General Information of Disease (ID: DIS2QZI9)

Disease Name Autosomal recessive spastic paraplegia type 59
Synonyms SPG59
Disease Hierarchy
DIS9KXQY: Complex hereditary spastic paraplegia
DIS2QZI9: Autosomal recessive spastic paraplegia type 59
Disease Identifiers
MONDO ID
MONDO_0018416
UMLS CUI
C4750857
MedGen ID
1669596
Orphanet ID
401795
SNOMED CT ID
773425000

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
USP8 OTOXC2IP Supportive Autosomal recessive [1]
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This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
USP8 TT1J07C Supportive Autosomal recessive [1]
USP8 TT1J07C Strong GermlineCausalMutation [1]
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References

1 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.