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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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

SOURCES: MESH ORPHANET OMIM

Search interest in SACS

Potential gene panels for SACS gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

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

SACS gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SACS gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to SACS gene

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Search interest in SACS

Potential gene panels for SACS gene

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

HSP, Comprehensive Evaluation Panel

HSP, Supplemental Sporadic Evaluation Panel

HSP, Supplemental Recessive Evaluation Panel

HSP, Complete Recessive Evaluation Panel

Ataxia, Supplemental Recessive Evaluation Panel

Ataxia, Complete Recessive Evaluation Panel

Ataxia, Comprehensive Evaluation Panel

Hereditary Spastic Paraplegia Panel Panel

Test for ARSACS Panel

HSPAR panel Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Spastic ataxia, Charlevoix-Saguenay type Panel

ARSACS Panel

SACS. Complete sequencing Panel

SACS. NextGeneDx. Complete sequencing by NGS Panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Spastic ataxia, Charlevoix-Saguenay type (ARSACS, sequence analysis of SACS gene) Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via SACS Gene Sequencing with CNV Detection Panel

Neuropathy Panel

Neurogenetic Disorders - panels Panel

Ataxia Panel

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Panel

Spastic ataxia Charlevoix-Saguenay type Panel

AllNeuro panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Ataxia and differential diagnoses Panel Panel

Single gene testing SACS Panel

Ataxia, autosomal recessive and X-linked Panel Panel

Spinocerebellar Ataxia Panel

Family Prep Screen Panel

qCarrier Plus Panel

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

Spastic ataxia, Charlevoix-Saguenay type: SACS gene screening Panel

Spinocerebellar ataxia Panel

Ataxia Panel

Hereditary Neuropathies: Sequencing Panel Panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS) Panel

Inheritest NGS, Comprehensive Panel

Intellectual Disability NGS Panel Panel

Nuclear-Mito NGS Panel Panel

SACS Panel

Spastic Paraplegia Panel Panel

Ataxia Panel Panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Autosomal recessive spastic ataxia of Charlevoix-Saguenay Panel

SPASTIC ATAXIA, CHARLEVOIXSAGUENAY TYPE Panel

SPASTIC ATAXIA: NGS PANEL Panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Charlevoix-Saguenay Spastic Ataxia, Massive Sequencing (NGS) SACS Gene Panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel