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Portal hypertension, noncirrhotic, 1(NCPH1)

MedGen UID:
986411
•Concept ID:
CN305369
•
Disease or Syndrome
Synonym: NCPH1
 
Gene (location): DGUOK (2p13.1)
 
Monarch Initiative: MONDO:8000013
OMIM®: 617068

Definition

Noncirrhotic portal hypertension-1 (NCPH1) is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016). Genetic Heterogeneity of NCPH See also NCPH2 (619463), caused by mutation in the GIMAP5 gene (608086) on chromosome 7q36. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Diagnosis and management of ectopic varices in portal hypertension.
Tranah TH, Nayagam JS, Gregory S, Hughes S, Patch D, Tripathi D, Shawcross DL, Joshi D
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1046-1056. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00209-1. PMID: 37683687
ACG Clinical Guideline: Disorders of the Hepatic and Mesenteric Circulation.
Simonetto DA, Singal AK, Garcia-Tsao G, Caldwell SH, Ahn J, Kamath PS
Am J Gastroenterol 2020 Jan;115(1):18-40. doi: 10.14309/ajg.0000000000000486. PMID: 31895720
Current knowledge in pathophysiology and management of Budd-Chiari syndrome and non-cirrhotic non-tumoral splanchnic vein thrombosis.
Hernández-Gea V, De Gottardi A, Leebeek FWG, Rautou PE, Salem R, Garcia-Pagan JC
J Hepatol 2019 Jul;71(1):175-199. Epub 2019 Feb 26 doi: 10.1016/j.jhep.2019.02.015. PMID: 30822449

Recent clinical studies

Etiology

Performance of non-invasive tests and histology for the prediction of clinical outcomes in patients with non-alcoholic fatty liver disease: an individual participant data meta-analysis.
Mózes FE, Lee JA, Vali Y, Alzoubi O, Staufer K, Trauner M, Paternostro R, Stauber RE, Holleboom AG, van Dijk AM, Mak AL, Boursier J, de Saint Loup M, Shima T, Bugianesi E, Gaia S, Armandi A, Shalimar, Lupșor-Platon M, Wong VW, Li G, Wong GL, Cobbold J, Karlas T, Wiegand J, Sebastiani G, Tsochatzis E, Liguori A, Yoneda M, Nakajima A, Hagström H, Akbari C, Hirooka M, Chan WK, Mahadeva S, Rajaram R, Zheng MH, George J, Eslam M, Petta S, Pennisi G, Viganò M, Ridolfo S, Aithal GP, Palaniyappan N, Lee DH, Ekstedt M, Nasr P, Cassinotto C, de Lédinghen V, Berzigotti A, Mendoza YP, Noureddin M, Truong E, Fournier-Poizat C, Geier A, Martic M, Tuthill T, Anstee QM, Harrison SA, Bossuyt PM, Pavlides M; LITMUS investigators
Lancet Gastroenterol Hepatol 2023 Aug;8(8):704-713. Epub 2023 Jun 5 doi: 10.1016/S2468-1253(23)00141-3. PMID: 37290471
Transjugular Intrahepatic Portosystemic Shunt and Thrombectomy (TIPS-Thrombectomy) for Symptomatic Acute Noncirrhotic Portal Vein Thrombosis.
Shalvoy MR, Ahmed M, Weinstein JL, Ramalingam V, Malik MS, Ali A, Shenoy-Bhangle AS, Curry MP, Sarwar A
J Vasc Interv Radiol 2023 Aug;34(8):1373-1381.e3. Epub 2023 May 12 doi: 10.1016/j.jvir.2023.05.009. PMID: 37182668
Portal Vein Recanalization for Noncirrhotic Portal Vein Cavernous Transformation: Transjugular Intrahepatic Portosystemic Shunt Creation versus Portal Vein Stent Placement.
Wei B, Huang Z, Wu H, Tai Y, Tong H, Li Q, Wang Z, Yang R, Tang C
J Vasc Interv Radiol 2023 Feb;34(2):187-194. Epub 2022 Nov 7 doi: 10.1016/j.jvir.2022.10.039. PMID: 36356710
Non-cirrhotic portal hypertension: an imaging review.
Rajesh S, Mukund A, Sureka B, Bansal K, Ronot M, Arora A
Abdom Radiol (NY) 2018 Aug;43(8):1991-2010. doi: 10.1007/s00261-018-1570-8. PMID: 29564495
Noncirrhotic portal hypertension in HIV-infected patients: a case control evaluation and review of the literature.
Cesari M, Schiavini M, Marchetti G, Caramma I, Ortu M, Franzetti F, Galli M, Antinori S, Milazzo L
AIDS Patient Care STDS 2010 Nov;24(11):697-703. Epub 2010 Oct 23 doi: 10.1089/apc.2010.0160. PMID: 20969464

