MYO1E gene related symptoms and diseases
All the information presented here about the MYO1E gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MYO1E gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Edema | Uncommon - Between 30% and 50% cases |
| Renal insufficiency | Uncommon - Between 30% and 50% cases |
| Dilatation | Uncommon - Between 30% and 50% cases |
| Proteinuria | Uncommon - Between 30% and 50% cases |
| Stage 5 chronic kidney disease | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MYO1E gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hematuria
- Nephrotic syndrome
- Chronic kidney disease
- Hypoalbuminemia
- Glomerulosclerosis
- Focal segmental glomerulosclerosis
- Microscopic hematuria
- Tubular atrophy
Rare diseases associated to MYO1E gene
Here you will find a list of rare diseases related to the MYO1E. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6
Alternate names
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 Is also known as glomerulosclerosis, focal segmental, 6
Description
Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).
Most common symptoms of FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6
- Edema
- Renal insufficiency
- Dilatation
- Proteinuria
- Stage 5 chronic kidney disease
More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6
SOURCES: OMIM
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 MYO1E
Potential gene panels for MYO1E gene
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.
Glomerulosclerosis, focal segmental, type 6 (sequence analysis of MYO1E gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MYO1E gene.
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.
Glomerulosclerosis, focal segmental, 6 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the MYO1E 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.
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.
Glomerulosclerosis 6 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the MYO1E 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 type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYO1E 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.
NEPHROTIC SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEPHROTIC SYNDROME that also includes the following genes: STS TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2
More info about this panel Spain.
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.
MYO1E Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYO1E 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.
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 6 , Sequencing MYO1E Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MYO1E gene.
More info about this panel Spain.
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2 ARHGDIA
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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