MCID: ENC018
MIFTS: 64

Encephalopathy

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 52 75 28 53 5 38
Toxic Cerebrospinal Inflammation 33
Toxic Brain Stem Inflammation 33
Toxic Cerebrospinal Fever 33
Toxic Brain Inflammation 33
Encephalopathy Syndrome 33
Encephalopathy Disease 33
Toxic Encephalopathy 33
Toxic Cerebral Fever 33
Encephalopathy Nec 33
Encephalopathy Nos 33
Toxic Brain Fever 33
Encephalopathies 71
Brain Diseases 71

Classifications:



External Ids:

ICD10 31 G93.4
UMLS 71 C0006111 C0085584

Summaries for Encephalopathy

NINDS: 52 Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.

MalaCards based summary: Encephalopathy, also known as toxic cerebrospinal inflammation, is related to developmental and epileptic encephalopathy 1 and glycine encephalopathy, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are Dravet syndrome and Rett syndrome causing genes. The drugs Lactulose and Rifaximin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye, and related phenotypes are shRNA abundance <= 50% and Reduced mammosphere formation

Wikipedia: 75 Encephalopathy (/ɛnˌsɛfəˈlɒpəθi/; from Ancient Greek: ἐνκέφαλος "brain" + πάθος "suffering") means any... 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 Stxbp1-Related Encephalopathy

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

(show top 50) (show all 2728)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 1 32.8 STXBP1 SLC25A22 SCN1A CDKL5
2 glycine encephalopathy 32.8 STXBP1 SLC25A22 PNPO CDKL5
3 developmental and epileptic encephalopathy 9 32.7 STXBP1 SCN1A CDKL5
4 developmental and epileptic encephalopathy 14 32.7 SLC25A22 SCN1A CDKL5
5 developmental and epileptic encephalopathy 2 32.6 STXBP1 SLC25A22 SCN1A CDKL5
6 developmental and epileptic encephalopathy 21 32.6 STXBP1 SCN1A CDKL5
7 developmental and epileptic encephalopathy 87 32.5 STXBP1 CDKL5
8 early infantile epileptic encephalopathy 32.5 STXBP1 SLC25A22 SCN1A PNPO CDKL5
9 dravet syndrome 32.5 STXBP1 SLC25A22 SCN1A PNPO CDKL5
10 lennox-gastaut syndrome 32.3 STXBP1 SLC25A22 SCN1A PNPO CDKL5
11 alcohol-related neurodevelopmental disorder 32.2 STXBP1 CDKL5
12 sulfite oxidase deficiency, isolated 32.2 PNPO ETHE1
13 developmental and epileptic encephalopathy 32.1 STXBP1 SLC25A22 SCN1A PNPO CDKL5
14 early myoclonic encephalopathy 32.1 STXBP1 SLC25A22 SCN1A PNPO CSTB CDKL5
15 west syndrome 32.0 STXBP1 SLC25A22 SCN1A PNPO FH CDKL5
16 ohtahara syndrome 31.9 STXBP1 SLC25A22 SCN1A CDKL5
17 landau-kleffner syndrome 31.6 STXBP1 SCN1A CDKL5
18 aicardi syndrome 31.6 STXBP1 SLC25A22 CDKL5
19 epilepsy, pyridoxine-dependent 31.5 STXBP1 SCN1A PNPO CDKL5
20 epilepsy 31.1 STXBP1 SLC25A22 SERPINI1 SCN1A PRNP CSTB
21 childhood absence epilepsy 30.5 STXBP1 SCN1A PNPO CDKL5
22 benign familial neonatal epilepsy 30.5 STXBP1 SLC25A22 SCN1A PNPO CDKL5
23 benign neonatal seizures 30.4 STXBP1 SLC25A22 SCN1A PNPO CDKL5
24 generalized epilepsy with febrile seizures plus 30.3 STXBP1 SCN1A CDKL5
25 gait apraxia 30.0 PRNP CDKL5
26 photosensitive epilepsy 30.0 STXBP1 SCN1A CDKL5
27 benign familial infantile epilepsy 30.0 STXBP1 SCN1A CDKL5
28 progressive myoclonus epilepsy 30.0 STXBP1 SERPINI1 SCN1A CSTB
29 epilepsy, idiopathic generalized 29.9 STXBP1 SCN1A CDKL5
30 benign epilepsy with centrotemporal spikes 29.9 STXBP1 SCN1A PNPO CSTB CDKL5
31 epilepsy with generalized tonic-clonic seizures 29.9 STXBP1 SCN1A CSTB CDKL5
32 partial motor epilepsy 29.6 STXBP1 SCN1A
33 acyl-coa dehydrogenase, short-chain, deficiency of 29.6 ETHE1 ACADM
34 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 29.4 UNC80 LOC121725110
35 autosomal dominant nocturnal frontal lobe epilepsy 29.3 STXBP1 SCN1A PNPO CSTB CDKL5
36 epilepsy, myoclonic juvenile 28.5 UNC80 STXBP1 SCN1A PPP2R5D PNPO CSTB
37 developmental and epileptic encephalopathy 4 11.7
38 hepatic encephalopathy 11.7
39 encephalopathy, neonatal severe, due to mecp2 mutations 11.6
40 acute necrotizing encephalitis 11.6
41 encephalopathy, ethylmalonic 11.6
42 wernicke encephalopathy 11.6
43 creutzfeldt-jakob disease 11.5
44 developmental and epileptic encephalopathy 13 11.5
45 developmental and epileptic encephalopathy 7 11.5
46 encephalopathy, familial, with neuroserpin inclusion bodies 11.5
47 prion disease 11.5
48 neonatal hypoxic and ischemic brain injury 11.5
49 hypertensive encephalopathy 11.5
50 hashimoto encephalopathy 11.5

