4 gene.

More info about this panel

Complete Alport Syndrome Evaluation Panel

United States.

By Athena Diagnostics Inc Complete Alport Syndrome Evaluation that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

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

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

Alport syndrome panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Alport syndrome panel that also includes the following genes: COL4A3 COL4A4 COL4A5

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

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

COL4A4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A4 gene.

More info about this panel

COL4A3, COL4A4, COL4A5. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica COL4A3, COL4A4, COL4A5. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

COL4A3, COL4A4. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica COL4A3, COL4A4. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL4A3 COL4A4

More info about this panel

Alport Syndrome Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alport Syndrome Del/Dup Panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alport Syndrome Seq Analysis that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alport Syndrome Seq + Del/Dup Panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Audiome (hearing loss panel) Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C

More info about this panel

Alport Syndrome (sequence analysis of COL4A4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL4A4 gene.

More info about this panel

Alport syndrome (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Alport syndrome (NGS panel for 3 genes) that also includes the following genes: COL4A3 COL4A4 COL4A5

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

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

Alport syndrome, autosomal recessive Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Alport syndrome, autosomal recessive that also includes the following genes: COL4A3 COL4A4

More info about this panel

Alport Syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Alport Syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

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

Alport Syndrome (AS) via COL4A4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL4A4 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

Alport syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

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

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Alport syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport syndrome, autosomal dominant/ autosomal recessive Panel

Germany.

By Bioscientia GmbH Center for Human Genetics Alport syndrome, autosomal dominant/ autosomal recessive that also includes the following genes: COL4A3 COL4A4

More info about this panel

Alport syndrome Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport syndrome, AR Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL4A4 gene.

More info about this panel

Alport syndrome, AR Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL4A4 gene.

More info about this panel

Alport syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Alport syndrome panel that also includes the following genes: COL4A3 COL4A4 COL4A5

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

Alport Syndrome Panel Panel

Germany.

By CeGaT GmbH Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 EIF2AK3 MYH9

More info about this panel

Alport syndrome Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Alport Syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Vitreoretinopathy panel Panel

United States.

By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5

More info about this panel

COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the COL4A4 gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

ALPORT, SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ALPORT, SYNDROME that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport syndrome: COL4A4 gene sequence analysis (DNA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the COL4A4 gene.

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

Alport Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Alport Syndrome NGS Panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

COL4A4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL4A4 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

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

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

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

Alport syndrome Panel

Spain.

By Bioarray

This panel specifically test the COL4A4 gene.

More info about this panel

Alport Syndrome Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Alport Syndrome Gene Set that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2

More info about this panel

SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2

More info about this panel

ALPORT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ALPORT SYNDROME that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport & Stickler syndrome hearing loss panel Panel

Canada.

By LifeLabs Genetics Alport & Stickler syndrome hearing loss panel that also includes the following genes: COL11A2 COL4A3 COL4A4 COL4A5 COL9A1 COL9A2 EDNRB

More info about this panel

Alport syndrome panel Panel

Canada.

By LifeLabs Genetics Alport syndrome panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome, Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes Panel

Spain.

By Reference Laboratory Genetics Alport Syndrome, Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome , Deletions-Duplications (MLPA) COL4A4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A4 gene.

More info about this panel

Alport Syndrome, Sequencing COL4A4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A4 gene.

More info about this panel

Benign Familial Hematuria, Massive Sequencing COL4A3, COL4A4 Genes Panel

Spain.

By Reference Laboratory Genetics Benign Familial Hematuria, Massive Sequencing COL4A3, COL4A4 Genes that also includes the following genes: COL4A3 COL4A4

More info about this panel


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