Details of Disease

General Information of Disease (ID: DISC886M)

• Disease Name: Hereditary spastic paraplegia 49
• Synonyms: spastic paraplegia 49, autosomal recessive; neuropathy, hereditary sensory and autonomic, type IX, with developmental delay; TECPR2 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in TECPR2; autosomal recessive spastic paraplegia 49; autosomal recessive spastic paraplegia type 49; SPG49; hereditary spastic paraplegia type 49; hereditary spastic paraplegia 49
• Definition: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISGZQV1: Hereditary spastic paraplegia
  DISC886M: Hereditary spastic paraplegia 49
• Disease Identifiers:
  MONDO ID: MONDO_0014016
  UMLS CUI: C3542549
  OMIM ID: 615031
  MedGen ID: 762260
  Orphanet ID: 320385

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
TECPR2	OT1UFECZ	Strong	Autosomal recessive	[1]

References

• [1] Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.