Spinocerebellar Ataxia 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCA11 MCID: SPN305 MIFTS: 44	Spinocerebellar Ataxia 11 (SCA11) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spinocerebellar Ataxia 11

MalaCards integrated aliases for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 ⁵⁷ ²⁰ ⁷² ¹³ ⁷⁰

Spinocerebellar Ataxia Type 11 ¹² ²⁵ ²⁰ ⁵⁸ ²⁹ ⁶ ¹⁵

Sca11 ⁵⁷ ²⁵ ²⁰ ⁵⁸ ⁷²

Ataxia, Spinocerebellar, Type 11 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
onset in third or fourth decades

HPO:

³¹

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

GeneReviews:

²⁵

Penetrance The ttbk2 pathogenic variants in the six families described to date appear to be fully penetrant, although a number of at-risk relatives are younger than the typical age of onset. to date, no non-penetrant pathogenic variants have been identified in older individuals.

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050961

OMIM® ⁵⁷ 604432

OMIM Phenotypic Series ⁵⁷ PS164400

MeSH ⁴⁴ D020754

ICD10 via Orphanet ³³ G11.8

UMLS via Orphanet ⁷¹ C1858351

Orphanet ⁵⁸ ORPHA98767

MedGen ⁴¹ C1858351

SNOMED-CT via HPO ⁶⁸ 111533001 14648003 228158008 more

UMLS ⁷⁰ C1858351

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Summaries for Spinocerebellar Ataxia 11

GARD : ²⁰ 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. Age of onset ranges from the early teens to the mid 20s and life span is normal. Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change ( 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 spinocerebellar ataxia, autosomal recessive 11 and spinocerebellar ataxia 1. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, cerebellum and spinal cord, 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 : ⁷² 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.

More information from OMIM: 604432 PS164400

GeneReviews: NBK1757

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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 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, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28	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:

(show all 36)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia, autosomal recessive 11	11.2
2	spinocerebellar ataxia 1	10.9
3	spinocerebellar ataxia 26	10.9
4	joubert syndrome 21	10.2	CEP97 CEP164
5	joubert syndrome 23	10.1	CEP97 CCP110
6	nephronophthisis 12	10.1	CEP83 CEP164
7	ataxia and polyneuropathy, adult-onset	10.1
8	dentatorubral-pallidoluysian atrophy	10.1
9	dystonia	10.1
10	peripheral nervous system disease	10.1
11	neuropathy	10.1
12	pathologic nystagmus	10.1
13	cerebellar degeneration	10.1
14	dysphagia	10.1
15	spinocerebellar degeneration	10.1
16	spinocerebellar ataxia 30	10.0	TTBK2 ATXN10
17	joubert syndrome 24	10.0	IFT88 CEP164
18	joubert syndrome 5	10.0	CEP97 CCP110
19	cone-rod dystrophy 20	10.0	CEP97 CEP89
20	autosomal dominant cerebellar ataxia	9.9
21	mosaic variegated aneuploidy syndrome	9.9	CEP97 CEP89 CCP110
22	nephronophthisis 15	9.8	SCLT1 CEP83 CEP164 C2CD3
23	spinocerebellar ataxia 15	9.8	TTBK2 ATXN10
24	senior-loken syndrome 1	9.7	IFT88 CEP97 CEP164 CCP110
25	primary autosomal recessive microcephaly	9.7	TTBK1 IFT88 CEP164 CCP110
26	bardet-biedl syndrome	9.5	SCLT1 IFT88 CEP97 CEP164 CCP110
27	orofaciodigital syndrome i	9.3	IFT88 CEP97 CEP89 CEP83 CEP164 CCP110
28	cone-rod dystrophy 2	9.3	SCLT1 FBF1 CEP89 CEP83 C2CD3
29	orofaciodigital syndrome	9.3	SCLT1 IFT88 CEP89 CEP83 CEP164 C2CD3
30	asphyxiating thoracic dystrophy	9.2	IFT88 FBF1 CEP83 CEP164 CCP110 C2CD3
31	nephronophthisis 18	9.2	TTBK2 SCLT1 FBF1 CEP89 CEP83 CEP164
32	fundus dystrophy	9.2	SCLT1 IFT88 CEP97 CEP83 CEP164 CCP110
33	primary ciliary dyskinesia	8.8	SCLT1 IFT88 FBF1 CEP89 CEP83 CEP164
34	joubert syndrome 1	8.5	TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
35	nephronophthisis	8.3	TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
36	meckel syndrome, type 1	8.2	TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89

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

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Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Human phenotypes related to Spinocerebellar Ataxia 11:

