MCID: SPS150
MIFTS: 46

Spastic Ataxia, Charlevoix-Saguenay Type

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Spastic Ataxia, Charlevoix-Saguenay Type

MalaCards integrated aliases for Spastic Ataxia, Charlevoix-Saguenay Type:

Name: Spastic Ataxia, Charlevoix-Saguenay Type 53 24 13 69
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 53 23 49 24 55 71 36
Arsacs 53 23 49 24 55 71 51
Charlevoix-Saguenay Spastic Ataxia 53 12 49 24 14
Spastic Ataxia Charlevoix-Saguenay Type 49 71 28
Spastic Ataxia of Charlevoix-Saguenay 23 49 24
Spax6 53 55 71
Sacs 53 49 71
Spastic Ataxia 6, Autosomal Recessive 53 71
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Arsacs 53
Spastic Ataxia 6, Autosomal Recessive; Spax6 53
Autosomal Recessive Spastic Ataxia Type 6 55

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive spastic ataxia of charlevoix-saguenay
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
later onset has been reported
onset usually in infancy or early childhood
most patients become wheelchair-bound
high prevalence in charlevoix-saguenay region of northeastern quebec
estimated carrier frequency in charlevoix-saguenay region is 1/22


HPO:

31
spastic ataxia, charlevoix-saguenay type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 270550
Disease Ontology 12 DOID:0050946
Orphanet 55 ORPHA98
MESH via Orphanet 42 C536787
UMLS via Orphanet 70 C1849140
ICD10 via Orphanet 33 G11.1
MedGen 39 C1849140
MeSH 41 D002524
KEGG 36 H01170
UMLS 69 C1849140

Summaries for Spastic Ataxia, Charlevoix-Saguenay Type

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98Disease definitionAutosomal 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.EpidemiologyIt was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932. The incidence and prevalence worldwide remain unknown but ARSACS is very rare in other countries with cases described from Turkey, Japan, The Netherlands, Italy, Belgium, France and Spain.Clinical descriptionThe age of onset in non-Quebec patients is variable (ranging from late infantile, juvenile to early-adult onset) but in individuals from Quebec, onset occurs between 12 and 18 months of age with gait disturbance and walking difficulties. Other early signs of cerebellar ataxia include dysarthria and nystagmus. The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. Onset of the peripheral neuropathy generally occurs later and leads to absence of the Achilles tendon reflex, distal amyotrophy and deep sensory disturbances (impaired vibration sense). Retinal hypermyelination (without vision loss) is a constant feature in ARSACS patients from Quebec but may be absent in patients from other countries. Lack of leg spasticity has been reported in some Japanese families and intellectual deficit may be a feature in some non-Quebec patients. Other manifestations may include mitral valve prolapse, pes cavus, and bladder dysfunction.EtiologyARSACS is caused by autosomal recessive mutations in the SACS gene (13q11), which encodes a large protein of unknown function named sacsin.Diagnostic methodsClinical diagnosis relies on the results of neuroimaging studies (MRI and CT scans revealing atrophy of the upper cerebellar vermis and cervical spinal cord) and neurophysiological data (signs of both axonal and demyelinating neuropathy, with nerve conduction studies revealing loss of sensory nerve conduction and reduced motor conduction velocities). Retinal examination may also be useful for diagnosis. Diagnosis can be confirmed by detection of SACS mutations.Differential diagnosisDifferential diagnoses include other autosomal recessive ataxias, such as Friedreich ataxia and ataxia with vitamin E deficiency (AVED), and hereditary forms of spastic paraplegia (see these terms), in particular spastic paraplegia 20 (SPG20-Troyer syndrome).Antenatal diagnosisPrenatal diagnosis is possible when the disease-causing mutation has been identified and genetic counselling should be offered to affected families.Management and treatmentTreatment is symptomatic aiming towards controlling the spasticity and should include physiotherapy, pharmacotherapy and use of ankle-foot orthoses.PrognosisMost patients become wheelchair-bound by the 5th decade of life. Death generally occurs during the sixth decade but survival into the seventies has been reported.Visit the Orphanet disease page for more resources. Last updated: 6/17/2008

MalaCards based summary : Spastic Ataxia, Charlevoix-Saguenay Type, also known as autosomal recessive spastic ataxia of charlevoix-saguenay, is related to spinocerebellar ataxia 31 and refsum disease, classic, and has symptoms including scanning speech, nystagmus and intellectual disability. An important gene associated with Spastic Ataxia, Charlevoix-Saguenay Type is SACS (Sacsin Molecular Chaperone). Affiliated tissues include heart, eye and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy (summary by Baets et al., 2010). (270550)

UniProtKB/Swiss-Prot : 71 Spastic ataxia Charlevoix-Saguenay type: A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.

