SACS gene related symptoms and diseases
All the information presented here about the SACS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SACS gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Decreased motor nerve conduction velocity | Very Common - Between 80% and 100% cases |
Impaired vibration sensation in the lower limbs | Very Common - Between 80% and 100% cases |
Cerebellar vermis atrophy | Very Common - Between 80% and 100% cases |
Progressive spastic paraplegia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SACS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Progressive spasticity
- Urinary urgency
- Impotence
- Hammertoe
- Progressive gait ataxia
- Impaired vibratory sensation
- Cone-shaped epiphysis
- Decreased nerve conduction velocity
And 65 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SACS gene
Here you will find a list of rare diseases related to the SACS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
Alternate names
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6, charlevoix-saguenay spastic ataxia, autosomal recessive spastic ataxia of charlevoix-saguenay, spax6, spastic ataxia 6, autosomal recessive, arsacs
Description
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Ataxia
More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
Search interest in SACS
Potential gene panels for SACS gene
GeneAware Complete Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelGeneAware Complete Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panelHSP, Comprehensive Evaluation Panel
By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART
More info about this panelHSP, Supplemental Sporadic Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26
More info about this panelHSP, Supplemental Recessive Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Recessive Evaluation that also includes the following genes: SACS PNPLA6 SPART SPG21 FA2H AP5Z1 CYP7B1 ALS2 KIF1A
More info about this panelHSP, Complete Recessive Evaluation Panel
By Athena Diagnostics Inc HSP, Complete Recessive Evaluation that also includes the following genes: SACS SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 FA2H AP5Z1 CYP7B1
More info about this panelAtaxia, Supplemental Recessive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Supplemental Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10
More info about this panelAtaxia, Complete Recessive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Complete Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10
More info about this panelAtaxia, Comprehensive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA
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 panelTest for ARSACS Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SACS gene.
More info about this panelHSPAR panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht HSPAR panel that also includes the following genes: SACS SPG11 SPG7 CCT5 PNPLA6 GJC2 SPART SPG21 ZFYVE26 CYP7B1
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelSpastic ataxia, Charlevoix-Saguenay type Panel
By Human Genetics University Hospital Bern
This panel specifically test the SACS gene.
More info about this panelARSACS Panel
By Human Genetics University Hospital Bern
This panel specifically test the SACS gene.
More info about this panelSACS. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SACS gene.
More info about this panelSACS. NextGeneDx. Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SACS gene.
More info about this panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panelSpastic ataxia, Charlevoix-Saguenay type (ARSACS, sequence analysis of SACS gene) Panel
By CGC Genetics
This panel specifically test the SACS gene.
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 panelAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via SACS Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SACS gene.
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 panelAtaxia Panel
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panelAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Panel
By PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.
This panel specifically test the SACS gene.
More info about this panelSpastic ataxia Charlevoix-Saguenay type Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SACS 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 panelNuclear encoded Mitochondriopathies Panel Panel
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 panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelSingle gene testing SACS Panel
By CeGaT GmbH
This panel specifically test the SACS gene.
More info about this panelAtaxia, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panelSpinocerebellar Ataxia Panel
By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX
More info about this panelFamily Prep Screen Panel
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelInvitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel that also includes the following genes: SACS SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panelSpastic ataxia, Charlevoix-Saguenay type: SACS gene screening Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SACS gene.
More info about this panelSpinocerebellar ataxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panelAtaxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS) Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the SACS gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelNuclear-Mito NGS Panel Panel
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 panelSACS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SACS gene.
More info about this panelSpastic Paraplegia Panel Panel
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
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 panelAutosomal recessive spastic ataxia of Charlevoix-Saguenay Panel
By Bioarray
This panel specifically test the SACS gene.
More info about this panelSPASTIC ATAXIA, CHARLEVOIXSAGUENAY TYPE Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SACS gene.
More info about this panelSPASTIC ATAXIA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC ATAXIA: NGS PANEL that also includes the following genes: SACS SPG7 VAMP1 MARS2 MTPAP AFG3L2 KIF1C
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 panelAtaxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A
More info about this panelCharlevoix-Saguenay Spastic Ataxia, Massive Sequencing (NGS) SACS Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SACS gene.
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
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 SLC25A38 ACACA PAH GRID2 BACH2 MPC1 MYO18B