Details of Disease

General Information of Disease (ID: DIS2AY6F)

• Disease Name: Hereditary spastic paraplegia 54
• Synonyms: spastic paraplegia 54, autosomal recessive; SPG54; autosomal recessive spastic paraplegia 54; autosomal recessive complex spastic paraplegia caused by mutation in DDHD2; autosomal recessive spastic paraplegia type 54; hereditary spastic paraplegia type 54; DDHD2 autosomal recessive complex spastic paraplegia
• Definition: A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DIS2AY6F: Hereditary spastic paraplegia 54
• Disease Identifiers:
  MONDO ID: MONDO_0014018
  UMLS CUI: C3539495
  OMIM ID: 615033
  MedGen ID: 761341
  Orphanet ID: 320380
  SNOMED CT ID: 723824005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PCYT2	DEIX1PO	Definitive	Autosomal recessive	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POU2F3	OTIOOJWD	Strong	Genetic Variation	[2]
DDHD2	OTUP0WHF	Definitive	Autosomal recessive	[2]
PCYT2	OTT8TAEA	Definitive	Autosomal recessive	[1]

References

• [1] Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain. 2020 Sep 1;143(9):e76. doi: 10.1093/brain/awaa229.
• [2] Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21.