Details of Disease | DrugMAP

General Information of Disease (ID: DISIRRA9)

Disease Name	Spastic ataxia
Synonyms	SPAX
Disease Hierarchy	DIS6JNI3: Hereditary ataxia DISIRRA9: Spastic ataxia
Disease Identifiers	MONDO ID MONDO_0017845 MESH ID C564815 UMLS CUI C1849156 MedGen ID 376528 HPO ID HP:0002497 Orphanet ID 316226

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
TUBB2A	TTJ2PTI	Strong	Genetic Variation	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AAAS	OTJT9T23	moderate	Biomarker	[2]
AFG3L2	OTRPMAUX	moderate	Genetic Variation	[3]
DDHD2	OTUP0WHF	Strong	Biomarker	[4]
GBA2	OTOZXG5D	Strong	Biomarker	[5]
NKX6-2	OT7FI94W	Strong	Genetic Variation	[6]
POLR3A	OT5MSK10	Strong	Genetic Variation	[7]
SACS	OTZGXQ8A	Strong	Biomarker	[8]
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⏷ Show the Full List of 7 DOT(s)

References

1	Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.
2	Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.Hum Mutat. 2018 Dec;39(12):2060-2071. doi: 10.1002/humu.23658. Epub 2018 Oct 10.
3	Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13.
4	Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Sci Rep. 2014 Nov 24;4:7132. doi: 10.1038/srep07132.
5	Revealing Clusters of Connected Pathways Through Multisource Data Integration in Huntington's Disease and Spastic Ataxia.IEEE J Biomed Health Inform. 2019 Jan;23(1):26-37. doi: 10.1109/JBHI.2018.2865569. Epub 2018 Aug 30.
6	Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009.
7	POLR3A-related spastic ataxia: new mutations and a look into the phenotype.J Neurol. 2020 Feb;267(2):324-330. doi: 10.1007/s00415-019-09574-9. Epub 2019 Oct 21.
8	Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.FASEB J. 2019 Feb;33(2):2982-2994. doi: 10.1096/fj.201801556R. Epub 2018 Oct 17.