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.
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
Search interest in COL4A4
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
Alport Syndrome (sequence analysis of COL4A4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL4A4 gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Alport syndrome, AR Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL4A4 gene.
More info about this panel Germany.
Alport syndrome, AR Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL4A4 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Poland.
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 Estonia.
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 United States.
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 Netherlands.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
COL4A4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL4A4 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Alport syndrome Panel
Spain.
By Bioarray
This panel specifically test the COL4A4 gene.
More info about this panel Spain.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Canada.
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 Canada.
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 Spain.
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 Spain.
Alport Syndrome, Sequencing COL4A4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL4A4 gene.
More info about this panel Spain.
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 Spain.
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