Details of Disease | DrugMAP

General Information of Disease (ID: DISHC9PJ)

Disease Name	Spastic paraplegia 79A, autosomal dominant, with ataxia
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISHC9PJ: Spastic paraplegia 79A, autosomal dominant, with ataxia
Disease Identifiers	MONDO ID MONDO_0859363 UMLS CUI C5774300 OMIM ID 620221 MedGen ID 1824073

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
UCHL1	OTTCHLRJ	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UCHL1	TTX9IFP	Strong	Autosomal dominant	[1]
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References

1	Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20.