MCID: ENC018
MIFTS: 62

Encephalopathy

Categories: Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 54 54 29 55 6 40
Encephalopathies 73
Brain Diseases 73

Classifications:



External Ids:

Summaries for Encephalopathy

NINDS : 54 Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, AGS2 is caused by a mutation in the RNASEH2B gene, AGS3 is caused by a mutation in the RNASEH2C gene, AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).

MalaCards based summary : Encephalopathy, also known as encephalopathies, is related to epileptic encephalopathy, early infantile, 6 and epileptic encephalopathy, early infantile, 9, and has symptoms including seizures, ataxia and tremor. An important gene associated with Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are Neuroscience and Glypican 1 network. The drugs Metformin and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 76 Encephalopathy (/�?n�?s�?f�?�?l�?p�?θi/; from Ancient Greek: ἐνκέ�?αλο�? "brain" + �?άθο�? "suffering")... more...

Related Diseases for Encephalopathy

Diseases in the Encephalopathy family:

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2

Diseases related to Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1123)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 33.5 CDKL5 PCDH19 SCN1A SLC25A22 STXBP1
2 epileptic encephalopathy, early infantile, 9 33.4 CDKL5 MECP2 PCDH19 SCN1A
3 infantile epileptic encephalopathy 33.4 CDKL5 PCDH19 SCN1A SPTAN1 STXBP1
4 early myoclonic encephalopathy 33.4 CDKL5 SCN1A SLC25A22
5 early infantile epileptic encephalopathy 32.7 ARV1 CDKL5 DENND5A FRRS1L GNAO1 PCDH19
6 undetermined early-onset epileptic encephalopathy 32.6 AP3B2 ARV1 SLC13A5 STXBP1
7 west syndrome 32.5 CDKL5 MECP2 SCN1A SPTAN1 STXBP1
8 febrile infection-related epilepsy syndrome 32.5 PCDH19 SCN1A
9 malignant migrating partial seizures of infancy 31.9 SCN1A SLC25A22
10 kohlschutter-tonz syndrome 31.4 SERPINI1 SLC13A5
11 epilepsy 30.6 CDKL5 MECP2 PCDH19 SCN1A SERPINI1 STXBP1
12 seizure disorder 30.5 CDKL5 MECP2 SCN1A
13 focal epilepsy 29.9 CDKL5 SCN1A SPTAN1
14 bruxism 29.4 CDKL5 FRRS1L MECP2
15 wernicke encephalopathy 12.4
16 encephalopathy, ethylmalonic 12.4
17 hepatic encephalopathy 12.4
18 glycine encephalopathy 12.4
19 encephalopathy, familial, with neuroserpin inclusion bodies 12.4
20 hypertensive encephalopathy 12.4
21 stxbp1 encephalopathy with epilepsy 12.3
22 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.3
23 encephalopathy, acute, infection-induced 4 12.3
24 chd2 myoclonic encephalopathy 12.3
25 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.3
26 hashimoto encephalopathy 12.3
27 epileptic encephalopathy, early infantile, 3 12.3
28 scn8a-related epilepsy with encephalopathy 12.3
29 scn8a encephalopathy 12.3
30 epileptic encephalopathy, early infantile, 7 12.2
31 mitochondrial neurogastrointestinal encephalopathy disease 12.2
32 acute necrotizing encephalopathy type 1 12.2
33 epileptic encephalopathy, childhood-onset 12.2
34 acute necrotizing encephalopathy 12.2
35 epileptic encephalopathy, early infantile, 15 12.2
36 epileptic encephalopathy, early infantile, 1 12.2
37 epileptic encephalopathy, early infantile, 4 12.2
38 gnao1 encephalopathy 12.2
39 encephalopathy, neonatal severe, due to mecp2 mutations 12.2
40 mecp2-related severe neonatal encephalopathy 12.2
41 epileptic encephalopathy, early infantile, 12 12.2
42 epileptic encephalopathy, early infantile, 8 12.2
43 encephalopathy due to defective mitochondrial and peroxisomal fission 1 12.2
44 epileptic encephalopathy, early infantile, 39 12.1
45 epileptic encephalopathy, early infantile, 27 12.1
46 epileptic encephalopathy, early infantile, 17 12.1
47 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 12.1
48 epileptic encephalopathy, early infantile, 26 12.1
49 toxic encephalopathy 12.1
50 epileptic encephalopathy, early infantile, 29 12.1

