Disease #03268 (PKDYS1;DTDS (Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS))), OMIM:613135)

Official abbreviation PKDYS1;DTDS
Name Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS))
OMIM ID 613135
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease 12
Associated with 1 gene SLC6A3
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Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00117474 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Esther Meyer
00117475 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 2 1 Esther Meyer
00117476 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Esther Meyer
00117477 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 3 1 Esther Meyer
00117478 - PubMed: Kurian 2010 - - - Turkey Turkish - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Esther Meyer
00117479 - PubMed: Kurian 2009 - - - Pakistan Pakistani - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Johan den Dunnen
00117480 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Johan den Dunnen
00117481 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Derek Lim
00117482 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Esther Meyer
00117483 - PubMed: Kurian 2010 - - - - European, mixed - 0 - - PKDYS1;DTDS Dopamine Transporter deficiency syndrome SLC6A3 SLC6A3 1 1 Esther Meyer
00265597 DTDS-SLC6A3 PubMed: Heidari 2020 4-generation family, 2 affected, unaffected heterozygous carrier parents/relatives F yes Iran Persian - 0 - - PKDYS1;DTDS HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451 SLC6A3 SLC6A3 1 1 Ehsan Razmara
00408972 1 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - PKDYS1;DTDS infantile-onset rigidity, dystonia, or chorea; dopamine non-responsive parkinsonism; progressive frontal lobe degeneration SLC6A3 SLC6A3 1 1 LOVD
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