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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
Surgical management of children and adolescents with upfront completely resected hepatocellular carcinoma.
D'Souza AM, Shah R, Gupta A, Towbin AJ, Alonso M, Nathan JD, Bondoc A, Tiao G, Geller JI
Pediatr Blood Cancer 2018 Nov;65(11):e27293. Epub 2018 Jul 3 doi: 10.1002/pbc.27293. PMID: 29968976
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
Pathologic Features of Hereditary Cholestatic Diseases.
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
Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.
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

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
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis.
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
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. Genetic basis and treatment.
Jacquemin E
Clin Liver Dis 2000 Nov;4(4):753-63. doi: 10.1016/s1089-3261(05)70139-2. PMID: 11232355

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
Pathologic Features of Hereditary Cholestatic Diseases.
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
Prevalence of low phospholipid-associated cholelithiasis in young female patients.
Condat B, Zanditenas D, Barbu V, Hauuy MP, Parfait B, El Naggar A, Collot V, Bonnet J, Ngo Y, Maftouh A, Dugué L, Balian C, Charlier A, Blazquez M, Rosmorduc O
Dig Liver Dis 2013 Nov;45(11):915-9. Epub 2013 May 16 doi: 10.1016/j.dld.2013.04.002. PMID: 23684896
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

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
Modeling Human Bile Acid Transport and Synthesis in Stem Cell-Derived Hepatocytes with a Patient-Specific Mutation.
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
Prevalence of low phospholipid-associated cholelithiasis in young female patients.
Condat B, Zanditenas D, Barbu V, Hauuy MP, Parfait B, El Naggar A, Collot V, Bonnet J, Ngo Y, Maftouh A, Dugué L, Balian C, Charlier A, Blazquez M, Rosmorduc O
Dig Liver Dis 2013 Nov;45(11):915-9. Epub 2013 May 16 doi: 10.1016/j.dld.2013.04.002. PMID: 23684896

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