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MYO5B-related progressive familial intrahepatic cholestasis

MedGen UID:
1433019
Concept ID:
CN776887
Disease or Syndrome
Synonym: MYO5B deficiency
 
Monarch Initiative: MONDO:0018804
Orphanet: ORPHA480491

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMYO5B-related progressive familial intrahepatic cholestasis

Professional guidelines

PubMed

Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Schonfeld EA, Brown RS Jr
Clin Liver Dis 2017 Nov;21(4):673-686. Epub 2017 Jul 29 doi: 10.1016/j.cld.2017.06.001. PMID: 28987255

Recent clinical studies

Etiology

Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM
World J Gastroenterol 2020 Dec 21;26(47):7470-7484. doi: 10.3748/wjg.v26.i47.7470. PMID: 33384548Free PMC Article
Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article

Diagnosis

Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Bull LN, Thompson RJ
Clin Liver Dis 2018 Nov;22(4):657-669. Epub 2018 Aug 3 doi: 10.1016/j.cld.2018.06.003. PMID: 30266155

Therapy

Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Shirley M
Drugs 2022 Jan;82(1):71-76. doi: 10.1007/s40265-021-01649-0. PMID: 34813049Free PMC Article
Deeks ED
Drugs 2021 Oct;81(15):1781-1786. doi: 10.1007/s40265-021-01594-y. PMID: 34499340Free PMC Article
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article

Prognosis

Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890
Hori T, Nguyen JH, Uemoto S
Hepatobiliary Pancreat Dis Int 2010 Dec;9(6):570-8. PMID: 21134824

Clinical prediction guides

Chen R, Yang FX, Tan YF, Deng M, Li H, Xu Y, Ouyang WX, Song YZ
Orphanet J Rare Dis 2022 Dec 22;17(1):445. doi: 10.1186/s13023-022-02597-y. PMID: 36550572Free PMC Article
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Gaur K, Sakhuja P
Indian J Pathol Microbiol 2017 Jan-Mar;60(1):2-7. doi: 10.4103/0377-4929.200040. PMID: 28195083

Recent systematic reviews

Reynal F, Camoin A, Tardieu C, Fabre A, Blanchet I
Arch Pediatr 2023 Aug;30(6):427-437. Epub 2023 Jun 30 doi: 10.1016/j.arcped.2023.06.003. PMID: 37394364
Bolia R, Goel AD, Sharma V, Srivastava A
Expert Rev Gastroenterol Hepatol 2022 Feb;16(2):163-172. Epub 2022 Feb 15 doi: 10.1080/17474124.2022.2032660. PMID: 35051344
Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Verkade HJ, Thompson RJ, Arnell H, Fischler B, Gillberg PG, Mattsson JP, Torfgård K, Lindström E
J Pediatr Gastroenterol Nutr 2020 Aug;71(2):176-183. doi: 10.1097/MPG.0000000000002789. PMID: 32433433
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549

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