Disease #00020 (MK (Menkes Kinky Hair Syndrome), OMIM:309400)

Official abbreviation MK
Name Menkes Kinky Hair Syndrome
OMIM ID 309400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 163
Phenotype entries for this disease -
Associated with 1 gene ATP7A
Associated tissues -
Disease features -
Remarks -


Individuals

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

AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00002221 Kaler SG1, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA.(1994) - - MK - ATP7A ATP7A 1 1 Y Yang
00002222 M?ller LB1, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.(2000) - - MK - ATP7A ATP7A 1 1 Y Yang
00002223 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002224 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002225 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002226 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002227 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002228 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002229 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002230 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002231 Ogawa A1, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.(1999) - - MK - ATP7A ATP7A 1 1 Y Yang
00002232 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002233 Watanabe A1, Shimizu N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002234 Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - MK - ATP7A ATP7A 1 1 Y Yang
00002235 Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - MK - ATP7A ATP7A 1 1 Y Yang
00002236 Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - MK - ATP7A ATP7A 1 1 Y Yang
00002237 Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - MK - ATP7A ATP7A 1 1 Y Yang
00002238 Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - MK - ATP7A ATP7A 1 1 Y Yang
00002239 Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010) - - MK - ATP7A ATP7A 1 1 Y Yang
00002240 Gérard-Blanluet M, Birk-M?ller L, Caubel I, Gélot A, Billette de Villemeur T, Horn N.(2004) - - MK - ATP7A ATP7A 1 1 Y Yang
00002241 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002242 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002243 Jankov RP1, Boerkoel CF, Hellmann J, Sirkin WL, Tümer Z, Horn N, Feigenbaum A.(1998) - - MK - ATP7A ATP7A 1 1 Y Yang
00002244 Kim BE1, Smith K, Meagher CK, Petris MJ.(2002) - - MK - ATP7A ATP7A 1 1 Y Yang
00002245 Kaler SG1, Tang J, Donsante A, Kaneski CR.(2009) - - MK - ATP7A ATP7A 1 1 Y Yang
00002246 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002247 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002248 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002249 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002250 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002251 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002252 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002253 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002254 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002255 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002256 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002257 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002258 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002259 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002260 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002261 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002262 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002263 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002264 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002265 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002266 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002267 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002268 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002269 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002270 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002271 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002272 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002273 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002274 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002275 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002276 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002277 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002278 Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) - - MK - ATP7A ATP7A 1 1 Y Yang
00002279 Ogawa A1, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.(1999) - - MK - ATP7A ATP7A 1 1 Y Yang
00002280 Ogawa A1, Yamamoto S, Kanazawa M, Ogawa E, Takayanagi M, Hasegawa S, Kohno Y.(2000) - - MK - ATP7A ATP7A 1 1 Y Yang
00002281 Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002282 Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002283 Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002284 Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002285 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002286 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002287 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002288 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002289 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002290 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002291 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002292 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002293 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002294 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002295 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002296 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002297 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002298 Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) - - MK - ATP7A ATP7A 1 1 Y Yang
00002299 Zhang LP1, Lü JL, Wang XH, Zou LP.(2008) - - MK - ATP7A ATP7A 1 1 Y Yang
00002300 Park HD1, Moon HK, Lee J, Lee M, Lee SY, Kim JW, Ki CS.(2009) - - MK - ATP7A ATP7A 1 1 Y Yang
00002301 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002302 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002303 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002304 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002305 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002306 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002307 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002308 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002309 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002310 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002311 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002312 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002313 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002314 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002315 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002316 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002317 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002318 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002319 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
00002320 M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) - - MK - ATP7A ATP7A 1 1 Y Yang
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.