Spinocerebellar Ataxia 7 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Metabolic diseases, Ear diseases, Skin diseases, Fetal diseases, Cardiovascular diseases, Nephrological diseases
Aliases & Descriptions for Spinocerebellar Ataxia 7:
Orphanet epidemiological data:53
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
spinocerebellar ataxia 7:
Inheritance: autosomal dominant inheritance, genetic anticipation with paternal anticipation bias
Penetrance: see molecular genetic testing...
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Mental diseases, Ear diseases, Skin diseases, Cardiovascular diseases, Nephrological diseases
NIH Rare Diseases:47 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. Last updated: 7/12/2011
MalaCards based summary: Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia, autosomal recessive 7 and spinocerebellar ataxia 1, and has symptoms including hyperreflexia, mental deterioration and nystagmus. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways are Validated targets of C-MYC transcriptional activation and C-MYC pathway. Affiliated tissues include eye, cerebellum and spinal cord.
OMIM:51 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of... (164500) more...
UniProtKB/Swiss-Prot:69 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 for NBK1256
Human phenotypes related to Spinocerebellar Ataxia 7:63 (show all 20)
UMLS symptoms related to Spinocerebellar Ataxia 7:muscle spasticity, pyramidal sign, extrapyramidal sign
Drugs for Spinocerebellar Ataxia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
Interventional clinical trials:(show all 13)
Search NIH Clinical Center for Spinocerebellar Ataxia 7
MalaCards organs/tissues related to Spinocerebellar Ataxia 7:35
Eye, Cerebellum, Spinal cord, Brain, Testes, Retina
Articles related to Spinocerebellar Ataxia 7:(show all 12)
Clinvar genetic disease variations for Spinocerebellar Ataxia 7:5
Search GEO for disease gene expression data for Spinocerebellar Ataxia 7.
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:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet