MCID: ENC018
MIFTS: 59

Encephalopathy malady

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

Aliases & Classifications for Encephalopathy

Aliases & Descriptions for Encephalopathy:

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

Classifications:



External Ids:

ICD10 33 G93.4

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.

MalaCards based summary : Encephalopathy, also known as encephalopathies, is related to epileptic encephalopathy, early infantile, 15 and pulmonary hypertension, 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 Norepinephrine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are behavior/neurological and mortality/aging

Wikipedia : 71 Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease of the brain. In modern usage,... more...

Related Diseases for Encephalopathy

Diseases in the Encephalopathy family:

Itpa-Related Encephalopathy

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

(show top 50) (show all 777)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 32.6 ARX CDKL5 GNAO1 PNPO SCN1A SLC25A22
2 pulmonary hypertension 28.7 ARX CDKL5 MECP2 SLC25A22 STXBP1
3 hypertensive encephalopathy 12.2
4 ethylmalonic encephalopathy 12.2
5 glycine encephalopathy 12.1
6 toxic encephalopathy 12.1
7 hepatic encephalopathy 12.1
8 mitochondrial neurogastrointestinal encephalopathy disease 12.1
9 chd2 myoclonic encephalopathy 12.0
10 encephalopathy, familial, with neuroserpin inclusion bodies 12.0
11 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.0
12 stxbp1 encephalopathy with epilepsy 12.0
13 early myoclonic encephalopathy 12.0
14 acute necrotizing encephalopathy 12.0
15 wernicke encephalopathy 12.0
16 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 11.9
17 epileptic encephalopathy, early infantile, 1 11.9
18 mecp2-related severe neonatal encephalopathy 11.9
19 encephalopathy, neonatal severe 11.9
20 epileptic encephalopathy, early infantile, 9 11.9
21 scn8a encephalopathy 11.9
22 epileptic encephalopathy, early infantile, 3 11.9
23 acute necrotizing encephalopathy type 1 11.9
24 encephalopathy, acute, infection-induced, 4 11.9
25 hemorrhagic shock and encephalopathy syndrome 11.9
26 epileptic encephalopathy, childhood-onset 11.9
27 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 11.9
28 epileptic encephalopathy, early infantile, 2 11.9
29 epileptic encephalopathy, early infantile, 26 11.9
30 epileptic encephalopathy, early infantile, 7 11.9
31 epileptic encephalopathy, early infantile, 4 11.9
32 epileptic encephalopathy, early infantile, 29 11.9
33 epileptic encephalopathy, early infantile, 27 11.9
34 encephalopathy, progressive, with or without lipodystrophy 11.9
35 epileptic encephalopathy, early infantile, 28 11.9
36 epileptic encephalopathy, early infantile, 8 11.9
37 epileptic encephalopathy, early infantile, 11 11.8
38 epileptic encephalopathy, early infantile, 12 11.8
39 epileptic encephalopathy, early infantile, 18 11.8
40 epileptic encephalopathy, early infantile, 5 11.8
41 epileptic encephalopathy, early infantile, 23 11.8
42 epileptic encephalopathy, early infantile, 25 11.8
43 epileptic encephalopathy, early infantile, 32 11.8
44 epileptic encephalopathy, early infantile, 34 11.8
45 epileptic encephalopathy, early infantile, 33 11.8
46 epileptic encephalopathy, early infantile, 31 11.8
47 epileptic encephalopathy, early infantile, 30 11.8
48 epileptic encephalopathy, early infantile, 14 11.8
49 epileptic encephalopathy, early infantile, 21 11.8
50 epileptic encephalopathy, early infantile, 19 11.8

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


Abdominal Obesity-Metabolic Syndrome 1 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 9.9 MECP2 PRNP SCN1A SERPINI1 SLC1A2 ARX
2 mortality/aging MP:0010768 9.73 MECP2 POLG PRNP SCN1A SLC1A2 ACADM
3 nervous system MP:0003631 9.32 GNAO1 MECP2 POLG PRNP SCN1A SLC1A2