Diagnosis

Diagnosis and management of ectopic varices in portal hypertension.
Tranah TH, Nayagam JS, Gregory S, Hughes S, Patch D, Tripathi D, Shawcross DL, Joshi D
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1046-1056. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00209-1. PMID: 37683687
Performance of non-invasive tests and histology for the prediction of clinical outcomes in patients with non-alcoholic fatty liver disease: an individual participant data meta-analysis.
Mózes FE, Lee JA, Vali Y, Alzoubi O, Staufer K, Trauner M, Paternostro R, Stauber RE, Holleboom AG, van Dijk AM, Mak AL, Boursier J, de Saint Loup M, Shima T, Bugianesi E, Gaia S, Armandi A, Shalimar, Lupșor-Platon M, Wong VW, Li G, Wong GL, Cobbold J, Karlas T, Wiegand J, Sebastiani G, Tsochatzis E, Liguori A, Yoneda M, Nakajima A, Hagström H, Akbari C, Hirooka M, Chan WK, Mahadeva S, Rajaram R, Zheng MH, George J, Eslam M, Petta S, Pennisi G, Viganò M, Ridolfo S, Aithal GP, Palaniyappan N, Lee DH, Ekstedt M, Nasr P, Cassinotto C, de Lédinghen V, Berzigotti A, Mendoza YP, Noureddin M, Truong E, Fournier-Poizat C, Geier A, Martic M, Tuthill T, Anstee QM, Harrison SA, Bossuyt PM, Pavlides M; LITMUS investigators
Lancet Gastroenterol Hepatol 2023 Aug;8(8):704-713. Epub 2023 Jun 5 doi: 10.1016/S2468-1253(23)00141-3. PMID: 37290471
Noncirrhotic Portal Hypertension: Current and Emerging Perspectives.
Khanna R, Sarin SK
Clin Liver Dis 2019 Nov;23(4):781-807. doi: 10.1016/j.cld.2019.07.006. PMID: 31563222
Pathology of idiopathic non-cirrhotic portal hypertension.
Guido M, Sarcognato S, Sacchi D, Colloredo G
Virchows Arch 2018 Jul;473(1):23-31. Epub 2018 Apr 12 doi: 10.1007/s00428-018-2355-8. PMID: 29644430
Non-cirrhotic portal hypertension: an imaging review.
Rajesh S, Mukund A, Sureka B, Bansal K, Ronot M, Arora A
Abdom Radiol (NY) 2018 Aug;43(8):1991-2010. doi: 10.1007/s00261-018-1570-8. PMID: 29564495

Therapy

Diagnosis and management of ectopic varices in portal hypertension.
Tranah TH, Nayagam JS, Gregory S, Hughes S, Patch D, Tripathi D, Shawcross DL, Joshi D
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1046-1056. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00209-1. PMID: 37683687
Transjugular Intrahepatic Portosystemic Shunt and Thrombectomy (TIPS-Thrombectomy) for Symptomatic Acute Noncirrhotic Portal Vein Thrombosis.
Shalvoy MR, Ahmed M, Weinstein JL, Ramalingam V, Malik MS, Ali A, Shenoy-Bhangle AS, Curry MP, Sarwar A
J Vasc Interv Radiol 2023 Aug;34(8):1373-1381.e3. Epub 2023 May 12 doi: 10.1016/j.jvir.2023.05.009. PMID: 37182668
Portal Vein Recanalization for Noncirrhotic Portal Vein Cavernous Transformation: Transjugular Intrahepatic Portosystemic Shunt Creation versus Portal Vein Stent Placement.
Wei B, Huang Z, Wu H, Tai Y, Tong H, Li Q, Wang Z, Yang R, Tang C
J Vasc Interv Radiol 2023 Feb;34(2):187-194. Epub 2022 Nov 7 doi: 10.1016/j.jvir.2022.10.039. PMID: 36356710
Rivaroxaban Prophylaxis in Noncirrhotic Portal Vein Thrombosis.
Plessier A, Goria O, Cervoni JP, Ollivier I, Bureau C, Poujol-Robert A, Minello A, Houssel-Debry P, Rautou PE, Payancé A, Scoazec G, Bruno O, Corbic M, Durand F, Vilgrain V, Paradis V, Boudaoud L, de Raucourt E, Roy C, Gault N, Valla D
NEJM Evid 2022 Dec;1(12):EVIDoa2200104. Epub 2022 Nov 22 doi: 10.1056/EVIDoa2200104. PMID: 38319842
Noncirrhotic portal hypertension in HIV-infected patients: a case control evaluation and review of the literature.
Cesari M, Schiavini M, Marchetti G, Caramma I, Ortu M, Franzetti F, Galli M, Antinori S, Milazzo L
AIDS Patient Care STDS 2010 Nov;24(11):697-703. Epub 2010 Oct 23 doi: 10.1089/apc.2010.0160. PMID: 20969464

