Details of Disease

General Information of Disease (ID: DISWGEU6)

• Disease Name: Hereditary spastic paraplegia 3A
• Synonyms: Strumpell disease; spastic paraplegia 3; spastic paraplegia 3, autosomal dominant; familial spastic paraplegia, autosomal dominant, 1; Spg3; strumpell disease; SPG3A; autosomal dominant spastic paraplegia type 3; spastic paraplegia 3a, autosomal dominant; FSP1; Strmpell disease; hereditary spastic paraplegia caused by mutation in ATL1; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; ATL1 hereditary spastic paraplegia; hereditary spastic paraplegia type 3A; spastic Paraplegia 3A
• Definition: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DISWGEU6: Hereditary spastic paraplegia 3A
• Disease Identifiers:
  MONDO ID: MONDO_0008437
  MESH ID: C536864
  UMLS CUI: C2931355
  OMIM ID: 182600
  MedGen ID: 419393
  Orphanet ID: 100984
  SNOMED CT ID: 782670003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPAST	OTIF3AJI	moderate	Biomarker	[1]
REEP1	OTEMVFX7	Strong	Genetic Variation	[2]
ATL1	OTR2788Y	Definitive	Semidominant	[3]

References

• [1] Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.Hong Kong Med J. 2009 Aug;15(4):304-7.
• [2] 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.
• [3] 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.