MCID: ENC018
MIFTS: 62

Encephalopathy

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

Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 53 53 29 54 6 39
Encephalopathies 71
Brain Diseases 71

Classifications:



External Ids:

ICD10 32 G93.4
UMLS 71 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 Racepinephrine 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 : 74 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 2254)
# Related Disease Score Top Affiliating Genes
1 stxbp1 encephalopathy 32.8 STXBP1 CDKL5
2 developmental and epileptic encephalopathy 4 32.8 STXBP1 SLC25A22 CDKL5
3 developmental and epileptic encephalopathy 14 32.7 SCN1A MECP2 CDKL5
4 developmental and epileptic encephalopathy 9 32.7 STXBP1 SCN1A PCDH19 CDKL5
5 glycine encephalopathy 32.6 STXBP1 SLC25A22 PCDH19
6 developmental and epileptic encephalopathy 17 32.6 MECP2 GNAO1
7 encephalopathy due to defective mitochondrial and peroxisomal fission 1 32.5 SCN1A MECP2 DNM1L CDKL5
8 dravet syndrome 32.4 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CDKL5
9 developmental and epileptic encephalopathy 1 32.4 STXBP1 SPTAN1 SLC25A22 SCN1A GNAO1 CDKL5
10 febrile infection-related epilepsy syndrome 32.3 SCN1A PCDH19
11 lennox-gastaut syndrome 32.2 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CDKL5
12 mitochondrial dna depletion syndrome 13 32.1 UNC80 SLC13A5
13 epilepsy, focal, with speech disorder and with or without mental retardation 32.1 SPTAN1 FRRS1L
14 early infantile epileptic encephalopathy 31.9 STXBP1 SPTAN1 SLC25A22 SLC13A5 SCN1A PCDH19
15 early myoclonic encephalopathy 31.9 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CSTB
16 west syndrome 31.8 STXBP1 SPTAN1 SLC25A22 SCN1A PCDH19 MECP2
17 pitt-hopkins syndrome 31.8 STXBP1 MECP2 CDKL5
18 developmental and epileptic encephalopathy 31.6 STXBP1 SPTAN1 SLC25A22 SCN1A GNAO1 CDKL5
19 landau-kleffner syndrome 31.6 STXBP1 SCN1A PCDH19 MECP2
20 benign familial neonatal epilepsy 31.5 STXBP1 SCN1A PCDH19 CDKL5
21 rett syndrome 31.5 STXBP1 SCN1A MECP2 CDKL5
22 ohtahara syndrome 31.5 STXBP1 SPTAN1 SLC25A22 SCN1A GNAO1 CDKL5
23 aicardi syndrome 31.5 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 30.4 GNAO1 FRRS1L CSTB
27 dysautonomia 30.4 PRNP FRRS1L
28 benign neonatal seizures 30.3 STXBP1 SLC25A22 SCN1A PCDH19 CDKL5
29 epilepsy 30.2 STXBP1 SPTAN1 SLC25A22 SERPINI1 SCN1A PCDH19
30 generalized epilepsy with febrile seizures plus 30.2 STXBP1 SCN1A PCDH19 CDKL5
31 microcephaly 30.1 UNC80 STXBP1 SCN1A MECP2 GNAO1 DNM1L
32 gait apraxia 30.1 MECP2 CDKL5
33 infantile hypotonia 30.0 UNC80 MECP2
34 bruxism 29.8 UNC80 STXBP1 MECP2 CDKL5
35 epilepsy with generalized tonic-clonic seizures 29.8 SCN1A CSTB CDKL5
36 pervasive developmental disorder 29.7 SCN1A MECP2 CDKL5
37 benign epilepsy with centrotemporal spikes 29.4 STXBP1 SPTAN1 SCN1A PCDH19 MECP2 CSTB
38 autosomal dominant nocturnal frontal lobe epilepsy 29.3 STXBP1 SCN1A PCDH19 CSTB
39 electroclinical syndrome 29.3 STXBP1 SLC25A22 SCN1A PCDH19 MECP2 CSTB
40 epilepsy, myoclonic juvenile 29.0 UNC80 STXBP1 SCN1A PCDH19 CSTB CDKL5
41 hepatic encephalopathy 11.6
42 encephalopathy, ethylmalonic 11.6
43 wernicke encephalopathy 11.6
44 encephalopathy, familial, with neuroserpin inclusion bodies 11.5
45 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.5
46 developmental and epileptic encephalopathy 12 11.5
47 creutzfeldt-jakob disease 11.5
48 developmental and epileptic encephalopathy 3 11.5
49 developmental and epileptic encephalopathy 7 11.4
50 encephalopathy, neonatal severe, due to mecp2 mutations 11.4

