CEPS
MCID: CNG092
MIFTS: 23

Congenital Extrahepatic Portosystemic Shunt (CEPS)

Categories: Rare diseases

Aliases & Classifications for Congenital Extrahepatic Portosystemic Shunt

MalaCards integrated aliases for Congenital Extrahepatic Portosystemic Shunt:

Name: Congenital Extrahepatic Portosystemic Shunt 52
Abernethy Malformation 52
Ceps 52

Classifications:



Summaries for Congenital Extrahepatic Portosystemic Shunt

NIH Rare Diseases : 52 Congenital extrahepatic portosystemic shunt (CEPS) occurs when the blood vessels that go to the liver do not form correctly during fetal development. Toxins , that are normally removed by the liver, build up in the blood stream and can lead to symptoms such as decreased oxygen to the brain (hypoxia) and loss of brain function (hepatic encephalopathy ). Symptoms can vary from person to person, and some people with CEPS have no symptoms. There are two types of CEPS. In type 1, the blood vessels going to the liver are missing, resulting in almost no blood flow through the liver. In type 2, blood vessels going to the liver have abnormal connections leading to decreased blood flow to the liver. The cause for CEPS is unknown, but it sometimes occurs along with other conditions such as Down syndrome or congenital heart disease. CEPS can be diagnosed by different kinds of imaging studies, including ultrasound and CT scan . Treatment is based on the symptoms, and may include surgery or liver transplant in severe cases. The long-term outlook for people with CEPS depends on the severity of symptoms and the presence of other health conditions.

MalaCards based summary : Congenital Extrahepatic Portosystemic Shunt, also known as abernethy malformation, is related to porphyria, congenital erythropoietic and porphyria. The drugs Tegafur and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and brain.

Related Diseases for Congenital Extrahepatic Portosystemic Shunt

Diseases related to Congenital Extrahepatic Portosystemic Shunt via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 porphyria, congenital erythropoietic 12.4
2 porphyria 11.6
3 porphyria cutanea tarda 11.2
4 cutaneous porphyria 11.2
5 hepatic encephalopathy 10.7
6 hepatic coma 10.7
7 encephalopathy 10.6
8 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
9 portal hypertension 10.5
10 hepatopulmonary syndrome 10.5
11 cyanosis, transient neonatal 10.4
12 adenoma 10.4
13 nodular regenerative hyperplasia 10.4
14 congenital portosystemic shunt 10.4
15 hepatocellular carcinoma 10.4
16 pulmonary hypertension 10.4
17 liver cirrhosis 10.4
18 macular degeneration, age-related, 1 10.4
19 eosinophilic pneumonia 10.4
20 chronic eosinophilic pneumonia 10.4
21 ventricular septal defect 10.4
22 heart septal defect 10.4
23 pneumonia 10.3
24 biliary atresia 10.3
25 hepatoblastoma 10.3
26 heterotaxy 10.3
27 pulmonary arterial hypertension associated with portal hypertension 10.3
28 mucositis 10.2
29 alopecia 10.2
30 vascular disease 10.2
31 hypersplenism 10.2
32 varicose veins 10.1
33 pulmonary arteriovenous fistulas 10.1
34 ataxia and polyneuropathy, adult-onset 10.1
35 patent ductus venosus 10.1
36 fatty liver disease, nonalcoholic 1 10.1
37 visceral heterotaxy 10.1
38 inguinal hernia 10.1
39 thrombosis 10.1
40 pyelonephritis 10.1
41 portal vein thrombosis 10.1
42 visual epilepsy 10.1
43 diarrhea 10.1
44 cholestasis 10.1
45 status epilepticus 10.1
46 hemangioma 10.1
47 hypoglycemia 10.1
48 splenomegaly 10.1
49 aneurysm 10.1
50 seizure disorder 10.1

Graphical network of the top 20 diseases related to Congenital Extrahepatic Portosystemic Shunt:



