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Encephalopathy

Categories: Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Encephalopathy

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MalaCards integrated aliases for Encephalopathy:

Name: Encephalopathy 55 55 30 56 6 41
Encephalopathies 74
Brain Diseases 74

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Immune diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

ICD10 34 G93.4
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Summaries for Encephalopathy

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NINDS : 55 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, 6 and epileptic encephalopathy, early infantile, 9, 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 are Neuroscience and Glypican 1 network. The drugs Rifaximin and Metformin 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 : 77 Encephalopathy (/ɛnˌsɛfəˈlɒpəθi/; from Ancient Greek: ἐνκέφαλος "brain" + πάθος "suffering") means any... more...

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Related Diseases for Encephalopathy

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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 1227)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 33.6 CDKL5 PCDH19 SCN1A SLC25A22 STXBP1
2 epileptic encephalopathy, early infantile, 9 33.6 CDKL5 MECP2 PCDH19 SCN1A
3 early myoclonic encephalopathy 33.5 CDKL5 SCN1A SLC25A22
4 febrile infection-related epilepsy syndrome 32.7 PCDH19 SCN1A
5 undetermined early-onset epileptic encephalopathy 32.6 AP3B2 NECAP1 SLC13A5 STXBP1
6 west syndrome 32.6 CDKL5 MECP2 SCN1A SPTAN1 STXBP1
7 early infantile epileptic encephalopathy 32.4 CDKL5 DENND5A FRRS1L GNAO1 NECAP1 PCDH19
8 malignant migrating partial seizures of infancy 31.8 SCN1A SLC25A22
9 kohlschutter-tonz syndrome 31.3 SERPINI1 SLC13A5
10 seizure disorder 30.9 CDKL5 MECP2 SCN1A
11 epilepsy 30.6 CDKL5 MECP2 PCDH19 SCN1A SERPINI1 STXBP1
12 focal epilepsy 30.1 CDKL5 SCN1A SPTAN1
13 bruxism 29.8 CDKL5 FRRS1L MECP2
14 wernicke encephalopathy 12.4
15 encephalopathy, ethylmalonic 12.4
16 hepatic encephalopathy 12.4
17 hypertensive encephalopathy 12.4
18 encephalopathy, familial, with neuroserpin inclusion bodies 12.4
19 glycine encephalopathy 12.4
20 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 12.4
21 epileptic encephalopathy, early infantile, 4 12.4
22 encephalopathy, acute, infection-induced 4 12.3
23 epileptic encephalopathy, early infantile, 7 12.3
24 chd2 myoclonic encephalopathy 12.3
25 stxbp1 encephalopathy with epilepsy 12.3
26 epileptic encephalopathy, early infantile, 3 12.3
27 scn8a encephalopathy 12.3
28 epileptic encephalopathy, early infantile, 15 12.3
29 hashimoto encephalopathy 12.3
30 epileptic encephalopathy, early infantile, 23 12.3
31 mitochondrial neurogastrointestinal encephalopathy disease 12.3
32 epileptic encephalopathy, early infantile, 1 12.3
33 acute necrotizing encephalopathy type 1 12.3
34 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.3
35 epileptic encephalopathy, childhood-onset 12.3
36 acute necrotizing encephalopathy 12.2
37 scn8a-related epilepsy with encephalopathy 12.2
38 epileptic encephalopathy, early infantile, 12 12.2
39 epileptic encephalopathy, early infantile, 2 12.2
40 encephalopathy, neonatal severe, due to mecp2 mutations 12.2
41 epileptic encephalopathy, early infantile, 14 12.2
42 mecp2-related severe neonatal encephalopathy 12.2
43 epileptic encephalopathy, early infantile, 8 12.2
44 epileptic encephalopathy, early infantile, 27 12.2
45 epileptic encephalopathy, early infantile, 26 12.2
46 epileptic encephalopathy, early infantile, 29 12.2
47 epileptic encephalopathy, early infantile, 50 12.2
48 epileptic encephalopathy, early infantile, 11 12.2
49 encephalopathy due to defective mitochondrial and peroxisomal fission 1 12.2
50 epileptic encephalopathy, early infantile, 28 12.2

