Details of Disease

General Information of Disease (ID: DISCCQZY)

• Disease Name: Hereditary spastic paraplegia 35
• Synonyms: spastic paraplegia 35, autosomal recessive; leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; SPG35; hereditary spastic paraplegia 35; hereditary spastic paraplegia caused by mutation in FA2H; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; hereditary spastic paraplegia type 35; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; FA2H hereditary spastic paraplegia
• Definition: Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DISCCQZY: Hereditary spastic paraplegia 35
• Disease Identifiers:
  MONDO ID: MONDO_0012866
  MESH ID: C567311
  UMLS CUI: C3496228
  OMIM ID: 612319
  MedGen ID: 501249
  Orphanet ID: 171629
  SNOMED CT ID: 764688002

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
FA2H	OT8HA13U	Definitive	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.