Knowledge (XXG)

Bart–Pumphrey syndrome

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Bart RS, Pumphrey RE (January 1967). "Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome".
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palmoplantar keratoderma with knuckle pads and leukonychia and deafness
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Bart–Pumphrey syndrome is inherited in an autosomal dominant fashion.
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Richard G, Brown N, Ishida-Yamamoto A, Krol A (November 2004).
73:. It was characterized in 1967. It can be associated with 1275: 221: 1219: 1101: 1060: 953: 870: 706: 697: 634: 489: 480: 427: 314: 305: 225: 40: 21: 1295: 283: 8: 61:) is a cutaneous condition characterized by 1302: 1288: 703: 486: 311: 290: 276: 268: 222: 114: 112: 27: 18: 1195:Progressive symmetric erythrokeratodermia 196: 1209:Clouston's hidrotic ectodermal dysplasia 108: 1156:Keratitis–ichthyosis–deafness syndrome 975:Congenital absence of the vas deferens 7: 1263: 1261: 1274:. You can help Knowledge (XXG) by 826:Jervell and Lange-Nielsen syndrome 765:Jervell and Lange-Nielsen syndrome 14: 1236:Nephrogenic diabetes insipidus 2 624:Congenital insensitivity to pain 619:Paroxysmal extreme pain disorder 547:Hypokalemic periodic paralysis 2 398:Hypokalemic periodic paralysis 1 198:10.1111/j.0022-202X.2004.23470.x 1128:Hypoplastic left heart syndrome 939:Thyrotoxic periodic paralysis 2 552:Hyperkalemic periodic paralysis 403:Thyrotoxic periodic paralysis 1 1190:Erythrokeratodermia variabilis 1142:Charcot–Marie–Tooth disease X1 846:Familial atrial fibrillation 3 751:Spinocerebellar ataxia type-13 737:Familial atrial fibrillation 7 504:Familial hemiplegic migraine 3 331:Familial hemiplegic migraine 1 1: 1036:Vitelliform macular dystrophy 562:Potassium-aggravated myotonia 341:Spinocerebellar ataxia type-6 1123:Hallermann–Streiff syndrome 1118:Oculodentodigital dysplasia 683:Pseudohypoaldosteronism 1AR 158:10.1056/NEJM196701262760403 1347: 1260: 1321:Palmoplantar keratodermas 1246: 121:Dermatology: 2-Volume Set 35: 26: 299:Diseases of ion channels 97:Palmoplantar keratoderma 65:(knuckle pads) over the 901:Andersen–Tawil syndrome 1166:Bart–Pumphrey syndrome 557:Paramyotonia congenita 442:Malignant hyperthermia 71:interphalangeal joints 69:, proximal and distal 55:Bart–Pumphrey syndrome 22:Bart–Pumphrey syndrome 1091:Mucolipidosis type IV 636:Constitutively active 1331:Genodermatoses stubs 1022:Osteopetrosis A2, B4 831:Romano–Ward syndrome 447:Central core disease 123:. St. Louis: Mosby. 576:Long QT syndrome 10 185:J. Invest. Dermatol 67:metacarpophalangeal 1171:Vohwinkel syndrome 1161:Ichthyosis hystrix 1050:Bartter syndrome 3 994:Myotonia congenita 906:Long QT syndrome 7 887:Bartter syndrome 2 841:Long QT syndrome 1 798:Brugada syndrome 5 784:Long QT syndrome 6 770:Long QT syndrome 5 614:Febrile seizure 3B 595:Long QT syndrome 3 590:Brugada syndrome 1 528:Brugada syndrome 6 514:Febrile seizure 3A 417:Brugada syndrome 4 365:Long QT syndrome 8 360:Brugada syndrome 3 1283: 1282: 1258: 1257: 949: 948: 911:Short QT syndrome 836:Short QT syndrome 812:Short QT syndrome 723:Episodic ataxia 1 699:Potassium channel 693: 692: 657:Liddle's syndrome 476: 475: 379:Ocular albinism 2 336:Episodic ataxia 2 265: 264: 130:978-1-4160-2999-1 52: 51: 16:Medical condition 1338: 1304: 1297: 1290: 1262: 955:Chloride channel 872:Inward-rectifier 704: 487: 355:Timothy syndrome 312: 292: 285: 278: 269: 223: 211: 210: 200: 176: 170: 169: 141: 135: 134: 116: 57:, also known as 31: 19: 1346: 1345: 1341: 1340: 1339: 1337: 1336: 1335: 1311: 1310: 1309: 1308: 1259: 1254: 1242: 1215: 1097: 1056: 989:Thomsen disease 970:Cystic fibrosis 945: 866: 689: 630: 609:Erythromelalgia 472: 423: 307:Calcium channel 301: 296: 266: 261: 260: 234: 220: 215: 214: 178: 177: 173: 146:N. Engl. J. Med 143: 142: 138: 131: 118: 117: 110: 105: 83: 17: 12: 11: 5: 1344: 1342: 1334: 1333: 1328: 1323: 1313: 1312: 1307: 1306: 1299: 