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

Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 53 53 29 54 6 39
Encephalopathies 70
Brain Diseases 70


External Ids:

ICD10 32 G93.4
UMLS 70 C0006111 C0085584

Summaries for Encephalopathy

NINDS : 53 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 stxbp1 encephalopathy and developmental and epileptic encephalopathy 4, 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 is Neuroscience. The drugs Epinephrine and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 73 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

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

(show top 50) (show all 2328)
# Related Disease Score Top Affiliating Genes
1 stxbp1 encephalopathy 32.8 STXBP1 CDKL5
2 developmental and epileptic encephalopathy 4 32.8 STXBP1 CDKL5
3 developmental and epileptic encephalopathy 14 32.7 SCN1A MECP2 CDKL5
4 glycine encephalopathy 32.7 STXBP1 SLC25A22 PCDH19
5 developmental and epileptic encephalopathy 9 32.7 STXBP1 SCN1A PCDH19 CDKL5
6 developmental and epileptic encephalopathy 1 32.6 STXBP1 SLC25A22 SCN1A GNAO1 CDKL5
7 developmental and epileptic encephalopathy 17 32.6 MECP2 GNAO1
8 encephalopathy due to defective mitochondrial and peroxisomal fission 1 32.5 SCN1A MECP2 DNM1L CDKL5
9 dravet syndrome 32.4 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CDKL5
10 febrile infection-related epilepsy syndrome 32.3 SCN1A PCDH19
11 lennox-gastaut syndrome 32.1 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CDKL5
12 epilepsy, focal, with speech disorder and with or without mental retardation 32.1 SPTAN1 FRRS1L
13 mitochondrial dna depletion syndrome 13 32.1 UNC80 SLC13A5
14 early infantile epileptic encephalopathy 31.9 STXBP1 SPTAN1 SLC25A22 SLC13A5 SCN1A PCDH19
15 west syndrome 31.9 STXBP1 SPTAN1 SLC25A22 SCN1A PCDH19 MECP2
16 early myoclonic encephalopathy 31.8 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CSTB
17 pitt-hopkins syndrome 31.8 STXBP1 MECP2 CDKL5
18 developmental and epileptic encephalopathy 31.7 STXBP1 SPTAN1 SLC25A22 SCN1A GNAO1 CDKL5
19 landau-kleffner syndrome 31.6 STXBP1 SCN1A PCDH19 MECP2
20 benign familial neonatal epilepsy 31.6 STXBP1 SCN1A PCDH19 CDKL5
21 ohtahara syndrome 31.5 STXBP1 SPTAN1 SLC25A22 SCN1A GNAO1 CDKL5
22 rett syndrome 31.5 STXBP1 SCN1A MECP2 CDKL5
23 aicardi syndrome 31.4 PCDH19 CDKL5
24 seizure disorder 31.2 STXBP1 SPTAN1 SLC13A5 SCN1A PCDH19 MECP2
25 focal epilepsy 30.8 SPTAN1 SCN1A MECP2 CDKL5
26 choreatic disease 30.5 GNAO1 FRRS1L CSTB
27 dysautonomia 30.4 PRNP FRRS1L
28 generalized epilepsy with febrile seizures plus 30.3 STXBP1 SCN1A PCDH19 CDKL5
29 benign neonatal seizures 30.3 STXBP1 SLC25A22 SCN1A PCDH19 CDKL5
30 benign familial infantile epilepsy 30.3 STXBP1 SCN1A PCDH19 CDKL5
31 epilepsy 30.2 STXBP1 SPTAN1 SLC25A22 SERPINI1 SCN1A PCDH19
32 microcephaly 30.1 UNC80 STXBP1 SCN1A MECP2 GNAO1 DNM1L
33 gait apraxia 30.1 MECP2 CDKL5
34 infantile hypotonia 30.0 UNC80 MECP2
35 epilepsy with generalized tonic-clonic seizures 29.8 SCN1A CSTB CDKL5
36 bruxism 29.8 UNC80 STXBP1 MECP2 CDKL5
37 autosomal dominant nocturnal frontal lobe epilepsy 29.8 STXBP1 SCN1A PCDH19 CSTB
38 pervasive developmental disorder 29.7 SCN1A MECP2 CDKL5
39 progressive myoclonus epilepsy 29.7 SERPINI1 SCN1A CSTB
40 benign epilepsy with centrotemporal spikes 29.5 STXBP1 SPTAN1 SCN1A PCDH19 MECP2 CSTB
41 epilepsy, myoclonic juvenile 29.0 UNC80 STXBP1 SCN1A PCDH19 CSTB CDKL5
42 disease of mental health 28.5 UNC80 TGFB1 STXBP1 SERPINI1 SCN1A PRNP
43 hepatic encephalopathy 11.6
44 encephalopathy, ethylmalonic 11.6
45 wernicke encephalopathy 11.6
46 encephalopathy, familial, with neuroserpin inclusion bodies 11.5
47 developmental and epileptic encephalopathy 12 11.5
48 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.5
49 developmental and epileptic encephalopathy 3 11.5
50 developmental and epileptic encephalopathy 7 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 Bronchitis
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Chronic Kidney 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; back pain; vertigo; dystonia; headache; torticollis; syncope; athetosis; hemiplegia; cogwheel rigidity; pain; agitation; opisthotonus; pseudobulbar signs; chronic pain; sciatica; vertigo/dizziness; sleeplessness; nervousness; cerebellar ataxia; dizziness; hyperexplexia; akathisia; catatonic reaction

