Details of Disease

General Information of Disease (ID: DIS3DFPG)

• Disease Name: Hereditary spastic paraplegia 51
• Synonyms: cerebral palsy, spastic quadriplegic, 4; cerebral palsy, spastic quadriplegic, 4, formerly; spastic paraplegia 51, autosomal recessive; AP4E1 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in AP4E1; hereditary spastic paraplegia type 51; Spastic Paraplegia 51; spastic quadriplegic cerebral palsy 4; autosomal dominant spastic paraplegia 51; CPSQ4; SPG51
• Definition: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DIS3DFPG: Hereditary spastic paraplegia 51
• Disease Identifiers:
  MONDO ID: MONDO_0013401
  UMLS CUI: C3151056
  OMIM ID: 613744
  MedGen ID: 462406

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

References

• [1] Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet. 2011 Feb;48(2):141-4. doi: 10.1136/jmg.2010.082263. Epub 2010 Oct 23.
• [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.