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Cholestasis, progressive familial intrahepatic, 11(PFIC11)

MedGen UID:
1807308
Concept ID:
C5676985
Disease or Syndrome
Synonym: PFIC11
 
Gene (location): SEMA7A (15q24.1)
 
Monarch Initiative: MONDO:0030815
OMIM®: 619874

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
Concept ID:
C0151904
Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
Concept ID:
C0151905
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Increased serum bile acid concentration
MedGen UID:
868605
Concept ID:
C4023004
Finding
An increase in the concentration of bile acid in the blood.
Abnormal circulating bilirubin concentration
MedGen UID:
1787206
Concept ID:
C5539629
Finding
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Professional guidelines

PubMed

Nicastro E, Di Giorgio A, Marchetti D, Barboni C, Cereda A, Iascone M, D'Antiga L
J Pediatr 2019 Aug;211:54-62.e4. Epub 2019 May 31 doi: 10.1016/j.jpeds.2019.04.016. PMID: 31160058

Recent clinical studies

Etiology

Miethke AG, Moukarzel A, Porta G, Covarrubias Esquer J, Czubkowski P, Ordonez F, Mosca A, Aqul AA, Squires RH, Sokal E, D'Agostino D, Baumann U, D'Antiga L, Kasi N, Laborde N, Arikan C, Lin CH, Gilmour S, Mittal N, Chiou FK, Horslen SP, Huber WD, Jaecklin T, Nunes T, Lascau A, Longpre L, Mogul DB, Garner W, Vig P, Hupertz VF, Gonzalez-Peralta RP, Ekong U, Hartley J, Laverdure N, Ovchinsky N, Thompson RJ
Lancet Gastroenterol Hepatol 2024 Jul;9(7):620-631. Epub 2024 May 6 doi: 10.1016/S2468-1253(24)00080-3. PMID: 38723644
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
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium
Hepatology 2021 Aug;74(2):892-906. Epub 2021 Jul 13 doi: 10.1002/hep.31787. PMID: 33666275Free PMC Article
Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P
Dig Liver Dis 2019 Jul;51(7):922-933. Epub 2019 May 16 doi: 10.1016/j.dld.2019.04.013. PMID: 31105019
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890

Diagnosis

Heinz N, Vittorio J
Curr Gastroenterol Rep 2023 Nov;25(11):344-354. Epub 2023 Aug 31 doi: 10.1007/s11894-023-00891-8. PMID: 37651067
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
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
Clouston AD
Surg Pathol Clin 2018 Jun;11(2):313-327. Epub 2018 Mar 26 doi: 10.1016/j.path.2018.02.001. PMID: 29751877
Gonzales E, Spraul A, Jacquemin E
Eur J Hum Genet 2014 Apr;22(4) Epub 2013 Sep 4 doi: 10.1038/ejhg.2013.188. PMID: 24002166Free PMC Article

Therapy

Miethke AG, Moukarzel A, Porta G, Covarrubias Esquer J, Czubkowski P, Ordonez F, Mosca A, Aqul AA, Squires RH, Sokal E, D'Agostino D, Baumann U, D'Antiga L, Kasi N, Laborde N, Arikan C, Lin CH, Gilmour S, Mittal N, Chiou FK, Horslen SP, Huber WD, Jaecklin T, Nunes T, Lascau A, Longpre L, Mogul DB, Garner W, Vig P, Hupertz VF, Gonzalez-Peralta RP, Ekong U, Hartley J, Laverdure N, Ovchinsky N, Thompson RJ
Lancet Gastroenterol Hepatol 2024 Jul;9(7):620-631. Epub 2024 May 6 doi: 10.1016/S2468-1253(24)00080-3. PMID: 38723644
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
Krebs-Schmitt D, Briem-Richter A, Brinkert F, Keitel V, Pukite I, Lenhartz H, Fischer L, Grabhorn E
J Pediatr Gastroenterol Nutr 2019 Feb;68(2):169-174. doi: 10.1097/MPG.0000000000002200. PMID: 30664572
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890
Jacquemin E
Clin Liver Dis 2000 Nov;4(4):753-63. doi: 10.1016/s1089-3261(05)70139-2. PMID: 11232355

Prognosis

Miethke AG, Moukarzel A, Porta G, Covarrubias Esquer J, Czubkowski P, Ordonez F, Mosca A, Aqul AA, Squires RH, Sokal E, D'Agostino D, Baumann U, D'Antiga L, Kasi N, Laborde N, Arikan C, Lin CH, Gilmour S, Mittal N, Chiou FK, Horslen SP, Huber WD, Jaecklin T, Nunes T, Lascau A, Longpre L, Mogul DB, Garner W, Vig P, Hupertz VF, Gonzalez-Peralta RP, Ekong U, Hartley J, Laverdure N, Ovchinsky N, Thompson RJ
Lancet Gastroenterol Hepatol 2024 Jul;9(7):620-631. Epub 2024 May 6 doi: 10.1016/S2468-1253(24)00080-3. PMID: 38723644
Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D, Thompson RJ
Hepatol Commun 2022 Oct;6(10):2654-2664. Epub 2022 Jul 27 doi: 10.1002/hep4.2051. PMID: 35894240Free PMC Article
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium
Hepatology 2021 Aug;74(2):892-906. Epub 2021 Jul 13 doi: 10.1002/hep.31787. PMID: 33666275Free PMC Article
Clouston AD
Surg Pathol Clin 2018 Jun;11(2):313-327. Epub 2018 Mar 26 doi: 10.1016/j.path.2018.02.001. PMID: 29751877
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890

Clinical prediction guides

Miethke AG, Moukarzel A, Porta G, Covarrubias Esquer J, Czubkowski P, Ordonez F, Mosca A, Aqul AA, Squires RH, Sokal E, D'Agostino D, Baumann U, D'Antiga L, Kasi N, Laborde N, Arikan C, Lin CH, Gilmour S, Mittal N, Chiou FK, Horslen SP, Huber WD, Jaecklin T, Nunes T, Lascau A, Longpre L, Mogul DB, Garner W, Vig P, Hupertz VF, Gonzalez-Peralta RP, Ekong U, Hartley J, Laverdure N, Ovchinsky N, Thompson RJ
Lancet Gastroenterol Hepatol 2024 Jul;9(7):620-631. Epub 2024 May 6 doi: 10.1016/S2468-1253(24)00080-3. PMID: 38723644
Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D, Thompson RJ
Hepatol Commun 2022 Oct;6(10):2654-2664. Epub 2022 Jul 27 doi: 10.1002/hep4.2051. PMID: 35894240Free 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
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium
Hepatology 2021 Aug;74(2):892-906. Epub 2021 Jul 13 doi: 10.1002/hep.31787. PMID: 33666275Free PMC Article
Hayashi H, Osaka S, Sakabe K, Fukami A, Kishimoto E, Aihara E, Sabu Y, Mizutani A, Kusuhara H, Naritaka N, Zhang W, Huppert SS, Sakabe M, Nakamura T, Hu YC, Mayhew C, Setchell K, Takebe T, Asai A
Stem Cell Reports 2021 Feb 9;16(2):309-323. Epub 2021 Jan 14 doi: 10.1016/j.stemcr.2020.12.008. PMID: 33450190Free PMC Article

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