NCPH
MCID: NDL013
MIFTS: 50

Nodular Regenerative Hyperplasia (NCPH) malady

Categories: Rare diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Nodular Regenerative Hyperplasia

Aliases & Descriptions for Nodular Regenerative Hyperplasia:

Name: Nodular Regenerative Hyperplasia 50 69
Nodular Regenerative Hyperplasia of the Liver 50 56
Portal Hypertension, Non-Cirrhotic 54 66
Portal Hypertension, Noncirrhotic 66 29
Non-Cirrhotic Nodulation 50 56
Non-Cirrhotic Nodular Transformation 50
Miliary Hepatocellular Adenomatosis 50
Non-Cirrhotic Portal Hypertension 50
Nodular Hyperplasia 69
Ncph 66

Characteristics:

Orphanet epidemiological data:

56
nodular regenerative hyperplasia of the liver
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare hepatic diseases


External Ids:

Orphanet 56 ORPHA48372
ICD10 via Orphanet 34 K76.8
MedGen 40 CN237800
MeSH 42 D006975

Summaries for Nodular Regenerative Hyperplasia

UniProtKB/Swiss-Prot : 66 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 : Nodular Regenerative Hyperplasia, also known as nodular regenerative hyperplasia of the liver, is related to portal hypertension and hepatitis, and has symptoms including portal hypertension and abnormality of the hepatic vasculature. An important gene associated with Nodular Regenerative Hyperplasia is DGUOK (Deoxyguanosine Kinase), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and NOTCH2 Activation and Transmission of Signal to the Nucleus. The drugs Caffeine and Mesalamine have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and bone, and related phenotypes are growth/size/body region and cellular

Wikipedia : 71 Nodular regenerative hyperplasia is a form of liver hyperplasia associated with portal... more...

Related Diseases for Nodular Regenerative Hyperplasia

Diseases related to Nodular Regenerative Hyperplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 portal hypertension 10.5
2 hepatitis 10.4
3 hepatocellular carcinoma 10.2
4 inflammatory bowel disease 10.2
5 primary biliary cirrhosis 10.2
6 colorectal cancer, hereditary nonpolyposis, type 4 10.2 NOTCH1 NOTCH2
7 lupus erythematosus 10.2
8 skin creases, congenital symmetric circumferential, 2 10.1 ITPA TPMT
9 dyslexia 2 10.1 ITPA TPMT
10 systemic lupus erythematosus 10.1
11 liver disease 10.1
12 pulmonary hypertension 10.1
13 peliosis hepatis 10.1
14 parkinson disease 11 10.1 ITPA TPMT
15 celiac disease 10.1
16 lymphoma 10.1
17 common variable immunodeficiency 10.1
18 crest syndrome 10.1
19 polyarteritis nodosa 10.0
20 glomerulonephritis 10.0
21 budd-chiari syndrome 10.0
22 pregnancy loss, recurrent 2 10.0 F3 TPMT
23 secondary lacrimal atrophy 10.0 JAG1 NOTCH1
24 opiate dependence 9.9 JAG1 NOTCH1
25 thrombosis 9.9
26 pancreatitis 9.9
27 leukemia 9.9
28 connective tissue disease 9.9
29 adenoma 9.9
30 rheumatoid vasculitis 9.9
31 myasthenia gravis 9.9
32 vasculitis 9.9
33 cholestasis 9.9
34 macroglobulinemia 9.9
35 hepatoportal sclerosis 9.9
36 arthritis 9.9
37 pineal dysgerminoma 9.9 JAG1 NOTCH1
38 porencephaly 9.9 JAG1 NOTCH2
39 phosphoglycerate dehydrogenase deficiency 9.9 JAG1 NOTCH1 NOTCH2
40 dyserythropoietic anemia, congenital, type ii 9.9 JAG1 NOTCH1 NOTCH2
41 testicular germ cell tumor non-seminomatous 9.8 JAG1 NOTCH1
42 rheumatoid arthritis 9.8
43 crohn's disease 9.8
44 mixed connective tissue disease 9.8
45 dermatomyositis 9.8
46 hypereosinophilic syndrome 9.8
47 cystinosis 9.8
48 pneumonia 9.8
49 chronic graft versus host disease 9.8
50 large granular lymphocyte leukemia 9.8