Comorbidity relations with Encephalopathy via Phenotypic Disease Network (PDN): (show all 29)


3-Hydroxyacyl-Coa Dehydrogenase Deficiency Active Peptic Ulcer Disease
Acute Cystitis Acute Kidney Failure
Alzheimer Disease, Familial, 1 Bronchitis
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Chronic Kidney Disease
Decubitus Ulcer Deficiency Anemia
Epilepsy, Focal, with Speech Disorder and with or Without Impaired Intellectual Development 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:


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

GenomeRNAi Phenotypes related to Encephalopathy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ACADM ALG1 ATP6V1A CSTB ENO1 ETHE1
2 no effect GR00402-S-2 10.17 ALG1 CDKL5 CSTB ENO1 ETHE1 FH
3 shRNA abundance <= 50% GR00343-S 9.81 ALG1 ATP6V1A CDKL5 ENO1 PPP2R5D RANBP2
4 Reduced mammosphere formation GR00396-S 9.5 FH PPP2R5D RANBP2 SERPINI1 STXBP1 TAB2

MGI Mouse Phenotypes related to Encephalopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ACADM ATP6V1A CDKL5 CSTB ETHE1 PPP2R5D
2 mortality/aging MP:0010768 9.47 ACADM ALG1 ATP6V1A ENO1 ETHE1 FH

