You are using an outdated browser. Please upgrade your browser to improve your experience.

spinocerebellar ataxia type 7

Disease Summary
Associated Targets (34)
Tbio

24

Tchem

7

Tclin

2

Tdark

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
Uniprot Description 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008120:  spinocerebellar ataxia type 7
GARD:0004955: 
NCIT:C126562: 
Orphanet:94147: 
SCTID:715726000: 
UMLS:C0752125: