NCPH
MCID: PRT112
MIFTS: 31

Portal Hypertension, Noncirrhotic (NCPH)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Rare diseases

Aliases & Classifications for Portal Hypertension, Noncirrhotic

MalaCards integrated aliases for Portal Hypertension, Noncirrhotic:

Name: Portal Hypertension, Noncirrhotic 56 73 29 6
Ncph 56 73
Early-Onset Familial Noncirrhotic Portal Hypertension 58
Portal Hypertension, Non-Cirrhotic 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in first or second decade
stable clinical picture
three patients from 2 unrelated turkish families have been reported (last curated august 2016)


HPO:

31
portal hypertension, noncirrhotic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

OMIM 56 617068
MeSH 43 D006975
Orphanet 58 ORPHA494348

Summaries for Portal Hypertension, Noncirrhotic

UniProtKB/Swiss-Prot : 73 Portal hypertension, non-cirrhotic: An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH patients show normal liver function.

MalaCards based summary : Portal Hypertension, Noncirrhotic, also known as ncph, is related to nodular regenerative hyperplasia and portal hypertension. An important gene associated with Portal Hypertension, Noncirrhotic is DGUOK (Deoxyguanosine Kinase). The drugs Propranolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and breast, and related phenotypes are splenomegaly and hepatomegaly

OMIM : 56 Noncirrhotic portal hypertension 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). (617068)

Related Diseases for Portal Hypertension, Noncirrhotic

Diseases related to Portal Hypertension, Noncirrhotic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 nodular regenerative hyperplasia 11.7
2 portal hypertension 10.6
3 liver cirrhosis 10.3
4 banti's syndrome 10.2
5 encephalopathy 10.2
6 thrombophilia due to thrombin defect 10.1
7 hypersplenism 10.1
8 congenital hepatic fibrosis 10.1
9 varicose veins 10.1
10 hepatic veno-occlusive disease 10.1
11 esophageal varix 10.1
12 viral hepatitis 10.1
13 protein c deficiency 10.1
14 splenomegaly 10.1

Graphical network of the top 20 diseases related to Portal Hypertension, Noncirrhotic:



Diseases related to Portal Hypertension, Noncirrhotic

Symptoms & Phenotypes for Portal Hypertension, Noncirrhotic

Human phenotypes related to Portal Hypertension, Noncirrhotic:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 portal hypertension 31 HP:0001409

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
esophageal varices, small (in some patients)

Abdomen Liver:
hepatomegaly
portal hypertension
fibromuscular thickening of the portal venules seen on biopsy
narrowed venule lumens
normal liver synthetic function

Laboratory Abnormalities:
normal liver enzymes

Clinical features from OMIM:

617068

Drugs & Therapeutics for Portal Hypertension, Noncirrhotic

Drugs for Portal Hypertension, Noncirrhotic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 3 525-66-6 4946
2 Neurotransmitter Agents Phase 3
3 Anti-Arrhythmia Agents Phase 3
4 Adrenergic Antagonists Phase 3
5 Antihypertensive Agents Phase 3
6 Adrenergic beta-Antagonists Phase 3
7 Vasodilator Agents Phase 3
8 Adrenergic Agents Phase 3
9 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Endoscopic Variceal Ligation (EVL) and Propranolol in Secondary Prophylaxis of Variceal Bleeding in Patients With Non Cirrhotic Portal Hypertension (NCPH): A Prospective Randomized Controlled Trial Completed NCT01000779 Phase 3 Propranolol
2 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension Completed NCT02635815
3 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
4 Vienna Vascular Liver Disease Study: Characterization of Patients With Vascular Liver Disease - a Registry With Biobank Recruiting NCT03541057

Search NIH Clinical Center for Portal Hypertension, Noncirrhotic

Genetic Tests for Portal Hypertension, Noncirrhotic

Genetic tests related to Portal Hypertension, Noncirrhotic:

# Genetic test Affiliating Genes
1 Portal Hypertension, Noncirrhotic 29 DGUOK

Anatomical Context for Portal Hypertension, Noncirrhotic

MalaCards organs/tissues related to Portal Hypertension, Noncirrhotic:

40
Liver, Spleen, Breast

Publications for Portal Hypertension, Noncirrhotic

Articles related to Portal Hypertension, Noncirrhotic:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 56 6
26874653 2016
2
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. 56 6
17452231 2007
3
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. 56 6
17073823 2007
4
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. 56
31155282 2019
5
Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy. 56
28792652 2018
6
A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension. 56
26658685 2016
7
Expanding consensus in portal hypertension: Report of the Baveno VI Consensus Workshop: Stratifying risk and individualizing care for portal hypertension. 56
26047908 2015
8
Idiopathic non-cirrhotic portal hypertension: a review. 56
26025214 2015
9
Obliterative portal venopathy: a study of 48 children. 56
24768253 2014
10
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 6
23043144 2012
11
Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. 6
11983456 2002
12
Pathological abnormalities in splenic vasculature in non-cirrhotic portal hypertension: Its relevance in the management of portal hypertension. 61
31984119 2020
13
Sinusoidal obstruction syndrome post-treatment with trastuzumab emtansine (T-DM1) in advanced breast cancer. 61
31950012 2020
14
Water-Soluble Rhenium Phosphine Complexes Incorporating the Ph2C(X) Motif (X = O-, NH-): Structural and Cytotoxicity Studies. 61
31984731 2020
15
Long-term Outcome of Transjugular Intrahepatic Portosystemic Shunt in children with Portal Hypertension. 61
31880663 2019
16
Spleen stiffness measurements using point shear wave elastography detects noncirrhotic portal hypertension in human immunodeficiency virus. 61
31764798 2019
17
The Role of Magnetic Resonance Elastography in the Diagnosis of Noncirrhotic Portal Hypertension. 61
31629882 2019
18
Prevalence and impact of sarcopenia in non-cirrhotic portal hypertension. 61
31152475 2019
19
Obliterative Portal Venopathy Without Cirrhosis Is Prevalent in Pediatric Cystic Fibrosis Liver Disease With Portal Hypertension. 61
30404037 2019
20
[Analysis of influencing factors on hepatic encephalopathy in patients with non-cirrhotic portal hypertension]. 61
31594090 2019
21
An 18-Year-Old Man with Idiopathic Non-cirrhotic Portal Hypertension. 61
31383832 2019
22
Clinical Course of Nodular Regenerative Hyperplasia in Thiopurine Treated Inflammatory Bowel Disease Patients. 61
29775790 2019
23
Competitive Ligand Exchange and Dissociation in Ru Indenyl Complexes. 61
30525532 2019
24
Combination of modified Sugiura technique and proximal splenorenal shunt for the management of portal vein thrombosis in noncirrhotic portal hypertension. 61
31114286 2019
25
[Non-cirrhotic portal hypertension - The point of view of the pathologis]. 61
31913095 2019
26
Noninvasive Predictors of High-Risk Varices in Patients with Non-Cirrhotic Portal Hypertension. 61
30881946 2019
27
Portal vein thrombosis leading to pre-sinusoidal non-cirrhotic portal hypertension resulting in decreased synthetic function of the liver. 61
31191844 2019
28
Liver Stiffness Measurements in Patients with Noncirrhotic Portal Hypertension-The Devil Is in the Details. 61
30014586 2018
29
Systemic lupus erythematosus complicated by noncirrhotic portal hypertension: A case report and review of literature. 61
30430127 2018
30
Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension. 61
30094403 2018
31
Non-cirrhotic portal hypertension: an imaging review. 61
29564495 2018
32
Reductive Coupling and Loss of N2 from Magnesium Diazomethane Derivatives. 61
29719075 2018
33
Noncirrhotic portal hypertension. 61
29465431 2018
34
Mechanism of Charged, Neutral, Mono-, and Polyatomic Donor Ligand Coordination to Perchlorinated Cyclohexasilane (Si6Cl12). 61
29589757 2018
35
Socioeconomic Inequalities in Different Types of Disabilities in Iran. 61
29845032 2018
36
Mechanistic insights into the tropo-inversion of the biphenyl moiety in chiral bis-amido phosphites and in their palladium(ii) complexes. 61
29367987 2018
37
Adult Presentation of Noncirrhotic Portal Hypertension and Ascites following Treatment for Wilms' Tumor in Childhood. 61
29515345 2018
38
Transient Elastography (Fibroscan) in Patients with Non-cirrhotic Portal Fibrosis. 61
28970710 2017
39
Highly Cytotoxic Palladium(II) Pincer Complexes Based on Picolinylamides Functionalized with Amino Acids Bearing Ancillary S-Donor Groups. 61
28771333 2017
40
Synthesis and Reduction of Uranium(V) Imido Complexes with Redox-Active Substituents. 61
28211209 2017
41
[Non-cirrhotic portal hypertension due to didanosina. A rare case]. 61
28489843 2017
42
Hepatic encephalopathy in patients with non-cirrhotic portal hypertension: Description, prevalence and risk factors. 61
27448844 2016
43
Noncirrhotic Portal Hypertension in Perinatally HIV-infected Adolescents Treated With Didanosine-containing Antiretroviral Regimens in Childhood. 61
27167116 2016
44
Application of a standardised protocol for hepatic venous pressure gradient measurement improves quality of readings and facilitates reduction of variceal bleeding in cirrhotics. 61
26996384 2016
45
High patency of proximal splenorenal shunt: A myth or reality ? - A prospective cohort study. 61
26804351 2016
46
Non-cirrhotic Portal Hypertension Associated with Didanosine and Streptococcus agalactiae Infection: A Case Report. 61
26511343 2016
47
Multimetallic complexes based on a diphosphine-dithiocarbamate "Janus" ligand. 61
25880131 2015
48
[Noncirrhotic portal hypertension in a human immunodeficiency virus (HIV) infected adolescent]. 61
25913495 2015
49
Solid-phase cyclopalladation in S,C,S'-pincer systems: rising alternative for synthesis in solution. 61
25598412 2015
50
Controlled translocation of palladium(II) within a 22 ring atom macrocyclic ligand. 61
24869561 2014

Variations for Portal Hypertension, Noncirrhotic

ClinVar genetic disease variations for Portal Hypertension, Noncirrhotic:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=)SNV Pathogenic 214286 rs748597500 2:74177859-74177859 2:73950732-73950732
2 DGUOK NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)SNV Pathogenic/Likely pathogenic 253062 rs763615602 2:74154174-74154174 2:73927047-73927047

UniProtKB/Swiss-Prot genetic disease variations for Portal Hypertension, Noncirrhotic:

73
# Symbol AA change Variation ID SNP ID
1 DGUOK p.Asn46Ser VAR_076980 rs763615602

Expression for Portal Hypertension, Noncirrhotic

Search GEO for disease gene expression data for Portal Hypertension, Noncirrhotic.

Pathways for Portal Hypertension, Noncirrhotic

GO Terms for Portal Hypertension, Noncirrhotic

Sources for Portal Hypertension, Noncirrhotic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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