Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 51 51 29 52
Encephalopathies 69
Brain Diseases 69

Classifications:



Summaries for Encephalopathy

NINDS : 51 Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, AGS2 is caused by a mutation in the RNASEH2B gene, AGS3 is caused by a mutation in the RNASEH2C gene, AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).

MalaCards based summary : Encephalopathy, also known as encephalopathies, is related to epileptic encephalopathy, early infantile, 15 and spinocerebellar degeneration, and has symptoms including ataxia, athetosis and back pain. An important gene associated with Encephalopathy is ETHE1 (ETHE1, Persulfide Dioxygenase), and among its related pathways/superpathways is Neuroscience. The drugs Lactulose and Metformin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotype is behavior/neurological.

Wikipedia : 72 Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease of the brain. In modern usage, encephalopathy... more...

Related Diseases for Encephalopathy

Diseases in the Encephalopathy family:

Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2

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

(show top 50) (show all 801)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 31.8 CDKL5 GNAO1 PCDH19 PNPO SCN1A SLC25A22
2 spinocerebellar degeneration 28.5 CDKL5 MECP2 PNPO SCN1A
3 ethylmalonic encephalopathy 12.1
4 glycine encephalopathy 12.1
5 hypertensive encephalopathy 12.1
6 toxic encephalopathy 12.1
7 hepatic encephalopathy 12.1
8 stxbp1 encephalopathy with epilepsy 12.1
9 mitochondrial neurogastrointestinal encephalopathy disease 12.0
10 chd2 myoclonic encephalopathy 12.0
11 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.0
12 encephalopathy, familial, with neuroserpin inclusion bodies 12.0
13 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 12.0
14 scn8a-related epilepsy with encephalopathy 12.0
15 early myoclonic encephalopathy 11.9
16 wernicke encephalopathy 11.9
17 acute necrotizing encephalopathy 11.9
18 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.9
19 mecp2-related severe neonatal encephalopathy 11.9
20 epileptic encephalopathy, early infantile, 1 11.9
21 epileptic encephalopathy, early infantile, 9 11.9
22 encephalopathy, neonatal severe 11.9
23 epileptic encephalopathy, early infantile, 12 11.9
24 encephalopathy, acute, infection-induced, 4 11.9
25 epileptic encephalopathy, early infantile, 3 11.9
26 epileptic encephalopathy, early infantile, 26 11.9
27 acute necrotizing encephalopathy type 1 11.9
28 epileptic encephalopathy, childhood-onset 11.9
29 scn8a encephalopathy 11.9
30 glycine encephalopathy with normal serum glycine 11.9
31 epileptic encephalopathy, early infantile, 27 11.9
32 epileptic encephalopathy, early infantile, 29 11.9
33 epileptic encephalopathy, early infantile, 6 11.9
34 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.9
35 epileptic encephalopathy, early infantile, 25 11.9
36 epileptic encephalopathy, early infantile, 2 11.9
37 epileptic encephalopathy, early infantile, 8 11.9
38 hemorrhagic shock and encephalopathy syndrome 11.8
39 epileptic encephalopathy, early infantile, 7 11.8
40 epileptic encephalopathy, early infantile, 32 11.8
41 epileptic encephalopathy, early infantile, 31 11.8
42 encephalopathy, progressive, with or without lipodystrophy 11.8
43 epileptic encephalopathy, early infantile, 28 11.8
44 epileptic encephalopathy, early infantile, 35 11.8
45 epileptic encephalopathy, early infantile, 34 11.8
46 epileptic encephalopathy, early infantile, 33 11.8
47 epileptic encephalopathy, early infantile, 30 11.8
48 epileptic encephalopathy, early infantile, 36 11.8
49 epileptic encephalopathy, early infantile, 23 11.8
50 epileptic encephalopathy, early infantile, 11 11.8

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


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

Graphical network of the top 20 diseases related to Encephalopathy:



Diseases related to Encephalopathy

Symptoms & Phenotypes for Encephalopathy

UMLS symptoms related to Encephalopathy:


