SCAR10
MCID: SPN214
MIFTS: 34

Spinocerebellar Ataxia, Autosomal Recessive 10 (SCAR10)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 10

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 10:

Name: Spinocerebellar Ataxia, Autosomal Recessive 10 57 29 13 6 73
Scar10 57 12 59 75
Autosomal Recessive Spinocerebellar Ataxia 10 12 15
Ataxia, Spinocerebellar, Autosomal Recessive, Type 10 40
Autosomal Recessive Spinocerebellar Ataxia Type 10 59
Adult-Onset Autosomal Recessive Cerebellar Ataxia 59
Spinocerebellar Ataxia, Autosomal Recessive, 10 75

Characteristics:

Orphanet epidemiological data:

59
adult-onset autosomal recessive cerebellar ataxia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in teens or young adulthood (range 13 to 45 years)
some patients may benefit from coenzyme q10 treatment


HPO:

32
spinocerebellar ataxia, autosomal recessive 10:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 10

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 10: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 10, also known as scar10, is related to penile disease and autosomal recessive cerebellar ataxia, and has symptoms including gait ataxia, ataxia, truncal and muscular fasciculation. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 10 is ANO10 (Anoctamin 10). Affiliated tissues include brain, eye and spinal cord, and related phenotypes are ptosis and diplopia

OMIM : 57 Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014). (613728)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 10

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, Autosomal Recessive 1
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 Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 penile disease 9.8 IFNA2 SCN10A
2 autosomal recessive cerebellar ataxia 9.8 ANO10 SYNE1
3 causalgia 9.8 IFNA2 SCN10A
4 penile cancer 9.8 IFNA2 SCN10A
5 aceruloplasminemia 9.8 ANO10 SYNE1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 10:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 10

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
hypermetric saccades
saccadic pursuit
tortuous conjunctival vessels (1 family)

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
limb ataxia
dysmetria
more
Muscle Soft Tissue:
mild atrophy of the proximal lower limbs
decreased coenzyme q10 levels in muscle


Clinical features from OMIM:

613728

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 10:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
3 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
4 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
5 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
6 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
7 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
8 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
9 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
10 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
11 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
12 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
13 fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0002380
14 macular degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0000608
15 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
16 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
17 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
18 horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000666
19 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
20 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
21 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
22 ankle clonus 59 32 frequent (33%) Frequent (79-30%) HP:0011448
23 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
24 abnormal enzyme/coenzyme activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0012379
25 dysmetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000641
26 downbeat nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0010545
27 tortuosity of conjunctival vessels 59 32 occasional (7.5%) Occasional (29-5%) HP:0000503
28 nystagmus 32 HP:0000639
29 intellectual disability 32 occasional (7.5%) HP:0001249
30 gait ataxia 32 HP:0002066
31 generalized seizures 59 Frequent (79-30%)
32 hypermetric saccades 32 HP:0007338
33 generalized-onset seizure 32 frequent (33%) HP:0002197

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 10:


gait ataxia, ataxia, truncal, muscular fasciculation

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 10

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 10

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 10

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 10:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 10 29 ANO10

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 10

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 10:

41
Brain, Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia, Autosomal Recessive 10

Variations for Spinocerebellar Ataxia, Autosomal Recessive 10

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 10:

75
# Symbol AA change Variation ID SNP ID
1 ANO10 p.Leu510Arg VAR_064888 rs387907089