Comorbidity relations with Encephalopathy via Phenotypic Disease Network (PDN): (show all 31)


3-Hydroxyacyl-Coa Dehydrogenase Deficiency Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Alzheimer Disease Bronchitis
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Chronic Kidney Failure
Chronic Myocardial Ischemia Decubitus Ulcer
Deficiency Anemia Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation
Familial Atrial Fibrillation Heart Disease
Hepatic Encephalopathy Hypertension, Essential
Hypoglycemia Hypothyroidism
Iron Deficiency Anemia Ischemic Heart Disease
Kidney Disease Parkinson Disease, Late-Onset
Peripheral Vascular Disease Protein-Energy Malnutrition
Respiratory Failure Schizophreniform Disorder
Status Epilepticus Swallowing Disorders
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Encephalopathy:



Diseases related to Encephalopathy

Symptoms & Phenotypes for Encephalopathy

UMLS symptoms related to Encephalopathy:


seizures, ataxia, tremor, myoclonus, dystonia, back pain, vertigo, pain, agitation, headache, hemiplegia, torticollis, syncope, athetosis, opisthotonus, pseudobulbar signs, cogwheel rigidity, chronic pain, sciatica, cerebellar ataxia, dizziness, akathisia, nervousness, vertigo/dizziness, sleeplessness, hyperexplexia, catatonic reaction

MGI Mouse Phenotypes related to Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AP3B2 ARV1 CDKL5 DNM1L ETHE1 FRRS1L
2 nervous system MP:0003631 9.7 AP3B2 CDKL5 DNM1L GNAO1 MECP2 PCDH19
3 vision/eye MP:0005391 9.17 AP3B2 CDKL5 DNM1L GNAO1 MECP2 PRNP

Drugs & Therapeutics for Encephalopathy

Drugs for Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 546)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
2
Lactulose Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 4618-18-2 11333
3
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
4
Midazolam Approved, Illicit Phase 4,Not Applicable 59467-70-8 4192
5
Rifaximin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 80621-81-4 6436173
6
Magnesium oxide Approved Phase 4 1309-48-4 14792
7
Dopamine Approved Phase 4,Phase 1 51-61-6, 62-31-7 681
8
Levodopa Approved Phase 4 59-92-7 6047
9
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
10
Nadolol Approved Phase 4,Phase 3 42200-33-9 39147
11
Carvedilol Approved, Investigational Phase 4,Not Applicable 72956-09-3 2585
12
acetic acid Approved Phase 4 64-19-7 176
13
Propranolol Approved, Investigational Phase 4,Phase 3,Not Applicable 525-66-6 4946
14
Entecavir Approved, Investigational Phase 4,Phase 3,Phase 2 142217-69-4 153941
15
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
16
Norfloxacin Approved Phase 4,Phase 2,Phase 3,Not Applicable 70458-96-7 4539
17
Adefovir Dipivoxil Approved, Investigational Phase 4,Phase 3 142340-99-6 60871
18
Insulin Aspart Approved Phase 4 116094-23-6 16132418
19
Tocopherol Approved, Investigational Phase 4,Phase 2 1406-66-2 14986
20
Midodrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 133163-28-7, 42794-76-3 4195
21
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
22
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
23
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
24
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
25
Colchicine Approved Phase 4 64-86-8 6167 2833
26
Peginterferon alfa-2b Approved Phase 4,Phase 3 99210-65-8, 215647-85-1
27
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
28
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
29
Acetylcysteine Approved, Investigational Phase 4,Phase 3,Phase 2 616-91-1 12035
30
Cysteamine Approved, Investigational Phase 4,Phase 2 60-23-1 6058
31
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
32
Nevirapine Approved Phase 4 129618-40-2 4463
33
Diphenhydramine Approved, Investigational Phase 4,Phase 3,Phase 1 147-24-0, 58-73-1 3100
34
Promethazine Approved, Investigational Phase 4,Phase 3,Phase 1 60-87-7 4927
35
Histamine Approved, Investigational Phase 4,Phase 3 51-45-6, 75614-87-8 774
36
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
37
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
38
Mannitol Approved, Investigational Phase 4,Phase 3,Not Applicable 69-65-8 453 6251
39
Terlipressin Approved, Investigational Phase 4,Phase 3,Not Applicable 14636-12-5 72081
40
Lypressin Approved Phase 4,Not Applicable 50-57-7
41
Ibuprofen Approved Phase 4,Phase 3,Not Applicable 15687-27-1 3672
42
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 103-90-2 1983
43
Tolvaptan Approved Phase 4,Phase 3,Phase 2 150683-30-0 216237
44
Racepinephrine Approved Phase 4,Phase 2,Phase 3 329-65-7 838
45
Formaldehyde Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-00-0 712
46
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3 51-43-4 5816
47
Tranexamic Acid Approved Phase 4 1197-18-8 5526
48
Prazosin Approved Phase 4 19216-56-9 4893
49
chenodeoxycholic acid Approved Phase 4,Phase 3 474-25-9 10133
50
Nifedipine Approved Phase 4 21829-25-4 4485

