TFG gene related symptoms and diseases
All the information presented here about the TFG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TFG gene
Symptoms // Phenotype | % Cases |
---|---|
Sensory impairment | Uncommon - Between 30% and 50% cases |
Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
Babinski sign | Uncommon - Between 30% and 50% cases |
Neoplasm | Uncommon - Between 30% and 50% cases |
Bulbar palsy | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with TFG gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Areflexia of lower limbs
- Bulbar signs
- Proximal amyotrophy
- Hand tremor
- Abnormality of lipid metabolism
- Decreased number of peripheral myelinated nerve fibers
- Intellectual disability
- Axonal degeneration
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TFG gene
Here you will find a list of rare diseases related to the TFG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57 Is also known as spastic paraplegia due to partial tfg deficiency, spg57
Description
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57
- Intellectual disability
- Spasticity
- Peripheral neuropathy
- Hyperreflexia
- Optic atrophy
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57
HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE
Alternate names
HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly, hmsnp, formerly, hmsnp, hereditary motor and sensory neuropathy, proximal type
Description
Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
Most common symptoms of HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE
- Muscle weakness
- Peripheral neuropathy
- Skeletal muscle atrophy
- Tremor
- Gait disturbance
More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE
DIFFERENTIATED THYROID CARCINOMA
Alternate names
DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc
Description
Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
Most common symptoms of DIFFERENTIATED THYROID CARCINOMA
- Neoplasm
- Pain
- Carcinoma
- Hoarse voice
- Goiter
More info about DIFFERENTIATED THYROID CARCINOMA
EXTRASKELETAL MYXOID CHONDROSARCOMA
Alternate names
EXTRASKELETAL MYXOID CHONDROSARCOMA Is also known as emc
Description
Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002).
Most common symptoms of EXTRASKELETAL MYXOID CHONDROSARCOMA
- Neoplasm
- Chondrosarcoma
- Soft tissue neoplasm
More info about EXTRASKELETAL MYXOID CHONDROSARCOMA
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO TFG MUTATION
Alternate names
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO TFG MUTATION Is also known as cmt2 due to tfg mutation
More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO TFG MUTATION
SOURCES: ORPHANET
Search interest in TFG
Potential gene panels for TFG gene
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
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 panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
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 panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
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 panelHereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel
By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
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 panelHereditary spastic paraplegia (NGS panel for 43 genes) Panel
By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelComprehensive Neuropathy Sequencing Panel with CNV Detection Panel
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 panelTFG-Related Disorders via TFG Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TFG gene.
More info about this panelCharcot-Marie-Tooth disease Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot-Marie-Tooth disease NGS panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot-Marie-Tooth disease Comprehensive panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelNeuropathy Panel
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 panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelSpinal Muscular Atrophy, Proximal Motor Neuropathy Panel
By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2
More info about this panelHereditary motor and sensory neuropathy, Okinawa type Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TFG gene.
More info about this panelSPG57 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TFG gene.
More info about this panelAllNeuro panel Panel
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 panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
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 panelHereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2
More info about this panelCharcot-Marie-Tooth Disease Panel
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 panelInvitae Comprehensive Neuropathies Panel Panel
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 panelInvitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
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 panelInvitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel
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 panelInvitae Amyotrophic Lateral Sclerosis Panel Panel
By Invitae Invitae Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB CHCHD10 OPTN DCTN1
More info about this panelInvitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel
By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10
More info about this panelTFG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TFG gene.
More info about this panelOnco microarray for MDS/AML Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WISP3 ACAT2 CYP3A5 IFNGR2 TBXT APOB FPGT-TNNI3K