MCID: NDL013
MIFTS: 53

Nodular Regenerative Hyperplasia

Categories: Rare diseases, Liver diseases

Aliases & Classifications for Nodular Regenerative Hyperplasia

MalaCards integrated aliases for Nodular Regenerative Hyperplasia:

Name: Nodular Regenerative Hyperplasia 49 69
Nodular Regenerative Hyperplasia of the Liver 49 55
Non-Cirrhotic Nodulation 49 55
Non-Cirrhotic Nodular Transformation 49
Miliary Hepatocellular Adenomatosis 49
Non-Cirrhotic Portal Hypertension 49
Nodular Hyperplasia 69

Characteristics:

Orphanet epidemiological data:

55
nodular regenerative hyperplasia of the liver
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare hepatic diseases


External Ids:

Orphanet 55 ORPHA48372
ICD10 via Orphanet 33 K76.8
SNOMED-CT via HPO 65 34742003

Summaries for Nodular Regenerative Hyperplasia

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 48372Disease definitionNodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.Visit the Orphanet disease page for more resources. Last updated: 4/14/2015

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 NOTCH1 (Notch 1), and among its related pathways/superpathways are Notch signaling pathway (KEGG) and Th17 cell differentiation. The drugs Caffeine and Mesalamine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, and related phenotypes are growth/size/body region and cellular

Wikipedia : 72 Nodular regenerative hyperplasia is a form of liver hyperplasia associated with portal hypertension.... 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 111)
# Related Disease Score Top Affiliating Genes
1 portal hypertension 10.6
2 hepatitis 10.5
3 hepatocellular carcinoma 10.3
4 inflammatory bowel disease 10.3
5 primary biliary cirrhosis 10.3
6 biliary cirrhosis, primary, 1 10.3
7 lupus erythematosus 10.2
8 liver disease 10.2
9 fibrosis of extraocular muscles, congenital, 1 10.2
10 pulmonary hypertension 10.2
11 peliosis hepatis 10.2
12 systemic lupus erythematosus 10.2
13 celiac disease 1 10.2
14 lymphoma 10.2
15 crest syndrome 10.2
16 common variable immunodeficiency 10.2
17 polyarteritis nodosa, childhood-onset 10.1
18 budd-chiari syndrome 10.1
19 polyarteritis nodosa 10.1
20 scleroderma, familial progressive 10.1
21 glomerulonephritis 10.1
22 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1 JAG1 NOTCH1
23 ossifying fibroma 10.1 JAG1 NOTCH1
24 lacrimal gland adenoid cystic carcinoma 10.0 NOTCH1 NOTCH2
25 tricuspid valve stenosis 10.0 JAG1 NOTCH1
26 thiopurines, poor metabolism of, 1 10.0 ITPA TPMT
27 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
28 rheumatoid vasculitis 10.0
29 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
30 leukemia 10.0
31 vasculitis 10.0
32 membranous nephropathy 10.0
33 myasthenia gravis 10.0
34 episodic pain syndrome, familial, 1 10.0
35 cholestasis 10.0
36 macroglobulinemia 10.0
37 hepatoportal sclerosis 10.0
38 arthritis 10.0
39 thrombosis 10.0
40 pancreatitis 10.0
41 connective tissue disease 10.0
42 adenoma 10.0
43 myasthenia gravis congenital 10.0
44 lacrimal gland adenocarcinoma 10.0 NOTCH1 NOTCH2
45 spinal cord ependymoma 10.0 JAG1 NOTCH1
46 esophageal varix 9.9
47 collagen disease 9.9
48 graft-versus-host disease 9.9
49 portal vein thrombosis 9.9
50 splenomegaly 9.9

