KARS gene related symptoms and diseases
All the information presented here about the KARS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KARS gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Uncommon - Between 30% and 50% cases |
Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
Areflexia | Uncommon - Between 30% and 50% cases |
Hyporeflexia | Uncommon - Between 30% and 50% cases |
Pes cavus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KARS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Distal sensory impairment
- Foot dorsiflexor weakness
- Steppage gait
- Axonal loss
- Schwannoma
- Vestibular Schwannoma
- Hearing impairment
- Severe hearing impairment
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KARS gene
Here you will find a list of rare diseases related to the KARS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B
Alternate names
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as ri-cmtb, charcot-marie-tooth neuropathy, recessive intermediate b, ri-cmt type b
Description
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Most common symptoms of AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B
- Global developmental delay
- Peripheral neuropathy
- Areflexia
- Hyporeflexia
- Pes cavus
More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B
DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89
- Hearing impairment
- Severe hearing impairment
- Profound hearing impairment
More info about DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89
SOURCES: OMIM
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
SOURCES: ORPHANET
Search interest in KARS
Potential gene panels for KARS gene
MitoMet®Plus aCGH Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel![](/img/flags/United-states.png)
KARS Comprehensive - Sequence & Deletion/Duplication Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/United-states.png)
KARS Deletion/Duplication Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/United-states.png)
KARS Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/United-states.png)
KARS Sequence Analysis (Prenatal Diagnosis) Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/United-states.png)
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
![](/img/flags/United-states.png)
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel![](/img/flags/United-states.png)
NGS Hearing Loss Panel Panel
![](/img/flags/United-states.png)
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
OtoSCOPE Panel
![](/img/flags/United-states.png)
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel![](/img/flags/United-states.png)
Comprehensive Mitochondrial Metabolic Panel Panel
![](/img/flags/United-states.png)
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel![](/img/flags/United-states.png)
OtoGenome Test for Hearing Loss (110 Genes) Panel
![](/img/flags/United-states.png)
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
KARS-Related Disorders via KARS Gene Sequencing with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/United-states.png)
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth disease Deletion / Duplication panel Panel
![](/img/flags/United-states.png)
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 panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth disease NGS panel Panel
![](/img/flags/United-states.png)
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 panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth disease Comprehensive panel Panel
![](/img/flags/United-states.png)
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 panel![](/img/flags/United-states.png)
Neuropathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Neurogenetic Disorders - panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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 panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mitochondrial Diseases Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Deafness, autosomal recessive type 89 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CMTRIB Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nuclear encoded Mitochondriopathies Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Usher Syndrome Panel
![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
By Asper Biogene Asper Biogene LLC Usher Syndrome that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 GIPC3
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Charcot-Marie-Tooth Disease Panel
![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Hearing Loss: Sequencing Panel Panel
![](/img/flags/United-states.png)
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel![](/img/flags/United-states.png)
Nuclear-Mito NGS Panel Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel![](/img/flags/United-states.png)
KARS Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KARS gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Hearing Loss and Deafness Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Non-Syndromic Hearing Loss Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Charcot-Marie-Tooth Neuropathy Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
CHARCOT-MARIE-TOOTH : NGS PANEL Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ENPEP AARS2