Details of Disease

General Information of Disease (ID: DIS2QRMP)

• Disease Name: Hereditary spastic paraplegia 74
• Synonyms: spastic paraplegia 74, autosomal recessive; autosomal recessive spastic paraplegia type 74; IBA57 hereditary spastic paraplegia; hereditary spastic paraplegia type 74; autosomal recessive spastic paraplegia 74; hereditary spastic paraplegia caused by mutation in IBA57; SPG74
• Definition: Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISGZQV1: Hereditary spastic paraplegia
  DIS2QRMP: Hereditary spastic paraplegia 74
• Disease Identifiers:
  MONDO ID: MONDO_0014644
  UMLS CUI: C5568837
  OMIM ID: 616451
  MedGen ID: 1800260
  Orphanet ID: 468661
  SNOMED CT ID: 1187191003

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
IBA57	OT9SPG2X	Supportive	Autosomal recessive	[1]

References

• [1] Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology. 2015 Feb 17;84(7):659-67. doi: 10.1212/WNL.0000000000001270. Epub 2015 Jan 21.