Disease #00108

Official abbreviation DYT
Name dystonia (DYT)
OMIM ID -
Inheritance -
Individuals reported having this disease 95
Phenotype entries for this disease 137
Associated with 1 gene GNAL
Associated tissues -
Disease features -
Remarks -


Individuals

95 entries on 1 page. Showing entries 1 - 95.
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Genes screened

Variants in genes

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Owner     
00000368 - - - - - United States African American - - - - DYT - GNAL - 0 9 Satya Vemula
00016401 - - - - - Germany - - 0 - - DYT - GNAL, THAP1, TOR1A TOR1A 1 1 Philip Seibler
00016402 - - - - - Germany - - 0 - - DYT - GNAL, THAP1, TOR1A TOR1A 1 1 Philip Seibler
00133724 - PubMed: DeBerardinis - M - - white - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133727 - PubMed: Hedrich 2004 large family (5 affecteds) alcohol sensitive; 3 affecteds tested express mutant allele only, one unaffected the normal allele - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133728 - PubMed: Hedrich 2004, PubMed: Gerrits 2006 - - - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133729 - PubMed: Schule 2004 3 generation family (5affecteds) - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133730 - PubMed: Tezenas 2005 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133731 - PubMed: Tezenas 2005 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133732 - Subm. Marechal - - - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133733 - PubMed: Tezenas 2005 - M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133734 - PubMed: Tezenas 2005 5 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133735 - Subm. Marechal - - - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133736 - PubMed: Cif large family (7 affecteds) - - - - - 0 - - DYT - SGCE SGCE 1 7 Johan den Dunnen
00133737 - PubMed: Asmus 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133738 - PubMed: Tezenas 2005 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133739 - PubMed: Tezenas 2005 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133740 - PubMed: Asmus - - - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133741 - PubMed: Valente 2005, OMIM:var0001 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133742 - PubMed: Zimprich, OMIM:var0001 3 affecteds (2 male 1 F), east Bavaria - - Germany - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133743 - PubMed: Valente 2005, OMIM:var0001 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133744 - PubMed: Tezenas 2005 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133745 - PubMed: Tezenas 2005, {DB: Marechal} 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133746 - PubMed: Tezenas 2005 - M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133747 - PubMed: Han, OMIM:var0002 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133748 - PubMed: Zimprich, OMIM:var0002 large family 7 affecteds (4 male 3 F), north Bavaria - - Germany - - 0 - - DYT - SGCE SGCE 1 7 Johan den Dunnen
00133749 - PubMed: Hedrich 2004 unaffected carrier fathter F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133750 - PubMed: Zimprich, OMIM:var0002 large family 8 affecteds (3 male 5 F), Prussia - - Germany - - 0 - - DYT - SGCE SGCE 1 8 Johan den Dunnen
00133751 - PubMed: Han, OMIM:var0002 13 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 13 Johan den Dunnen
00133752 - PubMed: Asmus 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133753 - PubMed: Asmus 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133754 - PubMed: Asmus 5 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133755 - PubMed: Hedrich 2004, PubMed: Gerrits 2006 affected sister M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133756 - PubMed: Tezenas 2005 5 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133762 - PubMed: Zimprich, OMIM:var0004 4 affecteds (2 male 2 F) - - Germany - - 0 - - DYT - SGCE SGCE 1 4 Johan den Dunnen
00133763 - PubMed: Marechal 4 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 4 Johan den Dunnen
00133764 - PubMed: Tezenas 2005 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133765 - PubMed: Tezenas 2005 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133767 - PubMed: Asmus 2005, OMIM:var0010 3 generation family (7 affecteds) - - - - - 0 - - DYT - SGCE SGCE 1 7 Johan den Dunnen
00133768 - PubMed: Valente 2005 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133769 - PubMed: Zimprich, OMIM:var0003 large family 11 affecteds (9 male 2 F) - - Germany - - 0 - - DYT - SGCE SGCE 1 11 Johan den Dunnen
00133770 - Subm. Marechal - - - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133771 - PubMed: Klein, PubMed: Doheny OMIM:var0006 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133772 - PubMed: Gerrits 2006 - M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133773 - PubMed: Muller, PubMed: Kock carrier father expresses normal allele only F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133774 - PubMed: Asmus 2005, OMIM:var0011 2 affected sisters - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133775 - Subm. Marechal - - - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133776 - PubMed: Doheny 5 affecteds, change submitted by authors - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133777 - PubMed: Asmus 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133778 - PubMed: Tezenas 2005 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133779 - PubMed: Gerrits 2006 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133780 - PubMed: Tezenas 2005 - M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133781 - PubMed: Zimprich 4 affecteds (3 male 1 F) - - Germany - - 0 - - DYT - SGCE SGCE 1 4 Johan den Dunnen
