Details of Disease | DrugMAP

General Information of Disease (ID: DISUEXRV)

Disease Name	Spastic paraplegia-Paget disease of bone syndrome
Definition	Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Disease Hierarchy	DISISEB5: Autosomal dominant complex spastic paraplegia DISUEXRV: Spastic paraplegia-Paget disease of bone syndrome
Disease Identifiers	MONDO ID MONDO_0018005 UMLS CUI C4511969 MedGen ID 1388986 Orphanet ID 329475 SNOMED CT ID 726622002

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
VCP	OTWIX1JU	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VCP	TTYWTI0	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain. 2012 Dec;135(Pt 12):e223; author reply e224. doi: 10.1093/brain/aws201. Epub 2012 Sep 18.