Interventional clinical trials:

(show top 50) (show all 750)
# Name Status NCT ID Phase Drugs
1 Metformin Experience on Minimal Hepatic Encephalopathy Unknown status NCT02470546 Phase 4 Metformin;Placebo
2 Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis Unknown status NCT01175538 Phase 4 Lactulose;Lactulose
3 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
4 Efficacy of Combined Oral L-Ornithine-L-Aspartate and Lactulose in Patients With Hepatic Encephalopathy Unknown status NCT00740142 Phase 4 L-ornithine-L-aspartate and lactulose;placebo and lactulose
5 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Minimal Encephalopathy Unknown status NCT00896831 Phase 4 L-ornithine-L-aspartate;placebo
6 Trial Comparing Sedation for Endoscopy With Propofol Versus Midazolam in Cirrhotics Unknown status NCT01356121 Phase 4 Propofol;Midazolam
7 Rifaximin Versus Lactulose in Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
8 Magnesium in Liver Cirrhosis Unknown status NCT01894867 Phase 4
9 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
10 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
11 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
12 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4 herbal drug;placebo
13 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
14 Study About Simvastatin in Portal Hypertension in Compensated Cirrhosis Unknown status NCT01282398 Phase 4 Simvastatin;placebo
15 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
16 Hemodynamic Effect of Simvastatin With Beta Blockers in Clinical Portal Hypertension Unknown status NCT01282385 Phase 4 Simvastatin;placebo
17 The Effect of Carvedilol VS Endoscopic Therapy in Primary Prophylaxis of High-risk Esophageal Gastric Variceal Bleeding Unknown status NCT02695732 Phase 4 Carvedilol
18 Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis Unknown status NCT01438437 Phase 4
19 The Effect of Carvedilol Vs Propranolol in Cirrhotic Patients With Variceal Bleeding Unknown status NCT02385422 Phase 4 Carvedilol;Propranolol
20 The Effect of Branched-chain Amino Acid on the Improvement of Serum Albumin Level in Cirrhotic Patients With Ascites Unknown status NCT02755701 Phase 4 Branched-chain Amino Acid;Placebo
21 Lactulose, L-ornithine L-aspartate, or Rifaximin Versus Placebo for Preventing Hepatic Encephalopathy in Variceal Bleeding Completed NCT02158182 Phase 4 Lactulose;L-ornithine L-aspartate;Rifaximin;Placebo
22 Efficacy of Albumin for Acute Encephalopathy in Patients With Cirrhosis Completed NCT00886925 Phase 4 Albumin;Sodium chloride 0.9%
23 Post Transjugular Intrahepatic Portosystemic Shunt (Tips) Albumine Infusion to Prevent Hepatic Encephalopathy Completed NCT01559519 Phase 4 Albumin
24 Effects of Proteins in Patients With Cirrhosis and Prior Hepatic Encephalopathy Completed NCT00955500 Phase 4
25 Efficacy of L-Ornithine L-Aspartate in Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4 L-ornithine-L-aspartate;Lactose
26 L-ornithine L-aspartate in Overt Hepatic Encephalopathy Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
27 Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate Completed NCT01847651 Phase 4 LOLA or placebo
28 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