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 1130)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
3
Mannitol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 69-65-8 453 6251
4
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 84057-84-1 3878
5
Phenytoin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 57-41-0 1775
6
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 298-46-4 2554
7
Baclofen Approved Phase 4,Phase 2 1134-47-0 2284
8
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1 59-92-7 6047
9
Nicotine Approved Phase 4,Phase 1,Phase 2 54-11-5 942 89594
10
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1 7440-66-6 32051 23994
11
Testosterone Approved, Investigational Phase 4 58-22-0 6013
12
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-78-2 2244
13
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1 52-53-9 2520
14
Colchicine Approved Phase 4 64-86-8 6167 2833
15
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
16
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3 51-43-4 5816
17
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
18
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
19
Morphine Approved, Investigational Phase 4,Phase 2,Phase 1 57-27-2 5288826
20
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
21
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99-66-1 3121
22
Candesartan Approved Phase 4,Phase 2,Phase 3 139481-59-7 2541
23
Carvedilol Approved, Investigational Phase 4,Phase 2,Phase 3 72956-09-3 2585
24
Nitroglycerin Approved, Investigational Phase 4,Phase 3,Phase 2 55-63-0 4510
25
Warfarin Approved Phase 4,Phase 3,Phase 2,Phase 1 81-81-2 6691 54678486
26
Donepezil Approved Phase 4,Phase 3,Phase 1,Phase 2 120014-06-4 3152
27
Galantamine Approved Phase 4,Phase 3,Phase 2 357-70-0 9651 908828, 9651
28
Rivastigmine Approved, Investigational Phase 4,Phase 1 123441-03-2 77991
29
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 51-84-3 187
30
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 19982-08-2 4054
31
Atropine Approved, Vet_approved Phase 4,Phase 2 5908-99-6, 51-55-8 174174
32 Piracetam Approved Phase 4,Phase 3,Phase 2,Phase 1 7491-74-9
33
Metoclopramide Approved, Investigational Phase 4,Phase 3 364-62-5 4168
34
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 75614-87-8, 51-45-6 774
35
Propranolol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 525-66-6 4946
36
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
37
Sumatriptan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 103628-46-2 5358
38
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1 97240-79-4 5284627
39
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
40
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 113-45-1 4158
41
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
42
Fluoxetine Approved, Vet_approved Phase 4,Phase 3,Phase 2 54910-89-3 3386
43
Antipyrine Approved Phase 4,Phase 1 60-80-0 2206
44
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
45
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22204-53-1 1302 156391
46
Sevoflurane Approved, Vet_approved Phase 4,Phase 3,Phase 2 28523-86-6 5206
47
Lactulose Approved Phase 4,Phase 3,Phase 2,Phase 1 4618-18-2 11333
48
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
49
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
50
Citalopram Approved Phase 4,Phase 2,Phase 1 59729-33-8 2771

Interventional clinical trials:

(show top 50) (show all 6476)
id Name Status NCT ID Phase
1 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4
2 Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis Unknown status NCT01175538 Phase 4
3 Metformin Experience on Minimal Hepatic Encephalopathy Unknown status NCT02470546 Phase 4
4 Efficacy of Combined Oral L-Ornithine-L-Aspartate and Lactulose in Patients With Hepatic Encephalopathy Unknown status NCT00740142 Phase 4
5 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Minimal Encephalopathy Unknown status NCT00896831 Phase 4
6 Trial Comparing Sedation for Endoscopy With Propofol Versus Midazolam in Cirrhotics Unknown status NCT01356121 Phase 4
7 Study on B-blockers to Prevent Decompensation of Cirrhosis With HTPortal Unknown status NCT01059396 Phase 4
8 Rifaximin Versus Lactulose in Renal Failure Unknown status NCT00748904 Phase 4
9 Magnesium in Liver Cirrhosis Unknown status NCT01894867 Phase 4
10 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4
11 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
12 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4
13 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
14 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4
15 Effect of Deep Brain Stimulation on Gait of Patients With Parkinson's Disease Depending on Electrode Location in Subthalamic Area Unknown status NCT01782638 Phase 4
16 Study of Long-Term Peg Intron Vs. Colchicine in Non-Responders. Unknown status NCT00179413 Phase 4
17 NIMIP: Non Invasive Measurement of the Intracranial Pressure Unknown status NCT01685450 Phase 4
18 Cognitive and Behavioral Effects of Lacosamide Unknown status NCT01175954 Phase 4
19 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
20 Hormone Profiles in Adults With Newly Diagnosed Epilepsy Unknown status NCT00137709 Phase 4
21 Study to Improve the Treatment of Epilepsy (SITE) Unknown status NCT00133081 Phase 4
22 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
23 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
24 Cerebral Artery Stenosis, Coronary Artery Disease and Arrhythmia Unknown status NCT00247533 Phase 4
25 Effect of Rozerem on Sleep Among People With Traumatic Brain Injury Unknown status NCT01207050 Phase 4
26 Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote Unknown status NCT00312676 Phase 4
27 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Unknown status NCT00752934 Phase 4
28 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients Unknown status NCT01780467 Phase 4
29 Growth Hormone and Brain Functioning After Traumatic Brain Injury Unknown status NCT01699308 Phase 4
30 A Comparison of Propofol Versus Midazolam to Sedate Critically Brain Injury; Measurement of Cytokine Response and Assessment of Function Unknown status NCT01712477 Phase 4
31 A Clinical Trial of the Effect of Midazolam on the Cerebral Metabolism and Inflammatory Response in Patients With Moderate and Severe Traumatic Brain Injury Unknown status NCT02071407 Phase 4
32 The CAPTAIN Trial: Cerebrolysin Asian Pacific Trial in Acute Brain Injury and Neurorecovery Unknown status NCT01606111 Phase 4
33 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Unknown status NCT01386255 Phase 4
34 American Migraine Prevention Study Unknown status NCT00363506 Phase 4
35 Occipital Transcutaneous Stimulation in Chronic Migraine Unknown status NCT02307071 Phase 4
36 A Randomized Trial of Valproate Versus Ketorolac Versus Metoclopramide for Acute Migraine Unknown status NCT01267864 Phase 4
37 Preventive Treatment of Episodic and Chronic Migraine Unknown status NCT01319825 Phase 4
38 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
39 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
40 Drug Treatment Validation of Functional Magnetic Resonance Imaging in Generalized Anxiety Disorder Unknown status NCT00662259 Phase 4
41 Early Warning and Optimization Strategy in Carotid Endarterectomy Unknown status NCT01210937 Phase 4
42 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4
43 Creative Therapy to Affect Stroke Outcomes Unknown status NCT01455155 Phase 4
44 Intensive Versus Nonintensive Insulin Therapy for Hyperglycemia After Traumatic Brain Injury Unknown status NCT02161055 Phase 4
45 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment Unknown status NCT00306124 Phase 4
46 The Effect of Dexmedetomidine to Cognition of Geriatrics in Prolonged Surgery Unknown status NCT02123355 Phase 4
47 The Outcomes of Seamless ADL Training Between Occupational Therapist and Nurse in Stroke Patients Unknown status NCT02361307 Phase 4
48 4-point vs 4-roll Canne as Walking Aids After Stroke Unknown status NCT02279069 Phase 4
49 Multi-"Omics" Research of Danhong Injection to Treat Acute Ischemic Stroke Unknown status NCT02176395 Phase 4
50 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4

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
Brain, Liver, Testes, Thyroid, Spleen, Bone, Kidney

