MCID: ENC018
MIFTS: 64

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 72
Brain Diseases 72

Classifications:



External Ids:

ICD10 33 G93.4
UMLS 72 C0006111 C0085584

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 early myoclonic encephalopathy and epileptic encephalopathy, early infantile, 9, and has symptoms including seizures, ataxia and tremor. An important gene associated with Encephalopathy is PRNP (Prion Protein), and among its related pathways/superpathways are Neuroscience and Interaction between L1 and Ankyrins. The drugs Magnesium oxide and Ciprofloxacin 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 : 75 Encephalopathy (/E>nEOsE>fETE^lE'pETI,i/; from Ancient Greek: a??I?IoI?I??I>I?I, "brain" + I?I?I,I?I,... 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
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect

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

(show top 50) (show all 2225)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 34.2 SLC25A22 SCN1A CDKL5
2 epileptic encephalopathy, early infantile, 9 34.2 SCN1A PCDH19 MECP2 CDKL5
3 epileptic encephalopathy, early infantile, 6 34.0 STXBP1 SLC25A22 SCN1A PCDH19 CDKL5
4 febrile infection-related epilepsy syndrome 33.3 SCN1A PCDH19
5 malignant migrating partial seizures of infancy 33.3 SLC25A22 SCN1A
6 west syndrome 33.1 STXBP1 SPTAN1 SCN1A MECP2 CDKL5
7 undetermined early-onset epileptic encephalopathy 32.6 STXBP1 SLC13A5 NECAP1 ARV1 AP3B2
8 seizure disorder 31.9 SCN1A MECP2 CDKL5
9 kohlschutter-tonz syndrome 31.8 SLC13A5 SERPINI1
10 rett syndrome 31.8 STXBP1 MECP2 CDKL5
11 early infantile epileptic encephalopathy 31.5 STXBP1 SPTAN1 SLC25A22 SLC13A5 SCN1A PCDH19
12 visual epilepsy 31.4 STXBP1 SCN1A MECP2 FRRS1L CDKL5
13 focal epilepsy 30.9 SPTAN1 SCN1A CDKL5
14 epilepsy 30.7 STXBP1 SERPINI1 SCN1A PCDH19 MECP2 CDKL5
15 gait apraxia 30.3 MECP2 CDKL5
16 bruxism 30.1 MECP2 FRRS1L CDKL5
17 wernicke encephalopathy 12.6
18 encephalopathy, ethylmalonic 12.6
19 glycine encephalopathy 12.5
20 hepatic encephalopathy 12.5
21 hypertensive encephalopathy 12.5
22 encephalopathy, familial, with neuroserpin inclusion bodies 12.5
23 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.5
24 epileptic encephalopathy, early infantile, 1 12.5
25 epileptic encephalopathy, early infantile, 4 12.5
26 stxbp1 encephalopathy with epilepsy 12.5
27 mecp2-related severe neonatal encephalopathy 12.5
28 encephalopathy, acute, infection-induced 4 12.5
29 epileptic encephalopathy, early infantile, 7 12.5
30 chd2 myoclonic encephalopathy 12.5
31 acute necrotizing encephalopathy type 1 12.5
32 epileptic encephalopathy, early infantile, 2 12.4
33 epileptic encephalopathy, early infantile, 12 12.4
34 epileptic encephalopathy, early infantile, 3 12.4
35 encephalopathy, neonatal severe, due to mecp2 mutations 12.4
36 scn8a-related epilepsy with encephalopathy 12.4
37 epileptic encephalopathy, early infantile, 14 12.4
38 epileptic encephalopathy, early infantile, 27 12.4
39 epileptic encephalopathy, early infantile, 50 12.4
40 epileptic encephalopathy, early infantile, 8 12.4
41 encephalopathy due to defective mitochondrial and peroxisomal fission 1 12.4
42 epileptic encephalopathy, early infantile, 26 12.4
43 epileptic encephalopathy, early infantile, 13 12.4
44 epileptic encephalopathy, early infantile, 23 12.4
45 epileptic encephalopathy, early infantile, 11 12.4
46 epileptic encephalopathy, early infantile, 15 12.4
47 epileptic encephalopathy, early infantile, 29 12.4
48 epileptic encephalopathy, early infantile, 35 12.4
49 epileptic encephalopathy, early infantile, 28 12.4
50 scn8a encephalopathy 12.4

Comorbidity relations with Encephalopathy via Phenotypic Disease Network (PDN): (show all 28)


3-Hydroxyacyl-Coa Dehydrogenase Deficiency Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Alzheimer Disease Bronchitis
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease 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 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, chronic pain, opisthotonus, pseudobulbar signs, cogwheel rigidity, sciatica, vertigo/dizziness, sleeplessness, nervousness, cerebellar ataxia, dizziness, hyperexplexia, akathisia, catatonic reaction

MGI Mouse Phenotypes related to Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AP3B2 ARV1 CDKL5 DNM1L ETHE1 FRRS1L
2 nervous system MP:0003631 9.32 AP3B2 CDKL5 DNM1L GNAO1 MECP2 PCDH19

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 560)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium oxide Approved Phase 4 1309-48-4 14792
2
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
3
Imipenem Approved Phase 4 74431-23-5, 64221-86-9 104838
4
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
5
Cefoxitin Approved Phase 4 35607-66-0 441199
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
8
Azithromycin Approved Phase 4 83905-01-5 447043 55185
9
Vancomycin Approved Phase 4 1404-90-6 441141 14969
10
Insulin Aspart Approved Phase 4 116094-23-6 16132418
11
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
12
Promethazine Approved, Investigational Phase 4 60-87-7 4927
13
Histamine Approved, Investigational Phase 4 51-45-6 774
14
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
15
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
16
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
17
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
18
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
19
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
20
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
21
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
22
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
23
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 4 90-89-1 3052
24
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
25
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
26
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
27
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
28
Azathioprine Approved Phase 4 446-86-6 2265
29
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
30
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
31
Memantine Approved, Investigational Phase 4 19982-08-2 4054
32
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
33
Prazosin Approved Phase 4 19216-56-9 4893
34
Tranexamic Acid Approved Phase 4 1197-18-8 5526
35
Atorvastatin Approved Phase 4 134523-00-5 60823
36
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
37
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
38
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
39
Tolvaptan Approved Phase 4 150683-30-0 216237
40
Ethanol Approved Phase 4 64-17-5 702
41
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
42
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
43
Isoleucine Approved, Investigational, Nutraceutical Phase 4 443-79-8, 73-32-5 6306
44
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
45
Adefovir Investigational Phase 4 106941-25-7
46 arginine Phase 4
47
Bilirubin Phase 4 635-65-4, 69853-43-6 5280352 21252250
48 Carbidopa, levodopa drug combination Phase 4
49 Amoxicillin-Potassium Clavulanate Combination Phase 4
50 Pharmaceutical Solutions Phase 4

Interventional clinical trials:

(show top 50) (show all 1011)
# Name Status NCT ID Phase Drugs
1 Low-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy: A Randomized Open Controlled Study Unknown status NCT03077217 Phase 4 Rifaximin
2 Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis: an Open Labeled Randomized Controlled Trial of Lactulose Versus no Lactulose Unknown status NCT01175538 Phase 4 Lactulose;Lactulose
3 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis: An Open Label, Randomized Controlled Trial of Lactulose, Probiotics and No-therapy Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
4 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
5 Efficacy of Combined Oral L-Ornithine-L-Aspartate and Oral Lactulose in Patients With Hepatic Encephalopathy Unknown status NCT00740142 Phase 4 L-ornithine-L-aspartate and lactulose;placebo and lactulose
6 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Liver Cirrhosis and Minimal Encephalopathy: a Single Center Placebo Control Double Blind Study Unknown status NCT00896831 Phase 4 L-ornithine-L-aspartate;placebo
7 Randomized Controlled Trial Comparing Effects of Sedation for Upper Gastrointestinal Endoscopy With Propofol Versus Midazolam on Psychometric Tests and Critical Flicker Frequency in Cirrhotics Unknown status NCT01356121 Phase 4 Propofol;Midazolam
8 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
9 Double Blind, Randomised, Cross-over Study Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
10 Magnesium Deficiency in Cirrhotic Patients Unknown status NCT01894867 Phase 4
11 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
12 Utilisation du Dispositif BBloo® Pour le Traitement de l'ictère néonatal : Satisfaction Des Parents et Des Personnels Soignants Unknown status NCT02156050 Phase 4
13 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4 herbal drug;placebo
14 Efficacy and Safety Study of Tolvaptan for Liver Cirrhotic Patients With Hyponatremia and Ascites: A Multi-center, Randomized, Double-blind, Placebo-controlled 4-weeks Clinical Trial Unknown status NCT01716611 Phase 4 Tolvaptan;placebo
15 Bacterial Infections Associated With Healthcare (Healthcare-Associated) in Hospitalized Cirrhotic Patients: Randomized Study of Use of Traditional Empirical Antibiotic Therapy and Second-line Targeted at Multi-resistant Bacteria Unknown status NCT01820026 Phase 4 Imipenem;Vancomycin;azithromycin;Cefotaxime;Amoxicillin
16 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4
17 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
18 Effect of Albumine Infusion in the Prevention of Hepatic Encephalopathy After Transjugular Intrahepatic Portosystemic Shunt Completed NCT01559519 Phase 4 Albumin
19 A Multicenter, Randomized, Open-Label, Active-Controlled, Trial To Evaluate The Safety And Efficacy Of Rifaximin 550 Mg With And Without Lactulose In Subjects With A History Of Recurrent Overt Hepatic Encephalopathy Completed NCT01842581 Phase 4 Rifaximin;Rifaximin and Lactulose
20 Septic Encephalopathy and Late Cognitive Dysfunction in Patients With Sepsis - the Role of Inflammation Completed NCT00772096 Phase 4 n-3 fatty acids
21 Effect of the Proteins of the Diet in Patients With Cirrhosis and a Prior Episode of Hepatic Encephalopathy. A Randomized Study Completed NCT00955500 Phase 4
22 Effects of the Administration of Albumin in Patients With Cirrhosis and Acute Hepatic Encephalopathy. Completed NCT00886925 Phase 4 Albumin;Sodium chloride 0.9%
23 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
24 The Infusion of L-Ornithine L-aspart is as Effective as Nonabsorbable Disaccharides in the Management of Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4 L-ornithine-L-aspartate;Lactose
25 Comparison of Three Different Schemes:Lactulose, L-ornithine L-aspartate, or Rifaximin, Versus Placebo, as Primary Prophylaxis of the Development of Hepatic Encephalopathy After Acute Variceal Bleeding in Cirrhotic Patients Completed NCT02158182 Phase 4 Lactulose;L-ornithine L-aspartate;Rifaximin;Placebo
26 Multicenter, Randomized, Double-blind, Placebo-controlled Study on the Effectiveness of Treatment With Beta-blockers to Prevent Decompensation of Cirrhosis With Portal Hypertension Completed NCT01059396 Phase 4 propranolol;carvedilol;placebo
