Details of Disease

General Information of Disease (ID: DIS2JHPC)

• Disease Name: Hereditary spastic paraplegia 61
• Synonyms: spastic paraplegia 61, autosomal recessive; autosomal recessive spastic paraplegia type 61; ARL6IP1 autosomal recessive complex spastic paraplegia; autosomal recessive spastic paraplegia 61; hereditary spastic paraplegia 61; autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1; SPG61; hereditary spastic paraplegia type 61
• Definition: A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS2JHPC: Hereditary spastic paraplegia 61
• Disease Identifiers:
  MONDO ID: MONDO_0014304
  UMLS CUI: C3810294
  OMIM ID: 615685
  MedGen ID: 816624
  Orphanet ID: 401780
  SNOMED CT ID: 726611001

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
ARL6IP1	OT536XAV	Strong	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.