Details of Disease

General Information of Disease (ID: DIS97ZN9)

• Disease Name: Hereditary spastic paraplegia 30
• Synonyms: spastic paraplegia 30, autosomal recessive; SPG30; spastic paraplegia 30, autosomal dominant; hereditary spastic paraplegia type 30; autosomal spastic paraplegia type 30; KIF1A hereditary spastic paraplegia; autosomal recessive spastic paraplegia 30; hereditary spastic paraplegia caused by mutation in KIF1A
• Definition: Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
• Disease Hierarchy:
  DISAVQN1: KIF1A related neurological disorder
  DISGZQV1: Hereditary spastic paraplegia
  DIS97ZN9: Hereditary spastic paraplegia 30
• Disease Identifiers:
  MONDO ID: MONDO_0012476
  UMLS CUI: C5235139
  OMIM ID: 610357
  MedGen ID: 1710020
  Orphanet ID: 101010
  SNOMED CT ID: 763377006

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
KIF1A	OT3JVEGV	Strong	Autosomal recessive	[1]

References

• [1] Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 2011 May;21(5):658-64. doi: 10.1101/gr.117143.110. Epub 2011 Apr 12.