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

SCA11 MCID: SPN305 MIFTS: 43	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 ⁵⁶ ⁵² ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Spinocerebellar Ataxia Type 11 ¹² ²⁴ ⁵² ⁵⁸ ¹⁵

Sca11 ⁵⁶ ²⁴ ⁵² ⁵⁸ ⁷³

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:

⁵⁶

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:

²⁴

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 ⁵⁶ 604432

OMIM Phenotypic Series ⁵⁶ PS164400

MeSH ⁴³ D020754

ICD10 via Orphanet ³³ G11.8

UMLS via Orphanet ⁷² C1858351

Orphanet ⁵⁸ ORPHA98767

MedGen ⁴¹ C1858351

SNOMED-CT via HPO ⁶⁸ 111533001 14648003 228158008 more

UMLS ⁷¹ C1858351

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Summaries for Spinocerebellar Ataxia 11

NIH Rare Diseases : ⁵² 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 : ⁷³ 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 6 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 2
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 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 33)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia, autosomal recessive 11	11.4
2	spinocerebellar ataxia 1	11.2
3	spinocerebellar ataxia 26	11.2
4	ataxia and polyneuropathy, adult-onset	10.4
5	aceruloplasminemia	10.2
6	autosomal dominant cerebellar ataxia	10.2
7	nephronophthisis 16	10.2	CEP83 CEP164
8	dentatorubral-pallidoluysian atrophy	10.1
9	spinocerebellar ataxia 14	10.1
10	dystonia	10.1
11	peripheral nervous system disease	10.1
12	neuropathy	10.1
13	pathologic nystagmus	10.1
14	cerebellar degeneration	10.1
15	dysphagia	10.1
16	spinocerebellar degeneration	10.1
17	orofaciodigital syndrome iv	10.0	OFD1 C2CD3
18	nephronophthisis 18	9.9	SCLT1 CEP83 CEP164
19	orofaciodigital syndrome v	9.9	OFD1 C2CD3
20	joubert syndrome 2	9.9	OFD1 C2CD3
21	primary autosomal recessive microcephaly	9.8	TTBK1 CEP164 CCP110
22	spinocerebellar ataxia 15	9.7	TTBK2 ATXN10
23	orofaciodigital syndrome vi	9.7	OFD1 C2CD3
24	nephronophthisis 15	9.7	SCLT1 CEP83 CEP164 C2CD3
25	short-rib thoracic dysplasia 6 with or without polydactyly	9.6	OFD1 C2CD3
26	bardet-biedl syndrome	9.5	OFD1 CEP97 CEP164 CCP110
27	senior-loken syndrome 1	9.3	OFD1 CEP97 CEP83 CEP164 CCP110
28	orofaciodigital syndrome	8.9	SCLT1 OFD1 CEP89 CEP83 CEP164 C2CD3
29	orofaciodigital syndrome i	8.7	SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
30	primary ciliary dyskinesia	8.6	SCLT1 OFD1 CEP89 CEP83 CEP164 CCP110
31	nephronophthisis	7.8	SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
32	meckel syndrome, type 1	7.8	SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
33	joubert syndrome 1	7.6	TTBK2 SCLT1 OFD1 CEP97 CEP89 CEP83

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	peripheral neuropathy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0009830
11	dystonia ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001332
12	hyperreflexia ³¹			HP:0001347
13	nystagmus ³¹			HP:0000639
14	cerebellar atrophy ³¹			HP:0001272

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Head And Neck Eyes:
nystagmus

Clinical features from OMIM:

604432

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.02	C2CD3 CCP110 OFD1 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 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, Testes, Brain, Liver, Skin

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Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

(show all 31)

#	Title	Authors	PMID	Year
1	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. ²⁴ ⁵⁶ ⁶	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. ²⁴ ⁵⁶	Worth PF...Wood NW	10417284	1999
3	Spinocerebellar Ataxia Type 11 ⁶¹ ⁶	Chen Z...Houlden H	20301723	2008
4	First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features. ⁶¹ ²⁴	Deng Y...Qi X	31485862	2020
5	Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. ⁶¹ ²⁴	Bowie E...Goetz SC	30532139	2018
6	A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. ⁶¹ ²⁴	Lindquist SG...Hjermind LE	27165044	2017
7	The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. ⁶¹ ²⁴	Goetz SC...Anderson KV	23141541	2012
8	Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. ⁶¹ ²⁴	Bauer P...Brice A	20667868	2010
9	Spinocerebellar ataxia type 11 in the Chinese Han population. ⁶¹ ²⁴	Xu Q...Tang B	19768375	2010
10	EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ⁶	Gasser T...EFNS	20050888	2010
11	Missense exchanges in the TTBK2 gene mutated in SCA11. ⁶¹ ²⁴	Edener U...Zuhlke C	19533200	2009
12	Hereditary Ataxia Overview ⁶	Bird TD	20301317	1998
13	Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration. ²⁴	Taylor LM...Kraemer BC	29409526	2018
14	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
15	Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1. ²⁴	Zhang N...Alessi DR	25673844	2015
16	Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2. ²⁴	Alesutan I...Lang F	22814243	2012
17	TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. ⁶¹	Bowie E...Goetz SC	31934864	2020
18	Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2. ⁶¹	Nieding K...Strutz-Seebohm N	27607061	2016
19	Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. ⁶¹	Zuhlke C...Burk K	26677414	2015
20	Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2. ⁶¹	Almilaji A...Lang F	23942339	2013
21	Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. ⁶¹	Fujioka S...Wszolek ZK	23331413	2013
22	Brain pathology of spinocerebellar ataxias. ⁶¹	Seidel K...Rub U	22684686	2012
23	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
24	Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases. ⁶¹	Wang J...Jiang H	21743138	2011
25	Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. ⁶¹	Durr A	20723845	2010
26	Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15. ⁶¹	Weissbach A...Lohmann K	20589871	2010
27	[Molecular genetic approach to spinocerebellar ataxias]. ⁶¹	Ishikawa K...Mizusawa H	20030245	2009
28	Clinical and genetic analysis of spinocerebellar ataxia type 11. ⁶¹	Johnson J...Houlden H	18418680	2008
29	Spinocerebellar Ataxia Type 15 ⁶¹	Storey E	20301536	2006
30	A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. ⁶¹	Chung MY...Soong BW	12764052	2003
31	Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. ⁶¹	Filla A...Bruni A	11914409	2002

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Genes for Spinocerebellar Ataxia 11

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TTBK2	Tau Tubulin Kinase 2	Protein Coding	1386.28	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	18037885 20301317 20301723 (more) 20050888
2	SYT14	Synaptotagmin 14	Protein Coding	8.08	GeneCards inferred via : Summaries (show sections)
3	TTBK1	Tau Tubulin Kinase 1	Protein Coding	7.92	DISEASES inferred ¹⁵
4	CEP164	Centrosomal Protein 164	Protein Coding	7.12	DISEASES inferred ¹⁵
5	CEP83	Centrosomal Protein 83	Protein Coding	7.02	DISEASES inferred ¹⁵
6	CEP97	Centrosomal Protein 97	Protein Coding	6.9	DISEASES inferred ¹⁵
7	CCP110	Centriolar Coiled-Coil Protein 110	Protein Coding	6.76	DISEASES inferred ¹⁵
8	SCLT1	Sodium Channel And Clathrin Linker 1	Protein Coding	6.48	DISEASES inferred ¹⁵
9	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	6.19	DISEASES inferred ¹⁵
10	SLC6A12	Solute Carrier Family 6 Member 12	Protein Coding	5.89	DISEASES inferred ¹⁵
11	CEP89	Centrosomal Protein 89	Protein Coding	5.86	DISEASES inferred ¹⁵
12	FKBP15	FKBP Prolyl Isomerase 15	Protein Coding	5.83	DISEASES inferred ¹⁵
13	ATXN10	Ataxin 10	Protein Coding	5.73	DISEASES inferred ¹⁵
14	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	5.69	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TTBK2	NM_173500.4(TTBK2):c.1285_1286GA[1] (p.Glu429fs)	short repeat	Pathogenic	848	rs80356539	15:43069350-43069351	15:42777152-42777153
2	TTBK2	NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	duplication	Pathogenic	847	rs80356538	15:43069308-43069309	15:42777110-42777111
3	TTBK2	NM_173500.4(TTBK2):c.1304_1305GA[1] (p.Asp436fs)	short repeat	Pathogenic	41375	rs318240735	15:43069331-43069332	15:42777133-42777134
4	TTBK2	NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)	SNV	Uncertain significance	425066	rs36104367	15:43038006-43038006	15:42745808-42745808
5	TTBK2	NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)	deletion	Uncertain significance	634639	rs1566996154	15:43038127-43038144	15:42745929-42745946
6	TTBK2	NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)	SNV	Benign	130646	rs6493068	15:43170793-43170793	15:42878595-42878595

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Expression for Spinocerebellar Ataxia 11

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

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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 OFD1 CEP97 CEP89 CEP83
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12	TTBK2 SCLT1 OFD1 CEP97 CEP89 CEP83

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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	10.17	TTBK2 TTBK1 OFD1 FKBP15 CEP97 CEP89
2	cytosol	GO:0005829	10.06	TTBK2 TTBK1 SCLT1 OFD1 CEP97 CEP89
3	cytoskeleton	GO:0005856	9.91	TTBK2 SCLT1 OFD1 CEP97 CEP89 CEP83
4	cell projection	GO:0042995	9.88	TTBK2 OFD1 FKBP15 CCP110 C2CD3
5	microtubule organizing center	GO:0005815	9.76	OFD1 CEP97 CEP89 CCP110
6	centrosome	GO:0005813	9.7	SCLT1 OFD1 CEP97 CEP89 CEP164 CCP110
7	ciliary basal body	GO:0036064	9.58	TTBK2 OFD1 C2CD3
8	centriolar satellite	GO:0034451	9.54	OFD1 CEP97 C2CD3
9	ciliary transition fiber	GO:0097539	9.26	SCLT1 CEP89 CEP83 CEP164
10	centriole	GO:0005814	9.23	TTBK2 SCLT1 OFD1 CEP89 CEP83 CEP164

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	9.76	TTBK2 SCLT1 OFD1 CEP89 CEP83 CEP164
2	G2/M transition of mitotic cell cycle	GO:0000086	9.61	OFD1 CEP164 CCP110
3	cell projection organization	GO:0030030	9.56	TTBK2 OFD1 CEP97 CEP89 CEP83 CEP164
4	non-motile cilium assembly	GO:1905515	9.46	CEP89 C2CD3
5	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.43	OFD1 CEP164 CCP110
6	protein localization to centrosome	GO:0071539	9.4	CEP83 C2CD3
7	centriole replication	GO:0007099	9.37	OFD1 CCP110
8	negative regulation of cilium assembly	GO:1902018	9.32	CEP97 CCP110
9	ciliary basal body-plasma membrane docking	GO:0097711	9.28	TTBK2 SCLT1 OFD1 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	8.96	TTBK2 TTBK1
2	tau-protein kinase activity	GO:0050321	8.62	TTBK2 TTBK1

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Sources for Spinocerebellar Ataxia 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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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 MeSH

⁴⁴ MESH via Orphanet

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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 6 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

Genetic tests related to Spinocerebellar Ataxia 11:

Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

Genes for Spinocerebellar Ataxia 11

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

Variations for Spinocerebellar Ataxia 11

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