Details of Disease

General Information of Disease (ID: DISZZWA2)

• Disease Name: Hereditary spastic paraplegia 31
• Synonyms: spastic paraplegia 31; spastic paraplegia 31, autosomal dominant; hereditary spastic paraplegia type 31; autosomal dominant spastic paraplegia type 31; autosomal dominant spastic paraplegia 31; SPG31; hereditary spastic paraplegia caused by mutation in REEP1; REEP1 hereditary spastic paraplegia
• Definition: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DISZZWA2: Hereditary spastic paraplegia 31
• Disease Identifiers:
  MONDO ID: MONDO_0012453
  UMLS CUI: C1853247
  OMIM ID: 610250
  MedGen ID: 377858
  Orphanet ID: 101011
  SNOMED CT ID: 763068005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPAST	OTIF3AJI	Strong	Genetic Variation	[1]
REEP1	OTEMVFX7	Definitive	Autosomal dominant	[2]

References

• [1] Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.J Neurol Sci. 2015 Dec 15;359(1-2):35-9. doi: 10.1016/j.jns.2015.10.030. Epub 2015 Oct 17.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.