29 The Safety/Efficacy Of Rifaximin With/Without Lactulose In Subjects With A History Of Recurrent Hepatic Encephalopathy Completed NCT01842581 Phase 4 Rifaximin;Rifaximin and Lactulose
30 Randomised Controlled Trial of Mechanistic Effects of Rifaximin in Cirrhosis and Chronic Hepatic Encephalopathy Completed NCT02019784 Phase 4 Rifaximin-α;Placebo Oral Tablet
31 Septic Encephalopathy and Late Cognitive Dysfunction Completed NCT00772096 Phase 4 n-3 fatty acids
32 Branched Chain Aminoacid Supplementation in Patients With Liver Cirrhosis Completed NCT02023229 Phase 4
33 Single High Dose Vitamin C, E in Severe Birth Asphyxia Completed NCT01743742 Phase 4 Vitamin E, Vitamin C
34 Effect of Midodrine and Albumine in the Prevention of Complications in Cirrhotic Patients Awaiting Liver Transplantation Completed NCT00839358 Phase 4 albumin;Midodrine;Placebo
35 Study on B-blockers to Prevent Decompensation of Cirrhosis With HTPortal Completed NCT01059396 Phase 4 propranolol;carvedilol;placebo
36 Steroids in Fulminant Hepatitis A in the Pediatric Age Group Completed NCT02375867 Phase 4 prednisolone;methylprednisolone
37 Band Ligation Versus Transjugular Intrahepatic Portosystemic Stent Shunt (TIPS) in Cirrhotics With Recurrent Variceal Bleeding Non Responding to Medical Therapy Completed NCT00570973 Phase 4
38 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
39 Ramelteon for Treatment of Insomnia in Cirrhosis Completed NCT03091738 Phase 4 Ramelteon Pill
40 Study of Long-term Peg Intron vs. Colchicine in Non-responders. Completed NCT00179413 Phase 4 PEG -Intron;Colchicine
41 Optimized Treatment and Regression of HBV-induced Compensated Liver Cirrhosis Completed NCT01943617 Phase 4 Entecavir;Thymosin-α
42 Entecavir Intensification for Persistent HBV Viremia in HIV-HBV Infection Completed NCT00662545 Phase 4 Entecavir with continued standard of care antiretroviral therapy;continued standard of care with tenofovir in addition to emtricitabine or lamivudine
43 Norfloxacin Versus Ciprofloxacin for Spontaneous Bacterial Peritonitis (SBP) Prevention Completed NCT01542801 Phase 4 Norfloxacin;ciprofloxacin
44 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
45 Effects on Plasma Exchange on Functional Capacity of Serum Albumin, Circulatory Dysfunction, Renal and Cerebral Function in Cirrhotic Patients With "Acute-on-chronic Liver Failure" Completed NCT01201720 Phase 4
46 Nevirapine vs. Atazanavir Boosted With Ritonavir on a Background of Truvada in Human Immunodeficiency Virus (HIV) Infected Naive Patients (NEwArT) Completed NCT00552240 Phase 4 tenofovir DF 300 mg QD;tenofovir DF 300 mg QD;emtricitabine 200 mg QD;emtricitabine 200 mg QD;Nevirapine 200 mg BID;Atazanavir 300 mg;Ritonavir 100 mg
47 Adefovir Dipivoxil For The Treatment Of Patients With Chronic Hepatitis B Related Advanced Fibrosis Or Cirrhosis Completed NCT00347009 Phase 4 adefovir dipivoxil
48 Single Dose Pharmacokinetics of Suboxone Study in Hepatic Impaired Subjects Completed NCT01846455 Phase 4 2.0mg Buprenorphine/0.5mg Naloxone;Promethazine
49 Immunogenicity and Safety Study of GlaxoSmithKline (GSK) Biologicals' Boostrix™ Vaccine in Pregnant Women Completed NCT02377349 Phase 4 Saline placebo
50 Efficacy, Safety, And Pharmacokinetics Of Rifaximin In Subjects With Severe Hepatic Impairment And Hepatic Encephalopathy Recruiting NCT01846663 Phase 4 Placebo;Rifaximin

