SCAR3
MCID: SPN295
MIFTS: 37

Spinocerebellar Ataxia, Autosomal Recessive 3 (SCAR3)

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 3

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 3:

Name: Spinocerebellar Ataxia, Autosomal Recessive 3 57 13 44 70
Scar3 57 12 20 58
Scabd 57 12 20 58
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome 12 20 58
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome 12 20 58
Autosomal Recessive Spinocerebellar Ataxia Type 3 12 20 58
Spinocerebellar Ataxia with Blindness and Deafness 57 20
Autosomal Recessive Spinocerebellar Ataxia 3 12 15
Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome 20
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness 20
Spinocerebellar Ataxia with Blindness and Deafness; Scabd 57
Spinocerebellar Ataxia Autosomal Recessive 3 20

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
spinocerebellar ataxia, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111612
OMIM® 57 271250
OMIM Phenotypic Series 57 PS213200
MeSH 44 C537309
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 71 C1849094
Orphanet 58 ORPHA95433
MedGen 41 C1849094
UMLS 70 C1849094

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 3

Disease Ontology : 12 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 3, also known as scar3, is related to spinocerebellar ataxia, autosomal recessive 4 and brown-vialetto-van laere syndrome 1. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 3 is PEX6 (Peroxisomal Biogenesis Factor 6), and among its related pathways/superpathways are Signaling by Rho GTPases and Salmonella infection (KEGG). Affiliated tissues include bone, and related phenotypes are nystagmus and hearing impairment

More information from OMIM: 271250 PS213200

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 3

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

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 4 9.9 ZNF592 NCKAP1
2 brown-vialetto-van laere syndrome 1 9.9
3 ataxia and polyneuropathy, adult-onset 9.9
4 peroxisome biogenesis disorder 1b 9.9
5 yemenite deaf-blind hypopigmentation syndrome 9.9
6 branchiootic syndrome 1 9.9
7 brown-vialetto-van laere syndrome 2 9.9
8 brown-vialetto-van laere syndrome 9.9
9 hereditary ataxia 9.9
10 autosomal dominant cerebellar ataxia 9.9
11 zellweger spectrum disorder 9.9
12 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.8 WASL WASF1 WAS
13 carnitine palmitoyltransferase i deficiency 9.7 BLOC1S1 ACADS
14 spinocerebellar ataxia, x-linked 2 9.7 SORBS3 ACADS
15 x-linked cerebellar ataxia 9.7 SORBS3 ACADS
16 organic acidemia 9.6 BLOC1S1 ACADS
17 wiskott-aldrich syndrome 9.5 WASL WASF3 WASF2 WASF1 WAS

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 3:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 3

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 3

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 3:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
2 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
3 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
4 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
5 conjunctival telangiectasia 58 31 frequent (33%) Frequent (79-30%) HP:0000524
6 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
7 elevated alpha-fetoprotein 58 31 frequent (33%) Frequent (79-30%) HP:0006254
8 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
9 proximal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007126
10 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
11 mildly elevated creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0008180
12 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
13 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
14 cochlear degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0005102
15 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
16 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
17 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
18 spinocerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007263
19 ataxia 31 HP:0001251
20 oculomotor apraxia 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
blindness
optic degeneration

Neurologic Central Nervous System:
spinocerebellar ataxia

Head And Neck Ears:
cochlear degeneration
deafness

Clinical features from OMIM®:

271250 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 3

Cochrane evidence based reviews: spinocerebellar ataxia, autosomal recessive 3

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 3

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 3

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 3:

40
Bone

Publications for Spinocerebellar Ataxia, Autosomal Recessive 3

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 3:

# Title Authors PMID Year
1
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. 57
11175288 2000
2
Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects. 57
4154794 1974
3
Optic cochleovestibular degenerations in hereditary ataxias. II. Temporal bone pathology in two cases of Friedreich's ataxia with vestibulo-cochlear disorders. 57
4434170 1974
4
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). 61
26669662 2016
5
The conservation and application of three hypothetical protein coding gene for direct detection of Mycobacterium tuberculosis in sputum specimens. 61
24058507 2013
6
Patterns of trichothecene production, genetic variability, and virulence to wheat of Fusarium graminearum from smallholder farms in Nepal. 61
15453711 2004
7
The development of ISSR-derived SCAR markers around the SEASONAL FLOWERING LOCUS (SFL) in Fragaria vesca. 61
15292991 2004
8
Development of SCAR markers for the DNA-based detection of the Asian long-horned beetle, Anoplophora glabripennis (Motschulsky). 61
12655607 2003
9
Involvement of the Arp2/3 complex and Scar2 in Golgi polarity in scratch wound models. 61
12589062 2003

