INF2 gene related symptoms and diseases
All the information presented here about the INF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to INF2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Glomerulosclerosis | Common - Between 50% and 80% cases |
| Stage 5 chronic kidney disease | Common - Between 50% and 80% cases |
| Focal segmental glomerulosclerosis | Common - Between 50% and 80% cases |
| Proteinuria | Common - Between 50% and 80% cases |
| Glomerulonephritis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with INF2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hammertoe
- Steppage gait
- Axonal loss
- Onion bulb formation
- Distal lower limb amyotrophy
- Distal upper limb amyotrophy
- Mild proteinuria
- Hypertension
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to INF2 gene
Here you will find a list of rare diseases related to the INF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E
Alternate names
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie, charcot-marie-tooth disease-nephropathy syndrome, charcot-marie-tooth neuropathy with focal segmental glomerulonephritis
Description
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.
Most common symptoms of AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Fever
- Skeletal muscle atrophy
More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5
Alternate names
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 Is also known as glomerulosclerosis, focal segmental, 5
Description
Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).Dominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE ) is also caused by heterozygous mutation in the INF2 gene.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 5; FSGS5
- Hypertension
- Edema
- Proteinuria
- Stage 5 chronic kidney disease
- Hematuria
More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5
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 INF2
Potential gene panels for INF2 gene
INF2 (FSGS) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the INF2 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.
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
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.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panel United States.
Focal Segmental Glomerulosclerosis 5 (sequence analysis of INF2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the INF2 gene.
More info about this panel Portugal.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel Portugal.
Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
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 5 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the INF2 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.
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1
More info about this panel United States.
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel United States.
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4
More info about this panel United States.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
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.
Atypical hemolytic uremic syndrome Panel
United Kingdom.
By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust Atypical hemolytic uremic syndrome that also includes the following genes: CFB THBD C3 C5 ADAMTS13 INF2 MMACHC DGKE CFH CFI
More info about this panel United Kingdom.
Glomerulosclerosis, focal segmental, 5 Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the INF2 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.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
INF2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the INF2 gene.
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 5 Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the INF2 gene.
More info about this panel Germany.
Focal segmental glomerulosclerosis type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the INF2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
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.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
Invitae Comprehensive Neuropathies Panel Panel
United States.
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panel United States.
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2
More info about this panel United States.
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel
United States.
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: TFG YARS BSCL2 GDAP1 LITAF MFN2 TRPV4 AARS GNB4 MORC2
More info about this panel United States.
Focal segmental glomerulosclerosis 5: INF2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the INF2 gene.
More info about this panel Spain.
CHARCOT- MARIE TOOTH Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
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.
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.
INF2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the INF2 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.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
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.
CHARCOT-MARIE-TOOTH : NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E , Sequencing INF2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the INF2 gene.
More info about this panel Spain.
Focal Segmental Glomerulosclerosis Type 5 , Sequencing INF2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the INF2 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.
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel Spain.
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
Spain.
By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
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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