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SCA11
MCID: SPN305
MIFTS: 42
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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
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MalaCards integrated aliases for Spinocerebellar Ataxia 11:
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; 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:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases
ICD10:
35
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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. 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 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, testes 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 : 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
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Human phenotypes related to Spinocerebellar Ataxia 11:60 33 (show all 14)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:604432GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:27 (show all 12)
MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:47
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Interventional clinical trials:
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MalaCards organs/tissues related to Spinocerebellar Ataxia 11:42
Eye,
Testes,
Spinal Cord,
Cerebellum,
Skin,
Liver
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Articles related to Spinocerebellar Ataxia 11:
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Genes related to Spinocerebellar Ataxia 11 (1 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia 11:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 11.
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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:(show all 11)
Molecular functions related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:
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