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Spinocerebellar ataxia type 6
1 OMIM reference -
1 associated gene
42 connected diseases
No signs/symptoms info
Disease Type of connection
Alternating hemiplegia of childhood
Familial or sporadic hemiplegic migraine
Benign paroxysmal torticollis of infancy
Familial paroxysmal ataxia
Episodic ataxia type 5
Juvenile myoclonic epilepsy
Cobblestone lissencephaly without muscular or ocular involvement
Congenital fibrosis of extraocular muscles
Polymicrogyria due to TUBB2B mutation
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Behavioral variant of frontotemporal dementia
CLN11 disease
Carpenter syndrome
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Duchenne muscular dystrophy
Isolated CoQ-cytochrome C reductase deficiency
Postsynaptic congenital myasthenic syndromes
Progressive non-fluent aphasia
Semantic dementia
Amyotrophic lateral sclerosis
Autosomal dominant macrothrombocytopenia
Autosomal recessive cutis laxa type 1
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Dyssegmental dysplasia, Silverman-Handmaker type
Extraskeletal myxoid chondrosarcoma
Familial drusen
Glycogen storage disease due to aldolase A deficiency
Lethal arteriopathy syndrome due to FBLN4 deficiency
Leukoencephalopathy - dystonia - motor neuropathy
Oligodontia
Schwartz-Jampel syndrome
Synpolydactyly type 2
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
X-linked non-syndromic intellectual deficit
Synonym(s):
- SCA6
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CACNA1A O00555601011
No signs/symptoms info available.