SCA11
MCID: SPN305
MIFTS: 42

Spinocerebellar Ataxia 11 (SCA11) malady

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

Aliases & Classifications for Spinocerebellar Ataxia 11

Aliases & Descriptions for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 54 50 66 13 69
Spinocerebellar Ataxia Type 11 12 23 50 56 29 14
Sca11 23 50 56 66

Characteristics:

Orphanet epidemiological data:

56
spinocerebellar ataxia type 11
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

GeneReviews:

23
spinocerebellar ataxia 11:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


GeneReviews:

23
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 604432
Disease Ontology 12 DOID:0050961
Orphanet 56 ORPHA98767
ICD10 via Orphanet 34 G11.8
MedGen 40 C1858351
MeSH 42 D020754

Summaries for Spinocerebellar Ataxia 11

NIH Rare Diseases : 50 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. last updated: 8/11/2015

MalaCards based summary : Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to spinocerebellar ataxia, autosomal recessive 11 and spinocerebellar ataxia type11, and has symptoms including nystagmus, dysarthria and hyperreflexia. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Alzheimers Disease Pathway. The drugs Bupropion and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nervous system and taste/olfaction

UniProtKB/Swiss-Prot : 66 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 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

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

(show all 13)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 11 11.0
2 spinocerebellar ataxia type11 11.0
3 spinocerebellar ataxia 1 10.8
4 hypotrichosis 1 10.1 PRKCG TTBK2
5 riedel's fibrosing thyroiditis 10.0 MAPT TARDBP
6 dipetalonemiasis 10.0 PRKCG SPTBN2 TTBK2
7 severe congenital nemaline myopathy 10.0 MAPT TARDBP
8 acrofrontofacionasal dysostosis 10.0 MAPT TARDBP
9 cephalic disorders 9.9 PRKCG SPTBN2 TTBK2
10 andersen syndrome 9.8 MAPT TARDBP
11 mucopolysaccharidosis iv 9.8 MAPT RAB5A TARDBP
12 epilepsy, nocturnal frontal lobe, 5 9.7 CCP110 CEP164 SHH
13 fanconi renotubular syndrome 1 8.3 CCP110 CEP164 CEP97 GRIK2 MAPT PRKCG

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



Diseases related to Spinocerebellar Ataxia 11

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Symptoms by clinical synopsis from OMIM:

604432

Clinical features from OMIM:

604432

Human phenotypes related to Spinocerebellar Ataxia 11:

32
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 hyperreflexia 32 HP:0001347
4 cerebellar atrophy 32 HP:0001272
5 progressive cerebellar ataxia 32 HP:0002073

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 CCP110 GRIK2 MAPT PRKCG SHH SPTBN2
2 taste/olfaction MP:0005394 8.8 PRKCG SHH MAPT

Drugs & Therapeutics for Spinocerebellar Ataxia 11

Drugs for Spinocerebellar Ataxia 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4 Antidepressive Agents Phase 4
5 Antidepressive Agents, Second-Generation Phase 4
6 Antiparkinson Agents Phase 4
7 Autonomic Agents Phase 4,Phase 3
8 Cholinergic Agents Phase 4
9 Cholinergic Antagonists Phase 4
10 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
11 Cytochrome P-450 Enzyme Inhibitors Phase 4
12 Dopamine Agents Phase 4
13 Dopamine Uptake Inhibitors Phase 4
14 Muscarinic Antagonists Phase 4
15 Neurotransmitter Agents Phase 4
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Parasympatholytics Phase 4
18 Peripheral Nervous System Agents Phase 4,Phase 3
19 Psychotropic Drugs Phase 4
20
Serotonin Phase 4 50-67-9 5202
21 Serotonin Agents Phase 4
22 Serotonin Uptake Inhibitors Phase 4
23
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
24 Antiemetics Phase 3
25 Anti-Inflammatory Agents Phase 3
26 Antineoplastic Agents, Hormonal Phase 3
27 BB 1101 Phase 3
28 Dexamethasone 21-phosphate Phase 3
29 Dexamethasone acetate Phase 3 1177-87-3
30 Gastrointestinal Agents Phase 3
31 glucocorticoids Phase 3
32 HIV Protease Inhibitors Phase 3
33 Hormone Antagonists Phase 3
34 Hormones Phase 3
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
36 Pharmaceutical Solutions Phase 3,Phase 1
37
protease inhibitors Phase 3
38 Antibodies Phase 1
39 gamma-Globulins Phase 1
40 Immunoglobulins Phase 1
41 Immunoglobulins, Intravenous Phase 1
42 Rho(D) Immune Globulin Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4
2 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
3 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Recruiting NCT02287064 Phase 1
4 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:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 11 29

Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

39
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 11

Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

6
id 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.1284_1285delAG (p.Glu429Aspfs) deletion Pathogenic rs80356539 GRCh37 Chromosome 15, 43069353: 43069354
3 TTBK2 NM_173500.3(TTBK2): c.1306_1307delGA (p.Asp436Tyrfs) deletion Pathogenic rs318240735 GRCh37 Chromosome 15, 43069331: 43069332

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CCP110 CEP164 CEP97 TTBK2
2 10.61 MAPT PRKCG

GO Terms for Spinocerebellar Ataxia 11

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.72 CCP110 MAPT PRKCG RAB5A TTBK2
2 dendrite GO:0030425 9.56 GRIK2 MAPT PRKCG RAB5A
3 cytoskeleton GO:0005856 9.43 CCP110 CEP164 CEP97 MAPT SPTBN2 TTBK2
4 centriole GO:0005814 9.33 CCP110 CEP164 TTBK2
5 somatodendritic compartment GO:0036477 8.62 MAPT RAB5A
6 cytosol GO:0005829 10.02 CCP110 CEP164 CEP97 MAPT PRKCG RAB5A

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.43 MAPT SHH TARDBP
2 negative regulation of protein catabolic process GO:0042177 9.32 PRKCG SHH
3 cell projection organization GO:0030030 9.26 CCP110 CEP164 CEP97 TTBK2
4 negative regulation of cilium assembly GO:1902018 9.16 CCP110 CEP97
5 ciliary basal body docking GO:0097711 8.92 CCP110 CEP164 CEP97 TTBK2

Sources for Spinocerebellar Ataxia 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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