Details of Disease

General Information of Disease (ID: DISJGOU9)

• Disease Name: Hereditary spastic paraplegia 43
• Synonyms: spastic paraplegia 43, autosomal recessive; SPG43; hereditary spastic paraplegia type 43; autosomal recessive spastic paraplegia type 43; autosomal recessive spastic paraplegia 43; autosomal recessive complex spastic paraplegia caused by mutation in C19orf12; C19orf12 autosomal recessive complex spastic paraplegia
• Definition: Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISJGOU9: Hereditary spastic paraplegia 43
• Disease Identifiers:
  MONDO ID: MONDO_0014024
  UMLS CUI: C2680446
  OMIM ID: 615043
  MedGen ID: 760531
  Orphanet ID: 320370
  SNOMED CT ID: 764736001

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
C19orf12	OTVSJ1AR	Limited	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.