Genetics Home Reference : 24 Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and speech difficulties (dysarthria). Other problems may include deformities of the fingers and feet, reduced sensation and weakness in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), and less commonly, leaks in one of the valves that control blood flow through the heart (mitral valve prolapse). An unsteady gait is the first symptom of ARSACS. It usually appears between the age of 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over the years, with increased spasticity and ataxia of the arms and legs. In some cases spasticity disappears, but this apparent improvement is thought to be due to degeneration of nerves in the arms and legs. Most affected individuals require a wheelchair by the time they are in their thirties or forties.

GeneReviews: NBK1255

Related Diseases for Spastic Ataxia, Charlevoix-Saguenay Type

Diseases related to Spastic Ataxia, Charlevoix-Saguenay Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 397)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 31 31.6 SACS SETX
2 refsum disease, classic 31.5 SACS TTPA
3 cerebellar disease 31.2 APTX SACS SETX
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 30.7 APTX SACS SETX TTPA
5 vitamin e, familial isolated deficiency of 30.2 APTX FXN SACS SETX TTPA
6 spinocerebellar ataxia, autosomal recessive 1 30.1 APTX FXN SACS SETX TTPA
7 aceruloplasminemia 29.9 APTX FXN SACS SETX TTPA
8 endolymphatic sac tumor 12.2
9 testicular yolk sac tumor 12.1
10 vaginal yolk sac tumor 12.1
11 yolk sac tumor of central nervous system 12.0
12 pineal region yolk sac tumor 11.9
13 endodermal sinus tumor 11.9
14 glandular pattern ovarian yolk sac tumor 11.9
15 macrocystic pattern testicular yolk sac tumor 11.9
16 solid pattern testicular yolk sac tumor 11.9
17 glandular-alveolar pattern testicular yolk sac tumor 11.9
18 myxomatous pattern testicular yolk sac tumor 11.9
19 papillary pattern testicular yolk sac tumor 11.9
20 enteric pattern testicular yolk sac tumor 11.9
21 reticular pattern testicular yolk sac tumor 11.9
22 stenosis of lacrimal sac 11.8
23 hepatoid pattern ovarian yolk sac tumor 11.8
24 polyvesicular vitelline pattern ovarian yolk sac tumor 11.8
25 endodermal sinus pattern testicular yolk sac tumor 11.8
26 polyvesicular vitelline pattern testicular yolk sac tumor 11.8
27 hepatoid pattern testicular yolk sac tumor 11.8
28 spastic ataxia 11.7
29 testicular germ cell tumor 11.6
30 spasticity 11.5
31 neuropathy 11.5
32 von hippel-lindau syndrome 11.3
33 cardiac tamponade 11.2
34 hemopericardium 11.2
35 enterocele 11.2
36 encephalocele 11.2
37 ovarian cyst 11.2
38 polyhydramnios 11.2
39 meningoencephalocele 11.2
40 agenesis of the corpus callosum with peripheral neuropathy 11.1
41 mucoepidermoid carcinoma 11.1
42 myelomeningocele 11.0
43 omphalocele 11.0
44 neural tube defects 11.0
45 meningocele 11.0
46 cystic lymphangioma 11.0
47 mitochondrial dna depletion syndrome 7 11.0
48 kearns-sayre syndrome 11.0
49 spastic paraplegia 57, autosomal recessive 11.0
50 hereditary spastic paraplegia 11.0

Graphical network of the top 20 diseases related to Spastic Ataxia, Charlevoix-Saguenay Type:



Diseases related to Spastic Ataxia, Charlevoix-Saguenay Type

Symptoms & Phenotypes for Spastic Ataxia, Charlevoix-Saguenay Type

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
scanning speech
spasticity
dysarthria
hyperreflexia
dysmetria
more
Skeletal Feet:
pes cavus
hammertoes