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 3551)
id Title Authors Year
1
Plasma Membrane Naa8_-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy. ( 28264506 )
2017
2
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. ( 28335020 )
2017
3
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. ( 28493438 )
2017
4
CAD mutations and uridine-responsive epileptic encephalopathy. ( 28007989 )
2017
5
Covert Hepatic Encephalopathy: Can My Patient Drive? ( 28027071 )
2017
6
Hepatic Encephalopathy. ( 28079343 )
2017
7
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
8
Hepatic Encephalopathy. ( 28079344 )
2017
9
Hepatic Encephalopathy. ( 28069286 )
2017
10
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
11
Altered gene expression profile in a mouse model of SCN8A encephalopathy. ( 27836728 )
2017
12
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome associated with intracranial hypotension. ( 27848124 )
2017
13
Nitrosative Stress-Induced Disruption of Baroreflex Neural Circuits in a Rat Model of Hepatic Encephalopathy: A DTI Study. ( 28079146 )
2017
14
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. ( 27989324 )
2017
15
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes. ( 28050007 )
2017
16
Performance characterization of a novel electronic number connection test to detect minimal hepatic encephalopathy in cirrhotic patients. ( 28092641 )
2017
17
Hepatic Encephalopathy. ( 28076712 )
2017
18
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene. ( 28325525 )
2017
19
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. ( 27867041 )
2017
20
Sleep disturbances in patients of liver cirrhosis with minimal hepatic encephalopathy before and after lactulose therapy. ( 28070704 )
2017
21
The Effects of Probiotics and Symbiotics on Risk Factors for Hepatic Encephalopathy: A Systematic Review. ( 28059938 )
2017
22
A Minimal hepatic encephalopathy in cirrhosis- how long to treat? ( 28051800 )
2017
23
A Observational cohort study of hepatic encephalopathy after transjugular intrahepatic portosystemic shunt (TIPS). ( 28051803 )
2017
24
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. ( 28078312 )
2017
25
The Neuroprotective Strategic Analysis for Patients with Acute Myocardial Infarction Combined with Hypoxic Ischemic Encephalopathy in ICU. ( 28065791 )
2017
26
Nitric oxide mediates effects of acute, not chronic, naltrexone on LPS-induced hepatic encephalopathy in cirrhotic rats. ( 28044452 )
2017
27
A Case of Hypertensive Encephalopathy with Enlarged Optic Nerve Sheath Measured by Transorbital Sonography. ( 27838176 )
2017
28
Cerebral vasospasm and wernicke encephalopathy secondary to adult cyclic vomiting syndrome: the role of magnesium. ( 27515947 )
2016
29
Wernicke's encephalopathy after total parenteral nutrition in patients with Crohn's disease. ( 27175122 )
2016
30
Clinical scenarios for the use of S100I^ as a marker of hepatic encephalopathy. ( 27158209 )
2016
31
Management of Hepatic Encephalopathy: A Primer. ( 27126547 )
2016
32
Pearls & Oy-sters: Spontaneous intracranial hypotension and posterior reversible encephalopathy syndrome. ( 26857956 )
2016
33
Wernicke Encephalopathy after Restrictive Bariatric Surgery. ( 27097609 )
2016
34
Epilepsy surgery in pediatric epileptic encephalopathy: when interictal EEG counts the most. ( 27179532 )
2016
35
Letter: stepwise diagnosis in covert hepatic encephalopathy - do not forget ammonia. ( 27634234 )
2016
36
Wernicke encephalopathy in a patient with liver failure: Clinical case report. ( 27399058 )
2016
37
Chronic negative myoclonus with hypercapnic encephalopathy. ( 27604982 )
2016
38
Brain edema: a valid endpoint for measuring hepatic encephalopathy? ( 27272740 )
2016
39
A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension. ( 27099774 )
2016
40
Non-alcoholic Wernicke Encephalopathy. ( 26787276 )
2016
41
Contemporary Understanding and Management of Overt and Covert Hepatic Encephalopathy. ( 27182210 )
2016
42
Magnetic Resonance Spectroscopy for Evaluating Portal-Systemic Encephalopathy in Patients with Chronic Hepatic Schistosomiasis Japonicum. ( 27977668 )
2016
43
Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers. ( 26553437 )
2016
44
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
45
Sex-dependent mitochondrial respiratory impairment and oxidative stress in a rat model of neonatal hypoxic-ischemic encephalopathy. ( 27197831 )
2016
46
TRPM6 mutation: A novel cause of "reversible" infantile epileptic encephalopathy. ( 27625251 )
2016
47
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade? ( 27651281 )
2016
48
Metronidazole-Induced Encephalopathy: A Case Report. ( 27180788 )
2016
49
Diffusion restriction in ethylmalonic encephalopathy - An imaging evidence of the pathophysiology of the disease. ( 26992475 )
2016
50
Controlling scrapie and bovine spongiform encephalopathy in goats. ( 26868240 )
2016

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 11.61 GNAO1 MECP2 PRNP SCN1A SLC1A2 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 9.32 ACADM DNM1L ETHE1 FH MECP2 POLG

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

id Name GO ID Score Top Affiliating Genes
1 response to light stimulus GO:0009416 9.26 POLG SLC1A2
2 L-glutamate transmembrane transport GO:0089711 9.16 SLC1A2 SLC25A22
3 neuromuscular process controlling posture GO:0050884 8.96 MECP2 SCN1A
4 L-glutamate transport GO:0015813 8.62 SLC1A2 SLC25A22

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

id Name GO ID Score Top Affiliating Genes
1 L-glutamate transmembrane transporter activity GO:0005313 8.96 SLC1A2 SLC25A22
2 high-affinity glutamate transmembrane transporter activity GO:0005314 8.62 SLC1A2 SLC25A22

Sources for Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....