Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SPINOCEREBELLAR ATAXIA 5
Synonyms

SCA5
ID

http://purl.bioontology.org/ontology/OMIM/600224
altLabel

SCA5
cui

C0752123
Gene Locus

11q13
Gene Symbol

SCAR14

SPTBN2

SCA5
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU036543

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

http://purl.bioontology.org/ontology/OMIM/MTHU000948

http://purl.bioontology.org/ontology/OMIM/MTHU006555

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

http://purl.bioontology.org/ontology/OMIM/MTHU006791

http://purl.bioontology.org/ontology/OMIM/MTHU000136

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000926

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

http://purl.bioontology.org/ontology/OMIM/MTHU068218

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

http://purl.bioontology.org/ontology/OMIM/MTHU006561

http://purl.bioontology.org/ontology/OMIM/MTHU006556

http://purl.bioontology.org/ontology/OMIM/MTHU001776

http://purl.bioontology.org/ontology/OMIM/MTHU006560

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU036372

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

Phenotype description, molecular basis known.
notation

600224
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPINOCEREBELLAR ATAXIA 5
Scope Statement

Variable age at onset (range 10 to 50 years) [MISCELLANEOUS]

Genetic anticipation has been observed [MISCELLANEOUS]

Maternal anticipation bias [MISCELLANEOUS]

Infantile onset (in 2 unrelated patients) [MISCELLANEOUS]

Caused by mutation in the nonerythrocytic beta 2 spectrin gene (SPTBN2, 604985.0001) [MOLECULAR BASIS]

Slowly progressive disorder [MISCELLANEOUS]

Patients retain ambulation even after long disease course [MISCELLANEOUS]
tui

T047
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