Details of Disease | DrugMAP

General Information of Disease (ID: DISV2XDB)

Disease Name	Spastic paraplegia 90B, autosomal recessive
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISV2XDB: Spastic paraplegia 90B, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0957309 UMLS CUI C5830578 OMIM ID 620417 MedGen ID 1841214

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
SPTSSA	OT2PNKOP	Limited	Unknown	[1]
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References

1	SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460.