SCAR6
MCID: SPN313
MIFTS: 27

Spinocerebellar Ataxia, Autosomal Recessive 6 (SCAR6)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 6

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 6:

Name: Spinocerebellar Ataxia, Autosomal Recessive 6 57 13 44 70
Scar6 57 12 20 58
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia 12 58
Autosomal Recessive Spinocerebellar Ataxia Type 6 12 58
Autosomal Recessive Spinocerebellar Ataxia 6 12 15
Norwegian Infantile Onset Ataxia 57 20
Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive 57
Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive 20
Spinocerebellar Ataxia Autosomal Recessive 6 20

Characteristics:

Orphanet epidemiological data:

58
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
nonprogressive
onset at birth

Inheritance:
autosomal recessive


HPO:

31
spinocerebellar ataxia, autosomal recessive 6:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111617
OMIM® 57 608029
OMIM Phenotypic Series 57 PS213200
MeSH 44 C537312
ICD10 via Orphanet 33 G11.0
UMLS via Orphanet 71 C1842676
Orphanet 58 ORPHA284332
MedGen 41 C1842676
UMLS 70 C1842676

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 6

Disease Ontology : 12 An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 6, is also known as scar6, and has symptoms including gait ataxia, clumsiness and action tremor. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 6 is CLA3 (Cerebellar Ataxia 3 (Cerebellar Parenchyma Disorder 1)), and among its related pathways/superpathways is Autophagy - animal. Related phenotypes are progressive cerebellar ataxia and spasticity

More information from OMIM: 608029 PS213200

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 6

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 6

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 6:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
7 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
10 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
11 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
12 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
13 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
14 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
15 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
16 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
17 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
18 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
19 ataxia 31 HP:0001251
20 motor delay 31 HP:0001270
21 gait ataxia 31 HP:0002066
22 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysmetria
gait ataxia
clumsiness
intention tremor
more
Growth Height:
short stature

Skeletal Feet:
pes planus

Clinical features from OMIM®:

608029 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 6:


gait ataxia; clumsiness; action tremor; cerebellar signs

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 6

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 6

Cochrane evidence based reviews: spinocerebellar ataxia, autosomal recessive 6

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 6

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 6

Publications for Spinocerebellar Ataxia, Autosomal Recessive 6

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 6:

# Title Authors PMID Year
1
Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. 57
12811539 2003
2
Autosomal recessive non-progressive ataxia with an early childhood debut. 57
4003033 1985
3
Start codon targeted (SCoT) polymorphism in toxic and non-toxic accessions of Jatropha curcas L. and development of a codominant SCAR marker. 61
23602106 2013
4
Deletion of the Chd6 exon 12 affects motor coordination. 61
20111866 2010
5
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13. 61
17238154 2007

Variations for Spinocerebellar Ataxia, Autosomal Recessive 6

Expression for Spinocerebellar Ataxia, Autosomal Recessive 6

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 6.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 6

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.76 TP53INP2 RAB1A

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 6

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.62 TPP1 RAB1A

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagosome assembly GO:0000045 8.96 TP53INP2 RAB1A
2 IRE1-mediated unfolded protein response GO:0036498 8.62 TPP1 SYVN1

Sources for Spinocerebellar Ataxia, Autosomal Recessive 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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