Details of Disease

General Information of Disease (ID: DISUX01X)

• Disease Name: Parkinsonism-dystonia, infantile
• Synonyms: dopamine transporter deficiency syndrome; parkinsonism-dystonia, infantile; PARKINSONISM-dystonia, infantile; infantile Parkinsonism-dystonia; PKDYS; Parkinsonism-dystonia infantile; IPD
• Definition: Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
• Disease Hierarchy:
  DISHGY45: Parkinsonian disorder
  DIS6SVEE: Syndromic disease
  DISD44TL: Combined dystonia
  DISUX01X: Parkinsonism-dystonia, infantile
• Disease Identifiers:
  MONDO ID: MONDO_0013150
  MESH ID: C567730
  UMLS CUI: C2751067
  MedGen ID: 413468
  Orphanet ID: 238455
  SNOMED CT ID: 722763000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC6A3	TTVBI8W	Limited	Biomarker	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A3	DT3BA8L	Supportive	Autosomal recessive	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC6A3	OT39XG28	Supportive	Autosomal recessive	[2]
PRKRA	OTUTVZZU	Strong	Genetic Variation	[3]
TAF1	OTDYS5G4	Strong	Genetic Variation	[3]

References

• [1] The SUMO-Conjugase Ubc9 Prevents the Degradation of the Dopamine Transporter, Enhancing Its Cell Surface Level and Dopamine Uptake.Front Cell Neurosci. 2019 Feb 8;13:35. doi: 10.3389/fncel.2019.00035. eCollection 2019.
• [2] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [3] Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.Eur J Neurol. 2015 Apr;22(4):610-7. doi: 10.1111/ene.12650. Epub 2015 Jan 29.