27 LOLA in Hepatic Encephalopathy Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate A Phase iv Randomised Double Blind Placebo- Controlled Trial Completed NCT01847651 Phase 4 LOLA or placebo
28 A Placebo Controlled Single Centre Double Blind Randomised Trial to Investigate the Efficacy of Rifaximin Versus Placebo in Improving Systemic Inflammation and Neutrophil Malfunction in Patients With Cirrhosis and Chronic Hepatic Encephalopathy Completed NCT02019784 Phase 4 Rifaximin-α;Placebo Oral Tablet
29 A Randomized, Controlled, Multicentric Trial Comparing Endoscopic Band Ligation Versus Ransjugular Intrahepatic Portosystemic Stent Shunt in Cirrhotic Patients With Recurrent Variceal Bleeding Non Responding to Medical Therapy Completed NCT00570973 Phase 4
30 High-fiber High-fiber Diet and Branched Chain Aminoacids. Impact on Nutritional Status and Complications in Patients With Liver Cirrhosis Completed NCT02023229 Phase 4
31 Midodrine and Albumin for Cirrhotic Patients in the Waiting List for Liver Transplantation Completed NCT00839358 Phase 4 albumin;Midodrine;Placebo
32 Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
33 Single High Dose Vitamin E and Vitamin C in Hypoxic Ischemic Encephalopathy (Following Birth Asphyxia)in Newborns Completed NCT01743742 Phase 4 Vitamin E, Vitamin C
34 Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease Completed NCT01831934 Phase 4
35 A Clinical Trial of the Vessel Sealing System (LigaSure) in Azygoportal Disconnection and Splenectomy in Patients With Portal Hypertension Completed NCT00965744 Phase 4
36 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease: Changes in Biomarkers of Oxidative Stress, Profiles of Plasma Amino Acids and Their Derivatives and Brain Function Completed NCT01662414 Phase 4
37 Comparative Study of Dexmedetomidine-midazolam Combination and Propofol-midazolam Combination for MRI Brain in Paediatric Patient Completed NCT02776189 Phase 4 Dexmedetomidine;propofol;Midazolam
38 Simvastatin: Proof-of-Concept for Prevention of Neurodegeneration in Mild TBI Completed NCT01952288 Phase 4 simvastatin;Placebo Oral Tablet
39 Safety and Efficacy of Steroids in the Management of Fulminant Hepatic Failure Due to Hepatitis A Virus in the Pediatric Age Group Completed NCT02375867 Phase 4 prednisolone;methylprednisolone
40 A Prospective, Open-label Study of the Structure and Function of the Retina in Adult Patients With Refractory Complex Partial Seizures Treated With Vigabatrin (Sabril®) Completed NCT01278173 Phase 4 Sabril
41 Phase IV, Double-blind, Multi-center, Randomized, Crossover Study to Compare 0.1 mmol/kg of Prohance® With 0.1 mmol/kg of Gadovist®/Gadavist™ in Magnetic Resonance Imaging (MRI) of the Brain (TRUTH) Completed NCT01613417 Phase 4 gadoteridol;gadobutrol
42 Phase IV, Double Blind, Multi-Center, Randomized, Two-Arm Crossover Study to Compare 0.1 mmol/kg of MultiHance With 0.1 mmol/kg of Dotarem and 0.05 mmol/kg of MultiHance With 0.1 mmol/kg of Dotarem in MRI of the Brain Completed NCT02070380 Phase 4 MultiHance 0.1 mmol/kg;Dotarem;MultiHance 0.05 mmol/kg
43 A Randomized Controlled Trial of Lamivudine in Acute Hepatitis B Completed NCT00380614 Phase 4 Lamivudine
44 Pharmacokinetics of Buprenorphine and Naloxone in Subjects With Mild to Severe Hepatic Impairment (Child-Pugh Classes, A, B, and C), in HCV-Seropositive Subjects, and in Healthy Volunteers Completed NCT01846455 Phase 4 2.0mg Buprenorphine/0.5mg Naloxone;Promethazine
45 Clinical Interest of Endovascular Cooling in the Management of Cardiac Arrest: Impact on Mortality in a Randomized Medico-economical Trial (the ICEREA Study) Completed NCT00392639 Phase 4
46 Intestinal Decontamination With Rifaximin. Effects on the Inflammatory and Circulatory State in Patients With Cirrhosis and Ascites - A Randomised Controlled Clinical Study Completed NCT01769040 Phase 4 Rifaximin;placebo
47 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
48 Optimum Thiamine Intervention (OpT In) for Treatment and Prevention of Wernicke-Korsakoff Syndrome (WKS): A Randomised Controlled Trial Completed NCT02788552 Phase 4 Thiamine Hydrochloride
49 Ramelteon for Treatment of Insomnia in Cirrhosis Completed NCT03091738 Phase 4 Ramelteon Pill
50 Study of the Effect of VSL#3 (Original De Simone Formulation) on Cognitive Function, Risk of Falls and Quality of Life in Patients With Cirrhosis Completed NCT01686698 Phase 4