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 10:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO10 NM_018075.4(ANO10): c.1529T> G (p.Leu510Arg) single nucleotide variant Pathogenic rs387907089 GRCh37 Chromosome 3, 43596909: 43596909
2 ANO10 NM_018075.4(ANO10): c.1529T> G (p.Leu510Arg) single nucleotide variant Pathogenic rs387907089 GRCh38 Chromosome 3, 43555417: 43555417
3 ANO10 NM_018075.4(ANO10): c.1150_1151delTT (p.Leu384Asnfs) deletion Pathogenic rs794726680 GRCh37 Chromosome 3, 43618195: 43618196
4 ANO10 NM_018075.4(ANO10): c.1150_1151delTT (p.Leu384Asnfs) deletion Pathogenic rs794726680 GRCh38 Chromosome 3, 43576703: 43576704
5 ANO10 NM_018075.4(ANO10): c.1476+1G> T single nucleotide variant Pathogenic rs761213683 GRCh37 Chromosome 3, 43602711: 43602711
6 ANO10 NM_018075.4(ANO10): c.1476+1G> T single nucleotide variant Pathogenic rs761213683 GRCh38 Chromosome 3, 43561219: 43561219
7 ANO10 NM_018075.4(ANO10): c.1604delT (p.Leu535Terfs) deletion Pathogenic rs794726681 GRCh37 Chromosome 3, 43596834: 43596834
8 ANO10 NM_018075.4(ANO10): c.1604delT (p.Leu535Terfs) deletion Pathogenic rs794726681 GRCh38 Chromosome 3, 43555342: 43555342
9 ANO10 NM_018075.4(ANO10): c.1066A> G (p.Ser356Gly) single nucleotide variant Benign/Likely benign rs56389778 GRCh37 Chromosome 3, 43618280: 43618280
10 ANO10 NM_018075.4(ANO10): c.1066A> G (p.Ser356Gly) single nucleotide variant Benign/Likely benign rs56389778 GRCh38 Chromosome 3, 43576788: 43576788
11 ANO10 NM_018075.4(ANO10): c.1385G> A (p.Arg462Gln) single nucleotide variant Benign rs3772165 GRCh37 Chromosome 3, 43602803: 43602803
12 ANO10 NM_018075.4(ANO10): c.1385G> A (p.Arg462Gln) single nucleotide variant Benign rs3772165 GRCh38 Chromosome 3, 43561311: 43561311
13 ANO10 NM_018075.4(ANO10): c.1682C> T (p.Thr561Met) single nucleotide variant Benign/Likely benign rs17409162 GRCh37 Chromosome 3, 43591327: 43591327
14 ANO10 NM_018075.4(ANO10): c.1682C> T (p.Thr561Met) single nucleotide variant Benign/Likely benign rs17409162 GRCh38 Chromosome 3, 43549835: 43549835
15 ANO10 NM_018075.4(ANO10): c.132dupA (p.Asp45Argfs) duplication Pathogenic rs540331226 GRCh37 Chromosome 3, 43647213: 43647213
16 ANO10 NM_018075.4(ANO10): c.132dupA (p.Asp45Argfs) duplication Pathogenic rs540331226 GRCh38 Chromosome 3, 43605721: 43605721
17 ANO10 NM_018075.4(ANO10): c.1843G> A (p.Asp615Asn) single nucleotide variant Likely pathogenic rs138000380 GRCh37 Chromosome 3, 43474174: 43474174
18 ANO10 NM_018075.4(ANO10): c.1843G> A (p.Asp615Asn) single nucleotide variant Likely pathogenic rs138000380 GRCh38 Chromosome 3, 43432682: 43432682
19 ANO10 NM_018075.4(ANO10): c.1144G> T (p.Glu382Ter) single nucleotide variant Pathogenic rs144272231 GRCh37 Chromosome 3, 43618202: 43618202
20 ANO10 NM_018075.4(ANO10): c.1144G> T (p.Glu382Ter) single nucleotide variant Pathogenic rs144272231 GRCh38 Chromosome 3, 43576710: 43576710
21 ANO10 NM_018075.4(ANO10): c.1669-2A> T single nucleotide variant Pathogenic rs797045240 GRCh37 Chromosome 3, 43591342: 43591342
22 ANO10 NM_018075.4(ANO10): c.1669-2A> T single nucleotide variant Pathogenic rs797045240 GRCh38 Chromosome 3, 43549850: 43549850
23 ANO10 NM_018075.4(ANO10): c.337+1G> A single nucleotide variant Pathogenic rs765592794 GRCh37 Chromosome 3, 43641875: 43641875
24 ANO10 NM_018075.4(ANO10): c.337+1G> A single nucleotide variant Pathogenic rs765592794 GRCh38 Chromosome 3, 43600383: 43600383
25 ANO10 NM_018075.4(ANO10): c.1293+9A> G single nucleotide variant Benign rs7616708 GRCh37 Chromosome 3, 43607136: 43607136
26 ANO10 NM_018075.4(ANO10): c.1293+9A> G single nucleotide variant Benign rs7616708 GRCh38 Chromosome 3, 43565644: 43565644
27 ANO10 NM_018075.4(ANO10): c.980A> G (p.Tyr327Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146569520 GRCh37 Chromosome 3, 43618366: 43618366
28 ANO10 NM_018075.4(ANO10): c.980A> G (p.Tyr327Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146569520 GRCh38 Chromosome 3, 43576874: 43576874
29 ANO10 NM_018075.4(ANO10): c.306C> A (p.Tyr102Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 43600415: 43600415
30 ANO10 NM_018075.4(ANO10): c.306C> A (p.Tyr102Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 43641907: 43641907
31 ANO10 NM_018075.4(ANO10): c.96delA (p.Glu33Asnfs) deletion Pathogenic rs758937084 GRCh38 Chromosome 3, 43605757: 43605757
32 ANO10 NM_018075.4(ANO10): c.96delA (p.Glu33Asnfs) deletion Pathogenic rs758937084 GRCh37 Chromosome 3, 43647249: 43647249

Expression for Spinocerebellar Ataxia, Autosomal Recessive 10

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 10.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 10

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 10

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 8.62 ANO10 SCN10A

Sources for Spinocerebellar Ataxia, Autosomal Recessive 10

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