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 380)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactulose Approved Phase 4 4618-18-2 11333
2
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
3
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
4
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7, 53152-21-9 644073 40400
7
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
8
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
9
Insulin aspart Approved Phase 4 116094-23-6 16132418
10
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
11
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
12
Valine Approved, Nutraceutical Phase 4 72-18-4 1182 6287
13
Cysteine Approved, Nutraceutical Phase 4 52-90-4 594 5862
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
16
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6 1130
17
Ascorbic acid Approved, Nutraceutical Phase 4 50-81-7 54676860 54670067 5785
18
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
19
Ornithine Approved, Nutraceutical Phase 4 3184-13-2, 70-26-8 6262
20 Cathartics Phase 4
21 Laxatives Phase 4
22 Polyethylene glycol 3350 Phase 4
23 Anticoagulants Phase 4
24 Excitatory Amino Acid Antagonists Phase 4
25 Hypnotics and Sedatives Phase 4
26 GABA Modulators Phase 4
27 Anesthetics Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Adrenergic Agonists Phase 4
30 Sympathomimetics Phase 4
31 Omega 3 Fatty Acid Phase 4
32 Anti-Anxiety Agents Phase 4
33 Psychotropic Drugs Phase 4
34 Anesthetics, Intravenous Phase 4
35 Anesthetics, General Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Buprenorphine, Naloxone Drug Combination Phase 4
38 Retinol palmitate Phase 4
39 Whey Protein Phase 4
40 Folate Phase 4
41 Vitamin B9 Phase 4
42 Trace Elements Phase 4
43 Vitamin B1 Phase 4
44 Vitamin B Complex Phase 4
45 Thiamin Phase 4
46 Micronutrients Phase 4
47 Adrenergic alpha-Antagonists Phase 4
48 Adrenergic alpha-1 Receptor Antagonists Phase 4
49 Soy Bean Phase 4
50 Antiparkinson Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 659)
# Name Status NCT ID Phase Drugs
1 Randomized Trial Comparing The Efficacy of PEG (Polyethylene Glycol) Versus Lactulose For Treatment Of Overt Hepatic Encephalopathy Unknown status NCT03100513 Phase 4 Lactulose;Polyethylene Glycol
2 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
3 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
4 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
5 Therapeutic Efficacy of Oral PEG3350 Plus Lactulose Versus Lactulose Alone in Patients of Acute on Chronic Liver Failure With Overt Hepatic Encephalopathy: A Single Blind Prospective Randomized Controlled Study Unknown status NCT03987893 Phase 4 PEG-3350 with Electolytes;Lactulose
6 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
7 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)
8 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
9 Detection of Silent Atrial Fibrillation aFter Ischemic StrOke (SAFFO) Guided by Implantable Loop Recorder. Multicentre Italian Trial Based on Stroke Unit Network With Paired Cardio-Arrhythmology Units (Italian Neurocardiology Unit Network) Unknown status NCT02684825 Phase 4
10 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
11 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
12 Midodrine and Albumin for Cirrhotic Patients in the Waiting List for Liver Transplantation Completed NCT00839358 Phase 4 albumin;Midodrine;Placebo
13 Septic Encephalopathy and Late Cognitive Dysfunction in Patients With Sepsis - the Role of Inflammation Completed NCT00772096 Phase 4 n-3 fatty acids
14 Efficacy of Combined Oral L-ornithine-L-aspartate and Oral Lactulose in Patients With Hepatic Encephalopathy Completed NCT00740142 Phase 4 L-ornithine-L-aspartate and lactulose;placebo and lactulose
15 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
16 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;Lactulose
17 Rifaximin and Its Microbial Resistance as a Secondary Prophylaxis of Hepatic Encephalopathy in Patients With HCV Related Cirrhosis Completed NCT04736836 Phase 4 Rifaximin
18 Optimum Thiamine Intervention (OpT In) for Treatment and Prevention of Wernicke-Korsakoff Syndrome (WKS): A Randomised Controlled Trial Completed NCT02788552 Phase 4 Thiamine Hydrochloride
19 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
20 Low-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy: A Randomized Open Controlled Study Completed NCT03077217 Phase 4 Rifaximin
21 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
22 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
23 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
