Details of Disease

Disease Name

Autosomal dominant cerebellar ataxia type II

olivopontocerebellar atrophy 3; OPCA III; OPCA with macular Degeneration and external ophthalmoplegia; OPCA 3; OPCA3; ADCA, type II; OPCA with retinal Degeneration; autosomal dominant cerebellar ataxia, type 2; Adca, type 2; spinocerebellar ataxia 7; ADCAII; autosomal dominant cerebellar ataxia type 2; spinocerebellar ataxia type 7; autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7; SCA7; ATXN7 autosomal dominant cerebellar ataxia type II; ADCA2; ataxia with pigmentary retinopathy; autosomal dominant cerebellar ataxia type II; cerebellar syndrome-pigmentary maculopathy syndrome

Disease Hierarchy

DISYMHUK: Spinocerebellar ataxia

DIS0PM39: Autosomal dominant cerebellar ataxia type II

Disease Identifiers

MONDO ID

MONDO_0016163

MESH ID

D020754

UMLS CUI

C0752125

OMIM ID

164500

MedGen ID

156006

Orphanet ID

208508

SNOMED CT ID

1156796002

General Information of Disease (ID: DIS0PM39)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FOXC1	TTNT3YA	Limited	Biomarker	[1]
TAF2	TTHMP8B	Limited	Biomarker	[2]
ATXN2	TTPQJ7P	Strong	Biomarker	[3]
ATXN3	TT6A17J	Strong	Biomarker	[4]
CACNA1A	TTX4QDJ	Strong	Biomarker	[5]
CASP7	TTM7Y45	Strong	Genetic Variation	[6]
PRKCG	TTRFOXJ	Strong	Biomarker	[7]
TPP1	TTOVYPT	Strong	Genetic Variation	[8]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APLP2	OTTFE53M	Limited	Biomarker	[9]
ATG12	OTJRO09Y	Limited	Biomarker	[10]
CIC	OTFXCHNZ	Limited	Biomarker	[11]
CRX	OTH435SV	Limited	Altered Expression	[12]
DNAJA1	OT38BZQQ	Limited	Altered Expression	[13]
DPYSL3	OTINJV20	Limited	Biomarker	[14]
GFI1	OT9HB9H8	Limited	Biomarker	[15]
PCP2	OT3LUE9M	Limited	Biomarker	[16]
PPP2R2B	OTSFVC82	Limited	Biomarker	[17]
PRPF8	OTU39JZI	Limited	Genetic Variation	[18]
RBM17	OT9ROJCL	Limited	Biomarker	[11]
RNF4	OTCMXQRE	Limited	Biomarker	[19]
SPTLC3	OTZDX6PT	Limited	Biomarker	[2]
SUPT3H	OT7B6FRO	Limited	Biomarker	[2]
TRRAP	OT68OI2Y	Limited	Biomarker	[2]
TTBK2	OT90YSM5	Disputed	Biomarker	[20]
AFG3L2	OTRPMAUX	Strong	Biomarker	[21]
ATXN1	OTQF0HNR	Strong	Altered Expression	[4]
KAT2A	OTN0W2SW	Strong	Altered Expression	[22]
LY6E	OTMG16BZ	Strong	Genetic Variation	[23]
SUMO2	OT1Y5IKN	Strong	Biomarker	[19]
ATXN1L	OTYIHGTD	Definitive	Therapeutic	[24]
ATXN7	OTL3YF1H	Definitive	Autosomal dominant	[25]
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⏷ Show the Full List of 23 DOT(s)

References

1	FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.
2	Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment.J Neurosci. 2009 Dec 2;29(48):15134-44. doi: 10.1523/JNEUROSCI.4720-09.2009.
3	Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.Arch Neurol. 2010 Jan;67(1):114-5. doi: 10.1001/archneurol.2009.291.
4	Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.
5	The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.Med Hypotheses. 2007;68(1):131-6. doi: 10.1016/j.mehy.2006.06.014. Epub 2006 Aug 8.
6	Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.Hum Mol Genet. 2015 Jul 15;24(14):3908-17. doi: 10.1093/hmg/ddv121. Epub 2015 Apr 9.
7	Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. Genes Cells. 2010 May;15(5):425-38. doi: 10.1111/j.1365-2443.2010.01395.x. Epub 2010 Apr 11.
8	Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.Seizure. 2019 Jul;69:180-185. doi: 10.1016/j.seizure.2018.08.027. Epub 2018 Sep 2.
9	Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7).Neurobiol Dis. 2011 Jan;41(1):33-42. doi: 10.1016/j.nbd.2010.08.016. Epub 2010 Aug 20.
10	The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.Acta Neuropathol. 2014 Nov;128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24.
11	Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.Nature. 2008 Apr 10;452(7188):713-8. doi: 10.1038/nature06731. Epub 2008 Mar 12.
12	Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.Neuron. 2001 Sep 27;31(6):913-27. doi: 10.1016/s0896-6273(01)00422-6.
13	Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.Eur J Hum Genet. 2014 Dec;22(12):1369-75. doi: 10.1038/ejhg.2014.39. Epub 2014 Mar 26.
14	Comparison of microarray-based mRNA profiling technologies for identification of psychiatric disease and drug signatures.J Neurosci Methods. 2004 Sep 30;138(1-2):173-88. doi: 10.1016/j.jneumeth.2004.04.002.
15	The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.Cell. 2005 Aug 26;122(4):633-44. doi: 10.1016/j.cell.2005.06.012.
16	Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.
17	The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission.J Biol Chem. 2008 Dec 26;283(52):36241-8. doi: 10.1074/jbc.M800989200. Epub 2008 Oct 21.
18	Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.Ophthalmic Genet. 2005 Jun;26(2):91-100. doi: 10.1080/13816810590968032.
19	SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.Dis Model Mech. 2019 Jan 11;12(1):dmm036145. doi: 10.1242/dmm.036145.
20	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25.
21	Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
22	Histone acetylation, acetyltransferases, and ataxia--alteration of histone acetylation and chromatin dynamics is implicated in the pathogenesis of polyglutamine-expansion disorders.Adv Protein Chem Struct Biol. 2010;79:165-203. doi: 10.1016/S1876-1623(10)79005-2.
23	Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation.Muscle Nerve. 1999 Jun;22(6):712-7. doi: 10.1002/(sici)1097-4598(199906)22:6<712::aid-mus7>3.0.co;2-0.
24	Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar;39(3):373-9. doi: 10.1038/ng1977. Epub 2007 Feb 18.
25	Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature. 1995 Nov 23;378(6555):403-6. doi: 10.1038/378403a0.