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

MGI Mouse Phenotypes related to Encephalopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 CDKL5 DNM1L ETHE1 GNAO1 MECP2 PRNP

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 434)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactulose Approved Phase 4,Phase 3,Phase 2,Phase 1 4618-18-2 11333
2
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
3
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Rifaximin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 80621-81-4 6436173
6
Magnesium oxide Approved Phase 4 1309-48-4 14792
7
Dopamine Approved Phase 4,Phase 1 51-61-6, 62-31-7 681
8
Levodopa Approved Phase 4 59-92-7 6047
9
Propranolol Approved, Investigational Phase 4,Phase 3 525-66-6 4946
10
Norfloxacin Approved Phase 4,Phase 2,Phase 3 70458-96-7 4539
11
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
13
Insulin Aspart Approved Phase 4 116094-23-6 16132418
14
Midodrine Approved Phase 4,Phase 2,Phase 3 133163-28-7, 42794-76-3 4195
15
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
16
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
17
Entecavir Approved, Investigational Phase 4,Phase 2 142217-69-4 153941
18
Lamivudine Approved, Investigational Phase 4,Phase 2 134678-17-4 60825
19
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
20
Acetylcysteine Approved, Investigational Phase 4,Phase 3,Phase 2 616-91-1 12035
21
Cysteamine Approved, Investigational Phase 4,Phase 2 60-23-1 6058
22
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
23
Diphenhydramine Approved Phase 4,Phase 3,Phase 1 58-73-1, 147-24-0 3100
24
Histamine Approved, Investigational Phase 4,Phase 3 75614-87-8, 51-45-6 774
25
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
26
Promethazine Approved Phase 4,Phase 3,Phase 1 60-87-7 4927
27
Tolvaptan Approved Phase 4,Phase 3,Phase 2 150683-30-0 216237
28
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3 51-43-4 5816
29
Formaldehyde Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-00-0 712
30 Racepinephrine Approved Phase 4,Phase 2,Phase 3
31
Prazosin Approved Phase 4 19216-56-9 4893
32
Tranexamic Acid Approved Phase 4 1197-18-8 5526
33
Ornithine Approved, Nutraceutical Phase 4,Phase 3,Phase 2 70-26-8, 3184-13-2 6262 389
34
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2,Early Phase 1 73-31-4 896
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
36
Thiamine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-43-8 1130
37 Tocopherol Approved, Nutraceutical Phase 4,Phase 2
38
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
39
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-02-9 14985
40
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
41 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Hypoglycemic Agents Phase 4,Phase 3
43 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
44 Excitatory Amino Acid Agonists Phase 4,Phase 3,Phase 2
45 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
46 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 N-Methylaspartate Phase 4,Phase 3,Phase 2,Phase 1
48 Adjuvants, Anesthesia Phase 4
49 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
50 Anesthetics, General Phase 4,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 514)