24 Effects of the Administration of Albumin in Patients With Cirrhosis and Acute Hepatic Encephalopathy. Completed NCT00886925 Phase 4 Albumin;Sodium chloride 0.9%
25 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
26 Effect of Albumine Infusion in the Prevention of Hepatic Encephalopathy After Transjugular Intrahepatic Portosystemic Shunt Completed NCT01559519 Phase 4 Albumin
27 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
28 The First-day High Dose Vitamin E and Vitamin C in Hypoxic Ischemic Encephalopathy (Following Birth Asphyxia) in Newborns Completed NCT01743742 Phase 4 Vitamin E, Vitamin C
29 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Completed NCT03779672 Phase 4 Memantine Hydrochloride 10 mg
30 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
31 Comparative Study of Dexmedetomidine-midazolam Combination and Propofol-midazolam Combination for MRI Brain in Paediatric Patient Completed NCT02776189 Phase 4 Dexmedetomidine;propofol;Midazolam
32 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
33 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
34 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
35 Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes Recruiting NCT05232630 Phase 4 Fenfluramine
36 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
37 Efficacy of L-Ornithine L-Aspartate (LOLA) as an Adjunct to Branched Chain Amino Acids (BCAA) Enriched Solutions on Clinical Outcomes in ICU Patients With Hepatic Encephalopathy: a Randomized Controlled Trial Recruiting NCT05539027 Phase 4 Branched-chain amino acids (BCAA), enriched solution (Aminoleban) and L-ornithine L-aspartate (LOLA);Branched-chain amino acids (BCAA), enriched solution (Aminoleban)
38 Prevention of Hepatic Encephalopathy by Administration of Rifaximin and Lactulose in Patients With Liver Cirrhosis Undergoing TIPS Placement: a Multi-centre Randomized, Double Blind, Placebo Controlled Trial. Recruiting NCT04073290 Phase 4 Rifaximin 550 milligram Oral Tablet [XIFAXAN];Placebo oral tablet;Lactulose 667 milligram/milliliter Oral Solution
39 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial To Evaluate The Efficacy, Safety, And Pharmacokinetics Of Rifaximin 550 Mg In Subjects With Severe Hepatic Impairment And Overt Hepatic Encephalopathy Recruiting NCT01846663 Phase 4 Placebo;Rifaximin
40 Effect of Polyethylene Glycol Versus Lactulose on Hepatic Encephalopathy in Patients With Liver Cirrhosis; a Randomized Clinical Trial (PEGHE Trial) Recruiting NCT04436601 Phase 4 Polyethylene Glycols;Lactulose
41 Role and Mechanism of Bifidobacterium Triple Viable Capsules in Improving Motor Symptoms in Patients With Mild to Moderate Parkinson's Disease: a Multicenter Randomized Clinical Study Recruiting NCT04871464 Phase 4 Live Combined Bifidobacterium,Lactobacillus and Enterococcus Capsules
42 Quality of Life and Nutritional Improvements in Cirrhotic Patients Following Hepatic Encephalopathy Using Rifaximin. Terminated NCT01842113 Phase 4 Rifaximin;Lactulose;Lactulose Placebo;Rifaximin Placebo
43 Randomized Double Blind Placebo Controlled Trial of Lactulose for the Prevention of Hepatic Encephalopathy in Cirrhotic Patients With Upper Gastrointestinal Hemorrhage Unknown status NCT00553423 Phase 3 Lactulose;Placebo
44 A Multicenter Randomized Controlled Trial of Therapeutic Hypothermia Plus Magnesium Sulphate (MgSO4) Versus Therapeutic Hypothermia Plus Placebo in the Management of Term and Near Term Babies With Hypoxic Ischemic Encephalopathy Unknown status NCT01646619 Phase 3 Magnesium Sulphate;Placebo
45 A Randomized, Double-blind, Controlled Trial Comparing Nitazoxanide Plus Lactulose With Lactulose Alone Treatment of Overt Hepatic Encephalopathy Unknown status NCT02464124 Phase 2, Phase 3 Nitazoxanide;Lactulose
46 Minimal Hepatic Encephalopathy in Pre-hepatic Portal Hypertension Due to Portal Vein Thrombosis in Childhood and Young Adult: epidemiOlogical Study and Pilot Interventional Study. Unknown status NCT01798329 Phase 3
47 Effect of Erythropoietin and Hypothermia on Management of Neonatal Hypoxic Ischemic Encephalopathy Unknown status NCT03163589 Phase 3 Erythropoietin;normal saline
48 Role of Citicoline in Treatment of Newborns With Hypoxic Ischemic Encephalopathy Unknown status NCT03181646 Phase 3 citicoline
49 Transcranial Direct Current Stimulation (tDCS) as a Potential Adjunct Intervention in Stroke Rehabilitation Unknown status NCT01414582 Phase 2, Phase 3
50 A Multi-Center, Open-Label Trial to Evaluate the Long-Term Safety and Tolerability of Rifaximin 550 mg BID in Subjects With a History of Hepatic Encephalopathy Completed NCT00686920 Phase 3 Rifaximin