Neurologic Peripheral Nervous System:
loss of large myelinated fibers
decreased sensory nerve conduction velocities (ncv)
distal sensory loss, especially vibratory sense
decreased motor ncv

Muscle Soft Tissue:
distal muscle weakness due to peripheral neuropathy

Head And Neck Eyes:
nystagmus
impaired smooth pursuit
retinal striation
hypermyelinated retinal fibers

Genitourinary Bladder:
urinary urgency

Skeletal Hands:
swan neck-like deformities of the fingers


Clinical features from OMIM:

270550

Human phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 scanning speech 31 HP:0002168
2 nystagmus 31 HP:0000639
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 dysarthria 31 HP:0001260
6 hyperreflexia 31 HP:0001347
7 decreased nerve conduction velocity 31 HP:0000762
8 babinski sign 31 HP:0003487
9 dysmetria 31 HP:0001310
10 pes cavus 31 HP:0001761
11 falls 31 HP:0002527
12 decreased motor nerve conduction velocity 31 HP:0003431
13 hammertoe 31 HP:0001765
14 distal muscle weakness 31 HP:0002460
15 distal sensory impairment 31 HP:0002936
16 distal amyotrophy 31 HP:0003693
17 spastic ataxia 31 HP:0002497
18 urinary urgency 31 HP:0000012
19 impaired smooth pursuit 31 HP:0007772
20 cerebellar vermis atrophy 31 HP:0006855
21 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387
22 decreased sensory nerve conduction velocity 31 HP:0003448
23 impaired vibration sensation in the lower limbs 31 HP:0002166
24 absent achilles reflex 31 HP:0003438
25 swan neck-like deformities of the fingers 31 HP:0006150
26 loss of purkinje cells in the cerebellar vermis 31 HP:0007001
27 progressive gait ataxia 31 HP:0007240
28 progressive truncal ataxia 31 HP:0007221
29 hypermyelinated retinal nerve fibers 31 HP:0007922

UMLS symptoms related to Spastic Ataxia, Charlevoix-Saguenay Type:


scanning speech, urgency of micturition, muscle spasticity

GenomeRNAi Phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type according to GeneCards Suite gene sharing:

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.44 SACS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.44 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.44 SACS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.44 SACS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.44 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.44 TTPA FXN SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.44 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.44 TTPA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.44 FXN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.44 SACS

Drugs & Therapeutics for Spastic Ataxia, Charlevoix-Saguenay Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spastic Ataxia, Charlevoix-Saguenay Type

Genetic Tests for Spastic Ataxia, Charlevoix-Saguenay Type

Genetic tests related to Spastic Ataxia, Charlevoix-Saguenay Type:

# Genetic test Affiliating Genes
1 Spastic Ataxia Charlevoix-Saguenay Type 28 SACS

Anatomical Context for Spastic Ataxia, Charlevoix-Saguenay Type

MalaCards organs/tissues related to Spastic Ataxia, Charlevoix-Saguenay Type:

38
Heart, Eye, Spinal Cord, Retina

Publications for Spastic Ataxia, Charlevoix-Saguenay Type

Articles related to Spastic Ataxia, Charlevoix-Saguenay Type:

(show all 45)
# Title Authors Year
1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771 )
2017
2
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401 )
2017
3
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676 )
2017
4
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29075231 )
2017
5
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446 )
2017
6
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592 )
2017
7
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082 )
2016
8
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452 )
2016
9
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. ( 27980752 )
2016
10
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042 )
2015
11
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561 )
2015
12
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
13
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509 )
2015
14
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984 )
2015
15
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547 )
2014
16
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835 )
2014
17
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. ( 23699708 )
2013
18
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. ( 23497566 )
2013
19
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23598833 )
2013
20
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23785480 )
2013
21
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing. ( 23229046 )
2012
22
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 22209141 )
2012
23
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22307627 )
2012
24
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. ( 22441213 )
2012
25
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22892508 )
2012
26
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. ( 23229047 )
2012
27
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21597885 )
2011
28
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. ( 21745802 )
2011
29
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. ( 21625752 )
2011
30
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21410841 )
2011
31
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 21507954 )
2011
32
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. ( 21450511 )
2011
33
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 19451537 )
2009
34
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. ( 18484239 )
2008
35
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. ( 18439928 )
2008
36
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. ( 17846221 )
2007
37
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 16421146 )
2006
38
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. ( 14718707 )
2004
39
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. ( 15156359 )
2004
40
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 11788093 )
2001
41
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. ( 10610707 )
1999
42
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. ( 10053011 )
1999
43
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 8421971 )
1993
44
Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 487308 )
1979
45
Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 487309 )
1979

