Details of Disease

General Information of Disease (ID: DISQRIBR)

• Disease Name: Hereditary spastic paraplegia 18
• Synonyms: spastic paraplegia 18; intellectual disability, motor dysfunction, and Joint contractures; spastic paraplegia 18, autosomal recessive; autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2; autosomal recessive spastic paraplegia 18; intellectual disability, motor dysfunction and joint contractures; autosomal recessive spastic paraplegia type 18; SPG18; ERLIN2 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 18
• Definition: A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISQRIBR: Hereditary spastic paraplegia 18
• Disease Identifiers:
  MONDO ID: MONDO_0012639
  MESH ID: C567628
  UMLS CUI: C2749936
  OMIM ID: 611225
  MedGen ID: 442343
  Orphanet ID: 209951
  SNOMED CT ID: 732932004

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
ERLIN2	OT551BVG	Strong	Autosomal recessive	[1]

References

• [1] A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Hum Mol Genet. 2011 May 15;20(10):1886-92. doi: 10.1093/hmg/ddr070. Epub 2011 Feb 17.