Search NIH Clinical Center for Encephalopathy

Genetic Tests for Encephalopathy

Genetic tests related to Encephalopathy:

# Genetic test Affiliating Genes
1 Encephalopathy 28

Anatomical Context for Encephalopathy

Organs/tissues related to Encephalopathy:

MalaCards : Brain, Liver, Eye, Bone Marrow, Temporal Lobe, Spinal Cord, Prefrontal Cortex

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 31095)
# Title Authors PMID Year
1
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 53 62
20430833 2010
2
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 53 62
20400524 2010
3
Antituberculosis therapy-induced acute liver failure: magnitude, profile, prognosis, and predictors of outcome. 53 62
20196116 2010
4
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 53 62
20397747 2010
5
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 53 62
19780792 2010
6
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. 53 62
20508364 2010
7
[Epileptic encephalopathy due to partial biotinidase deficiency]. 53 62
20171151 2010
8
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. 53 62
20031247 2010
9
Predictive factors for rebleeding and death in alcoholic cirrhotic patients with acute variceal bleeding: a multivariate analysis. 53 62
19672651 2009
10
Natural course of fulminant hepatic failure: the scenario in Bangladesh and the differences from the west. 53 62
19794267 2009
11
Neuromyelitis optica - an update: 2007-2009. 53 62
20182570 2009
12
De novo mutations in POLG presenting with acute liver failure or encephalopathy. 53 62
19252446 2009
13
Performance of the hepatic encephalopathy scoring algorithm in a clinical trial of patients with cirrhosis and severe hepatic encephalopathy. 53 62
19455117 2009
14
[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. 53 62
20050118 2009
15
Survival predictors in patients treated with a molecular adsorbent recirculating system. 53 62
19554655 2009
16
Loss of function of Sco1 and its interaction with cytochrome c oxidase. 53 62
19295170 2009
17
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. 53 62
18985075 2009
18
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 53 62
19136963 2009
19
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 53 62
19214208 2009
20
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 53 62
19161156 2009
21
[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]. 53 62
19220958 2009
22
Albumin dialysis improves hepatic encephalopathy and decreases circulating phenolic aromatic amino acids in patients with alcoholic hepatitis and severe liver failure. 53 62
19175915 2009
23
Liver function test results and outcomes in children with acute liver failure due to dengue infection. 53 62
19323033 2009
24
Key clinical features to identify girls with CDKL5 mutations. 53 62
18790821 2008
25
Myelin basic protein in cerebrospinal fluid: a predictive marker of delayed encephalopathy from carbon monoxide poisoning. 53 62
18926351 2008
26
Steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) with negative thyroperoxidase antibodies. 53 62
18837747 2008
27
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 53 62
18477000 2008
28
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 53 62
18524658 2008
29
The three stages of epilepsy in patients with CDKL5 mutations. 53 62
18266744 2008
30
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. 53 62
18306170 2008
31
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. 53 62
18414167 2008
32
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 53 62
17993579 2008
33
Prognostic factors in paediatric acute liver failure. 53 62
17872939 2008
34
Encephalopathy after high-dose Ifosfamide: a retrospective cohort study and review of the literature. 53 62
18840018 2008
35
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 53 62
18174559 2007
36
Anti-thyroperoxidase antibodies from patients with Hashimoto's encephalopathy bind to cerebellar astrocytes. 53 62
17963848 2007
37
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 53 62
17698383 2007
38
Validation of ICD-9-CM/ICD-10 coding algorithms for the identification of patients with acetaminophen overdose and hepatotoxicity using administrative data. 53 62
17910762 2007
39
GLUT1 deficiency syndrome--2007 update. 53 62
17718830 2007
40
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 53 62
17668384 2007
41
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. 53 62
17560506 2007
42
Early indicators of prognosis in fulminant hepatic failure: an assessment of the Model for End-Stage Liver Disease (MELD) and King's College Hospital criteria. 53 62
17370333 2007
43
Fulminant liver failure from acute autochthonous hepatitis E in France: description of seven patients with acute hepatitis E and encephalopathy. 53 62
17439518 2007
44
Recurrent myelin basic protein elevation in cerebrospinal fluid as a predictive marker of delayed encephalopathy after carbon monoxide poisoning. 53 62
17499675 2007
45
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 53 62
17403714 2007
46
Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies. 53 62
17392169 2007
47
High prevalence of serum autoantibodies against the amino terminal of alpha-enolase in Hashimoto's encephalopathy. 53 62
17335908 2007
48
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. 53 62
17256798 2007
49
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. 53 62
17216302 2007
50
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery. 53 62
17210820 2007