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, 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:

46
# 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 351)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Metformin Approved Phase 4 657-24-9 14219 4091
5
Insulin aspart Approved Phase 4 116094-23-6 16132418
6
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
7
Propranolol Approved, Investigational Phase 4 525-66-6 4946
8
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
9
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
10
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
11
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
12
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
13
Promethazine Approved, Investigational Phase 4 60-87-7 4927
14
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
15
Memantine Approved, Investigational Phase 4 19982-08-2 4054
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
17
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
18
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
19
Valine Approved, Nutraceutical Phase 4 72-18-4 6287
20
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
21
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
22
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 Antioxidants Phase 4
27 Pharmaceutical Solutions Phase 4
28 Neurotransmitter Agents Phase 4
29 Vasoconstrictor Agents Phase 4
30 Nutrients Phase 4
31 Micronutrients Phase 4
32 Trace Elements Phase 4
33 Vitamins Phase 4
34 Vitamin B Complex Phase 4
35 Folate Phase 4
36 Vitamin B9 Phase 4
37 retinol Phase 4
38 Retinol palmitate Phase 4
39 Hypnotics and Sedatives Phase 4
40 Adrenergic alpha-Agonists Phase 4
41 Adrenergic Agents Phase 4
42 Analgesics Phase 4
43 Adrenergic Agonists Phase 4
44 Antihypertensive Agents Phase 4
45 Hormones Phase 4
46 calcium channel blockers Phase 4
47 Soy Bean Phase 4
48 Whey Protein Phase 4
49 Sympathomimetics Phase 4
50 Antiemetics Phase 4

Interventional clinical trials:

(show top 50) (show all 569)
# 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 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 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
5 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
6 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
7 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
8 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
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 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
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 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
14 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
15 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
16 Effect of Albumine Infusion in the Prevention of Hepatic Encephalopathy After Transjugular Intrahepatic Portosystemic Shunt Completed NCT01559519 Phase 4 Albumin
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 Effects of the Administration of Albumin in Patients With Cirrhosis and Acute Hepatic Encephalopathy. Completed NCT00886925 Phase 4 Albumin;Sodium chloride 0.9%
19 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
20 Septic Encephalopathy and Late Cognitive Dysfunction in Patients With Sepsis - the Role of Inflammation Completed NCT00772096 Phase 4 n-3 fatty acids
21 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
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, 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
28 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
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 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
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 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
35 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
36 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
37 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
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 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
42 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
43 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
44 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
45 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
46 Role of Citicoline in Treatment of Newborns With Hypoxic Ischemic Encephalopathy Unknown status NCT03181646 Phase 3 citicoline
47 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
48 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
49 Effect of Erythropoietin and Hypothermia on Management of Neonatal Hypoxic Ischemic Encephalopathy Unknown status NCT03163589 Phase 3 Erythropoietin;normal saline
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:

40
Liver, Brain, Cortex, Eye, Spinal Cord, Endothelial, Bone Marrow

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 34629)
# Title Authors PMID Year
1
Deregulated sphingolipid metabolism and membrane organization in neurodegenerative disorders. 54 61
20127207 2010
2
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 61 54
20400524 2010
3
Antituberculosis therapy-induced acute liver failure: magnitude, profile, prognosis, and predictors of outcome. 54 61
20196116 2010
4
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. 54 61
20397747 2010
5
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 61 54
19780792 2010
6
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. 61 54
20508364 2010
7
[Epileptic encephalopathy due to partial biotinidase deficiency]. 54 61
20171151 2010
8
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. 61 54
20031247 2010
9
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 54 61
19589774 2010
10
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 54 61
19782004 2009
11
Predictive factors for rebleeding and death in alcoholic cirrhotic patients with acute variceal bleeding: a multivariate analysis. 61 54
19672651 2009
12
Natural course of fulminant hepatic failure: the scenario in Bangladesh and the differences from the west. 54 61
19794267 2009
13
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
14
De novo mutations in POLG presenting with acute liver failure or encephalopathy. 54 61
19252446 2009
15
Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response. 54 61
19423713 2009
16
Performance of the hepatic encephalopathy scoring algorithm in a clinical trial of patients with cirrhosis and severe hepatic encephalopathy. 54 61
19455117 2009
17
Survival predictors in patients treated with a molecular adsorbent recirculating system. 54 61
19554655 2009
18
[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency]. 61 54
20050118 2009
19
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
20
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 61 54
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]. 61 54
19220958 2009
22
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 61 54
19214208 2009
23
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 61 54
19136963 2009
24
Liver function test results and outcomes in children with acute liver failure due to dengue infection. 61 54
19323033 2009
25
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
26
Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice. 61 54
18940798 2008
27
Myelin basic protein in cerebrospinal fluid: a predictive marker of delayed encephalopathy from carbon monoxide poisoning. 61 54
18926351 2008
28
Key clinical features to identify girls with CDKL5 mutations. 61 54
18790821 2008
29
Steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) with negative thyroperoxidase antibodies. 61 54
18837747 2008
30
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 61 54
18477000 2008
31
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. 54 61
18524658 2008
32
The three stages of epilepsy in patients with CDKL5 mutations. 61 54
18266744 2008
33
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. 61 54
18387950 2008
34
Differential metabolic consequences of fumarate hydratase and respiratory chain defects. 54 61
18313410 2008
35
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. 54 61
18306170 2008
36
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. 54 61
18414167 2008
37
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. 61 54
18396045 2008
38
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 54 61
17993579 2008
39
Prognostic factors in paediatric acute liver failure. 54 61
17872939 2008
40
Encephalopathy after high-dose Ifosfamide: a retrospective cohort study and review of the literature. 61 54
18840018 2008
41
Anti-thyroperoxidase antibodies from patients with Hashimoto's encephalopathy bind to cerebellar astrocytes. 54 61
17963848 2007
42
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 54 61
18174559 2007
43
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 54 61
17698383 2007
44
Validation of ICD-9-CM/ICD-10 coding algorithms for the identification of patients with acetaminophen overdose and hepatotoxicity using administrative data. 54 61
17910762 2007
45
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 61 54
17668384 2007
46
Neuropathology of mitochondrial diseases. 54 61
17541738 2007
47
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. 61 54
17560506 2007
48
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. 54 61
17370333 2007
49
Fulminant liver failure from acute autochthonous hepatitis E in France: description of seven patients with acute hepatitis E and encephalopathy. 61 54
17439518 2007
50
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 GRCh37 Pos GRCh38 Pos
1 TGFB1 NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) SNV Pathogenic 488345 rs1555755242 19:41858622-41858622 19:41352717-41352717
2 TGFB1 NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) SNV Pathogenic 488346 rs1336387628 19:41836971-41836971 19:41331066-41331066
3 TGFB1 NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) SNV Pathogenic 487577 rs1555755308 19:41858817-41858817 19:41352912-41352912
4 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
5 UNC80 NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) SNV Likely pathogenic 219189 rs200659479 2:210678443-210678443 2:209813719-209813719
6 UNC80 NM_032504.1(UNC80):c.565G>A (p.Val189Met) SNV Likely pathogenic 219190 rs864321623 2:210642248-210642248 2:209777524-209777524
7 UNC80 NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) SNV Likely pathogenic 219188 rs864321622 2:210737641-210737641 2:209872917-209872917
8 MT-ND4 NC_012920.1:m.12013A>G SNV Uncertain significance 370056 rs1057516067 MT:12013-12013 MT:12013-12013
9 MT-ND4 NC_012920.1:m.12018C>G SNV Uncertain significance 370057 rs1057516068 MT:12018-12018 MT:12018-12018
10 GRIN2D NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg) SNV Uncertain significance 983379 19:48947144-48947144 19:48443887-48443887
11 ATIC Deletion Uncertain significance 635911 2:215485042-216474011
12 MT-ND4 NC_012920.1:m.11815C>G SNV Uncertain significance 370053 rs879025367 MT:11815-11815 MT:11815-11815
13 ADARB1 NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser) SNV Benign 977316 21:46641999-46641999 21:45222084-45222084

Copy number variations for Encephalopathy from CNVD:

7
# 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 11.56 STXBP1 SCN1A PRNP MECP2 GNAO1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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