Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SPINOCEREBELLAR ATAXIA 1
Synonyms

SPINOCEREBELLAR ATROPHY I

OPCA IV

SCHUT-HAYMAKER TYPE OPCA

OPCA I

OPCA4

SCA1

MENZEL TYPE OPCA

CEREBELLOPARENCHYMAL DISORDER I

CPD1

OLIVOPONTOCEREBELLAR ATROPHY I

OPCA1

OLIVOPONTOCEREBELLAR ATROPHY IV
ID

http://purl.bioontology.org/ontology/OMIM/164400
altLabel

SPINOCEREBELLAR ATROPHY I

OPCA IV

SCHUT-HAYMAKER TYPE OPCA

OPCA I

OPCA4

SCA1

MENZEL TYPE OPCA

CEREBELLOPARENCHYMAL DISORDER I

CPD1

OLIVOPONTOCEREBELLAR ATROPHY I

OPCA1

OLIVOPONTOCEREBELLAR ATROPHY IV
cui

C0752120
Gene Locus

6p23
Gene Symbol

ATXN1

SCA1

ATX1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000929

http://purl.bioontology.org/ontology/OMIM/MTHU012787

http://purl.bioontology.org/ontology/OMIM/MTHU003179

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU001775

http://purl.bioontology.org/ontology/OMIM/MTHU015558

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU015560

http://purl.bioontology.org/ontology/OMIM/MTHU003622

http://purl.bioontology.org/ontology/OMIM/MTHU006559

http://purl.bioontology.org/ontology/OMIM/MTHU004325

http://purl.bioontology.org/ontology/OMIM/MTHU011631

http://purl.bioontology.org/ontology/OMIM/MTHU000945

http://purl.bioontology.org/ontology/OMIM/MTHU008111

http://purl.bioontology.org/ontology/OMIM/MTHU015556

http://purl.bioontology.org/ontology/OMIM/MTHU008076

http://purl.bioontology.org/ontology/OMIM/MTHU000933

http://purl.bioontology.org/ontology/OMIM/MTHU001336

http://purl.bioontology.org/ontology/OMIM/MTHU012047

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU000284

http://purl.bioontology.org/ontology/OMIM/MTHU000616

http://purl.bioontology.org/ontology/OMIM/MTHU000282

http://purl.bioontology.org/ontology/OMIM/MTHU015559

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU016556

http://purl.bioontology.org/ontology/OMIM/MTHU005095

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU016554

http://purl.bioontology.org/ontology/OMIM/MTHU015562

http://purl.bioontology.org/ontology/OMIM/MTHU016555

http://purl.bioontology.org/ontology/OMIM/MTHU002752

http://purl.bioontology.org/ontology/OMIM/MTHU000928
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

164600
notation

164400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPINOCEREBELLAR ATAXIA 1
Scope Statement

Paternal anticipation bias [MISCELLANEOUS]

Onset in third or fourth decade [MISCELLANEOUS]

Genetic anticipation [MISCELLANEOUS]

Caused by expanded CAG trinucleotide repeats in the ataxin-1 gene (ATX1, 601556.0001) [MOLECULAR BASIS]
tui

T047
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