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SCAR16
MCID: SPN273
MIFTS: 42
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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, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 16:
Characteristics:Orphanet epidemiological data:58
autosomal recessive cerebellar ataxia due to stub1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset usually in second decade variable age at onset (range 2 to 48 years) HPO:31
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 Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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OMIM® :
57
Autosomal recessive spinocerebellar ataxia-16 (SCAR16) is a progressive neurologic disorder characterized by truncal and limb ataxia, resulting in gait instability, associated with cerebellar atrophy on brain imaging. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, hyperreflexia of the lower limbs, and mild peripheral sensory neuropathy. Some patients have gonadal dysfunction or hypogonadism and/or cognitive deficits. The phenotype represents a spectrum or continuum of neurodegenerative features that may overlap with those of SCA48 (summary by Shi et al., 2013 and Ravel et al., 2021). (615768) (Updated 05-Mar-2021)
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 16, also known as scar16, is related to spinocerebellar ataxia 48 and gordon holmes syndrome, 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 Protein processing in endoplasmic reticulum and Regulation of degradation of deltaF508 CFTR in CF. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and cerebellar atrophy Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has material basis in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. UniProtKB/Swiss-Prot : 73 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. |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 16:58 31 (show top 50) (show all 59)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615768 (Updated 05-Mar-2021)UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 16:ataxia, truncal |
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 16:40
Eye,
Cerebellum,
Spinal Cord,
Pons,
Skeletal Muscle
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Articles related to Spinocerebellar Ataxia, Autosomal Recessive 16:(show all 25)
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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 15)
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 16:73 (show all 12)
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 16.
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Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:
Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 16 according to GeneCards Suite gene sharing:
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