Variations for Spastic Ataxia, Charlevoix-Saguenay Type

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia, Charlevoix-Saguenay Type:

71 (show all 24)
# Symbol AA change Variation ID SNP ID
1 SACS p.Asp168Tyr VAR_064801
2 SACS p.Thr201Lys VAR_064802
3 SACS p.Leu308Phe VAR_064803
4 SACS p.Leu556Pro VAR_064804
5 SACS p.Leu802Pro VAR_064805
6 SACS p.Cys991Arg VAR_064806
7 SACS p.Phe1054Ser VAR_064807 rs137853019
8 SACS p.Met1311Lys VAR_064808
9 SACS p.Arg1575Pro VAR_064809
10 SACS p.His1587Arg VAR_064810
11 SACS p.Trp1946Arg VAR_064811 rs137853017
12 SACS p.Arg2703Cys VAR_064813 rs780332615
13 SACS p.Pro2798Gln VAR_064814 rs140551762
14 SACS p.Trp3248Arg VAR_064816 rs137853018
15 SACS p.Leu3481Pro VAR_064817
16 SACS p.Arg3636Gln VAR_064818 rs281865119
17 SACS p.Leu3645Pro VAR_064819
18 SACS p.Pro3652Thr VAR_064820 rs201505036
19 SACS p.Phe3653Ser VAR_064821
20 SACS p.Ala4074Pro VAR_064822 rs137853016
21 SACS p.Arg4331Gln VAR_064823 rs773009784
22 SACS p.Glu4343Lys VAR_064824 rs749383532
23 SACS p.Lys4508Thr VAR_064825
24 SACS p.Asn4549Asp VAR_064826

