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.

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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. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic SyndromeFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (OMIM ), caused by mutation in the TRPC6 gene (OMIM ); FSGS3 (OMIM ), associated with variation in the CD2AP gene (OMIM ); FSGS4 (OMIM ), mapped to chromosome 22q12; FSGS5 (OMIM ), caused by mutation in the INF2 gene (OMIM ); FSGS6 (OMIM ), caused by mutation in the MYO1E gene (OMIM ); FSGS7 (OMIM ), caused by mutation in the PAX2 gene (OMIM ); FSGS8 (OMIM ), caused by mutation in the ANLN gene (OMIM ); and FSGS9 (OMIM ), caused by mutation in the CRB2 gene (OMIM ).See also NPHS1 (OMIM ), caused by mutation in the NPHS1 gene (OMIM ); NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); and NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ).

Most common symptoms of FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

  • Hearing impairment
  • Pain
  • Anemia
  • Hypertension
  • Edema


More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

SOURCES: OMIM MESH

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ACTN4 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ACTN4 gene.

More info about this panel

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

Glomerulosclerosis, focal segmental Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACTN4 gene.

More info about this panel

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

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

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

ACTN4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACTN4 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

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

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

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

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

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


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