Details of Disease | DrugMAP

General Information of Disease (ID: DIS8JTK7)

Disease Name	Autosomal recessive spinocerebellar ataxia 7
Synonyms	childhood onset autosomal recessive slowly progressive spinocerebellar ataxia; childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia; spinocerebellar ataxia, autosomal recessive 7; spinocerebellar ataxia autosomal recessive 7; spinocerebellar ataxia, autosomal recessive type 7; SCAR7; autosomal recessive spinocerebellar ataxia type 7
Definition	Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
Disease Hierarchy	DISWBOUC: Autosomal recessive cerebellar ataxia DIS8JTK7: Autosomal recessive spinocerebellar ataxia 7
Disease Identifiers	MONDO ID MONDO_0012235 MESH ID C563753 UMLS CUI C1836474 OMIM ID 609270 MedGen ID 324520 Orphanet ID 284324 SNOMED CT ID 785301002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TPP1	TTOVYPT	Limited	GermlineCausalMutation	[1]
TPP1	TTOVYPT	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TPP1	OT2LQ771	Supportive	Autosomal recessive	[1]
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References

1	Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.