ACTN4 gene related symptoms and diseases
All the information presented here about the ACTN4 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 ACTN4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Nephrotic syndrome | Uncommon - Between 30% and 50% cases |
| Microalbuminuria | Uncommon - Between 30% and 50% cases |
| Ocular pain | Uncommon - Between 30% and 50% cases |
| Microscopic hematuria | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACTN4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Focal segmental glomerulosclerosis
- Glomerulosclerosis
- Hypoalbuminemia
- Chronic kidney disease
- Hyperlipidemia
- Ascites
- Pain
- Hematuria
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACTN4 gene
Here you will find a list of rare diseases related to the ACTN4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
Alternate names
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Is also known as glomerulosclerosis, focal segmental, 1
Description
Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.
Most common symptoms of FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
- Hearing impairment
- Pain
- Anemia
- Hypertension
- Edema
More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
Alternate names
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
SOURCES: ORPHANET
Search interest in ACTN4
Potential gene panels for ACTN4 gene
ACTN4 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the ACTN4 gene.
More info about this panel United States.
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation Panel
United States.
By Athena Diagnostics Inc Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation that also includes the following genes: TRPC6 NPHS2 ACTN4 INF2
More info about this panel United States.
Test for Focal Segmental Glomerulosclerosis 1 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ACTN4 gene.
More info about this panel Netherlands.
FSGS Panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht FSGS Panel that also includes the following genes: TRPC6 NPHS2 CD2AP ACTN4 NPHS1
More info about this panel Netherlands.
Nephrotic Syndrome Region of Interest-Trio Panel
United States.
By Claritas Genomics Nephrotic Syndrome Region of Interest-Trio that also includes the following genes: ACTN4 COQ8B
More info about this panel United States.
Nephrotic Syndrome Region of Interest- Proband Only Panel
United States.
By Claritas Genomics Nephrotic Syndrome Region of Interest- Proband Only that also includes the following genes: ACTN4 COQ8B
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.
ACTN4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACTN4 gene.
More info about this panel Spain.
NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS that also includes the following genes: NPHS2 ACTN4 NPHS1
More info about this panel Spain.
Focal Segmental Glomerulosclerosis 1 (sequence analysis of ACTN4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACTN4 gene.
More info about this panel Portugal.
Nephrotic syndrome (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Nephrotic syndrome (NGS panel for 11 genes) that also includes the following genes: WT1 NPHS2 ACTN4 PLCE1 COQ8B DGKE EMP2 LAMB2 ARHGDIA NPHS1
More info about this panel Portugal.
Focal glomerulonephrosis (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Focal glomerulonephrosis (NGS panel for 11 genes) that also includes the following genes: TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 CRB2 INF2 MYO1E NPHS1
More info about this panel Portugal.
Focal segmental glomerulosclerosis 1 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the ACTN4 gene.
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.
Focal Segmental Glomerulosclerosis (FSGS) via ACTN4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACTN4 gene.
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.
Focal segmental glomerusclerosis 1 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the ACTN4 gene.
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.
Focal Segmental Glomerulosclerosis 1 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ACTN4 gene.
More info about this panel Germany.
ACTN4 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ACTN4 gene.
More info about this panel Netherlands.
Focal segmental glomerulosclerosis type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACTN4 gene.
More info about this panel Germany.
Glomerulosclerosis, focal segmental Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACTN4 gene.
More info about this panel Germany.
Focal Segmental Glomerulosclerosis Panel Panel
Germany.
By CeGaT GmbH Focal Segmental Glomerulosclerosis Panel that also includes the following genes: TRPC6 ANLN CD2AP ALDH1A2 ACTN4 CRB2 COQ6 INF2 ARHGAP24 WDR73
More info about this panel Germany.
Glomerulosclerosis, focal segmental Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glomerulosclerosis, focal segmental that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP ACTN4 PLCE1 INF2 MYO1E NPHS1 PAX2
More info about this panel Spain.
Steroid-Resistant Nephrotic Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Steroid-Resistant Nephrotic Syndrome NGS Panel that also includes the following genes: CD2AP ACTN4 INF2 COQ2 LAMB2
More info about this panel United States.
ACTN4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACTN4 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.
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Panel
Spain.
By Bioarray
This panel specifically test the ACTN4 gene.
More info about this panel Spain.
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.
STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS. Panel
Spain.
By Laboratorio de Genetica Clinica SL STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS. that also includes the following genes: TRPC6 CD2AP ACTN4 INF2 ARHGAP24 MYO1E
More info about this panel Spain.
Focal Segmental Glomerulosclerosis Type 1 , Sequencing ACTN4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACTN4 gene.
More info about this panel Spain.
Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP ACTN4 PLCE1 INF2 MYO1E NPHS1 PAX2
More info about this panel Spain.
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