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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
•Concept ID:
C0151905
•
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
See: Feature record | Search on this feature
Increased serum bile acid concentration
MedGen UID:
868605
•Concept ID:
C4023004
•
Finding
An increase in the concentration of bile acid in the blood.
See: Feature record | Search on this feature
Abnormal circulating bilirubin concentration
MedGen UID:
1787206
•Concept ID:
C5539629
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
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

Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
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
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
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
Familial intrahepatic cholestasis: New and wide perspectives.
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
Current and future therapies for inherited cholestatic liver diseases.
van der Woerd WL, Houwen RH, van de Graaf SF
World J Gastroenterol 2017 Feb 7;23(5):763-775. doi: 10.3748/wjg.v23.i5.763. PMID: 28223721Free PMC Article
Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890

Diagnosis

Treatment of Cholestasis in Infants and Young Children.
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
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
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
Progressive Familial Intrahepatic Cholestasis.
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
Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890
Progressive familial intrahepatic cholestasis.
Jacquemin E
J Gastroenterol Hepatol 1999 Jun;14(6):594-9. doi: 10.1046/j.1440-1746.1999.01921.x. PMID: 10385071

Therapy

Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
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
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
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
Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. PMID: 20955958
Progressive familial intrahepatic cholestasis.
Jacquemin E
J Gastroenterol Hepatol 1999 Jun;14(6):594-9. doi: 10.1046/j.1440-1746.1999.01921.x. PMID: 10385071

Prognosis

Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
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
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Felzen A, Verkade HJ
Eur J Med Genet 2021 Nov;64(11):104317. Epub 2021 Aug 31 doi: 10.1016/j.ejmg.2021.104317. PMID: 34478903
Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. PMID: 23141890
Nontransplant surgical interventions in progressive familial intrahepatic cholestasis.
Davis AR, Rosenthal P, Newman TB
J Pediatr Surg 2009 Apr;44(4):821-7. doi: 10.1016/j.jpedsurg.2008.07.018. PMID: 19361647
Update on progressive familial intrahepatic cholestasis.
Alissa FT, Jaffe R, Shneider BL
J Pediatr Gastroenterol Nutr 2008 Mar;46(3):241-52. doi: 10.1097/MPG.0b013e3181596060. PMID: 18376240

Clinical prediction guides

Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
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
Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.
Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M
Pediatr Transplant 2023 Dec;27(8):e14600. Epub 2023 Sep 7 doi: 10.1111/petr.14600. PMID: 37675889
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
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
Update on progressive familial intrahepatic cholestasis.
Alissa FT, Jaffe R, Shneider BL
J Pediatr Gastroenterol Nutr 2008 Mar;46(3):241-52. doi: 10.1097/MPG.0b013e3181596060. PMID: 18376240
Progressive familial intrahepatic cholestasis: a personal perspective.
Knisely AS
Pediatr Dev Pathol 2000 Mar-Apr;3(2):113-25. doi: 10.1007/s100240050016. PMID: 10679031

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