Details of Disease

General Information of Disease (ID: DISQ4O7P)

• Disease Name: Hereditary spastic paraplegia 52
• Synonyms: spastic paraplegia 52, autosomal recessive; cerebral palsy, spastic quadriplegic, 6, formerly; cerebral palsy, spastic quadriplegic, 6; SPG52; hereditary spastic paraplegia 52; Spastic Paraplegia 52; AP4S1 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in AP4S1; hereditary spastic paraplegia type 52; autosomal recessive spastic paraplegia 52; spastic quadriplegic cerebral palsy 6; CPSQ6
• Definition: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DISQ4O7P: Hereditary spastic paraplegia 52
• Disease Identifiers:
  MONDO ID: MONDO_0013552
  UMLS CUI: C3279743
  OMIM ID: 614067
  MedGen ID: 481373

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
AP4S1	OTM3QBU8	Strong	Autosomal recessive	[1]
AP4E1	OT4DUNVU	Definitive	Genetic Variation	[2]
AP4M1	OT2BG2Z3	Definitive	Biomarker	[2]

References

• [1] Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.
• [2] Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11.