Details of Disease | DrugMAP

General Information of Disease (ID: DISPEWML)

Disease Name	Obsolete progressive cerebello-cerebral atrophy
Synonyms	PCCA
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISPEWML: Obsolete progressive cerebello-cerebral atrophy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VPS53	OTJUZSO1	Supportive	Autosomal recessive	[1]
SEPSECS	OTP0FHOV	Supportive	Autosomal recessive	[2]
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References

1	VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27.
2	Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44. doi: 10.1016/j.ajhg.2010.09.007.