⁵⁸ ³¹ (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001260
2	dysphagia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002015
3	gait imbalance ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002141
4	difficulty walking ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002355
5	progressive cerebellar ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002073
6	horizontal nystagmus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000666
7	jerky ocular pursuit movements ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008003
8	vertical nystagmus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010544
9	abnormal pyramidal sign ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0007256
10	dystonia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001332
11	peripheral neuropathy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0009830
12	hyperreflexia ³¹			HP:0001347
13	nystagmus ³¹			HP:0000639
14	cerebellar atrophy ³¹			HP:0001272

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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

Head And Neck Eyes:
nystagmus

Clinical features from OMIM®:

604432 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.1	C2CD3 CCP110 FBF1 IFT88 SCLT1 TTBK2

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Drugs & Therapeutics for Spinocerebellar Ataxia 11

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 11

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Genetic Tests for Spinocerebellar Ataxia 11

Genetic tests related to Spinocerebellar Ataxia 11:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia Type 11 ²⁹	TTBK2

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Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

⁴⁰

Eye, Cerebellum, Spinal Cord

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Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

(show all 27)

#	Title	Authors	PMID	Year
1	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. ⁵⁷ ⁶ ²⁵ ⁶¹	Houlden H...Wood NW	18037885	2007
2	Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. ²⁵ ⁵⁷	Worth PF...Wood NW	10417284	1999
3	Spinocerebellar Ataxia Type 11 ⁶ ⁶¹	Chen Z...Houlden H	20301723	2008
4	First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features. ⁶¹ ²⁵	Deng Y...Qi X	31485862	2020
5	Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. ²⁵ ⁶¹	Bowie E...Goetz SC	30532139	2018
6	A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. ²⁵ ⁶¹	Lindquist SG...Hjermind LE	27165044	2017
7	The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. ²⁵ ⁶¹	Goetz SC...Anderson KV	23141541	2012
8	Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. ²⁵ ⁶¹	Bauer P...Brice A	20667868	2010
9	Spinocerebellar ataxia type 11 in the Chinese Han population. ⁶¹ ²⁵	Xu Q...Tang B	19768375	2010
10	Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration. ²⁵	Taylor LM...Kraemer BC	29409526	2018
11	Timing, rates and spectra of human germline mutation. ²⁵	Rahbari R...Hurles ME	26656846	2016
12	Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1. ²⁵	Zhang N...Alessi DR	25673844	2015
13	Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2. ²⁵	Alesutan I...Lang F	22814243	2012
14	Missense exchanges in the TTBK2 gene mutated in SCA11. ²⁵	Edener U...Zuhlke C	19533200	2009
15	Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. ⁶¹	Bao C...Dillon GM	32424773	2021
16	Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice. ⁶¹	McMillan P...Liachko NF	33228809	2020
17	The crystal structure of the catalytic domain of tau tubulin kinase 2 in complex with a small-molecule inhibitor. ⁶¹	Marcotte DJ...Chodaparambil JV	32133995	2020
18	TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. ⁶¹	Bowie E...Goetz SC	31934864	2020
19	Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation. ⁶¹	Lo CH...Wang WJ	31455668	2019
20	Tau Tubulin Kinase 1 (TTBK1), a new player in the fight against neurodegenerative diseases. ⁶¹	Nozal V...Martinez A	30342424	2019
21	Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2. ⁶¹	Nieding K...Strutz-Seebohm N	27607061	2016
22	TTBK2: a tau protein kinase beyond tau phosphorylation. ⁶¹	Liao JC...Chang CW	25950000	2015
23	Tau-tubulin kinase. ⁶¹	Ikezu S...Ikezu T	24808823	2014
24	Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2. ⁶¹	Almilaji A...Lang F	23942339	2013
25	Spinocerebellar ataxia type 11. ⁶¹	Giunti P...Wood NW	21827911	2012
26	TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. ⁶¹	Bouskila M...Alessi DR	21548880	2011
27	Clinical and genetic analysis of spinocerebellar ataxia type 11. ⁶¹	Johnson J...Houlden H	18418680	2008

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Genes for Spinocerebellar Ataxia 11