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



Diseases related to Nodular Regenerative Hyperplasia

Symptoms & Phenotypes for Nodular Regenerative Hyperplasia

Human phenotypes related to Nodular Regenerative Hyperplasia:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 portal hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0001409
2 abnormality of the hepatic vasculature 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Nodular Regenerative Hyperplasia:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 PCNA TPMT NOTCH2 NOTCH1 GFER ITPA
2 cellular MP:0005384 10.04 NOTCH2 JAG1 F3 NOTCH1 GFER ITPA
3 hematopoietic system MP:0005397 10.03 PCNA TPMT NOTCH2 F3 NOTCH1 ITPA
4 cardiovascular system MP:0005385 9.99 NOTCH2 JAG1 F3 NOTCH1 ITPA EFNB2
5 mortality/aging MP:0010768 9.97 PCNA TPMT NOTCH2 F3 NOTCH1 GFER
6 homeostasis/metabolism MP:0005376 9.95 NOTCH2 TPMT NOTCH1 JAG1 F3 GFER
7 embryo MP:0005380 9.88 NOTCH2 JAG1 F3 NOTCH1 EFNB2
8 integument MP:0010771 9.85 NOTCH2 F3 NOTCH1 ITPA EFNB2 JAG1
9 muscle MP:0005369 9.73 NOTCH2 F3 NOTCH1 ITPA EFNB2 JAG1
10 neoplasm MP:0002006 9.46 NOTCH2 NOTCH1 F3 GFER
11 respiratory system MP:0005388 9.35 NOTCH2 F3 NOTCH1 ITPA EFNB2
12 vision/eye MP:0005391 9.02 NOTCH2 JAG1 F3 NOTCH1 EFNB2

Drugs & Therapeutics for Nodular Regenerative Hyperplasia

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

(show top 50) (show all 53)
# 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 Adrenergic beta-Antagonists Phase 3
15 Neurotransmitter Agents Phase 3
16 Vasodilator Agents Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Antihypertensive Agents Phase 3
19
Doxorubicin Approved, Investigational 23214-92-8 31703
20
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
23
Ifosfamide Approved 3778-73-2 3690
24
Dactinomycin Approved, Investigational 50-76-0 457193 2019
25 Racepinephrine Approved 329-65-7
26
Etomidate Approved 33125-97-2 667484 36339
27
Formaldehyde Approved, Vet_approved 50-00-0 712
28
Doxil Approved June 1999 31703
29 Liver Extracts
30 Isophosphamide mustard 0
31 glucocorticoids
32 Coagulants
33 Hematinics
34 Hemostatics
35 Hormone Antagonists
36 Hormones
37 Hormones, Hormone Substitutes, and Hormone Antagonists
38 Epinephryl borate
39 Respiratory System Agents
40 Central Nervous System Depressants
41 Adrenergic Agonists
42 Adrenergic alpha-Agonists
43 Mydriatics
44 Adrenergic beta-Agonists
45 Vasoconstrictor Agents
46 Anesthetics
47 Anesthetics, General
48 Anesthetics, Intravenous
49 Anti-Asthmatic Agents
50 Hypnotics and Sedatives

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
1 Clinical Management of Childhood Intestinal Lymphoid Nodular Hyperplasia Unknown status NCT01789294 Phase 4 Mesalamine
2 Comparison of Endoscopic Variceal Ligation (EVL) With Propranolol in Non Cirrhotic Portal Hypertension (NCPH) Completed NCT01000779 Phase 3 Propranolol
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 Contrast Enhanced (CE) Ultrasound and CE Computed Tomography or CE Magnetic Resonance Imaging in Liver Masses Completed NCT00828607
8 Superb Microvascular Imaging in Focal Nodular Hyperplasia Recruiting NCT02737865 Sonazoid
9 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
10 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Recruiting NCT02810496
11 Efficacy and Tolerability of Hemopatch After Hepatic Resection Recruiting NCT03323359
12 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
13 Comparison of Hydro-dissection Versus Ultrasonic Aspirator in Division of Liver Parenchyma in Laparoscopic Resection Recruiting NCT03208192
14 Evaluation of Patients With Liver Disease Recruiting NCT00001971
15 A Nation-wide Hospital-based Hepatitis B Registry:China Registry of Hepatitis B Recruiting NCT03108794
16 11C-Metomidate PET Versus Adrenal Vein Sampling in Primary Aldosteronism Active, not recruiting NCT01567111
17 Evaluation of Gastroesophageal Varices by Transnasal Endoscopy. Enrolling by invitation NCT02767206
18 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

Anatomical Context for Nodular Regenerative Hyperplasia

MalaCards organs/tissues related to Nodular Regenerative Hyperplasia:

38
Liver, Bone Marrow, Bone, Kidney, Prostate, Thyroid, T Cells

Publications for Nodular Regenerative Hyperplasia

Articles related to Nodular Regenerative Hyperplasia:

(show top 50) (show all 243)
# Title Authors Year
1
Nodular Regenerative Hyperplasia of the Liver: A Rare Vascular Complication in Systemic Sclerosis. ( 29093156 )
2018
2
A Rare Cause of Portal Hypertension: Behcet's Disease and Nodular Regenerative Hyperplasia of the Liver. ( 28465872 )
2017
3
Nodular Regenerative Hyperplasia of the Liver in Patients with IBD Treated with Allopurinol-Thiopurine Combination Therapy. ( 28151736 )
2017
4
Nodular regenerative hyperplasia rarely leads to liver transplantation: A 20-year cohort study in all Dutch liver transplant units. ( 28815029 )
2017
5
Nodular Regenerative Hyperplasia in HIV-positive patients : a case series and review of the literature. ( 29364092 )
2017
6
Nodular Regenerative Hyperplasia: A Case of Rare Prognosis. ( 28491877 )
2017
7
The Prevalence of Nodular Regenerative Hyperplasia in Inflammatory Bowel Disease Patients Treated with Thioguanine Is Not Associated with Clinically Significant Liver Disease. ( 27482972 )
2016
8
A case of idiopathic portal hypertension associated with nodular regenerative hyperplasia-like nodule of the liver and mixed connective tissue disease. ( 27151480 )
2016
9
Epigastric Pain in a Patient With Nodular Regenerative Hyperplasia. ( 26827806 )
2016
10
Ataxia telangiectasia associated with nodular regenerative hyperplasia. ( 27671921 )
2016
11
A case of nodular regenerative hyperplasia of the liver combined with toxic hepatitis. ( 25603855 )
2015
12
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
13
Nodular Regenerative Hyperplasia in Patients Undergoing Liver Resection for Colorectal Metastases After Chemotherapy: Risk Factors, Preoperative Assessment and Clinical Impact. ( 25845431 )
2015
14
Nodular Regenerative Hyperplasia after Liver Transplantation Complicated with Inferior Vena Cava Stenosis: a Clue for Etiopathogenesis? ( 26405712 )
2015
15
Indolent cytotoxic T cell lymphoproliferation associated with nodular regenerative hyperplasia: a common liver lesion in the context of common variable immunodeficiency disorder. ( 26493984 )
2015
16
Development of nodular regenerative hyperplasia (NRH) with portal hypertension following the administration of oxaliplatin for the recurrence of colon cancer. ( 25748953 )
2015
17
Diagnosing Nodular Regenerative Hyperplasia of the Liver Is Thwarted by Low Interobserver Agreement. ( 26054009 )
2015
18
P437. Short term prevalence of nodular regenerative hyperplasia of the liver in IBD patients treated with allopurinol-thiopurine combination therapy. ( 25717925 )
2015
19
Prevalence and clinical significance of nodular regenerative hyperplasia in liver biopsies. ( 26415006 )
2015
20
Nodular regenerative hyperplasia of the liver and cutaneous T-cell lymphoma: an unreported association. ( 25075662 )
2014
21
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
22
Hepatocellular carcinoma and nodular regenerative hyperplasia after chemotherapy for metastatic colorectal carcinoma. ( 24604623 )
2014
23
Nodular Regenerative Hyperplasia Causing Portal Hypertension in a Patient with Chronic Graft versus Host Disease: Response to Sirolimus. ( 24434665 )
2014
24
Hepatopulmonary syndrome associated with nodular regenerative hyperplasia after liver transplantation in a child. ( 24820314 )
2014
25
Drug-induced nodular regenerative hyperplasia. ( 24879987 )
2014
26
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
27
Nodular Regenerative Hyperplasia After Treatment With Trastuzumab Emtansine. ( 24778392 )
2014
28
Human immunodeficiency virus and nodular regenerative hyperplasia of liver: A systematic review. ( 24653794 )
2014
29
Nodular regenerative hyperplasia of the liver as a complication of long-standing systemic-onset juvenile idiopathic arthritis. ( 24315465 )
2013
30
Review article: the association between nodular regenerative hyperplasia, inflammatory bowel disease and thiopurine therapy. ( 24099468 )
2013
31
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
32
Unusual Nodular Regenerative Hyperplasia Mimicking Liver Metastases in CEUS. ( 24327467 )
2013
33
Nodular regenerative hyperplasia (NRH) complicating oxaliplatin chemotherapy in patients undergoing resection of colorectal liver metastases. ( 24370284 )
2013
34
Patients with nodular regenerative hyperplasia should be considered for hepatocellular carcinoma screening. ( 23607291 )
2013
35
Nodular regenerative hyperplasia related portal hypertension in a patient with hypogammaglobulinaemia. ( 23801845 )
2013
36
Downregulation of the Endothelial Genes Notch1 and EphrinB2 in Patients with Nodular Regenerative Hyperplasia. ( 23870033 )
2013
37
Lengthy follow-up after liver transplantation for nodular regenerative hyperplasia in human immunodeficiency virus-infected patients: does the disease recur? ( 24296606 )
2013
38
Familial occurrence of nodular regenerative hyperplasia of the liver. ( 23287953 )
2013
39
Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: Endotheliopathy as causal factor. ( 24273032 )
2013
40
Portal Hypertension, Nodular Regenerative Hyperplasia of the Liver, and Obstructive Portal Venopathy due to Metastatic Breast Cancer. ( 23984149 )
2013
41
Nodular regenerative hyperplasia in common variable immunodeficiency. ( 23420139 )
2013
42
Interstitial pneumonia and nodular regenerative hyperplasia of the liver as initial manifestations of polyarteritis nodosa. ( 22449674 )
2012
43
Noncirrhotic Portal Hypertension due to Nodular Regenerative Hyperplasia Treated with Surgical Portacaval Shunt. ( 22956964 )
2012
44
Nodular regenerative hyperplasia of the liver and portal thrombosis. ( 22880521 )
2012
45
Portal hypertension in nodular regenerative hyperplasia: a mixed bag! ( 22823913 )
2012
46
Hepatic hemodynamics in 24 patients with nodular regenerative hyperplasia and symptomatic portal hypertension. ( 22554152 )
2012
47
Clinical analysis of 15 cases of liver nodular regenerative hyperplasia. ( 22707296 )
2012
48
Diffuse Muscular Pain, Skin Tightening, and Nodular Regenerative Hyperplasia Revealing Paraneoplastic Amyopathic Dermatomyositis due to Testicular Cancer. ( 23316407 )
2012
49
Liver transplantation for the treatment of nodular regenerative hyperplasia. ( 21601542 )
2011
50
A patient with Crohn's disease and portal hypertension. Nodular regenerative hyperplasia. ( 21276765 )
2011

