MCID: ENC018
MIFTS: 62

Encephalopathy

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

Aliases & Classifications for Encephalopathy

MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 54 54 29 55 6 40
Encephalopathies 73
Brain Diseases 73

Classifications:



External Ids:

Summaries for Encephalopathy

NINDS : 54 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 early myoclonic encephalopathy and epileptic encephalopathy, early infantile, 6, and has symptoms including ataxia, athetosis and back pain. An important gene associated with Encephalopathy is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are Neuroscience and Glypican 1 network. The drugs Zinc and Vigabatrin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 76 Encephalopathy (/ɛnˌsɛfəˈlɒpəθi/; from Ancient Greek: ἐγκέφαλος \"brain\" + πάθος \"suffering\") means... 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

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

(show top 50) (show all 949)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 33.6 CDKL5 SCN1A SLC25A22
2 epileptic encephalopathy, early infantile, 6 33.4 CDKL5 PCDH19 SCN1A SLC25A22 STXBP1
3 epileptic encephalopathy, early infantile, 9 33.4 CDKL5 MECP2 PCDH19 SCN1A
4 infantile epileptic encephalopathy 33.1 CDKL5 PCDH19 SCN1A SLC25A22 SPTAN1 STXBP1
5 febrile infection-related epilepsy syndrome 33.0 PCDH19 SCN1A
6 epileptic encephalopathy, early infantile, 15 32.9 CDKL5 GNAO1 PCDH19 SCN1A SLC25A22 SPTAN1
7 west syndrome 32.2 CDKL5 MECP2 SCN1A SLC25A22 SPTAN1 STXBP1
8 undetermined early-onset epileptic encephalopathy 32.1 AP3B2 ARV1 SLC13A5 STXBP1
9 malignant migrating partial seizures of infancy 32.0 SCN1A SLC25A22
10 focal epilepsy 30.2 CDKL5 SCN1A SPTAN1
11 seizure disorder 29.1 CDKL5 FRRS1L MECP2 SCN1A STXBP1
12 encephalopathy, ethylmalonic 12.3
13 wernicke encephalopathy 12.3
14 hypertensive encephalopathy 12.2
15 encephalopathy, familial, with neuroserpin inclusion bodies 12.2
16 hepatic encephalopathy 12.2
17 glycine encephalopathy 12.2
18 stxbp1 encephalopathy with epilepsy 12.2
19 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.2
20 encephalopathy, acute, infection-induced 4 12.2
21 chd2 myoclonic encephalopathy 12.1
22 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.1
23 mitochondrial neurogastrointestinal encephalopathy disease 12.1
24 epileptic encephalopathy, early infantile, 3 12.1
25 scn8a encephalopathy 12.1
26 scn8a-related epilepsy with encephalopathy 12.1
27 epileptic encephalopathy, early infantile, 7 12.1
28 acute necrotizing encephalopathy type 1 12.1
29 glycine encephalopathy with normal serum glycine 12.1
30 acute necrotizing encephalopathy 12.1
31 epileptic encephalopathy, early infantile, 4 12.1
32 epileptic encephalopathy, early infantile, 1 12.1
33 gnao1 encephalopathy 12.0
34 encephalopathy, neonatal severe, due to mecp2 mutations 12.0
35 mecp2-related severe neonatal encephalopathy 12.0
36 epileptic encephalopathy, early infantile, 12 12.0
37 epileptic encephalopathy, early infantile, 8 12.0
38 encephalopathy due to defective mitochondrial and peroxisomal fission 1 12.0
39 epileptic encephalopathy, early infantile, 27 12.0
40 epileptic encephalopathy, childhood-onset 12.0
41 epileptic encephalopathy, early infantile, 26 12.0
42 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 12.0
43 toxic encephalopathy 12.0
44 epileptic encephalopathy, early infantile, 29 12.0
45 encephalopathy, progressive, with or without lipodystrophy 12.0
46 encephalopathy, progressive, with amyotrophy and optic atrophy 12.0
47 epileptic encephalopathy, early infantile, 28 12.0
48 epileptic encephalopathy, early infantile, 50 12.0
49 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 12.0
50 tango2-related metabolic encephalopathy and arrhythmias 12.0

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, sleeplessness, catatonic reaction, pseudobulbar signs

