Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/183086 http://purl.bioontology.org/ontology/OMIM/183086
Preferred Name	SPINOCEREBELLAR ATAXIA 6
Synonyms	SCA6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCA6
prefLabel	SPINOCEREBELLAR ATAXIA 6
Gene Symbol	SCA6 DEE42 CACNL1A4 CACNA1A
Scope Statement	Pathogenic alleles have 19 to 33 repeats [MISCELLANEOUS] Caused by expanded CAG trinucleotide repeats in the alpha-1A calcium channel subunit gene (CACNA1A, 601011.0007) [MOLECULAR BASIS] Caused by mutation in the alpha-1A calcium channel subunit gene (CACNA1A, 601011.0002) [MOLECULAR BASIS] Age of onset 20-65 years [MISCELLANEOUS] Genetic anticipation [MISCELLANEOUS] Normal alleles have 4 to 18 repeats [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU015572 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU015574 http://purl.bioontology.org/ontology/OMIM/MTHU000933 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU031478 http://purl.bioontology.org/ontology/OMIM/MTHU001776 http://purl.bioontology.org/ontology/OMIM/MTHU015573 See more See less
tui	T047
Gene Locus	19p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	183086
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0752124
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display