MCID: SPN096
MIFTS: 30

Spinocerebellar Ataxia 21

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

Aliases & Classifications for Spinocerebellar Ataxia 21

MalaCards integrated aliases for Spinocerebellar Ataxia 21:

Name: Spinocerebellar Ataxia 21 53 49 71 28 13 69
Spinocerebellar Ataxia Type 21 12 49 55 14
Sca21 53 49 55 71
Spinocerebellar Ataxia 21 with Mental Retardation and Severe Cognitive Impairment 71

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 21
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
spinocerebellar ataxia 21:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 607454
Disease Ontology 12 DOID:0050972
Orphanet 55 ORPHA98773
MESH via Orphanet 42 C537200
UMLS via Orphanet 70 C1843891
ICD10 via Orphanet 33 G11.1
MedGen 39 C1843891
MeSH 41 D020754
UMLS 69 C1843891

Summaries for Spinocerebellar Ataxia 21

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Spinocerebellar Ataxia 21, also known as spinocerebellar ataxia type 21, is related to spinocerebellar ataxia, autosomal recessive 21 and ataxia and polyneuropathy, adult-onset, and has symptoms including scanning speech, cogwheel rigidity and gait ataxia. An important gene associated with Spinocerebellar Ataxia 21 is TMEM240 (Transmembrane Protein 240). Affiliated tissues include eye, spinal cord and cerebellum.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Spinocerebellar ataxia.

OMIM : 53 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)

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 Type 16 Spinocerebellar Ataxia Type 19/22
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 11.2
2 ataxia and polyneuropathy, adult-onset 9.9
3 autosomal dominant cerebellar ataxia 9.9

Symptoms & Phenotypes for Spinocerebellar Ataxia 21

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
scanning speech
tremor
cerebellar ataxia
cogwheel rigidity
gait ataxia
more
Neurologic Behavioral Psychiatric Manifestations:
impulsivity
apathy
executive dysfunction
aggression

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


Clinical features from OMIM:

607454

Human phenotypes related to Spinocerebellar Ataxia 21:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 scanning speech 31 HP:0002168
2 cogwheel rigidity 31 HP:0002396
3 gait ataxia 31 HP:0002066
4 nystagmus 31 occasional (7.5%) HP:0000639
5 intellectual disability 31 HP:0001249
6 dysarthria 31 HP:0001260
7 global developmental delay 31 HP:0001263
8 cognitive impairment 31 HP:0100543
9 limb ataxia 31 HP:0002070
10 dysgraphia 31 HP:0010526
11 aggressive behavior 31 HP:0000718
12 hyporeflexia 31 HP:0001265
13 postural tremor 31 HP:0002174
14 cerebellar atrophy 31 HP:0001272
15 impulsivity 31 HP:0100710
16 parkinsonism 31 HP:0001300
17 apathy 31 HP:0000741
18 slow saccadic eye movements 31 HP:0000514
19 progressive cerebellar ataxia 31 HP:0002073
20 akinesia 31 HP:0002304
21 microsaccadic pursuit 31 HP:0007792

UMLS symptoms related to Spinocerebellar Ataxia 21:


gait ataxia, scanning speech, static tremor, abnormality of extrapyramidal motor function, cogwheel rigidity, tremor, cerebellar 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 28 TMEM240

Anatomical Context for Spinocerebellar Ataxia 21

MalaCards organs/tissues related to Spinocerebellar Ataxia 21:

38
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:

71
# 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
# 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.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs606231452 GRCh38 Chromosome 1, 1535392: 1535392
3 TMEM240 NM_001114748.1(TMEM240): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs606231453 GRCh38 Chromosome 1, 1535616: 1535616
4 TMEM240 NM_001114748.1(TMEM240): c.239C> T (p.Thr80Met) single nucleotide variant Pathogenic rs606231454 GRCh38 Chromosome 1, 1535723: 1535723
5 TMEM240 NM_001114748.1(TMEM240): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs606231455 GRCh38 Chromosome 1, 1535370: 1535370
6 SCYL1 NM_020680.3(SCYL1): c.937delG (p.Val313Cysfs) deletion Pathogenic rs864309664 GRCh38 Chromosome 11, 65530716: 65530716
7 SCYL1 NM_020680.3(SCYL1): c.1509_1510delTG (p.Ala504Profs) deletion Pathogenic rs864309665 GRCh38 Chromosome 11, 65536075: 65536076
8 SCYL1 NM_020680.3(SCYL1): c.1230+1G> A single nucleotide variant Pathogenic rs864309666 GRCh38 Chromosome 11, 65532806: 65532806
9 SCYL1 NM_020680.3(SCYL1): c.1636C> T (p.Gln546Ter) single nucleotide variant Pathogenic rs864309667 GRCh38 Chromosome 11, 65536319: 65536319

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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