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Portal hypertension, noncirrhotic, 2(NCPH2)

MedGen UID:
1794158
Concept ID:
C5561948
Disease or Syndrome
Synonyms: NCPH2; PORTAL HYPERTENSION, NONCIRRHOTIC, 2
 
Gene (location): GIMAP5 (7q36.1)
 
Monarch Initiative: MONDO:0030397
OMIM®: 619463

Definition

Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021). For a discussion of genetic heterogeneity of NCPH, see 617068. [from OMIM]

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Increased pressure in the portal vein.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Nodular regenerative hyperplasia of liver
MedGen UID:
488965
Concept ID:
C1318485
Disease or Syndrome
Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
Hepatocellular carcinoma
MedGen UID:
389187
Concept ID:
C2239176
Neoplastic Process
Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Hemoptysis
MedGen UID:
5502
Concept ID:
C0019079
Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Elevated gamma-glutamyltransferase level
MedGen UID:
1370086
Concept ID:
C4476869
Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Galante A, De Gottardi A
Acta Gastroenterol Belg 2021 Apr-Jun;84(2):327-332. doi: 10.51821/84.2.327. PMID: 34217184
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714
Yachha SK, Chetri K, Lal R
Indian J Pediatr 2002 Sep;69(9):809-13. doi: 10.1007/BF02723696. PMID: 12420915

Recent clinical studies

Etiology

Lonardo A, Mantovani A, Targher G, Baffy G
Int J Mol Sci 2022 Nov 1;23(21) doi: 10.3390/ijms232113320. PMID: 36362108Free PMC Article
Ai J, Wang J, Liu D, Xiang H, Guo Y, Lv J, Zhang Q, Li J, Zhang X, Li Q, Liang J, Guo X, Feng Y, Liu L, Zhang X, Qin W, Wang X, Rao W, Zhang Q, Tian Q, Zhang Y, Xie F, Jiang S, Yan Y, Qiu Y, Wu H, Hou Z, Zhang N, Zhang A, Ji J, Yang J, Huang J, Zhao Z, Gu Y, Bian L, Zhang Z, Zou S, Ji H, Ge G, Du X, Hou A, Zhu Y, Cong Q, Xu J, Zu H, Wang Y, Yan Z, Yan X, BianBa Y, Ci Q, Zhang L, Yang S, Gao X, Zhong L, He S, Liu C, Huang Y, Liu Y, Xu D, Zhu Q, Xu X, Lv M, Zhang W, Qi X
Clin Gastroenterol Hepatol 2022 Jul;20(7):1516-1524.e2. Epub 2021 Dec 20 doi: 10.1016/j.cgh.2021.12.022. PMID: 34942370Free PMC Article
Baffy G, Bosch J
J Hepatol 2022 Feb;76(2):458-463. Epub 2021 Oct 2 doi: 10.1016/j.jhep.2021.09.029. PMID: 34606912
Lv Y, Yang Z, Liu L, Li K, He C, Wang Z, Bai W, Guo W, Yu T, Yuan X, Zhang H, Xie H, Yao L, Wang J, Li T, Wang Q, Chen H, Wang E, Xia D, Luo B, Li X, Yuan J, Han N, Zhu Y, Niu J, Cai H, Xia J, Yin Z, Wu K, Fan D, Han G; AVB-TIPS Study Group
Lancet Gastroenterol Hepatol 2019 Aug;4(8):587-598. Epub 2019 May 29 doi: 10.1016/S2468-1253(19)30090-1. PMID: 31153882
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

Diagnosis

Dana J, Debray D, Beaufrère A, Hillaire S, Fabre M, Reinhold C, Baumert TF, Berteloot L, Vilgrain V
J Hepatol 2022 Feb;76(2):420-434. Epub 2021 Oct 20 doi: 10.1016/j.jhep.2021.09.042. PMID: 34678405
Baffy G, Bosch J
J Hepatol 2022 Feb;76(2):458-463. Epub 2021 Oct 2 doi: 10.1016/j.jhep.2021.09.029. PMID: 34606912
Galante A, De Gottardi A
Acta Gastroenterol Belg 2021 Apr-Jun;84(2):327-332. doi: 10.51821/84.2.327. PMID: 34217184
Schouten JN, Verheij J, Seijo S
Orphanet J Rare Dis 2015 May 30;10:67. doi: 10.1186/s13023-015-0288-8. PMID: 26025214Free PMC Article
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