Graphical network of the top 20 diseases related to Nodular Regenerative Hyperplasia:



Diseases related to Nodular Regenerative Hyperplasia

Symptoms & Phenotypes for Nodular Regenerative Hyperplasia

Clinical features from OMIM:

617068

Human phenotypes related to Nodular Regenerative Hyperplasia:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 portal hypertension 56 32 Occasional (29-5%) HP:0001409
2 abnormality of the hepatic vasculature 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nodular Regenerative Hyperplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 EFNB2 F3 GFER ITPA JAG1 NOTCH1
2 cellular MP:0005384 9.98 EFNB2 F3 GFER ITPA JAG1 NOTCH1
3 hematopoietic system MP:0005397 9.97 EFNB2 F3 ITPA JAG1 NOTCH1 NOTCH2
4 cardiovascular system MP:0005385 9.93 EFNB2 F3 ITPA JAG1 NOTCH1 NOTCH2
5 mortality/aging MP:0010768 9.91 EFNB2 F3 GFER ITPA JAG1 NOTCH1
6 integument MP:0010771 9.8 EFNB2 F3 ITPA JAG1 NOTCH1 NOTCH2
7 muscle MP:0005369 9.63 EFNB2 F3 ITPA JAG1 NOTCH1 NOTCH2
8 respiratory system MP:0005388 9.35 F3 ITPA NOTCH1 NOTCH2 EFNB2
9 vision/eye MP:0005391 9.02 EFNB2 F3 JAG1 NOTCH1 NOTCH2

Drugs & Therapeutics for Nodular Regenerative Hyperplasia

Drugs for Nodular Regenerative Hyperplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
2 Mesalamine Phase 4 89-57-6
3 Analgesics Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Peripheral Nervous System Agents Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Anti-Inflammatory Agents, Non-Steroidal Phase 4
8 Antirheumatic Agents Phase 4
9 Calcium, Dietary Phase 4
10 Calcium Supplement Nutraceutical Phase 4
11
Propranolol Approved, Investigational Phase 3 525-66-6 4946
12 Adrenergic Agents Phase 3
13 Adrenergic Antagonists Phase 3
14 Neurotransmitter Agents Phase 3
15 Adrenergic beta-Antagonists Phase 3
16 Vasodilator Agents Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Antihypertensive Agents Phase 3
19
Epinephrine Approved, Vet_approved 51-43-4 5816
20
Etomidate Approved 33125-97-2 36339 667484
21
Formaldehyde Approved, Vet_approved 50-00-0 712
22 Liver Extracts
23 glucocorticoids
24 Hormone Antagonists
25 Hormones
26 Hormones, Hormone Substitutes, and Hormone Antagonists
27 Epinephryl borate
28 Racepinephrine
29 Mydriatics
30 Adrenergic Agonists
31 Adrenergic alpha-Agonists
32 Adrenergic beta-Agonists
33 Anesthetics
34 Anesthetics, General
35 Anesthetics, Intravenous
36 Vasoconstrictor Agents
37 Hypnotics and Sedatives
38 Anti-Asthmatic Agents
39 Respiratory System Agents
40 Autonomic Agents
41 Bronchodilator Agents
42 Central Nervous System Depressants
43 alanine Nutraceutical