1292: 1284: 1281: 1280: 1268:Genodermatoses 1256: 1255: 1247: 1244: 1243: 1241: 1240: 1239: 1238: 1225: 1223: 1217: 1216: 1214: 1213: 1212: 1211: 1199: 1198: 1197: 1192: 1176: 1175: 1174: 1168: 1163: 1158: 1146: 1145: 1144: 1132: 1131: 1130: 1125: 1120: 1107: 1105: 1099: 1098: 1096: 1095: 1094: 1093: 1081: 1080: 1079: 1066: 1064: 1058: 1057: 1055: 1054: 1053: 1052: 1040: 1039: 1038: 1026: 1025: 1024: 1012: 1011: 1010: 1008:Dent's disease 998: 997: 996: 991: 979: 978: 977: 972: 959: 957: 951: 950: 947: 946: 944: 943: 942: 941: 929: 928: 927: 915: 914: 913: 908: 903: 891: 890: 889: 876: 874: 868: 867: 865: 864: 863: 862: 850: 849: 848: 843: 838: 833: 828: 816: 815: 814: 802: 801: 800: 788: 787: 786: 774: 773: 772: 767: 755: 754: 753: 741: 740: 739: 727: 726: 725: 712: 710: 701: 695: 694: 691: 690: 688: 687: 686: 685: 661: 660: 659: 640: 638: 632: 631: 629: 628: 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714: 713: 711: 709: 708:Voltage-gated 705: 702: 700: 696: 684: 681: 680: 679: 678: 673: 672: 667: 666: 662: 658: 655: 654: 653: 652: 647: 646: 642: 641: 639: 637: 633: 625: 622: 620: 617: 615: 612: 610: 607: 606: 605: 604: 600: 596: 593: 591: 588: 587: 586: 585: 581: 577: 574: 573: 572: 571: 567: 563: 560: 558: 555: 553: 550: 548: 545: 544: 543: 542: 538: 534: 531: 529: 526: 525: 524: 523: 519: 515: 512: 510: 507: 505: 502: 501: 500: 499: 495: 494: 492: 490:Voltage-gated 488: 485: 483: 479: 467: 464: 462: 459: 458: 457: 456: 452: 448: 445: 443: 440: 439: 438: 437: 433: 432: 430: 426: 418: 415: 414: 413: 412: 408: 404: 401: 399: 396: 395: 394: 393: 389: 385: 382: 380: 377: 376: 375: 374: 370: 366: 363: 361: 358: 356: 353: 352: 351: 350: 346: 342: 339: 337: 334: 332: 329: 328: 327: 326: 322: 321: 319: 317: 316:Voltage-gated 313: 310: 308: 304: 300: 293: 288: 286: 281: 279: 274: 273: 270: 257: 253: 252: 248: 246: 242: 241: 237: 236: 233: 228: 224: 217: 208: 204: 199: 194: 191:(5): 856–63. 190: 186: 182: 175: 172: 167: 163: 159: 155: 151: 147: 140: 137: 132: 126: 122: 115: 113: 109: 102: 98: 95: 93: 92:Bart syndrome 90: 88: 85: 84: 80: 78: 76: 72: 68: 64: 60: 56: 48: 45: 43: 39: 34: 30: 25: 20: 1276:expanding it 1265: 1251:ion channels 1248: 1228: 1201: 1178: 1165: 1148: 1134: 1110: 1083: 1069: 1042: 1028: 1014: 1000: 981: 962: 931: 917: 893: 879: 852: 818: 804: 790: 776: 757: 743: 729: 715: 675: 669: 663: 649: 643: 601: 582: 568: 539: 520: 496: 453: 434: 428:Ligand gated 409: 390: 371: 347: 323: 249: 238: 188: 184: 174: 152:(4): 202–7. 149: 145: 139: 120: 58: 54: 53: 1062:TRP channel 47:Dermatology 1315:Categories 1249:See also: 103:References 1326:Syndromes 42:Specialty 1103:Connexin 207:15482471 81:See also 533:GEFS+ 1 509:GEFS+ 2 392:CACNA1S 373:CACNA1F 349:CACNA1C 325:CACNA1A 256:C537210 166:6015974 1085:TRPML1 1044:CLCNKB 933:KCNJ18 919:KCNJ11 677:SCNN1G 671:SCNN1B 665:SCNN1A 651:SCNN1G 645:SCNN1B 411:CACNB2 384:CSNB2A 245:149200 205:  164:  127:  1266:This 1221:Porin 1077:FSGS2 1071:TRPC6 1030:BEST1 1016:CLCN7 1002:CLCN5 983:CLCN1 925:TNDM3 895:KCNJ2 881:KCNJ1 860:BFNS1 854:KCNQ2 820:KCNQ1 806:KCNH2 792:KCNE3 778:KCNE2 759:KCNE1 745:KCNC3 731:KCNA5 717:KCNA1 603:SCN9A 584:SCN5A 570:SCN4B 541:SCN4A 522:SCN1B 498:SCN1A 466:ARVD2 461:CPVT1 1272:stub 1230:AQP2 1203:GJB6 1184:GJB4 1180:GJB3 1150:GJB2 1136:GJB1 1112:GJA1 964:CFTR 455:RYR2 436:RYR1 251:MeSH 240:OMIM 203:PMID 162:PMID 125:ISBN 75:GJB2 193:doi 189:123 154:doi 150:276 1317:: 254:: 243:: 201:. 187:. 183:. 160:. 148:. 111:^ 77:. 1303:e 1296:t 1289:v 1278:. 1182:/ 1173:) 674:/ 668:/ 648:/ 291:e 284:t 277:v 232:D 209:. 195:: 168:. 156:: 133:.

Index


Specialty
Dermatology
hyperkeratoses
metacarpophalangeal
interphalangeal joints
GJB2
Camisa disease
Bart syndrome
Palmoplantar keratoderma


ISBN
978-1-4160-2999-1
doi
10.1056/NEJM196701262760403
PMID
6015974
"Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2"
doi
10.1111/j.0022-202X.2004.23470.x
PMID
15482471
D
OMIM
149200
MeSH
C537210
v
t

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