id Name Status NCT ID Phase Drugs
1 Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis Unknown status NCT01175538 Phase 4 Lactulose;Lactulose
2 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
3 Metformin Experience on Minimal Hepatic Encephalopathy Unknown status NCT02470546 Phase 4 Metformin;Placebo
4 Efficacy of Combined Oral L-Ornithine-L-Aspartate and Lactulose in Patients With Hepatic Encephalopathy Unknown status NCT00740142 Phase 4 L-ornithine-L-aspartate and lactulose;placebo and lactulose
5 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Minimal Encephalopathy Unknown status NCT00896831 Phase 4 L-ornithine-L-aspartate;placebo
6 Trial Comparing Sedation for Endoscopy With Propofol Versus Midazolam in Cirrhotics Unknown status NCT01356121 Phase 4 Propofol;Midazolam
7 Rifaximin Versus Lactulose in Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
8 Magnesium in Liver Cirrhosis Unknown status NCT01894867 Phase 4
9 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
10 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
11 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
12 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4 herbal drug;placebo
13 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
14 Efficacy of Albumin for Acute Encephalopathy in Patients With Cirrhosis Completed NCT00886925 Phase 4 Albumin;Sodium chloride 0.9%
15 Lactulose, L-ornithine L-aspartate, or Rifaximin Versus Placebo for Preventing Hepatic Encephalopathy in Variceal Bleeding Completed NCT02158182 Phase 4 Lactulose;L-ornithine L-aspartate;Rifaximin;Placebo
16 Effects of Proteins in Patients With Cirrhosis and Prior Hepatic Encephalopathy Completed NCT00955500 Phase 4
17 Efficacy of L-Ornithine L-Aspartate in Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4 L-ornithine-L-aspartate;Lactose
18 Post Transjugular Intrahepatic Portosystemic Shunt (Tips) Albumine Infusion to Prevent Hepatic Encephalopathy Completed NCT01559519 Phase 4 Albumin
19 Effect of Lactulose on Minimal Hepatic Encephalopathy and Health-Related Quality of Life Completed NCT00375375 Phase 4 Lactulose
20 Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate Completed NCT01847651 Phase 4 LOLA or placebo
21 L-ornithine L-aspartate in Overt Hepatic Encephalopathy Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
22 The Safety/Efficacy Of Rifaximin With/Without Lactulose In Subjects With A History Of Recurrent Hepatic Encephalopathy Completed NCT01842581 Phase 4 Rifaximin;Rifaximin and Lactulose
23 Randomised Controlled Trial of Mechanistic Effects of Rifaximin in Cirrhosis and Chronic Hepatic Encephalopathy Completed NCT02019784 Phase 4 Rifaximin-α;Placebo Oral Tablet
24 Septic Encephalopathy and Late Cognitive Dysfunction Completed NCT00772096 Phase 4 n-3 fatty acids
25 Branched Chain Aminoacid Supplementation in Patients With Liver Cirrhosis Completed NCT02023229 Phase 4
26 Single High Dose Vitamin C, E in Severe Birth Asphyxia Completed NCT01743742 Phase 4 Vitamin E, Vitamin C
27 Effect of Midodrine and Albumine in the Prevention of Complications in Cirrhotic Patients Awaiting Liver Transplantation Completed NCT00839358 Phase 4 albumin;Midodrine;Placebo
