Details of Disease

General Information of Disease (ID: DIS9ZG6T)

• Disease Name: Hereditary spastic paraplegia 63
• Synonyms: spastic paraplegia 63, autosomal recessive; autosomal recessive spastic paraplegia type 63; spastic paraplegia 63; autosomal recessive complex spastic paraplegia caused by mutation in AMPD2; SPG63; autosomal recessive spastic paraplegia 63; hereditary spastic paraplegia type 63; AMPD2 autosomal recessive complex spastic paraplegia
• Definition: An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS9ZG6T: Hereditary spastic paraplegia 63
• Disease Identifiers:
  MONDO ID: MONDO_0014305
  UMLS CUI: C3810295
  OMIM ID: 615686
  MedGen ID: 816625
  Orphanet ID: 401805
  SNOMED CT ID: 726610000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMPD2	OTBS30JU	Supportive	Autosomal recessive	[1]

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.