ClinVar genetic disease variations for Spastic Ataxia, Charlevoix-Saguenay Type:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 SACS NM_014363.5(SACS): c.10907G> A (p.Arg3636Gln) single nucleotide variant Pathogenic rs281865119 GRCh37 Chromosome 13, 23907108: 23907108
2 SACS NM_014363.5(SACS): c.12160C> T (p.Gln4054Ter) single nucleotide variant Pathogenic/Likely pathogenic rs281865120 GRCh37 Chromosome 13, 23905855: 23905855
3 SACS NM_014363.5(SACS): c.3589T> C (p.Ser1197Pro) single nucleotide variant Likely pathogenic rs727503785 GRCh37 Chromosome 13, 23914426: 23914426
4 SACS NM_014363.5(SACS): c.12973C> T (p.Arg4325Ter) single nucleotide variant Likely pathogenic rs762947018 GRCh37 Chromosome 13, 23905042: 23905042
5 SACS NM_014363.5(SACS): c.12851_12854delAGAG (p.Glu4284Alafs) deletion Likely pathogenic rs786204628 GRCh37 Chromosome 13, 23905161: 23905164
6 SACS NM_014363.5(SACS): c.12232C> T (p.Arg4078Ter) single nucleotide variant Likely pathogenic rs141315518 GRCh37 Chromosome 13, 23905783: 23905783
7 SACS NM_014363.5(SACS): c.10466_10467delCT (p.Ser3489Leufs) deletion Likely pathogenic rs786204416 GRCh38 Chromosome 13, 23333409: 23333410
8 SACS NM_014363.5(SACS): c.7276C> T (p.Arg2426Ter) single nucleotide variant Likely pathogenic rs786204750 GRCh37 Chromosome 13, 23910739: 23910739
9 SACS NM_014363.5(SACS): c.3328dupA (p.Ile1110Asnfs) duplication Likely pathogenic rs773840580 GRCh37 Chromosome 13, 23914687: 23914687
10 SACS NM_014363.5(SACS): c.2439_2440delAT (p.Val815Glyfs) deletion Likely pathogenic rs775059063 GRCh37 Chromosome 13, 23915575: 23915576
11 SACS NM_014363.5(SACS): c.8844delT (p.Ile2949Phefs) deletion Pathogenic rs281865117 GRCh37 Chromosome 13, 23909171: 23909171
12 SACS NM_014363.5(SACS): c.7504C> T (p.Arg2502Ter) single nucleotide variant Pathogenic rs281865118 GRCh37 Chromosome 13, 23910511: 23910511
13 SACS NM_014363.5(SACS): c.12220G> C (p.Ala4074Pro) single nucleotide variant Pathogenic rs137853016 GRCh37 Chromosome 13, 23905795: 23905795
14 SACS SACS, 1-BP DEL, 1411T deletion Pathogenic
15 SACS SACS, 1-BP INS, 1155A insertion Pathogenic
16 SACS NM_014363.5(SACS): c.5836T> C (p.Trp1946Arg) single nucleotide variant Pathogenic rs137853017 GRCh37 Chromosome 13, 23912179: 23912179
17 SACS NM_014363.5(SACS): c.4033dupC (p.Gln1345Profs) duplication Pathogenic rs606231163 GRCh38 Chromosome 13, 23339843: 23339843
18 SACS NM_014363.5(SACS): c.9742T> C (p.Trp3248Arg) single nucleotide variant Pathogenic rs137853018 GRCh37 Chromosome 13, 23908273: 23908273
19 SACS NM_014363.5(SACS): c.3161T> C (p.Phe1054Ser) single nucleotide variant Pathogenic rs137853019 GRCh37 Chromosome 13, 23914854: 23914854
20 SACS SACS, 10-BP DEL, NT32627 deletion Pathogenic
21 SACS SACS, 1-BP DEL, 31760T deletion Pathogenic
22 SACS NM_014363.5(SACS): c.13527dupA (p.Glu4510Argfs) duplication Pathogenic rs797045936 GRCh37 Chromosome 13, 23904488: 23904488
23 SACS NM_014363.5(SACS): c.10906C> T (p.Arg3636Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780247476 GRCh37 Chromosome 13, 23907109: 23907109
24 SACS NM_014363.5(SACS): c.1919_1920delAC (p.His640Profs) deletion Pathogenic rs797045937 GRCh38 Chromosome 13, 23354692: 23354693
25 SACS NM_014363.5(SACS): c.8848_8849dupCA (p.Val2951Metfs) duplication Likely pathogenic rs797044608 GRCh37 Chromosome 13, 23909166: 23909167
26 SACS NM_014363.5(SACS): c.8542_8543delTT (p.Phe2848Profs) deletion Pathogenic rs876657721 GRCh37 Chromosome 13, 23909472: 23909473
27 SACS NM_014363.5(SACS): c.7641dupA (p.Glu2548Argfs) duplication Pathogenic rs876657720 GRCh37 Chromosome 13, 23910374: 23910374
28 SACS NM_014363.5(SACS): c.9508C> T (p.Arg3170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202199411 GRCh37 Chromosome 13, 23908507: 23908507
29 SACS NM_014363.5(SACS): c.12028C> T (p.Gln4010Ter) single nucleotide variant Pathogenic rs148297332 GRCh37 Chromosome 13, 23905987: 23905987
