Details of Disease

Disease Name

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

SCAR1; autosomal recessive spinocerebellar ataxia-1; spinocerebellar ataxia, autosomal recessive type 1; SCAN2; ataxia-oculomotor apraxia 2; ataxia-oculomotor apraxia type 2; ataxia-ocular apraxia 2; spinocerebellar ataxia with axonal neuropathy type 2; spinocerebellar ataxia, autosomal recessive 1; AOA2; SCAN 2; ataxia with oculomotor apraxia type 2

Definition

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.|See https://github.com/Orphanet/ORDO/issues/11

Disease Hierarchy

DISSYRHC: Hereditary peripheral neuropathy

DISISGZ2: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

DIS84UUI: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Disease Identifiers

MONDO ID

MONDO_0018996

MESH ID

C537308

UMLS CUI

C1853761

OMIM ID

606002

MedGen ID

340052

Orphanet ID

64753

SNOMED CT ID

725408001

General Information of Disease (ID: DIS84UUI)

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
PNKP	TTHR3IE	Definitive	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[2]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3R5	OT4LNXJU	Supportive	Autosomal recessive	[3]
APTX	OTPAS5G8	Strong	Biomarker	[4]
CANT1	OT1TPWQR	Definitive	Genetic Variation	[5]
DDX19A	OTBTDR44	Definitive	Genetic Variation	[6]
DDX46	OTB2X9TO	Definitive	Genetic Variation	[6]
DHX16	OTW8KZAU	Definitive	Genetic Variation	[6]
KIF1A	OT3JVEGV	Definitive	Genetic Variation	[7]
SACS	OTZGXQ8A	Definitive	Genetic Variation	[8]
SETX	OTG3JNOQ	Definitive	Autosomal recessive	[9]
SPTBN2	OTDMJ75N	Definitive	Genetic Variation	[7]
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⏷ Show the Full List of 10 DOT(s)

References

1	From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.Am J Med Genet A. 2019 Nov;179(11):2277-2283. doi: 10.1002/ajmg.a.61339. Epub 2019 Aug 22.
2	A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil.Parkinsonism Relat Disord. 2019 Apr;61:193-197. doi: 10.1016/j.parkreldis.2018.10.027. Epub 2018 Oct 26.
3	A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012 Feb;33(2):351-4. doi: 10.1002/humu.21650. Epub 2011 Dec 8.
4	Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.Nucleic Acids Res. 2019 May 7;47(8):4086-4110. doi: 10.1093/nar/gkz083.
5	Defective DNA repair and neurodegenerative disease.Cell. 2007 Sep 21;130(6):991-1004. doi: 10.1016/j.cell.2007.08.043.
6	Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.J Clin Neurosci. 2014 Sep;21(9):1627-31. doi: 10.1016/j.jocn.2013.11.048. Epub 2014 May 6.
7	Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.Brain Dev. 2019 Feb;41(2):150-157. doi: 10.1016/j.braindev.2018.09.007. Epub 2018 Oct 6.
8	Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27.
9	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.