MCID: PRT112
MIFTS: 20

Portal Hypertension, Noncirrhotic

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Portal Hypertension, Noncirrhotic

MalaCards integrated aliases for Portal Hypertension, Noncirrhotic:

Name: Portal Hypertension, Noncirrhotic 57 75 6
Ncph 57 75
Early-Onset Familial Noncirrhotic Portal Hypertension 59
Portal Hypertension, Non-Cirrhotic 75

Characteristics:

OMIM:

57
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:

32
portal hypertension, noncirrhotic:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

OMIM 57 617068
Orphanet 59 ORPHA494348
MeSH 44 D006975

Summaries for Portal Hypertension, Noncirrhotic

UniProtKB/Swiss-Prot : 75 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 portal hypertension and thrombosis. An important gene associated with Portal Hypertension, Noncirrhotic is DGUOK (Deoxyguanosine Kinase). Affiliated tissues include liver, and related phenotypes are portal hypertension and splenomegaly

OMIM : 57 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 portal hypertension 10.3
2 thrombosis 9.9
3 protein c deficiency 9.9
4 banti's syndrome 9.9

Symptoms & Phenotypes for Portal Hypertension, Noncirrhotic

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
portal hypertension
fibromuscular thickening of the portal venules seen on biopsy
narrowed venule lumens
normal liver synthetic function

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

AbdomenSpleen:
splenomegaly

Laboratory Abnormalities:
normal liver enzymes


Clinical features from OMIM:

617068

Human phenotypes related to Portal Hypertension, Noncirrhotic:

32
# Description HPO Frequency HPO Source Accession
1 portal hypertension 32 HP:0001409
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240

Drugs & Therapeutics for Portal Hypertension, Noncirrhotic

Search Clinical Trials , NIH Clinical Center for Portal Hypertension, Noncirrhotic

Genetic Tests for Portal Hypertension, Noncirrhotic

Anatomical Context for Portal Hypertension, Noncirrhotic

MalaCards organs/tissues related to Portal Hypertension, Noncirrhotic:

41
Liver

Publications for Portal Hypertension, Noncirrhotic

Articles related to Portal Hypertension, Noncirrhotic:

# Title Authors Year
1
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:

75
# 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_080916.2(DGUOK): c.137A> G (p.Asn46Ser) single nucleotide variant Pathogenic rs763615602 GRCh37 Chromosome 2, 74154174: 74154174
2 DGUOK NM_080916.2(DGUOK): c.137A> G (p.Asn46Ser) single nucleotide variant 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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