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Clinical Management of Childhood Intestinal Lymphoid Nodular Hyperplasia Unknown status NCT01789294 Phase 4
2 Comparison of Endoscopic Variceal Ligation (EVL) With Propranolol in Non Cirrhotic Portal Hypertension (NCPH) Completed NCT01000779 Phase 3
3 Contrast Enhanced Ultrasound For The Evaluation Of Focal Liver Lesions Unknown status NCT01329458
4 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension Completed NCT02635815
5 Quantitative Real-time Ultrasound Elastography for Characterisation of Liver Tumors Completed NCT02156700
6 Configuration of a New Prostate Disease Nomogram Predicting Prostate Biopsy Outcome Completed NCT01826617
7 Superb Microvascular Imaging in Focal Nodular Hyperplasia Recruiting NCT02737865
8 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
9 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Recruiting NCT02810496
10 Contrast Enhanced (CE) Ultrasound and CE Computed Tomography or CE Magnetic Resonance Imaging in Liver Masses Recruiting NCT00828607
11 Evaluation of Patients With Liver Disease Recruiting NCT00001971
12 A Nation-wide Hospital-based Hepatitis B Registry:China Registry of Hepatitis B Recruiting NCT03108794
13 11C-Metomidate PET Versus Adrenal Vein Sampling in Primary Aldosteronism Active, not recruiting NCT01567111
14 Evaluation of Gastroesophageal Varices by Transnasal Endoscopy. Enrolling by invitation NCT02767206
15 Expression of Protein Convertases in Thyroid Nodules Enrolling by invitation NCT03160482

Search NIH Clinical Center for Nodular Regenerative Hyperplasia

Genetic Tests for Nodular Regenerative Hyperplasia

Genetic tests related to Nodular Regenerative Hyperplasia:

id Genetic test Affiliating Genes
1 Portal Hypertension, Noncirrhotic 29

Anatomical Context for Nodular Regenerative Hyperplasia

MalaCards organs/tissues related to Nodular Regenerative Hyperplasia:

39
Liver, T Cells, Bone, Bone Marrow, Endothelial, B Cells, Fetal Liver

Publications for Nodular Regenerative Hyperplasia

Articles related to Nodular Regenerative Hyperplasia:

