Details of Disease | DrugMAP

General Information of Disease (ID: DIS5JMQC)

Disease Name	Spastic ataxia 4
Synonyms	autosomal recessive spastic ataxia 4; spastic ataxia 4, autosomal recessive; autosomal recessive spastic ataxia - optic atrophy - dysarthria; autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; MTPAP autosomal recessive spastic ataxia; SPAX4; autosomal recessive spastic ataxia caused by mutation in MTPAP; spastic ataxia type 4; autosomal recessive spastic ataxia type 4
Definition	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.
Disease Hierarchy	DIS6VTRF: Autosomal recessive spastic ataxia DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS5JMQC: Spastic ataxia 4
Disease Identifiers	MONDO ID MONDO_0013354 UMLS CUI C3150925 OMIM ID 613672 MedGen ID 462275 Orphanet ID 254343 SNOMED CT ID 784347002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTPAP	OT6HQ02S	Strong	Autosomal recessive	[1]
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References

1	Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.