Details of Disease | DrugMAP

General Information of Disease (ID: DISVB8NO)

Disease Name	Hereditary spastic paraplegia 6
Synonyms	familial spastic paraplegia autosomal dominant 3; spastic paraplegia 6; familial spastic paraplegia, autosomal dominant, 3; spastic paraplegia 6, autosomal dominant; NIPA1 hereditary spastic paraplegia; hereditary spastic paraplegia type 6; autosomal dominant spastic paraplegia 6; autosomal dominant spastic paraplegia type 6; FSP3; hereditary spastic paraplegia caused by mutation in NIPA1; autosomal dominant familial spastic paraplegia type 3; SPG6
Definition	Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Disease Hierarchy	DISGZQV1: Hereditary spastic paraplegia DISVB8NO: Hereditary spastic paraplegia 6
Disease Identifiers	MONDO ID MONDO_0010878 MESH ID C536866 UMLS CUI C1838192 OMIM ID 600363 MedGen ID 324965 Orphanet ID 100988 SNOMED CT ID 732949006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
NIPA1	DTYNQ50	Strong	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NIPA1	OT9ODC8X	Strong	Autosomal dominant	[1]
SPAST	OTIF3AJI	Strong	Genetic Variation	[2]
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References

1	Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat. 2005 Feb;25(2):135-41. doi: 10.1002/humu.20126.
2	Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.Neurology. 2009 Aug 4;73(5):378-84. doi: 10.1212/WNL.0b013e3181b04c6c.