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

5 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFB1 NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) SNV Pathogenic
488345 rs1555755242 GRCh37: 19:41858622-41858622
GRCh38: 19:41352717-41352717
2 TGFB1 NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) SNV Pathogenic
488346 rs1336387628 GRCh37: 19:41836971-41836971
GRCh38: 19:41331066-41331066
3 TGFB1 NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) SNV Pathogenic
487577 rs1555755308 GRCh37: 19:41858817-41858817
GRCh38: 19:41352912-41352912
4 TAB2 NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) SNV Pathogenic
561124 rs1479104927 GRCh37: 6:149699730-149699730
GRCh38: 6:149378594-149378594
5 ALG1 NM_019109.5(ALG1):c.1187+3A>G SNV Pathogenic
224118 rs369160589 GRCh37: 16:5132677-5132677
GRCh38: 16:5082676-5082676
6 CSTB NM_000100.4(CSTB):c.67-1G>C SNV Pathogenic
8395 rs147484110 GRCh37: 21:45194641-45194641
GRCh38: 21:43774760-43774760
7 ALG1 NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) SNV Pathogenic
4724 rs28939378 GRCh37: 16:5128790-5128790
GRCh38: 16:5078789-5078789
8 ATP6V1A NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro) SNV Likely Pathogenic
1172608 GRCh37: 3:113507633-113507633
GRCh38: 3:113788786-113788786
9 PPP2R5D NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del) DEL Likely Pathogenic
1172649 GRCh37: 6:42975000-42975008
GRCh38: 6:43007262-43007270
10 UNC80 NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) SNV Likely Pathogenic
219189 rs200659479 GRCh37: 2:210678443-210678443
GRCh38: 2:209813719-209813719
11 UNC80 NM_001371986.1(UNC80):c.565G>A (p.Val189Met) SNV Likely Pathogenic
219190 rs864321623 GRCh37: 2:210642248-210642248
GRCh38: 2:209777524-209777524
12 LOC121725110, UNC80 NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) SNV Likely Pathogenic
219188 rs864321622 GRCh37: 2:210737641-210737641
GRCh38: 2:209872917-209872917
13 SPEN NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs) DEL Likely Pathogenic
992611 GRCh37: 1:16258822-16258823
GRCh38: 1:15932327-15932328
14 GRIN2D NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg) SNV Uncertain Significance
983379 rs1365441040 GRCh37: 19:48947144-48947144
GRCh38: 19:48443887-48443887
15 overlap with 4 genes DEL Uncertain Significance
635911 GRCh37: 2:215485042-216474011
GRCh38:
16 MT-ND4 NC_012920.1:m.11815C>G SNV Uncertain Significance
370053 rs879025367 GRCh37: MT:11815-11815
GRCh38: MT:11815-11815
17 MT-ND4 NC_012920.1:m.12013A>G SNV Uncertain Significance
370056 rs1057516067 GRCh37: MT:12013-12013
GRCh38: MT:12013-12013
18 MT-ND4 NC_012920.1:m.12018C>G SNV Uncertain Significance
370057 rs1057516068 GRCh37: MT:12018-12018
GRCh38: MT:12018-12018
19 ADARB1 NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser) SNV Benign
977316 rs1344272743 GRCh37: 21:46641999-46641999
GRCh38: 21:45222084-45222084

Copy number variations for Encephalopathy from CNVD:

6
# CNVD ID Chromosome 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 10.52 STXBP1 SCN1A
2 10.48 STXBP1 SCN1A CDKL5
3 10.23 TGFB1 PRNP

GO Terms for Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.61 UNC80 TGFB1 STXBP1 SCN1A ACADM
2 sodium channel complex GO:0034706 8.62 UNC80 SCN1A

Sources for Encephalopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....