Details of Disease | DrugMAP

General Information of Disease (ID: DISUKK0J)

Disease Name	Spastic ataxia 1
Synonyms	spastic ataxia 1, autosomal dominant; autosomal dominant spastic ataxia type 1; spastic ataxia type 1; VAMP1 autosomal dominant spastic ataxia; autosomal dominant spastic ataxia caused by mutation in VAMP1; SPAX1
Definition	Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.
Disease Hierarchy	DISTVM0U: Autosomal dominant spastic ataxia DISUKK0J: Spastic ataxia 1
Disease Identifiers	MONDO ID MONDO_0007164 UMLS CUI C1970107 OMIM ID 108600 MedGen ID 409988 Orphanet ID 251282 SNOMED CT ID 784380009

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
VAMP1	OTMHZ1WP	Strong	Autosomal dominant	[1]
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References

1	VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am J Hum Genet. 2012 Sep 7;91(3):548-52. doi: 10.1016/j.ajhg.2012.07.018.