Details of Disease

General Information of Disease (ID: DISYXFE3)

• Disease Name: Atypical juvenile parkinsonism
• Definition: Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.
• Disease Hierarchy:
  DISHGY45: Parkinsonian disorder
  DISYXFE3: Atypical juvenile parkinsonism
• Disease Identifiers:
  MONDO ID: MONDO_0018321
  UMLS CUI: C4510873
  MedGen ID: 1380105
  Orphanet ID: 391411
  SNOMED CT ID: 725146001

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
DNAJC6	OT1P6ZIE	Supportive	Autosomal recessive	[1]
PODXL	OTPNQXF3	Supportive	Autosomal recessive	[2]
SYNJ1	OTTE02XC	Supportive	Autosomal recessive	[3]
ATP13A2	OTKWBUGK	moderate	Genetic Variation	[4]

References

• [1] A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1.
• [2] Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism. J Med Genet. 2016 Jul;53(7):450-6. doi: 10.1136/jmedgenet-2015-103459. Epub 2016 Feb 10.
• [3] The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat. 2013 Sep;34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19.
• [4] Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21.