Details of Disease

General Information of Disease (ID: DISVLG2P)

Disease Name X-linked progressive cerebellar ataxia
Synonyms olivopontocerebellar atrophy, X-linked; OPCA, X-linked; SCAX1; spinocerebellar ataxia, X-linked 1; spinocerebellar ataxia, X-linked 1, X-linked recessive; spinocerebellar ataxia, X-linked type 1
Disease Hierarchy
DISRWZ8R: X-linked cerebellar ataxia
DISVLG2P: X-linked progressive cerebellar ataxia
Disease Identifiers
MONDO ID
MONDO_0010547
MESH ID
C563134
UMLS CUI
C0796205
OMIM ID
302500
MedGen ID
163229
Orphanet ID
1175

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB1 TTSJIRP Supportive X-linked [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJB1 OT0F7OLN Supportive X-linked [1]
ATP2B3 OT9DIEOP Strong X-linked [2]
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References

1 Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16.
2 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14514-9. doi: 10.1073/pnas.1207488109. Epub 2012 Aug 21.