MGI Mouse Phenotypes related to Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AP3B2 ARV1 CDKL5 DNM1L ETHE1 FRRS1L
2 nervous system MP:0003631 9.7 AP3B2 CDKL5 DNM1L GNAO1 MECP2 PCDH19
3 vision/eye MP:0005391 9.17 CDKL5 DNM1L GNAO1 MECP2 PRNP TGFB1

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 1280)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-66-6 23994
2
Vigabatrin Approved Phase 4,Phase 2,Not Applicable 68506-86-5, 60643-86-9 5665
3
Naproxen Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 22204-53-1 1302 156391
4
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 137-58-6 3676
5
Ticlopidine Approved Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 55142-85-3 5472
6
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
7
Clopidogrel Approved Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 120202-66-6, 113665-84-2 60606
8
Sertraline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 79617-96-2 68617
9
Menthol Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 2216-51-5 16666
10
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 59-66-5 1986
11
Nicotine Approved Phase 4,Not Applicable 54-11-5 942 89594
12
Remifentanil Approved Phase 4,Phase 3,Not Applicable 132875-61-7 60815
13
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 79902-63-9 54454
14
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 657-24-9 14219 4091
15
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-23-7 5754
16
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 19982-08-2 4054
17
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Not Applicable 28523-86-6 5206
18
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-53-9 2520
19
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123441-03-2 77991
20
Warfarin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81-81-2 6691 54678486
21
Cysteamine Approved, Investigational Phase 4,Phase 2,Phase 3 60-23-1 6058
22
Midodrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 133163-28-7, 42794-76-3 4195
23
Heparin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 9005-49-6 772 46507594
24
Clobazam Approved, Illicit Phase 4,Phase 3,Phase 2 22316-47-8 2789
25
Mannitol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 69-65-8 453 6251
26
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
27
Valsartan Approved, Investigational Phase 4,Not Applicable 137862-53-4 60846
28
Ketorolac Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 74103-06-3, 66635-83-4 3826
29
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-84-3 187
30
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 97240-79-4 5284627
31
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 2 58-93-5 3639
32
Nimodipine Approved, Investigational Phase 4,Not Applicable 66085-59-4 4497
33
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
34
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
35
Galantamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 357-70-0 9651
36
Modafinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 68693-11-8 4236
37
Norepinephrine Approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-41-2 439260
38
Phenytoin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 57-41-0 1775
39
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 50-78-2 2244
40
Temozolomide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 85622-93-1 5394
41
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 298-46-4 2554
42
Carbidopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28860-95-9 34359 38101
43
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
44
Ketamine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 6740-88-1 3821
45
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2 60142-96-3 3446
46
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 106266-06-2 5073
47
Zonisamide Approved, Investigational Phase 4,Phase 3,Not Applicable 68291-97-4 5734
48
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
49
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Not Applicable 50-48-6 2160
50
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 57-27-2 5288826

Interventional clinical trials:

(show top 50) (show all 10371)
# Name Status NCT ID Phase Drugs
1 Metformin Experience on Minimal Hepatic Encephalopathy Unknown status NCT02470546 Phase 4 Metformin;Placebo
2 Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis Unknown status NCT01175538 Phase 4 Lactulose;Lactulose
3 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
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 Study About Simvastatin in Portal Hypertension in Compensated Cirrhosis Unknown status NCT01282398 Phase 4 Simvastatin;placebo
15 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
16 Hemodynamic Effect of Simvastatin With Beta Blockers in Clinical Portal Hypertension Unknown status NCT01282385 Phase 4 Simvastatin;placebo
17 Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis Unknown status NCT01438437 Phase 4
18 The Effect of Carvedilol Vs Propranolol in Cirrhotic Patients With Variceal Bleeding Unknown status NCT02385422 Phase 4 Carvedilol;Propranolol
19 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
20 Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy Unknown status NCT02726919 Phase 4 Clobazam
21 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
22 NIMIP: Non Invasive Measurement of the Intracranial Pressure Unknown status NCT01685450 Phase 4
23 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
24 Hormone Profiles in Adults With Newly Diagnosed Epilepsy Unknown status NCT00137709 Phase 4 Sodium valproate;Lamotrigine
25 Study to Improve the Treatment of Epilepsy (SITE) Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
26 Consequence of Dexmedetomidine on Emergence Deliruim After Sevoflurane Anesthesia in Children With Cerebral Palsy Unknown status NCT02244515 Phase 4 dexmedetomidine
27 Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote Unknown status NCT00312676 Phase 4
28 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Unknown status NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
29 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 Midazolam;Placebo
30 Growth Hormone and Brain Functioning After Traumatic Brain Injury Unknown status NCT01699308 Phase 4 Genotropin (somatropin)
31 The CAPTAIN Trial: Cerebrolysin Asian Pacific Trial in Acute Brain Injury and Neurorecovery Unknown status NCT01606111 Phase 4 Cerebrolysin;0.9% NaCl, saline
32 Effect of Rozerem on Sleep Among People With Traumatic Brain Injury Unknown status NCT01207050 Phase 4 Ramelteon
33 GON-block in Chronic Migraine: a Randomized, Double- Blind, Placebo-controlled Study Unknown status NCT02686983 Phase 4 Betamethasone and local anesthetic
34 The Combined Effects of omega3 Fatty Acids and Curcumin Supplementation on Inflammatory and Endothelial Factors in Migraine Patients Unknown status NCT02532023 Phase 4
35 Occipital Transcutaneous Stimulation in Chronic Migraine Unknown status NCT02307071 Phase 4
36 Preventive Treatment of Episodic and Chronic Migraine Unknown status NCT01319825 Phase 4 milnacipran
37 A Double-blind, Placebo-controlled Pilot Study to Collect and Evaluate Data on the Use of Intravenous Ibuprofen in the Treatment of an Acute Migraine Attack Unknown status NCT01230411 Phase 4 Ibuprofen
38 American Migraine Prevention Study Unknown status NCT00363506 Phase 4
39 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
40 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
41 The Effect of Dexmedetomidine to Cognition of Geriatrics in Prolonged Surgery Unknown status NCT02123355 Phase 4 Induction of anesthesia;Sevoflurane, remifentanil ,vecuronium;Dexmedetomidine;Placebo
42 Effects of Cerebrolysin Combined With Rehabilitation on Motor Recovery in Stroke Unknown status NCT02768571 Phase 4 Cerebrolysin;Placebo
43 Effectiveness and Safety of Yiqitongluo Granule for Stroke Unknown status NCT02604654 Phase 4 Yiqitongluo granule
44 The Safety and Efficacy Study of High Dose Atorvastatin After Thrombolytic Treatment in Acute Ischemic Stroke Unknown status NCT02452502 Phase 4
45 4-point vs 4-roll Canne as Walking Aids After Stroke Unknown status NCT02279069 Phase 4
46 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4 Danhong Injection;Normal Saline
47 FINGER Robot Therapy Study Unknown status NCT02048826 Phase 4
48 Stratification of Blood Pressure Control Against Progress of Cerebral Small Vessel Diseases in Poststroke Patients Unknown status NCT01819441 Phase 4 Azelnidipine;Perindopril;hydrochlorothiazide
49 Creative Therapy to Affect Stroke Outcomes Unknown status NCT01455155 Phase 4
50 Effects on Clinical and Functional Outcome of Escitalopram in Adult Stroke Patients Unknown status NCT00967408 Phase 4 Escitalopram;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:

41
Brain, Liver, Testes, Bone, Eye, Pituitary, Heart

Publications for Encephalopathy

Articles related to Encephalopathy:

(show top 50) (show all 4539)
# Title Authors Year
1
Posterior Reversible Encephalopathy Syndrome Secondary to Acute PostStreptococcal Glomerulonephritis in a 12-year-old Girl. ( 29290203 )
2018
2
RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy. ( 29687329 )
2018
3
Posterior reversible encephalopathy syndrome and takotsubo cardiomyopathy associated with lenvatinib therapy for thyroid cancer: a case report and review. ( 29963277 )
2018
4
Encephalopathy in an adult with cat-scratch disease. ( 29507029 )
2018
5
Tanshinone IIA improves hypoxic ischemic encephalopathy through TLRa894a89mediated NFa89I_B signal pathway. ( 29956801 )
2018
6
Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report. ( 29386039 )
2018
7
An aggravated return-to-work case of organic solvent induced chronic toxic encephalopathy. ( 29719722 )
2018
8
Human T-cell lymphotropic virus (HTLV)-associated encephalopathy: an under-recognised cause of acute encephalitis? Case series and literature review. ( 29423617 )
2018
9
Disrupted Brain Intrinsic Networks and Executive Dysfunction in Cirrhotic Patients without Overt Hepatic Encephalopathy. ( 29422882 )
2018
10
A Case of Wernicke Encephalopathy Developing After Ileal Bypass Surgery. ( 29596284 )
2018
11
An adult case with shigellosis-associated encephalopathy. ( 29351935 )
2018
12
Chronic Traumatic Encephalopathy in Professional American Football Players: Where Are We Now? ( 29971037 )
2018
13
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
14
Mutations in SCN3A cause early infantile epileptic encephalopathy. ( 29466837 )
2018
15
Comparison of prognostic systems in cirrhotic patients with hepatic encephalopathy ( 29914250 )
2018
16
Association of hemolysis, elevated liver enzymes, low platelets syndrome with posterior reversible encephalopathy and intracranial hypotension. ( 29322989 )
2018
17
Identification of Protein Kinase C Isoforms Involved in Type 1 Diabetic Encephalopathy in Mice. ( 29744369 )
2018
18
Effect of probiotic treatment on cirrhotic patients with minimal hepatic encephalopathy: A meta-analysis. ( 29428113 )
2018
19
Control of macrophage autophagy by miR-384-5p in the development of diabetic encephalopathy. ( 29511445 )
2018
20
Is Lactulose Plus Rifaximin Better than Lactulose Alone in the Management of Hepatic Encephalopathy? ( 29394969 )
2018
21
Focal segmental glomerulosclerosis in children complicated by posterior reversible encephalopathy syndrome. ( 29310486 )
2018
22
Covert hepatic encephalopathy leads to distinct alterations in the emotional state, independently of MELD-Score. ( 29341039 )
2018
23
Patient Acceptance of Lactulose Varies Between Indian and American Cohorts: Implications for Comparing and Designing Global Hepatic Encephalopathy Trials. ( 29892171 )
2018
24
Acute toxic encephalopathy induced by occupational exposure to 1,2-dichloropropane. ( 29973469 )
2018
25
Evoked potential studies for predicting functional recovery in a case of acute necrotizing encephalopathy. ( 29744063 )
2018
26
Clinical Findings and Neurologic Outcome in Neonatal Encephalopathy With White Matter Injury Accompanied by Rotavirus. ( 29433417 )
2018
27
Baicalin reverses the impairment of synaptogenesis induced by dopamine burden via the stimulation of GABA<sub>A</sub>R-TrkB interaction in minimal hepatic encephalopathy. ( 29404643 )
2018
28
Inhibiting the NLRP3 Inflammasome Activation with MCC950 Ameliorates Diabetic Encephalopathy in db/db Mice. ( 29495433 )
2018
29
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. ( 29902590 )
2018
30
Effect of sirolimus on liver cirrhosis and hepatic encephalopathy of common bile duct-ligated rats. ( 29444470 )
2018
31
Case Report: Probable Case of Spontaneous Encephalopathy Due to Loiasis and Dramatic Reduction of <i>Loa loa</i> Microfilariaemia with Prolonged Repeated Courses of Albendazole. ( 29741149 )
2018
32
Refractory Hepatic Encephalopathy After Elective Transjugular Intrahepatic Portosystemic Shunt: Risk Factors and Outcomes with Revision. ( 29872892 )
2018
33
Adult severe encephalitis/encephalopathy with a reversible splenial lesion of the corpus callosum: A case report. ( 29953022 )
2018
34
Hashimoto's encephalopathy presenting as pseudobulbar palsy. ( 29368307 )
2018
35
Aberrant Brain Bile Acid Signaling and Cholesterol Accumulation: A New Look at Mechanisms in Hepatic Encephalopathy. ( 29928680 )
2018
36
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. ( 29696052 )
2018
37
EEG findings in CAR T-cell therapy-related encephalopathy. ( 29959264 )
2018
38
Identification of modules of hepatic encephalopathy based on protein-protein network and gene expression data. ( 29849776 )
2018
39
A Seizure and Hemiplegia following Contrast Exposure: Understanding Contrast-Induced Encephalopathy. ( 29686712 )
2018
40
Acute focal bacterial nephritis characterized by acute encephalopathy with biphasic seizures and late reduced diffusion. ( 29752196 )
2018
41
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. ( 29882329 )
2018
42
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU. ( 29858110 )
2018
43
CT Scan Is Still a Valuable Tool to Assess Hepatic Encephalopathy Pathophysiology in Both Acute and Chronic Liver Diseases. ( 29912129 )
2018
44
Acute necrotizing encephalopathy in an adult with influenza A infection. ( 29720877 )
2018
45
Hepatic encephalopathy: causes and health-related burden. ( 29411993 )
2018
46
New Developments in Hypertensive Encephalopathy. ( 29480370 )
2018
47
The Etiological Spectrum of Febrile Encephalopathy in Adult Patients: A Cross-Sectional Study from a Developing Country. ( 29971164 )
2018
48
Acute encephalopathy with biphasic seizures and late reduced diffusion associated with <i>Streptococcus sanguinis</i> sepsis. ( 29721246 )
2018
49
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. ( 29134705 )
2018
50
Encephalopathy after chocolate consumption. ( 29438643 )
2018