Variations for Spinocerebellar Ataxia, Autosomal Recessive 3

Expression for Spinocerebellar Ataxia, Autosomal Recessive 3

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 3.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 3

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 WASL WASF3 WASF2 WASF1 WAS NCKAP1
2
Show member pathways
12.51 WASL WASF3 WASF2 WASF1 NCKAP1 BRK1
3 12.45 WASL WASF2 WASF1 WAS NCKAP1 BRK1
4 12.31 WASL WASF3 WASF2 WAS
5
Show member pathways
12.21 WASL WASF2 WASF1 WAS NCKAP1 BRK1
6
Show member pathways
12.19 WASF3 WASF2 WASF1 WAS
7 12.03 WASF3 WASF2 WASF1 WAS
8 11.85 WASL WASF2 WAS
9 11.72 WASF3 WASF2 WASF1 WAS
10 11.66 WASL WASF2 NCKAP1 BRK1 ABI1
11 11.57 WASL WASF2 WASF1
12
Show member pathways
11.53 WASL WASF3 WASF2 WASF1 WAS NCKAP1
13 11.2 WASL WASF3 WASF2 WASF1 WAS
14 11.18 WASL WAS
15 11.16 NCKAP1 ABI1
16 11.15 WASF2 NCKAP1 ABI1
17 10.98 WASF1 WAS

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 3

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.87 WASL WASF3 WASF2 WAS NCKAP1 BRK1
2 cytoskeleton GO:0005856 9.76 WASL WASF3 WASF2 WASF1 WAS SORBS3
3 actin cytoskeleton GO:0015629 9.56 WASL WASF2 WASF1 WAS
4 lamellipodium GO:0030027 9.5 WASL WASF3 WASF2 WASF1 NCKAP1 BRK1
5 SCAR complex GO:0031209 9.1 WASF3 WASF2 WASF1 NCKAP1 BRK1 ABI1

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.8 WASL WAS SORBS3 BRK1
2 protein-containing complex assembly GO:0065003 9.78 WASL WASF3 WASF1 WAS
3 actin cytoskeleton organization GO:0030036 9.72 WASL WASF3 WASF2 WASF1 BRK1
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.67 WASF2 NCKAP1 BRK1 ABI1
5 positive regulation of lamellipodium assembly GO:0010592 9.63 WASF2 NCKAP1 BRK1
6 actin polymerization or depolymerization GO:0008154 9.61 WASL WAS ABI1
7 actin filament-based movement GO:0030048 9.58 WASL WASF2 WAS
8 lamellipodium assembly GO:0030032 9.56 WASF3 WASF2
9 actin filament polymerization GO:0030041 9.56 WASL WASF3 WASF1 WAS
10 negative regulation of stress fiber assembly GO:0051497 9.55 WASF2 WAS
11 regulation of actin polymerization or depolymerization GO:0008064 9.54 WAS BRK1
12 lamellipodium morphogenesis GO:0072673 9.52 WASF2 WASF1
13 modification of postsynaptic actin cytoskeleton GO:0098885 9.51 WASF3 WASF1
14 Rac protein signal transduction GO:0016601 9.46 WASF2 WASF1 NCKAP1 BRK1
15 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.43 WASL WASF2 WAS NCKAP1 BRK1 ABI1
16 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 9.17 WASL WASF3 WASF2 WASF1 WAS NCKAP1

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 9.56 WASF1 WAS NCKAP1 BRK1
2 actin binding GO:0003779 9.55 WASL WASF3 WASF2 WASF1 WAS
3 SH3 domain binding GO:0017124 9.5 WASF2 WAS ABI1
4 protein kinase A binding GO:0051018 9.4 WASF2 WASF1
5 GTPase regulator activity GO:0030695 9.37 WASL WAS
6 protein kinase A regulatory subunit binding GO:0034237 9.13 WASF3 WASF2 WASF1
7 Arp2/3 complex binding GO:0071933 8.8 WASF3 WASF2 WASF1

Sources for Spinocerebellar Ataxia, Autosomal Recessive 3

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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