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, Kidney, Heart, Bone

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 34266)
# Title Authors PMID Year
1
Deregulated sphingolipid metabolism and membrane organization in neurodegenerative disorders. 9 38
20127207 2010
2
Antituberculosis therapy-induced acute liver failure: magnitude, profile, prognosis, and predictors of outcome. 9 38
20196116 2010
3
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 9 38
20400524 2010
4
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 9 38
19780792 2010
5
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 9 38
20397747 2010
6
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. 9 38
19428276 2010
7
[Epileptic encephalopathy due to partial biotinidase deficiency]. 9 38
20171151 2010
8
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. 9 38
20508364 2010
9
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 9 38
19589774 2010
10
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. 9 38
20031247 2010
11
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 9 38
19782004 2009
12
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 9 38
19793311 2009
13
Predictive factors for rebleeding and death in alcoholic cirrhotic patients with acute variceal bleeding: a multivariate analysis. 9 38
19672651 2009
14
Neuromyelitis optica - an update: 2007-2009. 9 38
20182570 2009
15
Natural course of fulminant hepatic failure: the scenario in Bangladesh and the differences from the west. 9 38
19794267 2009
16
De novo mutations in POLG presenting with acute liver failure or encephalopathy. 9 38
19252446 2009
17
Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response. 9 38
19423713 2009
18
Performance of the hepatic encephalopathy scoring algorithm in a clinical trial of patients with cirrhosis and severe hepatic encephalopathy. 9 38
19455117 2009
19
[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. 9 38
20050118 2009
20
Survival predictors in patients treated with a molecular adsorbent recirculating system. 9 38
19554655 2009
21
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases. 9 38
19210954 2009
22
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. 9 38
18985075 2009
23
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 9 38
19161156 2009
24
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 9 38
19136963 2009
25
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 9 38
19214208 2009
26
[Changes in plasma S-100 beta and neuron-specific enolase in peri-operative period of orthotopic liver transplantation and its relationship with encephalopathy after operation]. 9 38
19220958 2009
27
A patient with anti-aquaporin 4 antibody who presented with recurrent hypersomnia, reduced orexin (hypocretin) level, and symmetrical hypothalamic lesions. 9 38
18226957 2009
28
Late onset ulcerative colitis complicating a patient with Budd-Chiari syndrome: a case report and review of the literature. 9 38
19060635 2009
29
Liver function test results and outcomes in children with acute liver failure due to dengue infection. 9 38
19323033 2009
30
Albumin dialysis improves hepatic encephalopathy and decreases circulating phenolic aromatic amino acids in patients with alcoholic hepatitis and severe liver failure. 9 38
19175915 2009
31
Inherited metabolic disorders and cerebral infarction. 9 38
18986243 2008
32
Myelin basic protein in cerebrospinal fluid: a predictive marker of delayed encephalopathy from carbon monoxide poisoning. 9 38
18926351 2008
33
Key clinical features to identify girls with CDKL5 mutations. 9 38
18790821 2008
34
Steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) with negative thyroperoxidase antibodies. 9 38
18837747 2008
35
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 9 38
18524658 2008
36
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 9 38
18477000 2008
37
The three stages of epilepsy in patients with CDKL5 mutations. 9 38
18266744 2008
38
Differential metabolic consequences of fumarate hydratase and respiratory chain defects. 9 38
18313410 2008
39
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. 9 38
18306170 2008
40
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. 9 38
18414167 2008
41
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. 9 38
18396045 2008
42
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 9 38
17993579 2008
43
Encephalopathy after high-dose Ifosfamide: a retrospective cohort study and review of the literature. 9 38
18840018 2008
44
Prognostic factors in paediatric acute liver failure. 9 38
17872939 2008
45
Anti-thyroperoxidase antibodies from patients with Hashimoto's encephalopathy bind to cerebellar astrocytes. 9 38
17963848 2007
46
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 9 38
18174559 2007
47
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 9 38
17698383 2007
48
Fulminant hepatic failure in an African setting: etiology, clinical course, and predictors of mortality. 9 38
17436091 2007
49
Validation of ICD-9-CM/ICD-10 coding algorithms for the identification of patients with acetaminophen overdose and hepatotoxicity using administrative data. 9 38
17910762 2007
50
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 9 38
17668384 2007

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TGFB1 NM_000660.7(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Likely pathogenic rs1555755308 19:41858817-41858817 19:41352912-41352912
2 TGFB1 NM_000660.7(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Likely pathogenic rs1555755242 19:41858622-41858622 19:41352717-41352717
3 TGFB1 NM_000660.7(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Likely pathogenic rs1336387628 19:41836971-41836971 19:41331066-41331066
4 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 2:210642248-210642248 2:209777524-209777524
5 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 2:210678443-210678443 2:209813719-209813719
6 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 2:210737641-210737641 2:209872917-209872917
7 46;XY;inv(14)(q13q24.1) inversion Likely pathogenic
8 46;XY;inv(9)(p21.2p22.1) inversion Uncertain significance
9 ABCA12 ; ATIC ; BARD1 ; FN1 deletion Uncertain significance 2:215485042-216474011 :0-0
10 MT-ND4 NC_012920.1: m.12018C> G single nucleotide variant Uncertain significance rs1057516068 MT:12018-12018 MT:12018-12018
11 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 MT:12013-12013 MT:12013-12013
12 MT-ND4 NC_012920.1: m.11815C> G single nucleotide variant Uncertain significance rs879025367 MT:11815-11815 MT:11815-11815

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 STXBP1 SCN1A PRNP MECP2 GNAO1
2 10.43 SPTAN1 SCN1A

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 9.86 STXBP1 SPTAN1 SLC25A22 SLC13A5 SERAC1 SCN1A
2 mitochondrion GO:0005739 9.7 STXBP1 SLC25A22 SERAC1 RANBP2 MECP2 ETHE1
3 postsynapse GO:0098794 8.8 STXBP1 PRNP MECP2

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 9.46 RANBP2 GNAO1 DNM1L CDKL5
2 neuromuscular process controlling posture GO:0050884 8.96 SCN1A MECP2
3 regulation of glutamate receptor signaling pathway GO:1900449 8.62 PRNP FRRS1L

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.92 RANBP2 PRNP GNAO1 DNM1L

Sources for Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....