Therapy

Ai J, Wang J, Liu D, Xiang H, Guo Y, Lv J, Zhang Q, Li J, Zhang X, Li Q, Liang J, Guo X, Feng Y, Liu L, Zhang X, Qin W, Wang X, Rao W, Zhang Q, Tian Q, Zhang Y, Xie F, Jiang S, Yan Y, Qiu Y, Wu H, Hou Z, Zhang N, Zhang A, Ji J, Yang J, Huang J, Zhao Z, Gu Y, Bian L, Zhang Z, Zou S, Ji H, Ge G, Du X, Hou A, Zhu Y, Cong Q, Xu J, Zu H, Wang Y, Yan Z, Yan X, BianBa Y, Ci Q, Zhang L, Yang S, Gao X, Zhong L, He S, Liu C, Huang Y, Liu Y, Xu D, Zhu Q, Xu X, Lv M, Zhang W, Qi X
Clin Gastroenterol Hepatol 2022 Jul;20(7):1516-1524.e2. Epub 2021 Dec 20 doi: 10.1016/j.cgh.2021.12.022. PMID: 34942370Free PMC Article
Dana J, Debray D, Beaufrère A, Hillaire S, Fabre M, Reinhold C, Baumert TF, Berteloot L, Vilgrain V
J Hepatol 2022 Feb;76(2):420-434. Epub 2021 Oct 20 doi: 10.1016/j.jhep.2021.09.042. PMID: 34678405
Lv Y, Yang Z, Liu L, Li K, He C, Wang Z, Bai W, Guo W, Yu T, Yuan X, Zhang H, Xie H, Yao L, Wang J, Li T, Wang Q, Chen H, Wang E, Xia D, Luo B, Li X, Yuan J, Han N, Zhu Y, Niu J, Cai H, Xia J, Yin Z, Wu K, Fan D, Han G; AVB-TIPS Study Group
Lancet Gastroenterol Hepatol 2019 Aug;4(8):587-598. Epub 2019 May 29 doi: 10.1016/S2468-1253(19)30090-1. PMID: 31153882
Henry Z, Uppal D, Saad W, Caldwell S
Clin Liver Dis 2014 May;18(2):371-88. Epub 2014 Feb 26 doi: 10.1016/j.cld.2014.01.002. PMID: 24679501
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

Baffy G, Bosch J
J Hepatol 2022 Feb;76(2):458-463. Epub 2021 Oct 2 doi: 10.1016/j.jhep.2021.09.029. PMID: 34606912
Lv Y, Yang Z, Liu L, Li K, He C, Wang Z, Bai W, Guo W, Yu T, Yuan X, Zhang H, Xie H, Yao L, Wang J, Li T, Wang Q, Chen H, Wang E, Xia D, Luo B, Li X, Yuan J, Han N, Zhu Y, Niu J, Cai H, Xia J, Yin Z, Wu K, Fan D, Han G; AVB-TIPS Study Group
Lancet Gastroenterol Hepatol 2019 Aug;4(8):587-598. Epub 2019 May 29 doi: 10.1016/S2468-1253(19)30090-1. PMID: 31153882
Sarin SK, Khanna R
Clin Liver Dis 2014 May;18(2):451-76. doi: 10.1016/j.cld.2014.01.009. PMID: 24679506
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714
Lancet 1981 Dec 5;2(8258):1267-8. PMID: 6118676

Clinical prediction guides

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
Baffy G, Bosch J
J Hepatol 2022 Feb;76(2):458-463. Epub 2021 Oct 2 doi: 10.1016/j.jhep.2021.09.029. PMID: 34606912
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
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
Guido M, Alves VAF, Balabaud C, Bathal PS, Bioulac-Sage P, Colombari R, Crawford JM, Dhillon AP, Ferrell LD, Gill RM, Hytiroglou P, Nakanuma Y, Paradis V, Quaglia A, Rautou PE, Theise ND, Thung S, Tsui WMS, Sempoux C, Snover D, van Leeuwen DJ; International Liver Pathology Study Group
Histopathology 2019 Jan;74(2):219-226. Epub 2018 Oct 17 doi: 10.1111/his.13738. PMID: 30129657

Recent systematic reviews

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
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
Vadera S, Yong CWK, Gluud LL, Morgan MY
Cochrane Database Syst Rev 2019 Jun 20;6(6):CD012673. doi: 10.1002/14651858.CD012673.pub2. PMID: 31220333Free PMC Article

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