Disease #01068 (MNK (Menkes disease), OMIM:309400)

Official abbreviation MNK
Name Menkes disease
OMIM ID 309400
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 339
Phenotype entries for this disease 339
Associated with 1 gene ATP7A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

339 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00312102 - PubMed: Gerard-Blanluet 2004 single case - - - - - - - - MNK Classical, horns at 2.5y ATP7A ATP7A 1 1 Zeynep Tümer
00312103 - PubMed: Tümer 1997 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312104 - PubMed: Das 1994 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312105 - PubMed: Das 1994, PubMed: Vulpe 1993 single case - - - - - - - Cu treatment MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312106 - PubMed: Tümer 1996, PubMed: George and Casey 2001 single case, mother carrier - - - - - - - Cu treatment MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312107 pat1 PubMed: Ogawa 1999 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312108 - PubMed: Tümer 1997 familial, Mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312109 - PubMed: Tümer 1997 familial, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312110 - PubMed: Das 1994 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312111 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312112 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312113 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312114 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312115 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312116 - PubMed: Das 1994, PubMed: Kaler 1996, PubMed: Kim 2003, PubMed: Kaler 2010, PubMed: Skjørringe 2011, PubMed: Bell 2011 family, 3 members, 1 alive 18m - - - - - - - 3 members, 1 Cu treatment from day 8, normal (in 1996) MNK Classical ATP7A ATP7A 1 3 Zeynep Tümer
00312117 - PubMed: Tümer 1997 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312118 - PubMed: Gu 2007, PubMed: Gu2012 Gu 2012 (patient12) M - Japan - - - - - MNK Classical ATP7A ATP7A 1 2 Zeynep Tümer
00312119 patient 21 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312120 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312121 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312122 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312123 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312124 - PubMed: Tümer 1996 single case, mother carrier - - - - - - - Cu treatment MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312125 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312126 - PubMed: Tümer 1997 familial, sister carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312127 patient 22 PubMed: Moizard 2010 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312128 - PubMed: Zhang 2008 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312129 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312130 - PubMed: Tümer 1997 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312131 - PubMed: Gu 2001, PubMed: Skjørringe 2011 - - - - - - - - - MNK Classical ATP7A ATP7A 1 2 Zeynep Tümer
00312132 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312133 patient 3 PubMed: Mak 2002 mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312134 patient 23 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312135 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312136 - PubMed: Tümer 1997 familial, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312137 - PubMed: Gu 2001, PubMed: Gu 2002, PubMed: Skjørringe 2011 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 3 Zeynep Tümer
00312138 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312139 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312140 - PubMed: Ambrosini 1999 familial, mother carrier - - - - - - - Cu treatment; half-brother not treated MNK Classical, half-brother died 14m ATP7A ATP7A 1 1 Zeynep Tümer
00312141 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312142 - PubMed: Tümer 1997 familial - - - - - - - - MNK Classical; index 4y8m, brother 7m ATP7A ATP7A 1 1 Zeynep Tümer
00312143 - PubMed: Gu 2001, PubMed: Gu 2002 - - - - - - - - - MNK Classical ATP7A ATP7A 1 2 Zeynep Tümer
00312145 - PubMed: Das 1994 PubMed: Bell 2011 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312146 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312147 patient 9 PubMed: Kaler 2010 - - - - - - - - Cu treatment from day 7, moderate delay MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312148 - PubMed: Kaler 2009, PubMed: Kaler 2010 familial - - - - - - - Index Cu treatment 8 days>3years, normal development, occipital horns 11.5yr MNK Sibling Classical; Index alive 11y6m; sibling died 6m ATP7A ATP7A 1 2 Zeynep Tümer
00312149 patient 17 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312150 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312151 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312152 - PubMed: Gu 2001, PubMed: Gu 2002, PubMed: Gu2012 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 2 Zeynep Tümer
