Details of Disease | DrugMAP

General Information of Disease (ID: DIS3203M)

Disease Name	Spastic paraplegia 82, autosomal recessive
Synonyms	SPG82; SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; autosomal recessive spastic paraplegia type 82
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DIS3203M: Spastic paraplegia 82, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0032906 UMLS CUI C5394037 OMIM ID 618770 MedGen ID 1710411

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PCYT2	DEIX1PO	Strong	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
PCYT2	OTT8TAEA	Strong	Autosomal recessive	[1]
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References

1	Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291.