Genes related to Spinocerebellar Ataxia 11 (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TTBK2	Tau Tubulin Kinase 2	Protein Coding	1375.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name (show sections)	18037885 20301723 20301317
2	TTBK1	Tau Tubulin Kinase 1	Protein Coding	8.08	DISEASES inferred ¹⁵
3	SYT14	Synaptotagmin 14	Protein Coding	7.96	GeneCards inferred via : Summaries (show sections)
4	CEP97	Centrosomal Protein 97	Protein Coding	7.21	DISEASES inferred ¹⁵
5	CEP164	Centrosomal Protein 164	Protein Coding	7.06	DISEASES inferred ¹⁵
6	CEP83	Centrosomal Protein 83	Protein Coding	6.89	DISEASES inferred ¹⁵
7	CCP110	Centriolar Coiled-Coil Protein 110	Protein Coding	6.74	DISEASES inferred ¹⁵
8	SCLT1	Sodium Channel And Clathrin Linker 1	Protein Coding	6.49	DISEASES inferred ¹⁵
9	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	6.2	DISEASES inferred ¹⁵
10	SLC6A12	Solute Carrier Family 6 Member 12	Protein Coding	6.16	DISEASES inferred ¹⁵
11	CEP89	Centrosomal Protein 89	Protein Coding	6.08	DISEASES inferred ¹⁵
12	FBF1	Fas Binding Factor 1	Protein Coding	6	DISEASES inferred ¹⁵
13	IFT88	Intraflagellar Transport 88	Protein Coding	5.9	DISEASES inferred ¹⁵
14	FKBP15	FKBP Prolyl Isomerase Family Member 15	Protein Coding	5.74	DISEASES inferred ¹⁵
15	ATXN10	Ataxin 10	Protein Coding	5.59	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