Search NIH Clinical Center for Encephalopathy

Genetic Tests for Encephalopathy

Genetic tests related to Encephalopathy:

# Genetic test Affiliating Genes
1 Encephalopathy 29

Anatomical Context for Encephalopathy

MalaCards organs/tissues related to Encephalopathy:

41
Brain, Liver, Testes, Thyroid, Eye, Kidney, Heart

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 8034)
# Title Authors Year
1
Melatonin as an adjunct to therapeutic hypothermia in a piglet model of neonatal encephalopathy: A translational study. ( 30300675 )
2019
2
Clinical diagnostic significance of prealbumin, cholinesterase and retinol binding protein in liver cirrhosis combined with encephalopathy. ( 30392460 )
2019
3
Acute kidney injury in neonatal encephalopathy: an evaluation of the AWAKEN database. ( 30155763 )
2019
4
Posterior Reversible Encephalopathy Syndrome Secondary to Acute PostStreptococcal Glomerulonephritis in a 12-year-old Girl. ( 29290203 )
2018
5
RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy. ( 29687329 )
2018
6
Posterior reversible encephalopathy syndrome and takotsubo cardiomyopathy associated with lenvatinib therapy for thyroid cancer: a case report and review. ( 29963277 )
2018
7
Encephalopathy in an adult with cat-scratch disease. ( 29507029 )
2018
8
Tanshinone IIA improves hypoxic ischemic encephalopathy through TLRa894a89mediated NFa89I_B signal pathway. ( 29956801 )
2018
9
Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report. ( 29386039 )
2018
10
An aggravated return-to-work case of organic solvent induced chronic toxic encephalopathy. ( 29719722 )
2018
11
Human T-cell lymphotropic virus (HTLV)-associated encephalopathy: an under-recognised cause of acute encephalitis? Case series and literature review. ( 29423617 )
2018
12
Disrupted Brain Intrinsic Networks and Executive Dysfunction in Cirrhotic Patients without Overt Hepatic Encephalopathy. ( 29422882 )
2018
13
A Case of Wernicke Encephalopathy Developing After Ileal Bypass Surgery. ( 29596284 )
2018
14
An adult case with shigellosis-associated encephalopathy. ( 29351935 )
2018
15
Chronic Traumatic Encephalopathy in Professional American Football Players: Where Are We Now? ( 29971037 )
2018
16
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
17
Mutations in SCN3A cause early infantile epileptic encephalopathy. ( 29466837 )
2018
18
Comparison of prognostic systems in cirrhotic patients with hepatic encephalopathy ( 29914250 )
2018
19
Association of hemolysis, elevated liver enzymes, low platelets syndrome with posterior reversible encephalopathy and intracranial hypotension. ( 29322989 )
2018
20
Identification of Protein Kinase C Isoforms Involved in Type 1 Diabetic Encephalopathy in Mice. ( 29744369 )
2018
21
Effect of probiotic treatment on cirrhotic patients with minimal hepatic encephalopathy: A meta-analysis. ( 29428113 )
2018
22
Control of macrophage autophagy by miR-384-5p in the development of diabetic encephalopathy. ( 29511445 )
2018
23
Is Lactulose Plus Rifaximin Better than Lactulose Alone in the Management of Hepatic Encephalopathy? ( 29394969 )
2018
24
Focal segmental glomerulosclerosis in children complicated by posterior reversible encephalopathy syndrome. ( 29310486 )
2018
25
Covert hepatic encephalopathy leads to distinct alterations in the emotional state, independently of MELD-Score. ( 29341039 )
2018
26
Patient Acceptance of Lactulose Varies Between Indian and American Cohorts: Implications for Comparing and Designing Global Hepatic Encephalopathy Trials. ( 29892171 )
2018
27
Acute toxic encephalopathy induced by occupational exposure to 1,2-dichloropropane. ( 29973469 )
2018
28
Evoked potential studies for predicting functional recovery in a case of acute necrotizing encephalopathy. ( 29744063 )
2018
29
Clinical Findings and Neurologic Outcome in Neonatal Encephalopathy With White Matter Injury Accompanied by Rotavirus. ( 29433417 )
2018
30
Baicalin reverses the impairment of synaptogenesis induced by dopamine burden via the stimulation of GABA<sub>A</sub>R-TrkB interaction in minimal hepatic encephalopathy. ( 29404643 )
2018
31
Inhibiting the NLRP3 Inflammasome Activation with MCC950 Ameliorates Diabetic Encephalopathy in db/db Mice. ( 29495433 )
2018
32
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. ( 29902590 )
2018
33
Effect of sirolimus on liver cirrhosis and hepatic encephalopathy of common bile duct-ligated rats. ( 29444470 )
2018
34
Case Report: Probable Case of Spontaneous Encephalopathy Due to Loiasis and Dramatic Reduction of <i>Loa loa</i> Microfilariaemia with Prolonged Repeated Courses of Albendazole. ( 29741149 )
2018
35
Refractory Hepatic Encephalopathy After Elective Transjugular Intrahepatic Portosystemic Shunt: Risk Factors and Outcomes with Revision. ( 29872892 )
2018
36
Adult severe encephalitis/encephalopathy with a reversible splenial lesion of the corpus callosum: A case report. ( 29953022 )
2018
37
Hashimoto's encephalopathy presenting as pseudobulbar palsy. ( 29368307 )
2018
38
Aberrant Brain Bile Acid Signaling and Cholesterol Accumulation: A New Look at Mechanisms in Hepatic Encephalopathy. ( 29928680 )
2018
39
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. ( 29696052 )
2018
40
EEG findings in CAR T-cell therapy-related encephalopathy. ( 29959264 )
2018
41
Identification of modules of hepatic encephalopathy based on protein-protein network and gene expression data. ( 29849776 )
2018
42
A Seizure and Hemiplegia following Contrast Exposure: Understanding Contrast-Induced Encephalopathy. ( 29686712 )
2018
43
Acute focal bacterial nephritis characterized by acute encephalopathy with biphasic seizures and late reduced diffusion. ( 29752196 )
2018
44
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )
2018
45
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU. ( 29858110 )
2018
46
CT Scan Is Still a Valuable Tool to Assess Hepatic Encephalopathy Pathophysiology in Both Acute and Chronic Liver Diseases. ( 29912129 )
2018
47
Acute necrotizing encephalopathy in an adult with influenza A infection. ( 29720877 )
2018
48
Hepatic encephalopathy: causes and health-related burden. ( 29411993 )
2018
49
New Developments in Hypertensive Encephalopathy. ( 29480370 )
2018
50
The Etiological Spectrum of Febrile Encephalopathy in Adult Patients: A Cross-Sectional Study from a Developing Country. ( 29971164 )
2018

