MCID: SPN214
MIFTS: 40

Spinocerebellar Ataxia, Autosomal Recessive 10

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver 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 autosomal recessive cerebellar ataxia and cryoglobulinemia, familial mixed, and has symptoms including muscular fasciculation, ataxia, truncal and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 10 is ANO10 (Anoctamin 10), and among its related pathways/superpathways is Primary immunodeficiency. Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are progressive cerebellar ataxia and abnormal enzyme/coenzyme activity

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 16
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:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 10.3 ANO10 SYNE1
2 cryoglobulinemia, familial mixed 10.2 CD40LG IFNA2
3 hepatitis d 10.2 CD40LG IFNA2
4 penile cancer 10.1 IFNA2 SCN10A
5 bird fancier's lung 10.1 CD79A SYNE1
6 hepatitis a 10.1 CD40LG IFNA2
7 selective igg deficiency disease 10.0 CD40LG CD79A
8 c1q nephropathy 10.0 CD40LG CD79A
9 meningovascular neurosyphilis 10.0 CD40LG CD79A
10 alpha chain disease 10.0 CD40LG CD79A
11 brill-zinsser disease 10.0 CD40LG CD79A
12 exudative glomerulonephritis 10.0 CD40LG CD79A
13 cork-handlers' disease 10.0 CD40LG CD79A
14 salpingo-oophoritis 10.0 CD40LG CD79A
15 early yaws 10.0 CD40LG CD79A
16 ventilation pneumonitis 10.0 CD40LG CD79A
17 chronic interstitial cystitis 10.0 CD40LG CD79A
18 axillary adenitis 10.0 CD40LG CD79A
19 cryofibrinogenemia 10.0 CD40LG CD79A
20 trichostrongyloidiasis 10.0 CD40LG CD79A
21 subacute bacterial endocarditis 10.0 CD40LG CD79A
22 heterophyiasis 10.0 CD40LG CD79A
23 immunoglobulin g deficiency 10.0 CD40LG CD79A
24 orbital granuloma 10.0 CD40LG CD79A
25 transient hypogammaglobulinemia of infancy 10.0 CD40LG CD79A
26 hyperglobulinemic purpura 10.0 CD40LG CD79A
27 gastroduodenitis 10.0 CD40LG CD79A
28 bacterial conjunctivitis 10.0 CD40LG CD79A
29 heavy chain disease 10.0 CD40LG CD79A
30 ophthalmia neonatorum 10.0 CD40LG CD79A
31 immunoglobulin a deficiency 1 10.0 CD40LG CD79A
32 parotid disease 10.0 CD40LG CD79A
33 cerebral arteritis 10.0 CD40LG CD79A
34 selective immunoglobulin deficiency disease 10.0 CD40LG CD79A
35 geniculate herpes zoster 10.0 CD40LG CD79A
36 erythema elevatum diutinum 10.0 CD40LG CD79A
37 sporotrichosis 10.0 CD40LG CD79A
38 fallopian tube disease 10.0 CD40LG CD79A
39 hyperimmunoglobulin syndrome 10.0 CD40LG CD79A
40 congenital syphilis 10.0 CD40LG CD79A
41 polyclonal hypergammaglobulinemia 10.0 CD40LG CD79A
42 monoclonal paraproteinemia 10.0 CD40LG CD79A
43 salpingitis 10.0 CD40LG CD79A
44 ocular toxoplasmosis 10.0 CD40LG CD79A
45 dysgammaglobulinemia 10.0 CD40LG CD79A
46 congenital hypogammaglobulinemia 10.0 CD40LG CD79A
47 acute maxillary sinusitis 10.0 CD40LG CD79A
48 chronic polyneuropathy 10.0 CD40LG CD79A
49 parasitic ichthyosporea infectious disease 10.0 CD40LG CD79A
50 cd40 ligand deficiency 10.0 CD40LG CD79A

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

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 10:


muscular fasciculation, ataxia, truncal, gait ataxia

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, Spinal Cord, Cerebellum, Eye

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 26)
# 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.132dupA (p.Asp45Argfs) duplication Pathogenic rs540331226 GRCh37 Chromosome 3, 43647213: 43647213
10 ANO10 NM_018075.4(ANO10): c.132dupA (p.Asp45Argfs) duplication Pathogenic rs540331226 GRCh38 Chromosome 3, 43605721: 43605721
11 ANO10 NM_018075.4(ANO10): c.1843G> A (p.Asp615Asn) single nucleotide variant Likely pathogenic rs138000380 GRCh37 Chromosome 3, 43474174: 43474174
12 ANO10 NM_018075.4(ANO10): c.1843G> A (p.Asp615Asn) single nucleotide variant Likely pathogenic rs138000380 GRCh38 Chromosome 3, 43432682: 43432682
13 ANO10 NM_018075.4(ANO10): c.1144G> T (p.Glu382Ter) single nucleotide variant Pathogenic rs144272231 GRCh37 Chromosome 3, 43618202: 43618202
14 ANO10 NM_018075.4(ANO10): c.1144G> T (p.Glu382Ter) single nucleotide variant Pathogenic rs144272231 GRCh38 Chromosome 3, 43576710: 43576710
15 ANO10 NM_018075.4(ANO10): c.1669-2A> T single nucleotide variant Pathogenic rs797045240 GRCh37 Chromosome 3, 43591342: 43591342
16 ANO10 NM_018075.4(ANO10): c.1669-2A> T single nucleotide variant Pathogenic rs797045240 GRCh38 Chromosome 3, 43549850: 43549850
17 ANO10 NM_018075.4(ANO10): c.337+1G> A single nucleotide variant Pathogenic rs765592794 GRCh37 Chromosome 3, 43641875: 43641875
18 ANO10 NM_018075.4(ANO10): c.337+1G> A single nucleotide variant Pathogenic rs765592794 GRCh38 Chromosome 3, 43600383: 43600383
19 ANO10 NM_018075.4(ANO10): c.1293+9A> G single nucleotide variant Benign rs7616708 GRCh37 Chromosome 3, 43607136: 43607136
20 ANO10 NM_018075.4(ANO10): c.1293+9A> G single nucleotide variant Benign rs7616708 GRCh38 Chromosome 3, 43565644: 43565644
21 ANO10 NM_018075.4(ANO10): c.980A> G (p.Tyr327Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146569520 GRCh37 Chromosome 3, 43618366: 43618366
22 ANO10 NM_018075.4(ANO10): c.980A> G (p.Tyr327Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146569520 GRCh38 Chromosome 3, 43576874: 43576874
23 ANO10 NM_018075.4(ANO10): c.306C> A (p.Tyr102Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 43600415: 43600415
24 ANO10 NM_018075.4(ANO10): c.306C> A (p.Tyr102Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 43641907: 43641907
25 ANO10 NM_018075.4(ANO10): c.96delA (p.Glu33Asnfs) deletion Pathogenic rs758937084 GRCh37 Chromosome 3, 43647249: 43647249
26 ANO10 NM_018075.4(ANO10): c.96delA (p.Glu33Asnfs) deletion Pathogenic rs758937084 GRCh38 Chromosome 3, 43605757: 43605757

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

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

# Super pathways Score Top Affiliating Genes
1 10.19 CD40LG CD79A

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 B cell differentiation GO:0030183 9.13 CD40LG CD79A IFNA2
2 B cell proliferation GO:0042100 8.8 CD40LG CD79A IFNA2

Sources for Spinocerebellar Ataxia, Autosomal Recessive 10

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45 MESH via Orphanet
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