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SCA7
MCID: SPN291
MIFTS: 52
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Spinocerebellar Ataxia 7 (SCA7)
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 7:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 7
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly,Infancy; Age of death: any age; OMIM:56
Miscellaneous:
genetic anticipation paternal anticipation bias mean age at onset 32 years
Inheritance:
autosomal dominant HPO:31
spinocerebellar ataxia 7:
Inheritance autosomal dominant inheritance genetic anticipation with paternal anticipation bias GeneReviews:24
Penetrance See molecular genetic testing.
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
Rare eye diseases External Ids:
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NIH Rare Diseases :
52
Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia ; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria ), and difficulty swallowing (dysphagia ). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.
MalaCards based summary : Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia 1 and spinocerebellar ataxia 36, and has symptoms including abnormality of extrapyramidal motor function, muscle spasticity and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Deubiquitination and Chromatin organization. The drugs Riluzole and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and brain, and related phenotypes are hyperreflexia and dysarthria Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has material basis in mutation in the ATXN7 gene. OMIM : 56 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (164500) UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 7: 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.
GeneReviews:
NBK1256
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Human phenotypes related to Spinocerebellar Ataxia 7:58 31 (show all 43)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:164500UMLS symptoms related to Spinocerebellar Ataxia 7:abnormality of extrapyramidal motor function, muscle spasticity, abnormal pyramidal signs GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:26 (show all 25)
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Drugs for Spinocerebellar Ataxia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
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MalaCards organs/tissues related to Spinocerebellar Ataxia 7:40
Eye,
Cerebellum,
Brain,
Spinal Cord,
Testes,
Retina,
Heart
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Articles related to Spinocerebellar Ataxia 7:(show top 50) (show all 274)
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Genes related to Spinocerebellar Ataxia 7 (1 elite genes):(show all 22) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia 7:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 7.
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Pathways related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:
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Cellular components related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:
Molecular functions related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:
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