(show top 50) (show all 237)
id Title Authors Year
1
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016
2
Ataxia telangiectasia associated with nodular regenerative hyperplasia. ( 27671921 )
2016
3
The Prevalence of Nodular Regenerative Hyperplasia in Inflammatory Bowel Disease Patients Treated with Thioguanine Is Not Associated with Clinically Significant Liver Disease. ( 27482972 )
2016
4
Epigastric Pain in a Patient With Nodular Regenerative Hyperplasia. ( 26827806 )
2016
5
Nodular Regenerative Hyperplasia in Patients Undergoing Liver Resection for Colorectal Metastases After Chemotherapy: Risk Factors, Preoperative Assessment and Clinical Impact. ( 25845431 )
2015
6
P437. Short term prevalence of nodular regenerative hyperplasia of the liver in IBD patients treated with allopurinol-thiopurine combination therapy. ( 25717925 )
2015
7
Development of nodular regenerative hyperplasia (NRH) with portal hypertension following the administration of oxaliplatin for the recurrence of colon cancer. ( 25748953 )
2015
8
Nodular Regenerative Hyperplasia after Liver Transplantation Complicated with Inferior Vena Cava Stenosis: a Clue for Etiopathogenesis? ( 26405712 )
2015
9
A case of nodular regenerative hyperplasia of the liver combined with toxic hepatitis. ( 25603855 )
2015
10
Diagnosing Nodular Regenerative Hyperplasia of the Liver Is Thwarted by Low Interobserver Agreement. ( 26054009 )
2015
11
Indolent cytotoxic T cell lymphoproliferation associated with nodular regenerative hyperplasia: a common liver lesion in the context of common variable immunodeficiency disorder. ( 26493984 )
2015
12
Prevalence and clinical significance of nodular regenerative hyperplasia in liver biopsies. ( 26415006 )
2015
13
Hepatic Lesions Caused by Large Granular Lymphocyte Leukemia in Fischer 344 Rats: Similar Morphologic Features and Morphogenesis to Those of Nodular Regenerative Hyperplasia (NRH) in the Human Liver. ( 25903270 )
2015
14
Hepatopulmonary syndrome associated with nodular regenerative hyperplasia after liver transplantation in a child. ( 24820314 )
2014
15
Drug-induced nodular regenerative hyperplasia. ( 24879987 )
2014
16
Splenic artery ligation for severe oxaliplatin induced portal hypertension: a way to improve postoperative course and allow adjuvant chemotherapy for colorectal liver metastases.: Letter to editor: comment about "Nodular regenerative hyperplasia (NRH) complicating oxaliplatin chemotherapy in patients undergoing resection of colorectal liver metastases". ( 24613742 )
2014
17
Nodular Regenerative Hyperplasia After Treatment With Trastuzumab Emtansine. ( 24778392 )
2014
18
Nodular regenerative hyperplasia of the liver and cutaneous T-cell lymphoma: an unreported association. ( 25075662 )
2014
19
Concurrent liver hodgkin lymphoma and nodular regenerative hyperplasia on an explanted liver with clinical diagnosis of alcoholic cirrhosis at university hospital fundaciA^n santa fe de bogotA!. ( 24511402 )
2014
20
Human immunodeficiency virus and nodular regenerative hyperplasia of liver: A systematic review. ( 24653794 )
2014
21
Hepatocellular carcinoma and nodular regenerative hyperplasia after chemotherapy for metastatic colorectal carcinoma. ( 24604623 )
2014
22
Nodular Regenerative Hyperplasia Causing Portal Hypertension in a Patient with Chronic Graft versus Host Disease: Response to Sirolimus. ( 24434665 )
2014
23
Hepatoportal sclerosis (obliterative portal venopathy) and nodular regenerative hyperplasia in a patient with myasthenia gravis: A case report and review of the published work. ( 23675894 )
2013
24
Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: Endotheliopathy as causal factor. ( 24273032 )
2013
25
Familial occurrence of nodular regenerative hyperplasia of the liver. ( 23287953 )
2013
26
Portal Hypertension, Nodular Regenerative Hyperplasia of the Liver, and Obstructive Portal Venopathy due to Metastatic Breast Cancer. ( 23984149 )
2013
27
Nodular regenerative hyperplasia in common variable immunodeficiency. ( 23420139 )
2013
28
Nodular regenerative hyperplasia (NRH) complicating oxaliplatin chemotherapy in patients undergoing resection of colorectal liver metastases. ( 24370284 )
2013
29
Nodular regenerative hyperplasia related portal hypertension in a patient with hypogammaglobulinaemia. ( 23801845 )
2013
30
Review article: the association between nodular regenerative hyperplasia, inflammatory bowel disease and thiopurine therapy. ( 24099468 )
2013
31
Nodular regenerative hyperplasia of the liver as a complication of long-standing systemic-onset juvenile idiopathic arthritis. ( 24315465 )
2013
32
Downregulation of the Endothelial Genes Notch1 and EphrinB2 in Patients with Nodular Regenerative Hyperplasia. ( 23870033 )
2013
33
Lengthy follow-up after liver transplantation for nodular regenerative hyperplasia in human immunodeficiency virus-infected patients: does the disease recur? ( 24296606 )
2013
34
Unusual Nodular Regenerative Hyperplasia Mimicking Liver Metastases in CEUS. ( 24327467 )
2013
35
Patients with nodular regenerative hyperplasia should be considered for hepatocellular carcinoma screening. ( 23607291 )
2013
36
Nodular regenerative hyperplasia of the liver and portal thrombosis. ( 22880521 )
2012
37
Portal hypertension in nodular regenerative hyperplasia: a mixed bag! ( 22823913 )
2012
38
Noncirrhotic Portal Hypertension due to Nodular Regenerative Hyperplasia Treated with Surgical Portacaval Shunt. ( 22956964 )
2012
39
Clinical analysis of 15 cases of liver nodular regenerative hyperplasia. ( 22707296 )
2012
40
Hepatic hemodynamics in 24 patients with nodular regenerative hyperplasia and symptomatic portal hypertension. ( 22554152 )
2012
41
Interstitial pneumonia and nodular regenerative hyperplasia of the liver as initial manifestations of polyarteritis nodosa. ( 22449674 )
2012
42
Diffuse Muscular Pain, Skin Tightening, and Nodular Regenerative Hyperplasia Revealing Paraneoplastic Amyopathic Dermatomyositis due to Testicular Cancer. ( 23316407 )
2012
43
Nodular regenerative hyperplasia: evolving concepts on underdiagnosed cause of portal hypertension. ( 21472097 )
2011
44
Incidence of nodular regenerative hyperplasia in inflammatory bowel disease patients treated with azathioprine. ( 20848502 )
2011
45
Nodular regenerative hyperplasia of the liver: coral atoll-like lesions on ultrasound are characteristic in predisposed patients. ( 21697407 )
2011
46
Successful use of ursodeoxycholic acid in nodular regenerative hyperplasia of the liver. ( 21450925 )
2011
47
The role of nucleoside and nucleotide analogues in nodular regenerative hyperplasia in HIV-infected patients: a case control study. ( 21056493 )
2011
48
Liver transplantation for the treatment of nodular regenerative hyperplasia. ( 21601542 )
2011
49
A patient with Crohn's disease and portal hypertension. Nodular regenerative hyperplasia. ( 21276765 )
2011
50
Nodular regenerative hyperplasia and portal hypertension in a patient with coeliac disease. ( 22606433 )
2011

