Details of Disease

General Information of Disease (ID: DISFYNHU)

• Disease Name: Obsolete AP4-related intellectual disability and spastic paraplegia
• Synonyms: severe intellectual disability and progressive spastic paraplegia; AP4 related intellectual disability and spastic paraplegia; AP4 deficiency syndrome
• Definition: OBSOLETE. A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISFYNHU: Obsolete AP4-related intellectual disability and spastic paraplegia

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP4B1	OTGJUIRA	Supportive	Autosomal recessive	[1]
AP4E1	OT4DUNVU	Supportive	Autosomal recessive	[2]
AP4M1	OT2BG2Z3	Supportive	Autosomal recessive	[3]
AP4S1	OTM3QBU8	Supportive	Autosomal recessive	[4]

References

• [1] Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.
• [2] 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.
• [3] Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25.
• [4] 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.