30 SACS NM_014363.5(SACS): c.13283dupA (p.Tyr4428Terfs) duplication Likely pathogenic rs1057517123 GRCh37 Chromosome 13, 23904732: 23904732
31 SACS NM_014363.5(SACS): c.13132C> T (p.Arg4378Ter) single nucleotide variant Likely pathogenic rs747868017 GRCh38 Chromosome 13, 23330744: 23330744
32 SACS NM_014363.5(SACS): c.12923_12927delAAGAA (p.Lys4308Serfs) deletion Likely pathogenic rs1057517294 GRCh37 Chromosome 13, 23905088: 23905092
33 SACS NM_014363.5(SACS): c.12540delA (p.Glu4180Aspfs) deletion Likely pathogenic rs1057516347 GRCh38 Chromosome 13, 23331336: 23331336
34 SACS NM_014363.5(SACS): c.11731delA (p.Ser3911Alafs) deletion Likely pathogenic rs1057517232 GRCh38 Chromosome 13, 23332145: 23332145
35 SACS NM_014363.5(SACS): c.11374C> T (p.Arg3792Ter) single nucleotide variant Likely pathogenic rs565203731 GRCh37 Chromosome 13, 23906641: 23906641
36 SACS NM_014363.5(SACS): c.11247_11250delCAAT (p.Asn3750Thrfs) deletion Likely pathogenic rs753205260 GRCh37 Chromosome 13, 23906765: 23906768
37 SACS NM_014363.5(SACS): c.11185C> T (p.Gln3729Ter) single nucleotide variant Likely pathogenic rs1057516398 GRCh37 Chromosome 13, 23906830: 23906830
38 SACS NM_014363.5(SACS): c.11081dupG (p.Cys3694Trpfs) duplication Likely pathogenic rs1057516856 GRCh37 Chromosome 13, 23906934: 23906934
39 SACS NM_014363.5(SACS): c.11042dupA (p.Phe3682Valfs) duplication Likely pathogenic rs756597098 GRCh37 Chromosome 13, 23906973: 23906973
40 SACS NM_014363.5(SACS): c.10864C> T (p.Gln3622Ter) single nucleotide variant Likely pathogenic rs1057516578 GRCh37 Chromosome 13, 23907151: 23907151
41 SACS NM_014363.5(SACS): c.10854delA (p.Glu3619Lysfs) deletion Likely pathogenic rs1057516773 GRCh37 Chromosome 13, 23907161: 23907161
42 SACS NM_014363.5(SACS): c.10804C> T (p.Gln3602Ter) single nucleotide variant Likely pathogenic rs1057517002 GRCh37 Chromosome 13, 23907211: 23907211
43 SACS NM_014363.5(SACS): c.10686_10689delCTTT (p.Phe3562Leufs) deletion Likely pathogenic rs779338945 GRCh37 Chromosome 13, 23907326: 23907329
44 SACS NM_014363.5(SACS): c.10497C> A (p.Tyr3499Ter) single nucleotide variant Likely pathogenic rs755186798 GRCh37 Chromosome 13, 23907518: 23907518
45 SACS NM_014363.5(SACS): c.10136T> G (p.Leu3379Ter) single nucleotide variant Likely pathogenic rs1057517250 GRCh38 Chromosome 13, 23333740: 23333740
46 SACS NM_014363.5(SACS): c.10090delG (p.Ala3364Leufs) deletion Likely pathogenic rs1057517383 GRCh37 Chromosome 13, 23907925: 23907925
47 SACS NM_014363.5(SACS): c.9818_9831delATACTCTAAAAGAC (p.Asp3273Valfs) deletion Likely pathogenic rs1057516464 GRCh38 Chromosome 13, 23334045: 23334058
48 SACS NM_014363.5(SACS): c.9390_9391delTA (p.His3130Glnfs) deletion Likely pathogenic rs1057517349 GRCh38 Chromosome 13, 23334485: 23334486
49 SACS NM_014363.5(SACS): c.9377dupT (p.Leu3128Thrfs) duplication Likely pathogenic rs1057516875 GRCh38 Chromosome 13, 23334499: 23334499
50 SACS NM_014363.5(SACS): c.9088_9089dupTT (p.Leu3030Phefs) duplication Likely pathogenic rs1057517060 GRCh37 Chromosome 13, 23908926: 23908927

Copy number variations for Spastic Ataxia, Charlevoix-Saguenay Type from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 75706 13 23300000 25500000 Deletion SACS Spastic ataxia of charlevoix-saguenay

Expression for Spastic Ataxia, Charlevoix-Saguenay Type

Search GEO for disease gene expression data for Spastic Ataxia, Charlevoix-Saguenay Type.

Pathways for Spastic Ataxia, Charlevoix-Saguenay Type

GO Terms for Spastic Ataxia, Charlevoix-Saguenay Type

Biological processes related to Spastic Ataxia, Charlevoix-Saguenay Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hydrogen peroxide GO:0070301 8.62 FXN SETX

Sources for Spastic Ataxia, Charlevoix-Saguenay Type

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