Variations for Encephalopathy

ClinVar genetic disease variations for Encephalopathy:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 GRCh38 Chromosome 2, 209777524: 209777524
2 UNC80 NM_032504.1(UNC80): c.565G> A (p.Val189Met) single nucleotide variant Likely pathogenic rs864321623 GRCh37 Chromosome 2, 210642248: 210642248
3 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 GRCh38 Chromosome 2, 209813719: 209813719
4 UNC80 NM_032504.1(UNC80): c.1078C> T (p.Arg360Ter) single nucleotide variant Likely pathogenic rs200659479 GRCh37 Chromosome 2, 210678443: 210678443
5 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 GRCh38 Chromosome 2, 209872917: 209872917
6 UNC80 NM_032504.1(UNC80): c.3793C> T (p.Arg1265Ter) single nucleotide variant Likely pathogenic rs864321622 GRCh37 Chromosome 2, 210737641: 210737641
7 46;XY;inv(14)(q13q24.1) inversion Likely pathogenic
8 46;XY;inv(9)(p21.2p22.1) inversion Uncertain significance
9 MT-ND4 NC_012920.1: m.11815C> G single nucleotide variant Uncertain significance rs879025367 GRCh37 Chromosome MT, 11815: 11815
10 MT-ND4 NC_012920.1: m.11815C> G single nucleotide variant Uncertain significance rs879025367 GRCh38 Chromosome MT, 11815: 11815
11 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 GRCh37 Chromosome MT, 12013: 12013
12 MT-ND4 NC_012920.1: m.12013A> G single nucleotide variant Uncertain significance rs1057516067 GRCh38 Chromosome MT, 12013: 12013
13 MT-ND4 NC_012920.1: m.12018C> G single nucleotide variant Uncertain significance rs1057516068 GRCh37 Chromosome MT, 12018: 12018
14 MT-ND4 NC_012920.1: m.12018C> G single nucleotide variant Uncertain significance rs1057516068 GRCh38 Chromosome MT, 12018: 12018
15 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41858817: 41858817
16 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41352912: 41352912
17 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41352717: 41352717
18 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41858622: 41858622
19 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 41836971: 41836971
20 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 41331066: 41331066

Copy number variations for Encephalopathy from CNVD:

7
# 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:

# Super pathways Score Top Affiliating Genes
1 11.56 GNAO1 MECP2 PRNP SCN1A STXBP1
2 10.37 PRNP TGFB1

GO Terms for Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.83 AP3B2 ARV1 DENND5A DNM1L FRRS1L GNAO1
2 postsynapse GO:0098794 8.92 DNM1L MECP2 PRNP STXBP1

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 CDKL5 DNM1L GNAO1 RANBP2
2 neuromuscular process controlling posture GO:0050884 8.96 MECP2 SCN1A
3 negative regulation of interleukin-17 production GO:0032700 8.62 PRNP TGFB1

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 8.8 MECP2 STXBP1 TGFB1

Sources for Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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