MCID: SPN096
MIFTS: 30

Spinocerebellar Ataxia 21

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

Aliases & Classifications for Spinocerebellar Ataxia 21

MalaCards integrated aliases for Spinocerebellar Ataxia 21:

Name: Spinocerebellar Ataxia 21 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 21 12 53 59 15
Sca21 57 53 59 75
Spinocerebellar Ataxia 21 with Mental Retardation and Severe Cognitive Impairment 75
Ataxia, Spinocerebellar, Type 21 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 21
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age of onset (range 1 to 30 years)


HPO:

32
spinocerebellar ataxia 21:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 21

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98773Disease definitionSpinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.EpidemiologyPrevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date.Clinical descriptionMean age of onset is 17.4 years and is relatively early compared to most type I ADCAs. Individuals in successive generations tend to have earlier ages of onset. Parkinsonism was not responsive to L-dopa and magnetic resonance imaging (MRI) revealed cerebellar and brainstem atrophy.EtiologySCA21 maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified.PrognosisThere is insufficient clinical data to draw conclusions concerning prognosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 21, also known as spinocerebellar ataxia type 21, is related to spinocerebellar ataxia, autosomal recessive 21 and autosomal dominant cerebellar ataxia, and has symptoms including cerebellar ataxia, tremor and cogwheel rigidity. An important gene associated with Spinocerebellar Ataxia 21 is TMEM240 (Transmembrane Protein 240). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are gait ataxia and abnormality of extrapyramidal motor function

OMIM : 57 Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (607454)

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 21: A form of spinocerebellar ataxia, 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. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients.

Related Diseases for Spinocerebellar Ataxia 21

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 21 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 21 11.3
2 autosomal dominant cerebellar ataxia 9.9

Symptoms & Phenotypes for Spinocerebellar Ataxia 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
slow saccades
microsaccadic pursuit
square wave jerks

Neurologic Behavioral Psychiatric Manifestations:
impulsivity
apathy
executive dysfunction
aggression

Neurologic Central Nervous System:
dysarthria
tremor
cognitive impairment
gait ataxia
limb ataxia
more

Clinical features from OMIM:

607454

Human phenotypes related to Spinocerebellar Ataxia 21:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
2 abnormality of extrapyramidal motor function 59 32 hallmark (90%) Very frequent (99-80%) HP:0002071
3 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
4 intermittent microsaccadic pursuits 59 32 hallmark (90%) Very frequent (99-80%) HP:0007944
5 nystagmus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000639
6 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
7 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
8 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
9 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
10 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
11 akinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002304
12 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
13 dysgraphia 59 32 frequent (33%) Frequent (79-30%) HP:0010526
14 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
15 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
16 slow saccadic eye movements 32 HP:0000514
17 aggressive behavior 32 HP:0000718
18 apathy 32 HP:0000741
19 global developmental delay 32 HP:0001263
20 hyporeflexia 32 HP:0001265
21 cerebellar atrophy 32 HP:0001272
22 parkinsonism 32 HP:0001300
23 limb ataxia 32 HP:0002070
24 scanning speech 32 HP:0002168
25 postural tremor 32 HP:0002174
26 cogwheel rigidity 32 HP:0002396
27 microsaccadic pursuit 32 HP:0007792
28 impulsivity 32 HP:0100710

UMLS symptoms related to Spinocerebellar Ataxia 21:


cerebellar ataxia, tremor, cogwheel rigidity, abnormality of extrapyramidal motor function, static tremor, scanning speech, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 21

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 Spinocerebellar Ataxia 21

Genetic Tests for Spinocerebellar Ataxia 21

Genetic tests related to Spinocerebellar Ataxia 21:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 21 29 TMEM240

Anatomical Context for Spinocerebellar Ataxia 21

MalaCards organs/tissues related to Spinocerebellar Ataxia 21:

41
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 21

Articles related to Spinocerebellar Ataxia 21:

# Title Authors Year
1
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. ( 25070513 )
2014

Variations for Spinocerebellar Ataxia 21

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 21:

75
# Symbol AA change Variation ID SNP ID
1 TMEM240 p.Thr80Met VAR_071906 rs606231454
2 TMEM240 p.Arg116Cys VAR_071907 rs606231453
3 TMEM240 p.Glu149Lys VAR_071908 rs546291208
4 TMEM240 p.Pro170Leu VAR_071909 rs606231451
5 TMEM240 p.Arg171Trp VAR_071910 rs606231455

ClinVar genetic disease variations for Spinocerebellar Ataxia 21:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM240 NM_001114748.1(TMEM240): c.509C> T (p.Pro170Leu) single nucleotide variant Pathogenic/Likely pathogenic rs606231451 GRCh38 Chromosome 1, 1535372: 1535372
2 TMEM240 NM_001114748.1(TMEM240): c.509C> T (p.Pro170Leu) single nucleotide variant Pathogenic/Likely pathogenic rs606231451 GRCh37 Chromosome 1, 1470752: 1470752
3 TMEM240 NM_001114748.1(TMEM240): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs606231452 GRCh38 Chromosome 1, 1535392: 1535392
4 TMEM240 NM_001114748.1(TMEM240): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs606231452 GRCh37 Chromosome 1, 1470772: 1470772
5 TMEM240 NM_001114748.1(TMEM240): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs606231453 GRCh38 Chromosome 1, 1535616: 1535616
6 TMEM240 NM_001114748.1(TMEM240): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs606231453 GRCh37 Chromosome 1, 1470996: 1470996
7 TMEM240 NM_001114748.1(TMEM240): c.239C> T (p.Thr80Met) single nucleotide variant Pathogenic rs606231454 GRCh38 Chromosome 1, 1535723: 1535723
8 TMEM240 NM_001114748.1(TMEM240): c.239C> T (p.Thr80Met) single nucleotide variant Pathogenic rs606231454 GRCh37 Chromosome 1, 1471103: 1471103
9 TMEM240 NM_001114748.1(TMEM240): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs606231455 GRCh38 Chromosome 1, 1535370: 1535370
10 TMEM240 NM_001114748.1(TMEM240): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs606231455 GRCh37 Chromosome 1, 1470750: 1470750
11 SCYL1 NM_020680.3(SCYL1): c.937delG (p.Val313Cysfs) deletion Pathogenic rs864309664 GRCh38 Chromosome 11, 65530716: 65530716
12 SCYL1 NM_020680.3(SCYL1): c.937delG (p.Val313Cysfs) deletion Pathogenic rs864309664 GRCh37 Chromosome 11, 65298187: 65298187
13 SCYL1 NM_020680.3(SCYL1): c.1509_1510delTG (p.Ala504Profs) deletion Pathogenic rs864309665 GRCh38 Chromosome 11, 65536075: 65536076
14 SCYL1 NM_020680.3(SCYL1): c.1509_1510delTG (p.Ala504Profs) deletion Pathogenic rs864309665 GRCh37 Chromosome 11, 65303546: 65303547
15 SCYL1 NM_020680.3(SCYL1): c.1230+1G> A single nucleotide variant Pathogenic rs864309666 GRCh38 Chromosome 11, 65532806: 65532806
16 SCYL1 NM_020680.3(SCYL1): c.1230+1G> A single nucleotide variant Pathogenic rs864309666 GRCh37 Chromosome 11, 65300277: 65300277
17 SCYL1 NM_020680.3(SCYL1): c.1636C> T (p.Gln546Ter) single nucleotide variant Pathogenic rs864309667 GRCh38 Chromosome 11, 65536319: 65536319
18 SCYL1 NM_020680.3(SCYL1): c.1636C> T (p.Gln546Ter) single nucleotide variant Pathogenic rs864309667 GRCh37 Chromosome 11, 65303790: 65303790
19 TMEM240 NM_001114748.1(TMEM240): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs1045410944 GRCh37 Chromosome 1, 1470999: 1470999
20 TMEM240 NM_001114748.1(TMEM240): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs1045410944 GRCh38 Chromosome 1, 1535619: 1535619

Expression for Spinocerebellar Ataxia 21

Search GEO for disease gene expression data for Spinocerebellar Ataxia 21.

Pathways for Spinocerebellar Ataxia 21

GO Terms for Spinocerebellar Ataxia 21

Sources for Spinocerebellar Ataxia 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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