⁶ (show top 50) (show all 86)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TTBK2	NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	Duplication	Pathogenic	847	rs80356538	GRCh37: 15:43069308-43069309 GRCh38: 15:42777110-42777111
2	TTBK2	NM_173500.4(TTBK2):c.1285_1286GA[1] (p.Glu429fs)	Microsatellite	Pathogenic	848	rs80356539	GRCh37: 15:43069350-43069351 GRCh38: 15:42777152-42777153
3	TTBK2	NM_173500.4(TTBK2):c.1304_1305GA[1] (p.Asp436fs)	Microsatellite	Pathogenic	41375	rs318240735	GRCh37: 15:43069331-43069332 GRCh38: 15:42777133-42777134
4	TTBK2	NM_173500.4(TTBK2):c.*744G>A	SNV	Uncertain significance	315965	rs769283772	GRCh37: 15:43037249-43037249 GRCh38: 15:42745051-42745051
5	TTBK2	NM_173500.4(TTBK2):c.*967G>A	SNV	Uncertain significance	315962	rs569220743	GRCh37: 15:43037026-43037026 GRCh38: 15:42744828-42744828
6	TTBK2	NM_173500.4(TTBK2):c.*604T>C	SNV	Uncertain significance	315968	rs886051161	GRCh37: 15:43037389-43037389 GRCh38: 15:42745191-42745191
7	TTBK2	NM_173500.4(TTBK2):c.*580T>A	SNV	Uncertain significance	315971	rs544516599	GRCh37: 15:43037413-43037413 GRCh38: 15:42745215-42745215
8	TTBK2	NM_173500.4(TTBK2):c.-68+15C>G	SNV	Uncertain significance	316000	rs886051163	GRCh37: 15:43212621-43212621 GRCh38: 15:42920423-42920423
9	TTBK2	NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)	SNV	Uncertain significance	315991	rs756629999	GRCh37: 15:43067401-43067401 GRCh38: 15:42775203-42775203
10	TTBK2	NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)	SNV	Uncertain significance	315985	rs751381521	GRCh37: 15:43045149-43045149 GRCh38: 15:42752951-42752951
11	TTBK2	NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)	SNV	Uncertain significance	315994	rs758352842	GRCh37: 15:43069278-43069278 GRCh38: 15:42777080-42777080
12	TTBK2	NM_173500.4(TTBK2):c.*507T>G	SNV	Uncertain significance	315972	rs886051162	GRCh37: 15:43037486-43037486 GRCh38: 15:42745288-42745288
13	TTBK2	NM_173500.4(TTBK2):c.-279C>A	SNV	Uncertain significance	316004	rs866690514	GRCh37: 15:43212847-43212847 GRCh38: 15:42920649-42920649
14	TTBK2	NM_173500.4(TTBK2):c.*1153G>A	SNV	Uncertain significance	315961	rs781080005	GRCh37: 15:43036840-43036840 GRCh38: 15:42744642-42744642
15	TTBK2	NM_173500.4(TTBK2):c.*847T>C	SNV	Uncertain significance	315964	rs567667407	GRCh37: 15:43037146-43037146 GRCh38: 15:42744948-42744948
16	TTBK2	NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)	SNV	Uncertain significance	315986	rs767399781	GRCh37: 15:43045153-43045153 GRCh38: 15:42752955-42752955
17	TTBK2	NM_173500.4(TTBK2):c.-130G>C	SNV	Uncertain significance	316001	rs886051164	GRCh37: 15:43212698-43212698 GRCh38: 15:42920500-42920500
18	TTBK2	NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)	SNV	Uncertain significance	315976	rs777159553	GRCh37: 15:43038301-43038301 GRCh38: 15:42746103-42746103
19	TTBK2	NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)	Deletion	Uncertain significance	634639	rs1566996154	GRCh37: 15:43038127-43038144 GRCh38: 15:42745929-42745946
20	TTBK2	NM_173500.4(TTBK2):c.*548C>T	SNV	Uncertain significance	884239		GRCh37: 15:43037445-43037445 GRCh38: 15:42745247-42745247
21	TTBK2	NM_173500.4(TTBK2):c.*536T>C	SNV	Uncertain significance	884240		GRCh37: 15:43037457-43037457 GRCh38: 15:42745259-42745259
22	TTBK2	NM_173500.4(TTBK2):c.-321C>A	SNV	Uncertain significance	884365		GRCh37: 15:43212889-43212889 GRCh38: 15:42920691-42920691
23	TTBK2	NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)	SNV	Uncertain significance	886269		GRCh37: 15:43038189-43038189 GRCh38: 15:42745991-42745991
24	TTBK2	NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)	SNV	Uncertain significance	886271		GRCh37: 15:43038244-43038244 GRCh38: 15:42746046-42746046
25	TTBK2	NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)	SNV	Uncertain significance	886272		GRCh37: 15:43038296-43038296 GRCh38: 15:42746098-42746098
26	TTBK2	NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)	SNV	Uncertain significance	886333		GRCh37: 15:43069401-43069401 GRCh38: 15:42777203-42777203
27	TTBK2	NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)	SNV	Uncertain significance	886334		GRCh37: 15:43075641-43075641 GRCh38: 15:42783443-42783443
28	TTBK2	NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)	SNV	Uncertain significance	886335		GRCh37: 15:43102934-43102934 GRCh38: 15:42810736-42810736
29	TTBK2	NM_173500.4(TTBK2):c.*1243C>T	SNV	Uncertain significance	887208		GRCh37: 15:43036750-43036750 GRCh38: 15:42744552-42744552
30	TTBK2	NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)	SNV	Uncertain significance	887327		GRCh37: 15:43109244-43109244 GRCh38: 15:42817046-42817046
31	TTBK2	NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)	SNV	Uncertain significance	887328		GRCh37: 15:43109262-43109262 GRCh38: 15:42817064-42817064
32	TTBK2	NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)	SNV	Uncertain significance	887329		GRCh37: 15:43122264-43122264 GRCh38: 15:42830066-42830066
33	TTBK2	NM_173500.4(TTBK2):c.-125C>G	SNV	Uncertain significance	887516		GRCh37: 15:43212693-43212693 GRCh38: 15:42920495-42920495
34	TTBK2	NM_173500.4(TTBK2):c.-184G>C	SNV	Uncertain significance	887517		GRCh37: 15:43212752-43212752 GRCh38: 15:42920554-42920554
35	TTBK2	NM_173500.4(TTBK2):c.-282A>C	SNV	Uncertain significance	887518		GRCh37: 15:43212850-43212850 GRCh38: 15:42920652-42920652
36	TTBK2	NM_173500.4(TTBK2):c.*598G>A	SNV	Uncertain significance	888465		GRCh37: 15:43037395-43037395 GRCh38: 15:42745197-42745197
37	TTBK2	NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)	SNV	Uncertain significance	888521		GRCh37: 15:43044516-43044516 GRCh38: 15:42752318-42752318
38	TTBK2	NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)	SNV	Uncertain significance	888522		GRCh37: 15:43045100-43045100 GRCh38: 15:42752902-42752902
39	TTBK2	NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)	SNV	Uncertain significance	983012		GRCh37: 15:43067833-43067833 GRCh38: 15:42775635-42775635
40	TTBK2	NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)	SNV	Uncertain significance	315977	rs576737530	GRCh37: 15:43038310-43038310 GRCh38: 15:42746112-42746112
41	TTBK2	NM_173500.4(TTBK2):c.*953A>G	SNV	Uncertain significance	887210		GRCh37: 15:43037040-43037040 GRCh38: 15:42744842-42744842
42	TTBK2	NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)	SNV	Uncertain significance	887268		GRCh37: 15:43038392-43038392 GRCh38: 15:42746194-42746194
43	TTBK2	NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)	SNV	Uncertain significance	425066	rs36104367	GRCh37: 15:43038006-43038006 GRCh38: 15:42745808-42745808
44	TTBK2	NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)	SNV	Uncertain significance	1030321		GRCh37: 15:43044724-43044724 GRCh38: 15:42752526-42752526
45	TTBK2	NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)	SNV	Likely benign	315975	rs199635198	GRCh37: 15:43038185-43038185 GRCh38: 15:42745987-42745987
46	TTBK2	NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)	SNV	Likely benign	315992	rs200124857	GRCh37: 15:43067776-43067776 GRCh38: 15:42775578-42775578
47	TTBK2	NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)	SNV	Likely benign	315998	rs200125366	GRCh37: 15:43109238-43109238 GRCh38: 15:42817040-42817040
48	TTBK2	NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)	SNV	Likely benign	586781	rs201662235	GRCh37: 15:43044423-43044423 GRCh38: 15:42752225-42752225
49	TTBK2	NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)	SNV	Likely benign	805621	rs377620628	GRCh37: 15:43044464-43044464 GRCh38: 15:42752266-42752266
50	TTBK2	NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)	SNV	Likely benign	735667	rs201347313	GRCh37: 15:43038308-43038308 GRCh38: 15:42746110-42746110

