Details of Disease

General Information of Disease (ID: DISM2A1M)

• Disease Name: Hereditary spastic paraplegia 62
• Synonyms: hereditary spastic paraplegia type 62; autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1; spastic paraplegia 62, autosomal recessive; autosomal recessive spastic paraplegia 62; SPG62; autosomal recessive spastic paraplegia type 62; ERLIN1 autosomal recessive pure spastic paraplegia
• Definition: Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
• Disease Hierarchy:
  DIS8X71E: Pure hereditary spastic paraplegia
  DISM2A1M: Hereditary spastic paraplegia 62
• Disease Identifiers:
  MONDO ID: MONDO_0014302
  UMLS CUI: C4284588
  OMIM ID: 615681
  MedGen ID: 924879
  Orphanet ID: 401785
  SNOMED CT ID: 765045003

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
ERLIN1	OTUOOODY	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.