Details of Disease

General Information of Disease (ID: DISLQ516)

• Disease Name: Hereditary spastic paraplegia 57
• Synonyms: spastic paraplegia 57, autosomal recessive; spastic paraplegia due to partial TFG deficiency; hereditary spastic paraplegia type 57; TFG hereditary spastic paraplegia; autosomal recessive spastic paraplegia type 57; SPG57; autosomal recessive spastic paraplegia 57; hereditary spastic paraplegia caused by mutation in TFG
• Definition: An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISGZQV1: Hereditary spastic paraplegia
  DISLQ516: Hereditary spastic paraplegia 57
• Disease Identifiers:
  MONDO ID: MONDO_0014295
  UMLS CUI: C3714897
  OMIM ID: 615658
  MedGen ID: 811490
  Orphanet ID: 431329
  SNOMED CT ID: 723826007

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
TFG	OT2KJENI	Strong	Autosomal recessive	[1]

References

• [1] Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11.