Diseases related to Congenital Extrahepatic Portosystemic Shunt

Symptoms & Phenotypes for Congenital Extrahepatic Portosystemic Shunt

Drugs & Therapeutics for Congenital Extrahepatic Portosystemic Shunt

Drugs for Congenital Extrahepatic Portosystemic Shunt (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tegafur Approved, Investigational Phase 2 17902-23-7 5386
2
Lenalidomide Approved Phase 2 191732-72-6 216326
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
6
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
7
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
8
Melphalan Approved Phase 2 148-82-3 4053 460612
9
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
10 Antimetabolites Phase 2
11 Protein Kinase Inhibitors Phase 2
12 Angiogenesis Inhibitors Phase 2
13 Immunologic Factors Phase 2
14 Antimitotic Agents Phase 2
15 Halichondrin B Phase 2
16 Anti-Infective Agents Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Anti-Bacterial Agents Phase 2
19 Antifungal Agents Phase 2
20 Immunosuppressive Agents Phase 2
21 Hormone Antagonists Phase 2
22 Hormones Phase 2
23 Alkylating Agents Phase 2
24 Endostar protein Phase 2
25 Endostatins Phase 2 71581480
26
Cediranib Investigational Phase 1 288383-20-0 9933475
27
Maleic acid Experimental, Investigational Phase 1 110-17-8, 110-16-7 444972
28
Levobupivacaine Approved, Investigational 27262-47-1 92253
29
Triamcinolone Approved, Vet_approved 124-94-7 31307
30
Lidocaine Approved, Vet_approved 137-58-6 3676
31
Sorafenib Approved, Investigational 284461-73-0 216239 406563
32 Pharmaceutical Solutions
33 Triamcinolone hexacetonide
34 Triamcinolone diacetate
35 triamcinolone acetonide

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Trial of Metronomic Chemotherapy With Tegafur/Uracil for Patients With Locally Advanced (Stage III~IVB) Head and Neck Squamous Cell Carcinoma (HNSCC) Unknown status NCT00855881 Phase 2 tegafur-uracil
2 Phase II Trial of Metronomic Eribulin (Halaven) in Pretreated Metastatic Breast Cancer (MBC) Completed NCT01908101 Phase 2 Eribulin Mesylate
3 An Angiogenic Study in Patients With Well/Moderately Differentiated Metastatic Pancreatic Neuroendocrine Tumors Treated With Everolimus Completed NCT02305810 Phase 2 Everolimus 10 mg daily
4 An Open Label Phase II Study of Oral Treatment With Sunitinib (SUTENT) in Patients Suffering From Hormone Refractory Prostate Cancer After Progression With Docetaxel Based Regimen Completed NCT00748358 Phase 2 sunitinib
5 Revlimid®, and Metronomic Melphalan in the Management of Higher Risk Myelodysplastic Syndromes (MDS) and CMML: A Phase 2 Study" Completed NCT00744536 Phase 2 Lenalidomide and melphalan
6 A Trial of Endostar in Patients With Carcinoma of the Head and Neck Active, not recruiting NCT02902432 Phase 2 Endostar
7 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
8 Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors Completed NCT00063973 Phase 1 cilengitide
9 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
10 Cervical Epidural Pressure Measurement: Comparison in the Prone and Sitting Positions Unknown status NCT01009385
11 Neuromodulation Therapy for Fecal Incontinence Completed NCT02556151
12 Brain Health: Effects of Exercise on Hippocampal Volume and Memory Deficits in Persons With Schizophrenia Enrolling by invitation NCT01392885
13 Profile of Soluble and Cellular Biomarkers and of Functional Imaging During Antiangiogenic Therapies in Cancer Patients Terminated NCT01507740 Avastin;Suntent;Nexavar

Search NIH Clinical Center for Congenital Extrahepatic Portosystemic Shunt

Genetic Tests for Congenital Extrahepatic Portosystemic Shunt

Anatomical Context for Congenital Extrahepatic Portosystemic Shunt

MalaCards organs/tissues related to Congenital Extrahepatic Portosystemic Shunt:

40
Liver, Endothelial, Brain, Heart, Lung, Prostate, Breast

Publications for Congenital Extrahepatic Portosystemic Shunt

Articles related to Congenital Extrahepatic Portosystemic Shunt:

(show top 50) (show all 452)
# Title Authors PMID Year
1
A 10-year-old boy with dyspnea and hypoxia: abernathy malformation masquerading as pulmonary arteriovenous fistula. 52
30744582 2019
2
Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study. 61
31211875 2020
3
Congenital extrahepatic portosystemic shunt (Abernethy malformation) treated with surgical shunt ligation: A case report and literature review. 61
31783328 2020
4
Non-cirrhotic Extra-Hepatic Porto-Systemic Shunt Causing Adult-Onset Encephalopathy Treated with Endovascular Closure. 61
31900714 2020
5
Chronic exposure to methylmercury induces puncta formation in cephalic dopaminergic neurons in Caenorhabditis elegans. 61
31935438 2020
6
Participants' experiences of the benefits, barriers and facilitators of attending a community-based exercise programme for people with chronic obstructive pulmonary disease. 61
31833614 2019
7
Glucose regulates tissue-specific chondro-osteogenic differentiation of human cartilage endplate stem cells via O-GlcNAcylation of Sox9 and Runx2. 61
31779679 2019
8
Diagnostic value of blood variables following attenuation of congenital extrahepatic portosystemic shunt in dogs. 61
31662576 2019
9
Performance and bacterial community of moving bed biofilm reactors with various biocarriers treating primary wastewater effluent with a low organic strength and low C/N ratio. 61
31082673 2019
10
Cooling the skin for assessing small-fibre function. 61
30985621 2019
11
Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature. 61
30357760 2019
12
Reduction but not elimination: health inequalities among urban, migrant, and rural children in China-the moderating effect of the fathers' education level. 61
31484566 2019
13
Preparation of Chlorella vulgaris polysaccharides and their antioxidant activity in vitro and in vivo. 61
31260772 2019
14
CEP3 levels affect starvation-related growth responses of the primary root. 61
31173100 2019
15
Congenital extrahepatic portosystemic shunt with progressive myelopathy and encephalopathy. 61
31048365 2019
16
Cold-evoked potentials versus contact heat-evoked potentials-Methodological considerations and clinical application. 61
30847980 2019
17
Pulmonary arteriovenous malformations in a patient with single ventricle and polysplenia syndrome. 61
31270088 2019
18
Effect of prebiotics, inorganic salts and amino acids for cell envelope proteinase production from Lactobacillus plantarum LP69. 61
31569909 2019
19
[Education for health. Nutrition and gastronomy in the Autonomous Cities of Melilla and Ceuta]. 61
31232584 2019
20
Customized exercise programs implemented by physical therapists improve exercise-related self-efficacy and promote behavioral changes in elderly individuals without regular exercise: a randomized controlled trial. 61
31288781 2019
21
Effect of Life Review on Quality of Life in Terminal Patients: A Systematic Review and Meta-Analysis. 61
31246646 2019
22
Direct in-situ single-shot measurements of the absolute carrier-envelope phases of ultrashort pulses. 61
31305577 2019
23
Electro-fermentation of iron-enhanced primary sedimentation sludge in a two-chamber bioreactor for product separation and resource recovery. 61
30953849 2019
24
Rapamycin Induced Autophagy Inhibits Inflammation-Mediated Endplate Degeneration by Enhancing Nrf2/Keap1 Signaling of Cartilage Endplate Stem Cells. 61
30840341 2019
25
Pulmonary arterial hypertension caused by congenital extrahepatic portocaval shunt: a case report. 61
31196005 2019
26
Trend of antibiotics usage for acute pyelonephritis in Korea based on national health insurance data 2010-2014. 61
31238896 2019
27
Nutrient supply and nucleus pulposus cell function: effects of the transport properties of the cartilage endplate and potential implications for intradiscal biologic therapy. 61
