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SCAR16
MCID: SPN273
MIFTS: 37
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Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16)
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, Autosomal Recessive 16:
Characteristics:Orphanet epidemiological data:59
autosomal recessive cerebellar ataxia due to stub1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset usually in second decade variable age at onset (range 2 to 48 years) HPO:32
spinocerebellar ataxia, autosomal recessive 16:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Mental diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
74
Spinocerebellar ataxia, autosomal recessive, 16: A form of spinocerebellar ataxia, 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. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy.
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 16, also known as scar16, is related to ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar ataxia, and has symptoms including ataxia, truncal An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 16 is STUB1 (STIP1 Homology And U-Box Containing Protein 1), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and limb ataxia OMIM : 57 Autosomal recessive spinocerebellar ataxia-16 is a progressive neurologic disorder characterized by truncal and limb ataxia resulting in gait instability. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy (summary by Shi et al., 2013). (615768) |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:59 32 (show top 50) (show all 58)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615768UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 16:ataxia, truncal |
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 16:41
Eye,
Spinal Cord,
Cerebellum,
Pons,
Skeletal Muscle
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Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:(show all 16)
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Genes related to Spinocerebellar Ataxia, Autosomal Recessive 16 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:6 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:74 (show all 12)
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 16.
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