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Hepatoerythropoietic porphyria

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Phillips, JD; Whitby, FG; Stadtmueller, BM; Edwards, CQ; et al. (February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)".
129: 110:(PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2. 716: 721: 487: 435: 692: 149: 428: 225: 685: 245: 312: 421: 100: 394: 181: 678: 570: 556: 404: 492: 124: 374: 605: 600: 150:"Hepatoerythropoietic porphyria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" 666: 625: 541: 119: 462: 323: 82: 389: 517: 107: 595: 400: 157: 8: 711: 551: 301: 306: 458: 334: 221: 198: 96: 59: 46: 36: 546: 190: 72: 68: 512: 328: 662: 630: 339: 194: 286: 705: 76: 413: 408: 202: 64: 661:
This article about an endocrine, nutritional, or metabolic disease is a
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List of dental abnormalities associated with cutaneous conditions
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James, William D.; Berger, Timothy G.; et al. (2006).
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Skin conditions resulting from errors in metabolism
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Gunther disease/congenital erythropoietic porphyria
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Andrews' Diseases of the Skin: Clinical Dermatology
722:Endocrine, nutritional and metabolic disease stubs 703: 99:caused by a disorder in both genes which code 686: 443: 429: 172: 693: 679: 436: 422: 81: 704: 209: 417: 649: 13: 101:Uroporphyrinogen III decarboxylase 14: 733: 255: 106:It has a similar presentation to 653: 241:"hepatoerythropoietic porphyria" 35: 522:Hepatoerythropoietic porphyria 401:Hepatoerythropoietic porphyria 390:Hepatoerythropoietic porphyria 234: 142: 93:Hepatoerythropoietic porphyria 22:Hepatoerythropoietic porphyria 1: 571:Hereditary hyperbilirubinemia 557:Erythropoietic protoporphyria 135: 665:. You can help Knowledge by 493:Acute intermittent porphyria 246:Dorland's Medical Dictionary 125:List of cutaneous conditions 7: 113: 10: 738: 648: 195:10.1016/j.trsl.2006.08.006 614: 584: 569: 542:Hereditary coproporphyria 530: 501: 476: 452: 360: 263: 154:rarediseases.info.nih.gov 120:Hereditary coproporphyria 58: 43: 34: 26: 21: 606:Lucey–Driscoll syndrome 601:Crigler–Najjar syndrome 518:Porphyria cutanea tarda 397:Genetics Home Reference 108:porphyria cutanea tarda 95:is a very rare form of 626:Dubin–Johnson syndrome 182:Translational Research 220:. Saunders Elsevier. 479:early mitochondrial: 447:metabolism disorders 552:Variegate porphyria 533:late mitochondrial: 596:Gilbert's syndrome 361:External resources 160:on 14 January 2020 674: 673: 643: 642: 639: 638: 565: 564: 384: 383: 227:978-0-7216-2921-6 97:hepatic porphyria 90: 89: 16:Medical condition 729: 695: 688: 681: 657: 650: 619: 589: 582: 581: 547:Harderoporphyria 535: 506: 481: 474: 473: 438: 431: 424: 415: 414: 261: 260: 249: 238: 232: 231: 213: 207: 206: 176: 170: 169: 167: 165: 156:. Archived from 146: 86: 85: 73:medical genetics 69:gastroenterology 53: 44:UroD drawn from 39: 19: 18: 737: 736: 732: 731: 730: 728: 727: 726: 702: 701: 700: 699: 646: 644: 635: 615: 610: 585: 573: 561: 531: 526: 502: 497: 477: 465: 457: 448: 442: 385: 380: 379: 356: 355: 272: 258: 253: 252: 239: 235: 228: 214: 210: 177: 173: 163: 