NCPH
MCID: PRT112
MIFTS: 22

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 58 76 30 6
Ncph 58 76
Early-Onset Familial Noncirrhotic Portal Hypertension 60
Portal Hypertension, Non-Cirrhotic 76

Characteristics:

OMIM:

58
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:

33
portal hypertension, noncirrhotic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare hepatic diseases


External Ids:

OMIM 58 617068
MeSH 45 D006975
Orphanet 60 ORPHA494348

Summaries for Portal Hypertension, Noncirrhotic

UniProtKB/Swiss-Prot : 76 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). Related phenotypes are splenomegaly and hepatomegaly

OMIM : 58 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:

# Related Disease Score Top Affiliating Genes
1 nodular regenerative hyperplasia 11.6
2 portal hypertension 10.6
3 banti's syndrome 10.2
4 cystic fibrosis 10.0
5 thrombosis 10.0
6 protein c deficiency 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 portal hypertension 33 HP:0001409

Symptoms via clinical synopsis from OMIM:

58
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

Search Clinical Trials , 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 30 DGUOK

Anatomical Context for Portal Hypertension, Noncirrhotic

Publications for Portal Hypertension, Noncirrhotic

Articles related to Portal Hypertension, Noncirrhotic:

# Title Authors Year
1
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. ( 23043144 )
2012
2
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. ( 17452231 )
2007
3
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. ( 17073823 )
2007
4
Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. ( 11983456 )
2002
5
Idiopathic portal hypertension (noncirrhotic portal fibrosis), thrombosis in portal venous system and protein C deficiency. ( 2807175 )
1989

Variations for Portal Hypertension, Noncirrhotic

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

76
# Symbol AA change Variation ID SNP ID
1 DGUOK p.Asn46Ser VAR_076980 rs763615602

ClinVar genetic disease variations for Portal Hypertension, Noncirrhotic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DGUOK NM_080916.1(DGUOK): c.591G> A (p.Gln197=) single nucleotide variant Pathogenic rs748597500 GRCh38 Chromosome 2, 73950732: 73950732
2 DGUOK NM_080916.1(DGUOK): c.591G> A (p.Gln197=) single nucleotide variant Pathogenic rs748597500 GRCh37 Chromosome 2, 74177859: 74177859
3 DGUOK NM_080916.2(DGUOK): c.137A> G (p.Asn46Ser) single nucleotide variant Pathogenic/Likely pathogenic rs763615602 GRCh37 Chromosome 2, 74154174: 74154174
4 DGUOK NM_080916.2(DGUOK): c.137A> G (p.Asn46Ser) single nucleotide variant Pathogenic/Likely pathogenic rs763615602 GRCh38 Chromosome 2, 73927047: 73927047

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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