28 Study on B-blockers to Prevent Decompensation of Cirrhosis With HTPortal Completed NCT01059396 Phase 4 propranolol;carvedilol;placebo
29 Band Ligation Versus Transjugular Intrahepatic Portosystemic Stent Shunt (TIPS) in Cirrhotics With Recurrent Variceal Bleeding Non Responding to Medical Therapy Completed NCT00570973 Phase 4
30 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
31 Entecavir Intensification for Persistent HBV Viremia in HIV-HBV Infection Completed NCT00662545 Phase 4 Entecavir with continued standard of care antiretroviral therapy;continued standard of care with tenofovir in addition to emtricitabine or lamivudine
32 Norfloxacin Versus Ciprofloxacin for Spontaneous Bacterial Peritonitis (SBP) Prevention Completed NCT01542801 Phase 4 Norfloxacin;ciprofloxacin
33 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
34 Effects on Plasma Exchange on Functional Capacity of Serum Albumin, Circulatory Dysfunction, Renal and Cerebral Function in Cirrhotic Patients With "Acute-on-chronic Liver Failure" Completed NCT01201720 Phase 4
35 Single Dose Pharmacokinetics of Suboxone Study in Hepatic Impaired Subjects Completed NCT01846455 Phase 4 2.0mg Buprenorphine/0.5mg Naloxone;Promethazine
36 Efficacy, Safety, And Pharmacokinetics Of Rifaximin In Subjects With Severe Hepatic Impairment And Hepatic Encephalopathy Recruiting NCT01846663 Phase 4 Placebo;Rifaximin
37 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Recruiting NCT02401490 Phase 4 Human albumin;Placebo
38 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
39 PEG (Polyethylene Glycol)Versus Lactulose For Treatment Of Overt Hepatic Encephalopathy Recruiting NCT03100513 Phase 4 Lactulose;Polyethylene Glycol
40 Early Precise Diagnosis and Intervention of CPT Based on a Noninvasive 3D-vHPS Recruiting NCT02925975 Phase 4 Carvedilol
41 Steroids in Fulminant Hepatic Failure in the Pediatric Age Group Recruiting NCT02375867 Phase 4 prednisolone;methylprednisolone
42 Effect of Entecavir Treatment on Regression and Disease Outcome in HBV-induced Liver Fibrosis and Cirrhosis Patients Recruiting NCT02849132 Phase 4 Entecavir
43 Prazosin and CSF Biomarkers in mTBI Recruiting NCT03221751 Phase 4 prazosin hydrochloride;placebo
44 Ramelteon for Treatment of Insomnia in Cirrhosis Recruiting NCT03091738 Phase 4 Ramelteon Pill
45 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Recruiting NCT02757170 Phase 4
46 Rifaximin Reduces the Complications of Decompensated Cirrhosis: a Randomized Controlled Trial Recruiting NCT02190357 Phase 4 Rifaximin
47 Optimum Thiamine Intervention (OpTIn) Trial Recruiting NCT02788552 Phase 4 Thiamine Hydrochloride
48 The Effect of Branched-chain Amino Acid on the Improvement of Serum Albumin Level in Cirrhotic Patients With Ascites Recruiting NCT02755701 Phase 4 Branched-chain Amino Acid;Placebo
49 Low-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy Not yet recruiting NCT03077217 Phase 4 Rifaximin
50 Efficacity and Safety of Tranexamic Acid in Cirrhotic Patients Presenting With Acute Upper Gastrointestinal Bleeding Not yet recruiting NCT03023189 Phase 4 Tranexamic acid;Placebo

