SCA14
MCID: SPN312
MIFTS: 47
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Spinocerebellar Ataxia 14 (SCA14)
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 14:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); OMIM:56
Miscellaneous:
slow progression incomplete penetrance mean age of onset 31 years (range 5-60)
Inheritance:
autosomal dominant HPO:31
spinocerebellar ataxia 14:
Inheritance autosomal dominant inheritance Onset and clinical course slow progression incomplete penetrance GeneReviews:24
Penetrance Clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least three families [yabe et al 2003, chen et al 2005].
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
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98763 Definition Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus . Epidemiology The disease has been reported in more than twenty families from Europe, the United States, and Australia. Clinical description Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia , axial myoclonus, facial myokymia, choreic movement of hands and epilepsy . Etiology SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age. Visit the Orphanet disease page for more resources.
MalaCards based summary : Spinocerebellar Ataxia 14, also known as spinocerebellar ataxia type 14, is related to cerebellar disease and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia and memory loss. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are Development Ligand-independent activation of ESR1 and ESR2 and Spinocerebellar ataxia. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait ataxia and generalized hypotonia Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has material basis in mutation in the PRKCG gene. UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 14: 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).
GeneReviews:
NBK1399
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Human phenotypes related to Spinocerebellar Ataxia 14:58 31 (show all 27)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:605361UMLS symptoms related to Spinocerebellar Ataxia 14:gait ataxia, memory loss GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Spinocerebellar Ataxia 14:40
Eye,
Cerebellum,
Spinal Cord,
Cortex
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Articles related to Spinocerebellar Ataxia 14:(show top 50) (show all 80)
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ClinVar genetic disease variations for Spinocerebellar Ataxia 14:6 (show top 50) (show all 84)
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:73
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 14.
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Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:
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