Prognosis

Performance of non-invasive tests and histology for the prediction of clinical outcomes in patients with non-alcoholic fatty liver disease: an individual participant data meta-analysis.
Mózes FE, Lee JA, Vali Y, Alzoubi O, Staufer K, Trauner M, Paternostro R, Stauber RE, Holleboom AG, van Dijk AM, Mak AL, Boursier J, de Saint Loup M, Shima T, Bugianesi E, Gaia S, Armandi A, Shalimar, Lupșor-Platon M, Wong VW, Li G, Wong GL, Cobbold J, Karlas T, Wiegand J, Sebastiani G, Tsochatzis E, Liguori A, Yoneda M, Nakajima A, Hagström H, Akbari C, Hirooka M, Chan WK, Mahadeva S, Rajaram R, Zheng MH, George J, Eslam M, Petta S, Pennisi G, Viganò M, Ridolfo S, Aithal GP, Palaniyappan N, Lee DH, Ekstedt M, Nasr P, Cassinotto C, de Lédinghen V, Berzigotti A, Mendoza YP, Noureddin M, Truong E, Fournier-Poizat C, Geier A, Martic M, Tuthill T, Anstee QM, Harrison SA, Bossuyt PM, Pavlides M; LITMUS investigators
Lancet Gastroenterol Hepatol 2023 Aug;8(8):704-713. Epub 2023 Jun 5 doi: 10.1016/S2468-1253(23)00141-3. PMID: 37290471
Transjugular Intrahepatic Portosystemic Shunt and Thrombectomy (TIPS-Thrombectomy) for Symptomatic Acute Noncirrhotic Portal Vein Thrombosis.
Shalvoy MR, Ahmed M, Weinstein JL, Ramalingam V, Malik MS, Ali A, Shenoy-Bhangle AS, Curry MP, Sarwar A
J Vasc Interv Radiol 2023 Aug;34(8):1373-1381.e3. Epub 2023 May 12 doi: 10.1016/j.jvir.2023.05.009. PMID: 37182668
Non-cirrhotic portal hypertension: an imaging review.
Rajesh S, Mukund A, Sureka B, Bansal K, Ronot M, Arora A
Abdom Radiol (NY) 2018 Aug;43(8):1991-2010. doi: 10.1007/s00261-018-1570-8. PMID: 29564495
Non-cirrhotic portal hypertension.
Sarin SK, Khanna R
Clin Liver Dis 2014 May;18(2):451-76. doi: 10.1016/j.cld.2014.01.009. PMID: 24679506
Idiopathic portal hypertension and its pathology.
Okudaira M, Ohbu M, Okuda K
Semin Liver Dis 2002 Feb;22(1):59-72. doi: 10.1055/s-2002-23207. PMID: 11928079