00133782 - PubMed: Gerrits 2006 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133783 - PubMed: Asmus 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133784 - PubMed: Doheny large family, 8 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 8 Johan den Dunnen
00133785 - PubMed: Han 6 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 6 Johan den Dunnen
00133786 - PubMed: Klein, OMIM:var0005 8 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 8 Johan den Dunnen
00133787 - PubMed: Tezenas 2005 2 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133788 - PubMed: Asmus 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133789 - PubMed: Gerrits 2006 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133790 - PubMed: Foncke, PubMed: Doheny, OMIM:var0007 5 generation family (5 affecteds) - - - - - 0 - - DYT - SGCE SGCE 1 5 Johan den Dunnen
00133791 - PubMed: Gerrits 2006 - M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133792 - PubMed: Muller - F - - - - 0 - - DYT - SGCE SGCE 1 2 Johan den Dunnen
00133793 - PubMed: Schule 2004 3 generation family (6 affecteds) - - - - - 0 - - DYT - SGCE SGCE 1 6 Johan den Dunnen
00133794 - PubMed: Hjermind, OMIM:var0008 2 related families (9 affecteds) - - - - - 0 - - DYT - SGCE SGCE 1 9 Johan den Dunnen
00133795 - PubMed: Valente 2005, OMIM:var0009 - F - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133796 - PubMed: Tezenas 2005 3 affecteds - - - - - 0 - - DYT - SGCE SGCE 1 3 Johan den Dunnen
00133797 - PubMed: Valente 2005, OMIM:var0009 - M - - - - 0 - - DYT - SGCE SGCE 1 1 Johan den Dunnen
00133798 - - - - - Netherlands - - 0 - - DYT - SGCE SGCE 1 1 Ieke Ginjaar
00163651 ? PubMed: Linazasoro 2002, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163652 ? PubMed: Zaremba 2004, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163653 ? PubMed: Pittock 2000, PubMed: Brashear 2007 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163654 ? PubMed: Dobyns 1993, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163655 ? PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163656 ? PubMed: Brashear 1997, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163657 ? PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163658 ? PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163659 ? PubMed: Tarsy 2010 - - - - Africa Caribbean - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163660 ? PubMed: Kamm 2008 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163661 ? PubMed: Svetel 2010 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163662 ? PubMed: Anselm 2009 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00163663 ? PubMed: Blanco-Arias 2009 - - - - - - 0 - - DYT - ATP1A3 ATP1A3 1 1 Johan den Dunnen
00170840 0000178605 PubMed: Gauthier 2018 - M - Italy - 31y 0 - - DYT Mild Upper Limb Tremor, Lower Limb pyramidal signs - VPS13D 2 2 Inge Meijer
00170841 0000178606 PubMed: Gauthier 2018 - F - Italy - 29y 0 - - DYT Upper limb tremor, Spastic paraparesis and dystonia, gait scissoring - VPS13D 2 1 Inge Meijer
00170843 0000178603 PubMed: Gauthier 2018 - F - Egypt - 09y 0 - - DYT Gait instability, Ataxia, muscle weakness, Mild Intellectual Disability, Motor delay - VPS13D 2 1 Inge Meijer
00170844 0000178604 PubMed: Gauthier 2018 - F - ? (unknown) European 03y 0 - - DYT Generalized dystonia and chorea, Global developmental delay - VPS13D 2 1 Inge Meijer
00230578 - - - - - - - - 0 - - DYT - TOR1A TOR1A 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00240409 FamA PubMed: Heimer 2016 2-generation family, 1 affected M no - Ashkenazi jewish - 0 - - DYT see paper; …, onset dystonia early childhood, onset optic atrophy mid childhood, no intellectual disability; MRI bilateral hyperintense T2 signal putamen MECR MECR 2 1 Johan den Dunnen
00240410 FamB PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Ashkenazi jewish (Morocco/India);Ashkenazi jewish - 0 - - DYT see paper; …, 15m-onset dystonia; no optic atrophy, no intellectual disability; MRI bilateral hyperintense pallidal T2 signal MECR MECR 2 1 Johan den Dunnen
00240411 FamCPatII2 PubMed: Heimer 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - Ashkenazi jewish - 0 - - DYT see paper; …, 2y-3y-onset dystonia; 8y onset optic atrophy, no intellectual disability; MRI bilateral hyperintense T2 signal dorsal striatum MECR MECR 2 2 Johan den Dunnen
00240412 FamCPatII8 PubMed: Heimer 2016 Pat2 M no - Ashkenazi jewish - 0 - - DYT see paper; …, 5y-onset dystonia; 12y onset optic atrophy, no intellectual disability MECR MECR 2 1 Johan den Dunnen
00240413 FamD PubMed: Heimer 2016 2-generation family, 1 affected F no Tunisia - - 0 - - DYT see paper; …, 6y6m-onset dystonia; 6y6m-onset optic atrophy, no intellectual disability (mild concentration difficulties); MRI bilateral hyperintense T2 signal dorsal putamen MECR MECR 1 1 Johan den Dunnen
00240414 FamEPatII1 PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Anglo-Saxon - 0 - - DYT see paper; …, 23m-onset dystonia; 6y-onset optic atrophy; deterioration linguistic skills and executive functions to extremely low range (9y); MRI bilateral hyperintense pallidal T2 signal with cavitation and lactate peak on MRS MECR MECR 2 2 Johan den Dunnen
00240415 FamEPatII3 PubMed: Heimer 2016 Pat2 M - United Kingdom (Great Britain) Anglo-Saxon - 0 - - DYT see paper; …, 3y-onset dystonia; 5y-onset optic atrophy; low average verbal comprehension with extremely low function on other WISC IV indices; MRI bilateral hyperintense pallidal T2 signal with lactate peak on MRS MECR MECR 2 1 Johan den Dunnen
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