161: 148: 147: 143: 138: 116: 80: 45: 17: 12: 11: 5: 735: 725: 724: 719: 714: 698: 697: 690: 683: 675: 672: 671: 658: 641: 640: 637: 636: 634: 633: 631:Rotor syndrome 628: 622: 620: 612: 611: 609: 608: 603: 598: 592: 590: 579: 567: 566: 563: 562: 560: 559: 554: 549: 544: 538: 536: 528: 527: 525: 524: 515: 509: 507: 499: 498: 496: 495: 490: 488:ALAD porphyria 484: 482: 471: 463:erythropoietic 450: 449: 441: 440: 433: 426: 418: 412: 411: 398: 382: 381: 378: 377: 365: 364: 362: 358: 357: 354: 353: 342: 331: 320: 309: 294: 273: 268: 267: 265: 264:Classification 257: 256:External links 254: 251: 250: 233: 226: 208: 171: 140: 139: 137: 134: 133: 132: 127: 122: 115: 112: 88: 87: 62: 56: 55: 41: 40: 32: 31: 28: 24: 23: 15: 9: 6: 4: 3: 2: 734: 723: 720: 718: 715: 713: 710: 709: 707: 696: 691: 689: 684: 682: 677: 676: 670: 668: 664: 659: 656: 652: 651: 647: 632: 629: 627: 624: 623: 621: 618: 613: 607: 604: 602: 599: 597: 594: 593: 591: 588: 587:unconjugated: 583: 580: 577: 572: 568: 558: 555: 553: 550: 548: 545: 543: 540: 539: 537: 534: 529: 523: 519: 516: 514: 511: 510: 508: 505: 500: 494: 491: 489: 486: 485: 483: 480: 475: 472: 469: 464: 460: 455: 451: 446: 439: 434: 432: 427: 425: 420: 419: 416: 410: 409:Rare Diseases 407:'s Office of 406: 402: 399: 396: 392: 391: 387: 386: 376: 372: 371: 367: 366: 363: 359: 352: 348: 347: 343: 341: 337: 336: 332: 330: 326: 325: 321: 319: 315: 314: 310: 308: 304: 303: 299: 295: 292: 288: 284: 283: 279: 275: 274: 271: 266: 262: 248: 247: 242: 237: 229: 223: 219: 212: 204: 200: 196: 192: 188: 184: 183: 175: 159: 155: 151: 145: 141: 131: 128: 126: 123: 121: 118: 117: 111: 109: 104: 102: 98: 94: 84: 78: 77:endocrinology 74: 70: 66: 63: 61: 57: 52: 48: 42: 38: 33: 29: 25: 20: 667:expanding it 660: 645: 616: 586: 532: 521: 504:cytoplasmic: 503: 478: 388: 368: 344: 333: 322: 311: 296: 276: 244: 236: 217: 211: 189:(2): 85–91. 186: 180: 174: 162:. Retrieved 158:the original 153: 144: 105: 92: 91: 617:conjugated: 65:Dermatology 27:Other names 712:Porphyrias 706:Categories 335:DiseasesDB 136:References 576:bilirubin 468:porphyrin 454:Porphyria 351:111386004 346:SNOMED CT 60:Specialty 370:Orphanet 293:E80.282) 203:17240319 164:17 April 114:See also 103:(UROD). 54:​. 459:hepatic 329:D017121 318:176100 224:  201:  79:  375:95159 340:29123 307:277.1 287:E80.2 663:stub 461:and 445:Heme 324:MeSH 313:OMIM 302:9-CM 291:ILDS 222:ISBN 199:PMID 166:2019 51:1URO 405:NIH 403:at 395:NLM 393:at 298:ICD 278:ICD 243:at 191:doi 187:149 47:PDB 30:HEP 708:: 373:: 349:: 338:: 327:: 316:: 305:: 285:: 282:10 197:. 185:. 152:. 75:, 71:, 67:, 49:: 694:e 687:t 680:v 669:. 578:) 574:( 520:/ 470:) 466:( 456:, 437:e 430:t 423:v 300:- 289:( 280:- 270:D 230:. 205:. 193:: 168:.

Index


PDB
1URO
Specialty
Dermatology
gastroenterology
medical genetics
endocrinology
Edit this on Wikidata
hepatic porphyria
Uroporphyrinogen III decarboxylase
porphyria cutanea tarda
Hereditary coproporphyria
List of cutaneous conditions
List of dental abnormalities associated with cutaneous conditions
"Hepatoerythropoietic porphyria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
the original
Translational Research
doi
10.1016/j.trsl.2006.08.006
PMID
17240319
ISBN
978-0-7216-2921-6
"hepatoerythropoietic porphyria"
Dorland's Medical Dictionary
D
ICD
10
E80.2

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