Variations for Nodular Regenerative Hyperplasia

UniProtKB/Swiss-Prot genetic disease variations for Nodular Regenerative Hyperplasia:

66
id Symbol AA change Variation ID SNP ID
1 DGUOK p.Asn46Ser VAR_076980 rs763615602

ClinVar genetic disease variations for Nodular Regenerative Hyperplasia:

6
id 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

Expression for Nodular Regenerative Hyperplasia

Search GEO for disease gene expression data for Nodular Regenerative Hyperplasia.

Pathways for Nodular Regenerative Hyperplasia

GO Terms for Nodular Regenerative Hyperplasia

Biological processes related to Nodular Regenerative Hyperplasia according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.67 EFNB2 JAG1 NOTCH2
2 Notch signaling pathway GO:0007219 9.63 JAG1 NOTCH1 NOTCH2
3 negative regulation of cell differentiation GO:0045596 9.57 JAG1 NOTCH1
4 negative regulation of neuron differentiation GO:0045665 9.56 JAG1 NOTCH1
5 nucleobase-containing compound metabolic process GO:0006139 9.55 DGUOK TPMT
6 positive regulation of Notch signaling pathway GO:0045747 9.54 JAG1 NOTCH1
7 neuronal stem cell population maintenance GO:0097150 9.52 JAG1 NOTCH1
8 cell fate determination GO:0001709 9.51 JAG1 NOTCH2
9 negative regulation of stem cell differentiation GO:2000737 9.48 JAG1 NOTCH1
10 response to muramyl dipeptide GO:0032495 9.43 JAG1 NOTCH1
11 cardiac septum morphogenesis GO:0060411 9.4 JAG1 NOTCH1
12 venous blood vessel morphogenesis GO:0048845 9.37 EFNB2 NOTCH1
13 distal tubule development GO:0072017 9.32 JAG1 NOTCH1
14 positive regulation of aorta morphogenesis GO:1903849 9.26 EFNB2 NOTCH1
15 regulation of developmental process GO:0050793 9.16 NOTCH1 NOTCH2
16 pulmonary valve morphogenesis GO:0003184 9.13 JAG1 NOTCH1 NOTCH2
17 Notch signaling involved in heart development GO:0061314 8.8 JAG1 NOTCH1 NOTCH2

Molecular functions related to Nodular Regenerative Hyperplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Notch binding GO:0005112 8.62 JAG1 NOTCH1

Sources for Nodular Regenerative Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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