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
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Symptoms & Phenotypes for Encephalopathy

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UMLS symptoms related to Encephalopathy:


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

MGI Mouse Phenotypes related to Encephalopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 AP3B2 CDKL5 DNM1L ETHE1 FRRS1L GNAO1
2 nervous system MP:0003631 9.7 AP3B2 CDKL5 DNM1L GNAO1 MECP2 PCDH19
3 vision/eye MP:0005391 9.17 AP3B2 CDKL5 DNM1L GNAO1 MECP2 PRNP
Sources

Drugs & Therapeutics for Encephalopathy

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

(show top 50) (show all 1312)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 80621-81-4 6436173 46783403
2
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 657-24-9 14219 4091
3
Lactulose Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 4618-18-2 11333
4
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59467-70-8 4192
5
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 2078-54-8 4943
6
Magnesium oxide Approved Phase 4,Early Phase 1 1309-48-4 14792
7
Levodopa Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 59-92-7 6047
8
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
9
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 79902-63-9 54454
10
Carvedilol Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 72956-09-3 2585
11
Nadolol Approved Phase 4,Phase 3 42200-33-9 39147
12
acetic acid Approved Phase 4 64-19-7 176
13
Propranolol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 525-66-6 4946
14
Clobazam Approved, Illicit Phase 4,Phase 3,Not Applicable 22316-47-8 2789
15
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
16
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
17
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
18
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
19
Clonazepam Approved, Illicit Phase 4,Phase 3,Phase 2,Not Applicable 1622-61-3 2802
20
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 84057-84-1 3878
21
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 99-66-1 3121
22
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 113775-47-6 68602 5311068
23
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Not Applicable 28523-86-6 5206
24
Mannitol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 69-65-8 453 6251
25
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 57-27-2 5288826
26
Clopidogrel Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 120202-66-6, 113665-84-2 60606
27
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
28
Curcumin Approved, Experimental, Investigational Phase 4,Phase 2,Phase 1 458-37-7 969516
29
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
30
Norepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-41-2 439260
31
Levomilnacipran Approved, Investigational Phase 4,Not Applicable 96847-54-0
32
Milnacipran Approved, Investigational Phase 4,Not Applicable 92623-85-3 65833
33
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 15687-27-1 3672
34
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1401-55-4
35
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 94-09-7, 1994-09-7 2337
36
Sufentanil Approved, Investigational Phase 4,Phase 2 56030-54-7 41693
37
Remifentanil Approved Phase 4,Phase 3,Not Applicable 132875-61-7 60815
38
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 113-45-1 4158
39
Atorvastatin Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 134523-00-5 60823
40
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-78-2 2244
41
Cilostazol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 73963-72-1 2754
42
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 2 58-93-5 3639
43
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
44
Citalopram Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59729-33-8 2771
45
Huperzine A Approved, Experimental Phase 4,Phase 2,Phase 1,Not Applicable 102518-79-6
46
Angiotensin II Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
47
Candesartan cilexetil Approved Phase 4,Phase 2,Phase 3 145040-37-5 2540
48
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-66-6 32051
49
Zonisamide Approved, Investigational Phase 4,Phase 3,Not Applicable 68291-97-4 5734
50
Acetylcarnitine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 3040-38-8 7045767

Interventional clinical trials:

(show top 50) (show all 10444)
# Name Status NCT ID Phase Drugs
1 Low-dose Rifaximin in the Treatment of Covert Hepatic Encephalopathy Unknown status NCT03077217 Phase 4 Rifaximin
2 Metformin Experience on Minimal Hepatic Encephalopathy Unknown status NCT02470546 Phase 4 Metformin;Placebo
3 Primary Prophylaxis of Hepatic Encephalopathy in Patients With Cirrhosis Unknown status NCT01175538 Phase 4 Lactulose;Lactulose
4 Secondary Prophylaxis of Hepatic Encephalopathy in Cirrhosis Unknown status NCT01178372 Phase 4 Lactulose;Probiotics(VSL#3)
5 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
6 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Minimal Encephalopathy Unknown status NCT00896831 Phase 4 L-ornithine-L-aspartate;placebo
7 Trial Comparing Sedation for Endoscopy With Propofol Versus Midazolam in Cirrhotics Unknown status NCT01356121 Phase 4 Propofol;Midazolam
8 Rifaximin Versus Lactulose in Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
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 melatonin;placebo
11 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
12 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
13 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4 herbal drug;placebo
14 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
15 Study About Simvastatin in Portal Hypertension in Compensated Cirrhosis Unknown status NCT01282398 Phase 4 Simvastatin;placebo
16 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
17 Hemodynamic Effect of Simvastatin With Beta Blockers in Clinical Portal Hypertension Unknown status NCT01282385 Phase 4 Simvastatin;placebo
18 The Effect of Carvedilol VS Endoscopic Therapy in Primary Prophylaxis of High-risk Esophageal Gastric Variceal Bleeding Unknown status NCT02695732 Phase 4 Carvedilol
19 Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis Unknown status NCT01438437 Phase 4
20 The Effect of Carvedilol Vs Propranolol in Cirrhotic Patients With Variceal Bleeding Unknown status NCT02385422 Phase 4 Carvedilol;Propranolol
21 The Effect of Branched-chain Amino Acid on the Improvement of Serum Albumin Level in Cirrhotic Patients With Ascites Unknown status NCT02755701 Phase 4 Branched-chain Amino Acid;Placebo
22 Magnetic Stimulation as a Treatment for Auditory Hallucinations in Schizophrenia Unknown status NCT00186771 Phase 4
23 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Unknown status NCT02900755 Phase 4 Perampanel
24 Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy Unknown status NCT02726919 Phase 4 Clobazam
25 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
26 Evaluation of Onfi Conversion Therapy Replacing Clonazepam in Patients With Medically Refractory Epilepsy Unknown status NCT01932502 Phase 4 clobazam (Onfi);Initial conversion and titration;Conversion schedule - Week 1;Conversion schedule - Week 2;Conversion schedule - Week 3
27 NIMIP: Non Invasive Measurement of the Intracranial Pressure Unknown status NCT01685450 Phase 4
28 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
29 Hormone Profiles in Adults With Newly Diagnosed Epilepsy Unknown status NCT00137709 Phase 4 Sodium valproate;Lamotrigine
30 Study to Improve the Treatment of Epilepsy (SITE) Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
31 Consequence of Dexmedetomidine on Emergence Deliruim After Sevoflurane Anesthesia in Children With Cerebral Palsy Unknown status NCT02244515 Phase 4 dexmedetomidine
32 Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote Unknown status NCT00312676 Phase 4
33 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
34 The CAPTAIN Trial: Cerebrolysin Asian Pacific Trial in Acute Brain Injury and Neurorecovery Unknown status NCT01606111 Phase 4 Cerebrolysin;0.9% NaCl, saline
35 Effect of Rozerem on Sleep Among People With Traumatic Brain Injury Unknown status NCT01207050 Phase 4 Ramelteon
36 Migraine Prophylaxis With Clopidogrel Trial Unknown status NCT02938182 Phase 4 clopidogrel
37 GON-block in Chronic Migraine: a Randomized, Double- Blind, Placebo-controlled Study Unknown status NCT02686983 Phase 4 Betamethasone and local anesthetic
38 The Combined Effects of omega3 Fatty Acids and Curcumin Supplementation on Inflammatory and Endothelial Factors in Migraine Patients Unknown status NCT02532023 Phase 4
39 Occipital Transcutaneous Stimulation in Chronic Migraine Unknown status NCT02307071 Phase 4
40 Preventive Treatment of Episodic and Chronic Migraine Unknown status NCT01319825 Phase 4 milnacipran
41 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
42 American Migraine Prevention Study Unknown status NCT00363506 Phase 4
43 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
44 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
45 The Effect of Dexmedetomidine to Cognition of Geriatrics in Prolonged Surgery Unknown status NCT02123355 Phase 4 Induction of anesthesia;Sevoflurane, remifentanil ,vecuronium;Dexmedetomidine;Placebo
46 Methylphenidate for Attention Problems After Pediatric TBI Unknown status NCT01933217 Phase 4 Methylphenidate;Placebo
47 Effects of Cerebrolysin Combined With Rehabilitation on Motor Recovery in Stroke Unknown status NCT02768571 Phase 4 Cerebrolysin;Placebo
48 Effectiveness and Safety of Yiqitongluo Granule for Stroke Unknown status NCT02604654 Phase 4 Yiqitongluo granule
49 The Safety and Efficacy Study of High Dose Atorvastatin After Thrombolytic Treatment in Acute Ischemic Stroke Unknown status NCT02452502 Phase 4
50 4-point vs 4-roll Canne as Walking Aids After Stroke Unknown status NCT02279069 Phase 4