Variations for Nodular Regenerative Hyperplasia

Expression for Nodular Regenerative Hyperplasia

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

Pathways for Nodular Regenerative Hyperplasia

Pathways related to Nodular Regenerative Hyperplasia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 JAG1 NOTCH1 NOTCH2
2
Show member pathways
12.22 JAG1 NOTCH1 NOTCH2
3
Show member pathways
12.19 JAG1 NOTCH1 NOTCH2
4 11.84 JAG1 NOTCH1 NOTCH2
5
Show member pathways
11.59 JAG1 NOTCH1 NOTCH2
6 11.2 JAG1 NOTCH1 PCNA
7 11.14 JAG1 NOTCH1
8 10.99 NOTCH1 NOTCH2
9 10.97 EFNB2 F3 JAG1 NOTCH1 NOTCH2
10 10.86 ITPA TPMT
11 10.62 JAG1 NOTCH1
12 10.56 JAG1 NOTCH1 NOTCH2
13 10.55 JAG1 NOTCH1

GO Terms for Nodular Regenerative Hyperplasia

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

(show all 18)
# 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 9.58 JAG1 NOTCH1
4 negative regulation of neuron differentiation GO:0045665 9.57 JAG1 NOTCH1
5 positive regulation of Notch signaling pathway GO:0045747 9.56 JAG1 NOTCH1
6 neuronal stem cell population maintenance GO:0097150 9.55 JAG1 NOTCH1
7 positive regulation of Ras protein signal transduction GO:0046579 9.54 NOTCH1 NOTCH2
8 cell fate determination GO:0001709 9.52 JAG1 NOTCH2
9 negative regulation of stem cell differentiation GO:2000737 9.51 JAG1 NOTCH1
10 response to muramyl dipeptide GO:0032495 9.48 JAG1 NOTCH1
11 cardiac septum morphogenesis GO:0060411 9.43 JAG1 NOTCH1
12 venous blood vessel morphogenesis GO:0048845 9.4 EFNB2 NOTCH1
13 regulation of developmental process GO:0050793 9.37 NOTCH1 NOTCH2
14 distal tubule development GO:0072017 9.32 JAG1 NOTCH1
15 positive regulation of aorta morphogenesis GO:1903849 9.26 EFNB2 NOTCH1
16 negative regulation of growth rate GO:0045967 9.16 NOTCH1 NOTCH2
17 pulmonary valve morphogenesis GO:0003184 9.13 JAG1 NOTCH1 NOTCH2
18 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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