00312153 - PubMed: Tümer 1997 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312154 patient 11 PubMed: Kaler 2010 - - - - - - - - Cu treatment from day 16, severe delay MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312155 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312156 - PubMed: Das 1994 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312157 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312158 Patient 1 PubMed: Watanabe 2005 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312159 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312160 - PubMed: Hahn 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312161 - PubMed: Hahn 2001 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312162 patient 18 PubMed: Moizard 2010 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312163 - PubMed: Tümer 1997 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312164 - PubMed: Ogawa 2000 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312165 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312166 patient 1 PubMed: Mak 2002 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312167 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312168 - PubMed: Kim 2011 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312169 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312170 - PubMed: Tümer 1997 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312171 - PubMed: Gu 2001, PubMed: Gu 2002 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 2 Zeynep Tümer
00312172 - PubMed: Jankov 1998 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312173 patient 19 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312174 - PubMed: Gu 2001, PubMed: Gu 2002, PubMed: Gu2012 - - - - - - - - - MNK Classical ATP7A ATP7A 1 2 Zeynep Tümer
00312175 - PubMed: Ozawa 2001 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312176 - PubMed: Gu 2002 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312177 Patient2 PubMed: Watanabe 2005 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312178 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312179 patient 12 PubMed: Kaler 2010 - - - - - - - - Cu treatment from day 10 MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312180 patient 20 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312181 - PubMed: Seidel 2001 single case - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312182 - PubMed: Kaler 2008, PubMed: Kaler 2010 familial - - - - - - - Index Cu treatment from day 12, severe delays MNK Two half brothers Classical; Index alive2y; two half brothers died 1y6m and 3y ATP7A ATP7A 1 2 Zeynep Tümer
00312183 - PubMed: Tümer 1997, PubMed: de Bie 2007, PubMed: Banci 2005, PubMed: Payne 1998, PubMed: Kouza 2010 familial, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312184 - PubMed: Olivares 2006 - - - - - - - - Cu treatment from 1yr , mild improvement MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312185 patient 1 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312187 - PubMed: Donsante 2007, PubMed: de Bie 2007 familial - - - - - - - - MNK mild died at 8y and 4y; classical 2y, variable expression: 2 mild and 1 Classical male in the same family ATP7A ATP7A 1 1 Zeynep Tümer
00312188 - PubMed: Kroepfl 2006 single case - - - - - - - Cu treatment MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312189 patient 8 PubMed: Kaler 2008 familial - - - - - - - Cu treatment from day 10 >3yr, bright MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312190 - PubMed: Kaler 2008, PubMed: Kaler 2010 familial - - - - - - - Index, Cu treatment treat from day 22 > 3yr, moderate delays; maternal uncle not treated MNK Maternal uncle Classical LS; Index alive 8y; maternal uncle died 14y ATP7A ATP7A 1 2 Zeynep Tümer
00312191 patient 2 PubMed: Moizard 2010 familial - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312192 - PubMed: Hahn 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312193 - PubMed: Gu 2002 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312194 - PubMed: Skjørringe 2011 - - - - - - - - - MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312195 - PubMed: Kaler 1995, PubMed: Kaler 2010, PubMed: Skjørringe 2011 familial - - - - - - - V-2, Cu treatment from day 9; V-4, Cu treatment in utero 32w MNK Classical, V-2 alive 3y ;V-4 died 5m15d ATP7A ATP7A 1 3 Zeynep Tümer
00312196 - PubMed: Das 1994 - - - - - - - - Cu treatment MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312197 - PubMed: Tümer 1997 single case, mother carrier - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312198 - PubMed: Gu 2001 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312199 patient A PubMed: Tang 2008 - - - - - - - - Cu treatment from mo 7.6 MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312200 - PubMed: Tang 2008, PubMed: Kaler 2010 - - - - - - - - Cu treatment from day 25, minimal delays MNK - ATP7A ATP7A 1 2 Zeynep Tümer
00312201 patient C PubMed: Tang 2008 familial - - - - - - - Cu treatment from day 24 MNK - ATP7A ATP7A 1 1 Zeynep Tümer
00312202 patient 3 PubMed: Moizard 2010 - - - - - - - - - MNK Classical ATP7A ATP7A 1 1 Zeynep Tümer
00312203 - PubMed: Skjørringe 2011 - - - - - - - - - MNK - ATP7A ATP7A 1 1 Zeynep Tümer
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.