Search NIH Clinical Center for Encephalopathy

Genetic Tests for Encephalopathy

Genetic tests related to Encephalopathy:

id Genetic test Affiliating Genes
1 Encephalopathy 29

Anatomical Context for Encephalopathy

MalaCards organs/tissues related to Encephalopathy:

39
Liver, Brain, Testes, Thyroid, Eye, Spleen, Heart

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 3701)
id Title Authors Year
1
CAD mutations and uridine-responsive epileptic encephalopathy. ( 28007989 )
2017
2
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy. ( 28883258 )
2017
3
DNM1 encephalopathy: A new disease of vesicle fission. ( 28667181 )
2017
4
Epilepsy surgery for epileptic encephalopathy as a sequela of herpes simplex encephalitis: case report. ( 28452654 )
2017
5
Avoid mitochondrion-toxic antiepileptic drugs in glycine encephalopathy. ( 28882326 )
2017
6
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. ( 28413018 )
2017
7
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
8
Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion. ( 28413125 )
2017
9
Brain Banks and Tissue Repositories for Blast-Related Chronic Traumatic Encephalopathy Research. ( 28937954 )
2017
10
Exome sequence identified a c.320AA >A G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. ( 28778787 )
2017
11
Early hypoperfusion on arterial spin labeling may be a diagnostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. ( 28477981 )
2017
12
Re-examining the arterial cord blood gas pH screening criteria in neonatal encephalopathy. ( 28942435 )
2017
13
The Effects of Probiotics and Symbiotics on Risk Factors for Hepatic Encephalopathy: A Systematic Review. ( 28059938 )
2017
14
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. ( 28755360 )
2017
15
Therapeutic hypothermia in mild neonatal encephalopathy: a national survey of practice in the UK. ( 28942433 )
2017
16
Acute Generalized Chorea as Presenting Manifestation of Uremic Encephalopathy. ( 28936101 )
2017
17
Routine fruit washing to prevent acute toxic encephalopathy. ( 28807178 )
2017
18
A case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion. ( 28501474 )
2017
19
Myoclonic seizure prior to diagnosis of chronic toxic encephalopathy: a case report. ( 28173825 )
2017
20
Hepatic Encephalopathy. ( 28076712 )
2017
21
Posterior reversible encephalopathy syndrome (PRES) with obstructive hydrocephalus. ( 28408184 )
2017
22
Hepatic Encephalopathy. ( 28079344 )
2017
23
Association of acute toxic encephalopathy with litchi consumption in an outbreak in Muzaffarpur, India, 2014: a case-control study. ( 28153514 )
2017
24
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'? ( 28939639 )
2017
25
Cerebral adenovirus endotheliitis presenting as posterior reversible encephalopathy syndrome after allogeneic stem cell transplantation. ( 28692025 )
2017
26
Altered gene expression profile in a mouse model of SCN8A encephalopathy. ( 27836728 )
2017
27
A Observational cohort study of hepatic encephalopathy after transjugular intrahepatic portosystemic shunt (TIPS). ( 28051803 )
2017
28
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. ( 28747448 )
2017
29
Nitrosative Stress-Induced Disruption of Baroreflex Neural Circuits in a Rat Model of Hepatic Encephalopathy: A DTI Study. ( 28079146 )
2017
30
Color vision abnormality as the sole manifestation of posterior reversible encephalopathy due to post-partum HELLP syndrome. ( 28109137 )
2017
31
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. ( 27861786 )
2017
32
Hypercalcaemic encephalopathy due to metastatic parathyroid carcinoma. ( 28566413 )
2017
33
An educational tool for the prophylaxis of hepatic encephalopathy. ( 28944074 )
2017
34
Reversible cerebral vasoconstriction syndrome combined with posterior reversible encephalopathy syndrome after heart transplantation. ( 28416081 )
2017
35
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome associated with intracranial hypotension. ( 27848124 )
2017
36
Shunt-preserving disconnection of the portal to systemic circulation in patients with hepatic encephalopathy. ( 28791885 )
2017
37
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 28637934 )
2017
38
GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. ( 28202424 )
2017
39
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene. ( 28325525 )
2017
40
Scrapie, CWD, and Transmissible Mink Encephalopathy. ( 28838664 )
2017
41
Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. ( 28698729 )
2017
42
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia. ( 28336122 )
2017
43
Flumazenil versus placebo or no intervention for people with cirrhosis and hepatic encephalopathy. ( 28796283 )
2017
44
A rare complication of vomiting in pregnancy: Wernicke encephalopathy. ( 28456382 )
2017
45
Dopamine Burden Induced the Inactivation of Sonic Hedgehog Signaling to Cognitive Decline in Minimal Hepatic Encephalopathy. ( 28840059 )
2017
46
Importance of correctly interpreting magnetic resonance imaging to diagnose posterior reversible encephalopathy syndrome associated with HELLP syndrome: a case report. ( 28545408 )
2017
47
A patient with a 'typical presentation' of Wernicke encephalopathy was found to have sporadic Creutzfeldt-Jakob disease. ( 28653943 )
2017
48
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. ( 28364549 )
2017
49
Venous hypertensive encephalopathy secondary to venous sinus thrombosis and dural arteriovenous fistula. ( 28512209 )
2017
50
Acute necrotizing encephalopathy causing human bocavirus. ( 28059631 )
2017

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Pathogenic/Likely pathogenic rs864321623 GRCh38 Chromosome 2, 209777524: 209777524
2 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200659479 GRCh38 Chromosome 2, 209813719: 209813719
3 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864321622 GRCh38 Chromosome 2, 209872917: 209872917

Copy number variations for Encephalopathy from CNVD:

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

Expression for Encephalopathy

Search GEO for disease gene expression data for Encephalopathy.

Pathways for Encephalopathy

Pathways related to Encephalopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.53 GNAO1 MECP2 PRNP SCN1A STXBP1

GO Terms for Encephalopathy

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.28 ACADM DNM1L ETHE1 FH MECP2 RANBP2
2 postsynapse GO:0098794 8.96 MECP2 PRNP

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.35 CDKL5 DENND5A DNM1L GNAO1 RANBP2
2 neuromuscular process controlling posture GO:0050884 8.62 MECP2 SCN1A

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

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 8.62 GNAO1 RANBP2

Sources for Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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37 KEGG
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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