Details of Disease | DrugMAP

General Information of Disease (ID: DISDDP9L)

Disease Name	Hereditary spastic paraplegia 8
Synonyms	spastic paraplegia 8, autosomal dominant; spastic paraplegia 8; WASHC5 hereditary spastic paraplegia; hereditary spastic paraplegia type 8; SPG8; hereditary spastic paraplegia caused by mutation in WASHC5; autosomal dominant spastic paraplegia type 8; autosomal dominant spastic paraplegia 8
Definition	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DIS8X71E: Pure hereditary spastic paraplegia DISDDP9L: Hereditary spastic paraplegia 8
Disease Identifiers	MONDO ID MONDO_0011339 MESH ID C580458 UMLS CUI C1863704 OMIM ID 603563 MedGen ID 400359 Orphanet ID 100989 SNOMED CT ID 785305006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WASHC5	OTTG1POH	Moderate	Autosomal dominant	[1]
SPAST	OTIF3AJI	Strong	Biomarker	[2]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	SPG8 mutations in Italian families: clinical data and literature review.Neurol Sci. 2020 Mar;41(3):699-703. doi: 10.1007/s10072-019-04180-z. Epub 2019 Dec 9.