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 GRCh38 Chromosome 2, 209777524: 209777524
2 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 GRCh37 Chromosome 2, 210642248: 210642248
3 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 GRCh38 Chromosome 2, 209813719: 209813719
4 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 GRCh37 Chromosome 2, 210678443: 210678443
5 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 GRCh38 Chromosome 2, 209872917: 209872917
6 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 GRCh37 Chromosome 2, 210737641: 210737641
7 MT-ND4 NC_012920.1: m.11815C> G single nucleotide variant Uncertain significance rs879025367 GRCh37 Chromosome MT, 11815: 11815
8 MT-ND4 NC_012920.1: m.11815C> G single nucleotide variant Uncertain significance rs879025367 GRCh38 Chromosome MT, 11815: 11815
9 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 GRCh37 Chromosome MT, 12013: 12013
10 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 GRCh38 Chromosome MT, 12013: 12013
11 MT-ND4 NC_012920.1: m.12018C> G single nucleotide variant Uncertain significance rs1057516068 GRCh37 Chromosome MT, 12018: 12018
12 MT-ND4 NC_012920.1: m.12018C> G single nucleotide variant Uncertain significance rs1057516068 GRCh38 Chromosome MT, 12018: 12018
13 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41858817: 41858817
14 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41352912: 41352912
15 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41352717: 41352717
16 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41858622: 41858622
17 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41836971: 41836971
18 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41331066: 41331066

Copy number variations for Encephalopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 43413 10 46400346 51237832 Duplication Encephalopathy
2 211019 6 31900000 33600000 Microdeletion HLA-DPB1 Encephalopathy
3 211020 6 31900000 33600000 Microdeletion HLA-DPB2 Encephalopathy

Expression for Encephalopathy

Search GEO for disease gene expression data for Encephalopathy.

Pathways for Encephalopathy

Pathways related to Encephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.56 GNAO1 MECP2 PRNP SCN1A STXBP1
2 10.37 PRNP TGFB1

GO Terms for Encephalopathy

Cellular components related to Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.83 AP3B2 ARV1 DENND5A DNM1L FRRS1L GNAO1
2 mitochondrion GO:0005739 9.7 DNM1L ETHE1 MECP2 RANBP2 SERAC1 SLC25A22
3 postsynapse GO:0098794 8.92 DNM1L MECP2 PRNP STXBP1

Biological processes related to Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.56 CDKL5 DNM1L GNAO1 RANBP2
2 neuromuscular process controlling posture GO:0050884 9.16 MECP2 SCN1A
3 negative regulation of interleukin-17 production GO:0032700 8.96 PRNP TGFB1
4 regulation of glutamate receptor signaling pathway GO:1900449 8.62 FRRS1L PRNP

Molecular functions related to Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.13 MECP2 STXBP1 TGFB1
2 protein-containing complex binding GO:0044877 8.92 DNM1L GNAO1 PRNP RANBP2

Sources for Encephalopathy

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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