30721733 2019
28
Independent Regulation of Symbiotic Nodulation by the SUNN Negative and CRA2 Positive Systemic Pathways. 61
30782966 2019
29
Type I congenital extrahepatic portosystemic shunt treated by orthotopic liver transplantation: A case report. 61
31024963 2019
30
Behind the Mirror: Chirality Tunes the Reactivity and Cytotoxicity of Chloropiperidines as Potential Anticancer Agents. 61
30996795 2019
31
Role of interventional radiology in the diagnosis and management of congenital extrahepatic portosystemic shunts: Two case reports. 61
31367096 2019
32
Laparoscopic ligation of a congenital extrahepatic portosystemic shunt for children with hyperammonemia: a single-institution experience. 61
30392166 2019
33
Light-induced generation and toxicity of docosahexaenoate-derived oxidation products in retinal pigmented epithelial cells. 61
30296412 2019
34
Phosphorus release and recovery from Fe-enhanced primary sedimentation sludge via alkaline fermentation. 61
30708329 2019
35
Synthesis of Constrained Tetracyclic Peptides by Consecutive CEPS, CLIPS, and Oxime Ligation. 61
30912446 2019
36
Alpha 2-Macroglobulin as Dual Regulator for Both Anabolism and Catabolism in the Cartilaginous Endplate of Intervertebral Disc. 61
30138255 2019
37
Cold evoked potentials: Acquisition from cervical dermatomes. 61
30551923 2019
38
Effect of prophylactic treatment with levetiracetam on the incidence of postattenuation seizures in dogs undergoing surgical management of single congenital extrahepatic portosystemic shunts. 61
30706530 2019
39
The Importance of Conserved Serine for C-Terminally Encoded Peptides Function Exertion in Apple. 61
30759748 2019
40
[The Effect of Exercise Training on Heart Rate Variability in Patients With Hemodialysis: A Systematic Review]. 61
30648247 2019
41
Matrix modification for enhancing the transport properties of the human cartilage endplate to improve disc nutrition. 61
30970007 2019
42
Chemoenzymatic Synthesis of Linear- and Head-to-Tail Cyclic Peptides Using Omniligase-1. 61
31161503 2019
43
The Characteristics and Outcomes of Abernethy Syndrome in Korean Children: A Single Center Study. 61
30671377 2019
44
Ligustrazine Prevents Intervertebral Disc Degeneration via Suppression of Aberrant TGFβ Activation in Nucleus Pulposus Cells. 61
31886227 2019
45
The contribution of Chinese-educated physicians to health care in the United States. 61
30933988 2019
46
Effects of dynamic loading on solute transport through the human cartilage endplate. 61
30554819 2019
47
Antioxidative and Immunomodulatory Activities of the Exopolysaccharides from Submerged Culture of Hen of the Woods or Maitake Culinary-Medicinal Mushroom, Grifola frondosa (Agaricomycetes) by Addition of Rhizoma gastrodiae Extract and Its Main Components. 61
31679289 2019
48
Fermentation liquor of CaO2 treated chemically enhanced primary sedimentation (CEPS) sludge for bioplastic biosynthesis. 61
29990904 2018
49
Geolocation of hospitalizations registered on the Brazilian National Health System's Hospital Information System: a solution based on the R Statistical Software. 61
30570033 2018
50
Trends and correlation between antibiotic usage and resistance pattern among hospitalized patients at university hospitals in Korea, 2004 to 2012: A nationwide multicenter study. 61
30572507 2018

Variations for Congenital Extrahepatic Portosystemic Shunt

Expression for Congenital Extrahepatic Portosystemic Shunt

Search GEO for disease gene expression data for Congenital Extrahepatic Portosystemic Shunt.

Pathways for Congenital Extrahepatic Portosystemic Shunt

GO Terms for Congenital Extrahepatic Portosystemic Shunt

Sources for Congenital Extrahepatic Portosystemic Shunt

3 CDC
7 CNVD
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11 DGIdb
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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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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