Clinical prediction guides

Performance of non-invasive tests and histology for the prediction of clinical outcomes in patients with non-alcoholic fatty liver disease: an individual participant data meta-analysis.
Mózes FE, Lee JA, Vali Y, Alzoubi O, Staufer K, Trauner M, Paternostro R, Stauber RE, Holleboom AG, van Dijk AM, Mak AL, Boursier J, de Saint Loup M, Shima T, Bugianesi E, Gaia S, Armandi A, Shalimar, Lupșor-Platon M, Wong VW, Li G, Wong GL, Cobbold J, Karlas T, Wiegand J, Sebastiani G, Tsochatzis E, Liguori A, Yoneda M, Nakajima A, Hagström H, Akbari C, Hirooka M, Chan WK, Mahadeva S, Rajaram R, Zheng MH, George J, Eslam M, Petta S, Pennisi G, Viganò M, Ridolfo S, Aithal GP, Palaniyappan N, Lee DH, Ekstedt M, Nasr P, Cassinotto C, de Lédinghen V, Berzigotti A, Mendoza YP, Noureddin M, Truong E, Fournier-Poizat C, Geier A, Martic M, Tuthill T, Anstee QM, Harrison SA, Bossuyt PM, Pavlides M; LITMUS investigators
Lancet Gastroenterol Hepatol 2023 Aug;8(8):704-713. Epub 2023 Jun 5 doi: 10.1016/S2468-1253(23)00141-3. PMID: 37290471
Clinical outcomes and prognostic factors in non-cirrhotic non-neoplastic patients with portal vein thrombosis: A single-centre experience.
Gioia S, Riggio O, Nardelli S, Ridola L, Marzano C
Dig Liver Dis 2023 Nov;55(11):1487-1495. Epub 2023 May 23 doi: 10.1016/j.dld.2023.05.007. PMID: 37230857
Portal vein thrombosis, hepatic decompensation, and survival in patients with porto-sinusoidal vascular disease and portal hypertension.
Zhang X, Durham KM, Garza AA, Murali AR
J Gastroenterol 2023 Mar;58(3):268-276. Epub 2023 Jan 24 doi: 10.1007/s00535-023-01957-0. PMID: 36692825
Clinical Course of Porto-Sinusoidal Vascular Disease Is Distinct From Idiopathic Noncirrhotic Portal Hypertension.
Wöran K, Semmler G, Jachs M, Simbrunner B, Bauer DJM, Binter T, Pomej K, Stättermayer AF, Schwabl P, Bucsics T, Paternostro R, Lampichler K, Pinter M, Trauner M, Mandorfer M, Stift J, Reiberger T, Scheiner B
Clin Gastroenterol Hepatol 2022 Feb;20(2):e251-e266. Epub 2020 Dec 3 doi: 10.1016/j.cgh.2020.11.039. PMID: 33279774
Clinical features of idiopathic portal hypertension in China: A retrospective study of 338 patients and literature review.
Sun Y, Lan X, Shao C, Wang T, Yang Z
J Gastroenterol Hepatol 2019 Aug;34(8):1417-1423. Epub 2018 Dec 16 doi: 10.1111/jgh.14552. PMID: 30462857

Recent systematic reviews

Prevalence of hepatic encephalopathy in patients with non-cirrhotic portal hypertension: A systematic review and meta-analysis.
Giri S, Singh A, Angadi S, Kolhe K, Roy A
Indian J Gastroenterol 2023 Oct;42(5):642-650. Epub 2023 Aug 17 doi: 10.1007/s12664-023-01412-1. PMID: 37589913
Maternal and perinatal outcome in pregnancies complicated with portal hypertension: a systematic review and meta-analysis.
Pal K, Sadanandan DM, Gupta A, Nayak D, Pyakurel M, Keepanasseril A, Maurya DK, Nair NS, Keepanasseril A
Hepatol Int 2023 Feb;17(1):170-179. Epub 2022 Jul 8 doi: 10.1007/s12072-022-10385-w. PMID: 35802227
Systematic review and meta-analysis: impact of anti-viral therapy on portal hypertensive complications in HBV patients with advanced chronic liver disease.
Kong Y, Lv T, Li M, Zhao L, Meng T, Wu S, Wei W, Zhang Q, Chen S, You H, Lens S, Yoshiji H, Francque S, Tsochatzis E, Sarin SK, Mandorfer M, Jia J; BAVENO Cooperation: an EASL consortium
Hepatol Int 2022 Oct;16(5):1052-1063. Epub 2022 Sep 9 doi: 10.1007/s12072-022-10369-w. PMID: 36083440
Surgical shunts for extrahepatic portal vein obstruction in pediatric patients: a systematic review.
Zielsdorf S, Narayanan L, Kantymyr S, Barbetta A, Kwon Y, Etesami K, Genyk Y, Emamaullee J
HPB (Oxford) 2021 May;23(5):656-665. Epub 2020 Dec 30 doi: 10.1016/j.hpb.2020.11.1149. PMID: 33388243
Morbidity and mortality related to non-hepatic surgery in patients with liver cirrhosis: a systematic review.
de Goede B, Klitsie PJ, Lange JF, Metselaar HJ, Kazemier G
Best Pract Res Clin Gastroenterol 2012 Feb;26(1):47-59. doi: 10.1016/j.bpg.2012.01.010. PMID: 22482525

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