MGI Mouse Phenotypes related to Encephalopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 CACNA2D2 CDKL5 CSTB DNM1L ETHE1 FRRS1L
2 growth/size/body region MP:0005378 10.07 CACNA2D2 CSTB DNM1L ETHE1 GNAO1 MECP2
3 immune system MP:0005387 9.9 CACNA2D2 CSTB ETHE1 FRRS1L GNAO1 MECP2
4 nervous system MP:0003631 9.77 CACNA2D2 CDKL5 CSTB DNM1L GNAO1 MECP2
5 skeleton MP:0005390 9.28 CACNA2D2 CSTB DNM1L GNAO1 MECP2 PRNP

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 357)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
Racepinephrine Approved Phase 4 329-65-7 838
Metformin Approved Phase 4 657-24-9 14219 4091
Insulin aspart Approved Phase 4 116094-23-6 16132418
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
Propranolol Approved, Investigational Phase 4 525-66-6 4946
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
Promethazine Approved, Investigational Phase 4 60-87-7 4927
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Valine Approved, Nutraceutical Phase 4 72-18-4 6287
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
23 Hypoglycemic Agents Phase 4
24 Epinephryl borate Phase 4
25 Anesthetics Phase 4
26 Pharmaceutical Solutions Phase 4
27 Neurotransmitter Agents Phase 4
28 Antioxidants Phase 4
29 Vasoconstrictor Agents Phase 4
30 Hypnotics and Sedatives Phase 4
31 Micronutrients Phase 4
32 Trace Elements Phase 4
33 Nutrients Phase 4
34 Vitamin B9 Phase 4
35 Folate Phase 4
36 Vitamin B Complex Phase 4
37 Vitamins Phase 4
38 Retinol palmitate Phase 4
39 retinol Phase 4
40 Adrenergic alpha-Agonists Phase 4
41 Adrenergic Agonists Phase 4
42 Adrenergic Agents Phase 4
43 Analgesics Phase 4
44 Hormones Phase 4
45 calcium channel blockers Phase 4
46 Narcotics Phase 4
47 Analgesics, Opioid Phase 4
48 Soy Bean Phase 4
49 Antihypertensive Agents Phase 4
50 Omega 3 Fatty Acid Phase 4

Interventional clinical trials:

(show top 50) (show all 583)
# Name Status NCT ID Phase Drugs
1 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Unknown status NCT02951559 Phase 4
2 Low-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy: A Randomized Open Controlled Study Unknown status NCT03077217 Phase 4 Rifaximin
3 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
4 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)
5 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
6 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
7 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
8 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
9 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
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 Albumine Infusion in the Prevention of Hepatic Encephalopathy After Transjugular Intrahepatic Portosystemic Shunt Completed NCT01559519 Phase 4 Albumin
12 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
13 Effects of the Administration of Albumin in Patients With Cirrhosis and Acute Hepatic Encephalopathy. Completed NCT00886925 Phase 4 Albumin;Sodium chloride 0.9%
14 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
15 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
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 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
18 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
19 Rifaximin and Its Microbial Resistance as a Secondary Prophylaxis of Hepatic Encephalopathy in Patients With HCV Related Cirrhosis Completed NCT04736836 Phase 4 Rifaximin
20 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
21 Septic Encephalopathy and Late Cognitive Dysfunction in Patients With Sepsis - the Role of Inflammation Completed NCT00772096 Phase 4 n-3 fatty acids
22 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
23 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
24 Midodrine and Albumin for Cirrhotic Patients in the Waiting List for Liver Transplantation Completed NCT00839358 Phase 4 albumin;Midodrine;Placebo
25 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
26 Comparative Study of Dexmedetomidine-midazolam Combination and Propofol-midazolam Combination for MRI Brain in Paediatric Patient Completed NCT02776189 Phase 4 Dexmedetomidine;propofol;Midazolam
27 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
28 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
29 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
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 Optimum Thiamine Intervention (OpT In) for Treatment and Prevention of Wernicke-Korsakoff Syndrome (WKS): A Randomised Controlled Trial Completed NCT02788552 Phase 4 Thiamine Hydrochloride
32 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
33 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg
34 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
35 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
36 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 Recruiting NCT03987893 Phase 4 PEG-3350 with Electolytes;Lactulose
37 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
38 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) Recruiting NCT02684825 Phase 4
39 Quality of Life and Nutritional Improvements in Cirrhotic Patients Following Hepatic Encephalopathy Using Rifaximin. Terminated NCT01842113 Phase 4 Rifaximin;Lactulose;Lactulose Placebo;Rifaximin Placebo
40 Impact of Rifaximin on Liver Fibrosis in HIV-Infected Patients With Liver Disease Withdrawn NCT01654939 Phase 4 Rifaximin
41 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
42 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
43 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
44 Phase III Study of Efficacy of High Dose Erythropoietin to Prevent Hypoxic-ischemic Encephalopathy Sequelae in Term Newborn Unknown status NCT01732146 Phase 3 erythropoietin Beta;Placebo
45 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
46 Prospective, Randomized, Double-blind, Cohort Study of Hydrocortisone vs Placebo in Systemic Low Blood Pressure During Hypothermia Treatment in Asphyxiated Newborns Unknown status NCT02700828 Phase 2, Phase 3 Hydrocortisone;Placebo
47 Effect of ALlopurinol in Addition to Hypothermia for Hypoxic-ischemic Brain Injury on Neurocognitive Outcome - a Blinded Randomized Placebo-controlled Parallel Group Multicenter Trial for Superiority (Phase III) Unknown status NCT03162653 Phase 3 Allopurinol;Mannitol
48 Effect of Erythropoietin and Hypothermia on Management of Neonatal Hypoxic Ischemic Encephalopathy Unknown status NCT03163589 Phase 3 Erythropoietin;normal saline
49 Role of Citicoline in Treatment of Newborns With Hypoxic Ischemic Encephalopathy Unknown status NCT03181646 Phase 3 citicoline
50 B-lymphocyte Depletion Using the Monoclonal Anti-CD20 Antibody Rituximab in Chronic Fatigue Syndrome/ Myalgic Encephalopathy (CFS/ME). A Multicentre, Randomized, Double-blind and Placebo Controlled Phase-III Study With Rituximab Induction and Maintenance Treatment. Unknown status NCT02229942 Phase 3 Rituximab;Placebo

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:

