Details of Disease | DrugMAP

General Information of Disease (ID: DISZ8VFC)

Disease Name	Spastic paraplegia 89, autosomal recessive
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISZ8VFC: Spastic paraplegia 89, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0957274 UMLS CUI C5830531 OMIM ID 620379 MedGen ID 1841167

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
AMFR	OTQRX7LC	Strong	Autosomal recessive	[1]
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References

1	AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29.