Sources

Expression for Spinocerebellar Ataxia 11

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

Sources

Pathways for Spinocerebellar Ataxia 11

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

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.6	TTBK2 SCLT1 FBF1 CEP97 CEP89 CEP83
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.05	TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89

Sources

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	cytoplasm	GO:0005737	10.18	TTBK2 TTBK1 SCLT1 IFT88 FKBP15 FBF1
2	cytosol	GO:0005829	10.14	TTBK2 TTBK1 SCLT1 FBF1 CEP97 CEP89
3	cytoskeleton	GO:0005856	9.96	TTBK2 SCLT1 IFT88 FBF1 CEP97 CEP89
4	cell projection	GO:0042995	9.88	TTBK2 IFT88 FKBP15 CCP110 C2CD3
5	centrosome	GO:0005813	9.76	SCLT1 IFT88 FBF1 CEP97 CEP89 CEP164
6	microtubule organizing center	GO:0005815	9.73	IFT88 CEP97 CEP89 CCP110
7	ciliary basal body	GO:0036064	9.62	TTBK2 IFT88 FBF1 C2CD3
8	non-motile cilium	GO:0097730	9.46	IFT88 CEP89
9	ciliary transition fiber	GO:0097539	9.35	SCLT1 FBF1 CEP89 CEP83 CEP164
10	centriole	GO:0005814	9.28	TTBK2 SCLT1 IFT88 FBF1 CEP89 CEP83

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium assembly	GO:0060271	9.81	TTBK2 SCLT1 IFT88 FBF1 CEP89 CEP83
2	cell projection organization	GO:0030030	9.61	TTBK2 IFT88 FBF1 CEP97 CEP89 CEP83
3	non-motile cilium assembly	GO:1905515	9.43	IFT88 CEP89 C2CD3
4	protein localization to centrosome	GO:0071539	9.37	CEP83 C2CD3
5	negative regulation of cilium assembly	GO:1902018	9.32	CEP97 CCP110
6	ciliary basal body-plasma membrane docking	GO:0097711	9.28	TTBK2 SCLT1 FBF1 CEP97 CEP89 CEP83

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

#	Name	GO ID	Score	Top Affiliating Genes
1	tau protein binding	GO:0048156	9.16	TTBK2 TTBK1
2	kinesin binding	GO:0019894	8.96	TTBK2 IFT88
3	tau-protein kinase activity	GO:0050321	8.62	TTBK2 TTBK1

Sources

Sources for Spinocerebellar Ataxia 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spinocerebellar Ataxia 11 (SCA11)

Aliases & Classifications for Spinocerebellar Ataxia 11

MalaCards integrated aliases for Spinocerebellar Ataxia 11:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia 11

Related Diseases for Spinocerebellar Ataxia 11

Diseases in the Spinocerebellar Ataxia 2 family:

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

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

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Human phenotypes related to Spinocerebellar Ataxia 11:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

Drugs & Therapeutics for Spinocerebellar Ataxia 11

Genetic Tests for Spinocerebellar Ataxia 11

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ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

Expression for Spinocerebellar Ataxia 11

Pathways for Spinocerebellar Ataxia 11

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

GO Terms for Spinocerebellar Ataxia 11

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

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

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

Sources for Spinocerebellar Ataxia 11