Liver, Brain, Cortex, Eye, Heart, Spinal Cord, Bone Marrow

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 34677)
# Title Authors PMID Year
Deregulated sphingolipid metabolism and membrane organization in neurodegenerative disorders. 54 61
20127207 2010
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 61 54
20400524 2010
Antituberculosis therapy-induced acute liver failure: magnitude, profile, prognosis, and predictors of outcome. 61 54
20196116 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 54 61
20397747 2010
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 54 61
19780792 2010
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. 54 61
20508364 2010
[Epileptic encephalopathy due to partial biotinidase deficiency]. 61 54
20171151 2010
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. 61 54
20031247 2010
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 54 61
19589774 2010
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 54 61
19782004 2009
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 54 61
19793311 2009
Predictive factors for rebleeding and death in alcoholic cirrhotic patients with acute variceal bleeding: a multivariate analysis. 54 61
19672651 2009
Natural course of fulminant hepatic failure: the scenario in Bangladesh and the differences from the west. 61 54
19794267 2009
De novo mutations in POLG presenting with acute liver failure or encephalopathy. 54 61
19252446 2009
Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response. 54 61
19423713 2009
[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. 54 61
20050118 2009
Performance of the hepatic encephalopathy scoring algorithm in a clinical trial of patients with cirrhosis and severe hepatic encephalopathy. 61 54
19455117 2009
Survival predictors in patients treated with a molecular adsorbent recirculating system. 54 61
19554655 2009
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. 61 54
18985075 2009
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 61 54
19161156 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 54 61
19214208 2009
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 54 61
19136963 2009
[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]. 54 61
19220958 2009
Liver function test results and outcomes in children with acute liver failure due to dengue infection. 54 61
19323033 2009
Albumin dialysis improves hepatic encephalopathy and decreases circulating phenolic aromatic amino acids in patients with alcoholic hepatitis and severe liver failure. 61 54
19175915 2009
Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice. 61 54
18940798 2008
Key clinical features to identify girls with CDKL5 mutations. 61 54
18790821 2008
Myelin basic protein in cerebrospinal fluid: a predictive marker of delayed encephalopathy from carbon monoxide poisoning. 61 54
18926351 2008
Steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) with negative thyroperoxidase antibodies. 54 61
18837747 2008
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 61 54
18477000 2008
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 54 61
18524658 2008
The three stages of epilepsy in patients with CDKL5 mutations. 54 61
18266744 2008
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. 61 54
18387950 2008
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. 61 54
18306170 2008
Differential metabolic consequences of fumarate hydratase and respiratory chain defects. 61 54
18313410 2008
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. 54 61
18414167 2008
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. 61 54
18396045 2008
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 54 61
17993579 2008
Encephalopathy after high-dose Ifosfamide: a retrospective cohort study and review of the literature. 54 61
18840018 2008
Prognostic factors in paediatric acute liver failure. 61 54
17872939 2008
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 61 54
18174559 2007
Anti-thyroperoxidase antibodies from patients with Hashimoto's encephalopathy bind to cerebellar astrocytes. 61 54
17963848 2007
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 54 61
17698383 2007
Validation of ICD-9-CM/ICD-10 coding algorithms for the identification of patients with acetaminophen overdose and hepatotoxicity using administrative data. 61 54
17910762 2007
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 54 61
17668384 2007
Neuropathology of mitochondrial diseases. 61 54
17541738 2007
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. 54 61
17560506 2007
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. 61 54
17370333 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 61 54
17403714 2007
Recurrent myelin basic protein elevation in cerebrospinal fluid as a predictive marker of delayed encephalopathy after carbon monoxide poisoning. 54 61
17499675 2007

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

6 (show all 13)
# 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 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 GRCh37: 21:45194641-45194641
GRCh38: 21:43774760-43774760
5 UNC80 NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) SNV Likely pathogenic 219189 rs200659479 GRCh37: 2:210678443-210678443
GRCh38: 2:209813719-209813719
6 UNC80 NM_032504.1(UNC80):c.565G>A (p.Val189Met) SNV Likely pathogenic 219190 rs864321623 GRCh37: 2:210642248-210642248
GRCh38: 2:209777524-209777524
7 UNC80 NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) SNV Likely pathogenic 219188 rs864321622 GRCh37: 2:210737641-210737641
GRCh38: 2:209872917-209872917
8 MT-ND4 NC_012920.1:m.12013A>G SNV Uncertain significance 370056 rs1057516067 GRCh37: MT:12013-12013
GRCh38: MT:12013-12013
9 MT-ND4 NC_012920.1:m.12018C>G SNV Uncertain significance 370057 rs1057516068 GRCh37: MT:12018-12018
GRCh38: MT:12018-12018
10 GRIN2D NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg) SNV Uncertain significance 983379 GRCh37: 19:48947144-48947144
GRCh38: 19:48443887-48443887
11 overlap with 4 genes Deletion Uncertain significance 635911 GRCh37: 2:215485042-216474011
12 MT-ND4 NC_012920.1:m.11815C>G SNV Uncertain significance 370053 rs879025367 GRCh37: MT:11815-11815
GRCh38: MT:11815-11815
13 ADARB1 NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser) SNV Benign 977316 GRCh37: 21:46641999-46641999
GRCh38: 21:45222084-45222084

Copy number variations for Encephalopathy from CNVD:

# 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

GO Terms for Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 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 N-terminus binding GO:0047485 9.13 TGFB1 STXBP1 MECP2
2 protein-containing complex binding GO:0044877 9.02 TGFB1 RANBP2 PRNP GNAO1 DNM1L

Sources for Encephalopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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