Details of Disease | DrugMAP

General Information of Disease (ID: DIS99GR4)

Disease Name	Spastic paraplegia 86, autosomal recessive
Synonyms	SPG86; autosomal recessive spastic paraplegia type 86; spastic paraplegia 86, autosomal recessive
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DIS99GR4: Spastic paraplegia 86, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0030673 UMLS CUI C5676910 OMIM ID 619735 MedGen ID 1801286

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
ABHD16A	OTDS9K1Z	Strong	Autosomal recessive	[1]
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References

1	ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28.