KEGG DISEASE: Infantile-onset parkinsonism-dystonia

DISEASE: Infantile-onset parkinsonism-dystonia

Entry

H02676                      Disease

Name

Infantile-onset parkinsonism-dystonia

Description

Infantile-onset parkinsonism-dystonia (PKDYS) is a heterogeneous group of inherited disorders characterized by abnormal movements, including parkinsonism, dystonia, and developmental delay.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A02  Dystonic disorders
    H02676  Infantile-onset parkinsonism-dystonia
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06028  Dopamine and serotonin metabolism
   H02676  Infantile-onset parkinsonism-dystonia

Pathway

hsa04728 Dopaminergic synapse

Network

nt06028 Dopamine and serotonin metabolism

Gene

(PKDYS1) SLC6A3 [HSA:6531] [KO:K05036]
(PKDYS2) SLC18A2 [HSA:6571] [KO:K08155]
(PKDYS3) WARS2 [HSA:10352] [KO:K01867]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:19478460 (PKDYS1)

Authors

Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER

Title

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Journal

J Clin Invest 119:1595-603 (2009)
DOI:10.1172/JCI39060

Reference

PMID:23363473 (PKDYS2)

Authors

Rilstone JJ, Alkhater RA, Minassian BA

Title

Brain dopamine-serotonin vesicular transport disease and its treatment.

Journal

N Engl J Med 368:543-50 (2013)
DOI:10.1056/NEJMoa1207281

Reference

PMID:34890876 (PKDYS3)

Authors

Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R

Title

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Journal

Parkinsonism Relat Disord 94:54-61 (2022)
DOI:10.1016/j.parkreldis.2021.11.030

LinkDB

» Japanese version

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