Details of Disease | DrugMAP

General Information of Disease (ID: DIS8MMBW)

Disease Name	Autosomal recessive spastic paraplegia type 78
Synonyms	spastic paraplegia 78, autosomal recessive; hereditary spastic paraplegia caused by mutation in ATP13A2; spastic paraplegia 78, autosomal recessive; SPG78; SPG78; ATP13A2 hereditary spastic paraplegia
Definition	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS9KXQY: Complex hereditary spastic paraplegia DISGZQV1: Hereditary spastic paraplegia DIS8MMBW: Autosomal recessive spastic paraplegia type 78
Disease Identifiers	MONDO ID MONDO_0014975 UMLS CUI C5567893 OMIM ID 617225 MedGen ID 1799316 Orphanet ID 513436 SNOMED CT ID 1177168007

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
ATP13A2	OTKWBUGK	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.