SCA11
MCID: SPN305
MIFTS: 42

Spinocerebellar Ataxia 11 (SCA11)

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 11

MalaCards integrated aliases for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 58 54 76 30 13 6 74
Spinocerebellar Ataxia Type 11 12 25 54 60 15
Sca11 58 25 54 60 76
Ataxia, Spinocerebellar, Type 11 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 11
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in third or fourth decades


HPO:

33
spinocerebellar ataxia 11:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance The ttbk2 pathogenic variants in the four families described to date appear to be fully penetrant, although a number of at-risk relatives are younger than the typical age of onset...

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050961
OMIM 58 604432
MeSH 45 D020754
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C1858351
Orphanet 60 ORPHA98767
MedGen 43 C1858351
UMLS 74 C1858351

Summaries for Spinocerebellar Ataxia 11

NIH Rare Diseases : 54 Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.

MalaCards based summary : Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 11. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has material basis in mutation in the TTBK2 gene.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 11: 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. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder.

Description from OMIM: 604432
GeneReviews: NBK1757

Related Diseases for Spinocerebellar Ataxia 11

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 48
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 30.0 PRKCG SPTBN2 TTBK2
2 spinocerebellar ataxia, autosomal recessive 11 11.3
3 spinocerebellar ataxia 1 11.1
4 townes-brocks syndrome 10.0 CCP110 CEP97
5 spinocerebellar ataxia 28 10.0 PRKCG TTBK2
6 joubert syndrome 1 9.9 CCP110 CEP164 SHH

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 11:



Diseases related to Spinocerebellar Ataxia 11

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Human phenotypes related to Spinocerebellar Ataxia 11:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 dysphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002015
3 gait imbalance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002141
4 difficulty walking 60 33 hallmark (90%) Very frequent (99-80%) HP:0002355
5 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
6 horizontal nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000666
7 jerky ocular pursuit movements 60 33 hallmark (90%) Very frequent (99-80%) HP:0008003
8 vertical nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010544
9 peripheral neuropathy 60 33 very rare (1%) Very rare (<4-1%) HP:0009830
10 dystonia 60 33 very rare (1%) Very rare (<4-1%) HP:0001332
11 abnormal pyramidal sign 33 very rare (1%) HP:0007256
12 nystagmus 33 HP:0000639
13 hyperreflexia 33 HP:0001347
14 abnormal pyramidal signs 60 Very rare (<4-1%)
15 cerebellar atrophy 33 HP:0001272

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Neurologic Central Nervous System:
dysarthria
hyperreflexia
progressive cerebellar ataxia
cerebellar atrophy

Clinical features from OMIM:

604432

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.55 PRKCG
2 Decreased viability GR00221-A-1 9.55 PRKCG SYT14
3 Decreased viability GR00221-A-2 9.55 PRKCG SYT14 TTBK1 TTBK2
4 Decreased viability GR00221-A-3 9.55 PRKCG TTBK1
5 Decreased viability GR00221-A-4 9.55 SYT14 TTBK1
6 Decreased viability GR00342-S-1 9.55 PRKCG
7 Decreased viability GR00342-S-2 9.55 PRKCG
8 Decreased viability GR00342-S-3 9.55 PRKCG
9 Decreased viability GR00402-S-2 9.55 PRKCG SYT14 TTBK2
10 Decreased substrate adherent cell growth GR00193-A-1 9.43 PRKCG TTBK1 TTBK2
11 Decreased substrate adherent cell growth GR00193-A-3 9.43 TTBK2
12 Decreased substrate adherent cell growth GR00193-A-4 9.43 TTBK1 TTBK2

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.8 MAPT PRKCG SHH

Drugs & Therapeutics for Spinocerebellar Ataxia 11

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 11

Genetic Tests for Spinocerebellar Ataxia 11

Genetic tests related to Spinocerebellar Ataxia 11:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 11 30 TTBK2

Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

42
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

# Title Authors Year
1
Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. ( 30532139 )
2018
2
Spinocerebellar ataxia type 11. ( 21827911 )
2012
3
Spinocerebellar ataxia type 11 in the Chinese Han population. ( 19768375 )
2010
4
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. ( 20667868 )
2010
5
Clinical and genetic analysis of spinocerebellar ataxia type 11. ( 18418680 )
2008
6
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. ( 18037885 )
2007
7
Spinocerebellar Ataxia Type 11 ( 20301723 )
1993

Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTBK2 NM_173500.3(TTBK2): c.1329dupA (p.Arg444Thrfs) duplication Pathogenic rs80356538 GRCh37 Chromosome 15, 43069309: 43069309
2 TTBK2 NM_173500.3(TTBK2): c.1329dupA (p.Arg444Thrfs) duplication Pathogenic rs80356538 GRCh38 Chromosome 15, 42777111: 42777111
3 TTBK2 NM_173500.3(TTBK2): c.1284_1285delAG (p.Glu429Aspfs) deletion Pathogenic rs80356539 GRCh37 Chromosome 15, 43069353: 43069354
4 TTBK2 NM_173500.3(TTBK2): c.1284_1285delAG (p.Glu429Aspfs) deletion Pathogenic rs80356539 GRCh38 Chromosome 15, 42777155: 42777156
5 TTBK2 NM_173500.3(TTBK2): c.1306_1307delGA (p.Asp436Tyrfs) deletion Pathogenic rs318240735 GRCh37 Chromosome 15, 43069331: 43069332
6 TTBK2 NM_173500.3(TTBK2): c.1306_1307delGA (p.Asp436Tyrfs) deletion Pathogenic rs318240735 GRCh38 Chromosome 15, 42777133: 42777134

Expression for Spinocerebellar Ataxia 11

Search GEO for disease gene expression data for Spinocerebellar Ataxia 11.

Pathways for Spinocerebellar Ataxia 11

Pathways related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CCP110 CEP164 CEP97 TTBK2

GO Terms for Spinocerebellar Ataxia 11

Cellular components related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 CCP110 MAPT MARK2 PRKCG RAB5A TTBK2
2 neuron projection GO:0043005 9.71 GABRR3 MAPT PRKCG SLC6A12
3 dendrite GO:0030425 9.55 GRIK2 MAPT MARK2 PRKCG RAB5A
4 centriole GO:0005814 9.54 CCP110 CEP164 TTBK2
5 cytoskeleton GO:0005856 9.5 CCP110 CEP164 CEP97 MAPT MARK2 SPTBN2
6 somatodendritic compartment GO:0036477 9.32 MAPT RAB5A
7 neuronal cell body GO:0043025 9.02 GRIK2 MAPT RAB5A SPTBN2 TTBK1
8 cytosol GO:0005829 10.13 CCP110 CEP164 CEP97 MAPT PRKCG RAB5A

Biological processes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.54 MAPT MARK2 TTBK2
2 negative regulation of protein catabolic process GO:0042177 9.49 PRKCG SHH
3 establishment of cell polarity GO:0030010 9.48 MARK2 SHH
4 regulation of microtubule cytoskeleton organization GO:0070507 9.46 MAPT MARK2
5 cell projection organization GO:0030030 9.46 CCP110 CEP164 CEP97 TTBK2
6 regulation of long-term neuronal synaptic plasticity GO:0048169 9.43 GRIK2 RAB5A
7 peptidyl-threonine phosphorylation GO:0018107 9.43 MARK2 TTBK1 TTBK2
8 axon development GO:0061564 9.4 MAPT MARK2
9 negative regulation of cilium assembly GO:1902018 9.32 CCP110 CEP97
10 peptidyl-serine phosphorylation GO:0018105 9.26 MARK2 PRKCG TTBK1 TTBK2
11 ciliary basal body-plasma membrane docking GO:0097711 8.92 CCP110 CEP164 CEP97 TTBK2

Molecular functions related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.46 MARK2 PRKCG TTBK1 TTBK2
2 protein serine/threonine kinase activity GO:0004674 9.26 MARK2 PRKCG TTBK1 TTBK2
3 tau-protein kinase activity GO:0050321 8.62 MARK2 TTBK2

Sources for Spinocerebellar Ataxia 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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