Search NIH Clinical Center for Encephalopathy

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Genetic Tests for Encephalopathy

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Genetic tests related to Encephalopathy:

# Genetic test Affiliating Genes
1 Encephalopathy 30
Sources

Anatomical Context for Encephalopathy

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MalaCards organs/tissues related to Encephalopathy:

42
Brain, Liver, Testes, Bone, Pituitary, Heart, Cortex
Sources

Publications for Encephalopathy

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Articles related to Encephalopathy:

(show top 50) (show all 10650)
# Title Authors Year
1
The Neonatal Acute Bilirubin Encephalopathy Registry (NABER): Background, Aims, and Protocol. ( 30669144 )
2019
2
Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Associated With Adenoviral Pneumonia. ( 30783608 )
2019
3
Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study. ( 30862409 )
2019
4
Reversible encephalopathy syndrome in acute porphyria attack. ( 30871823 )
2019
5
Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome. ( 30692772 )
2019
6
A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype. ( 30767894 )
2019
7
Percutaneous transvenous shunt occlusion for portosystemic encephalopathy due to lenvatinib administration to a patient with hepatocellular carcinoma and portosystemic shunt. ( 30706429 )
2019
8
Starvation-induced diplopia and weakness: a case of beriberi and Wernicke's encephalopathy. ( 30610031 )
2019
9
Dry Beriberi Due to Thiamine Deficiency Associated with Peripheral Neuropathy and Wernicke's Encephalopathy Mimicking Guillain-Barré syndrome: A Case Report and Review of the Literature. ( 30862772 )
2019
10
Abrogated Caveolin-1 expression via histone modification enzyme Setdb2 regulates brain edema in a mouse model of influenza-associated encephalopathy. ( 30670717 )
2019
11
Neurological Complications Occurring after Liver Transplantation: Role of Risk Factors, Hepatic Encephalopathy, and Acute (on Chronic) Brain Injury. ( 30697911 )
2019
12
Pattern of Brain Injury Predicts Long-Term Epilepsy Following Neonatal Encephalopathy. ( 30642234 )
2019
13
Dried blood spot compared to plasma measurements of blood-based biomarkers of brain injury in neonatal encephalopathy. ( 30661082 )
2019
14
STXBP1 encephalopathy is associated with awake bruxism. ( 30654231 )
2019
15
Motor performance and cognitive correlates in children cooled for neonatal encephalopathy without cerebral palsy at school age. ( 30883895 )
2019
16
Acceptance and identity change: An interpretative phenomenological analysis of carers' experiences in myalgic encephalopathy/chronic fatigue syndrome. ( 30895822 )
2019
17
Raccoons accumulate PrPSc after intracranial inoculation of the agents of chronic wasting disease or transmissible mink encephalopathy but not atypical scrapie. ( 30694116 )
2019
18
An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. ( 30409087 )
2019
19
Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease. ( 30646848 )
2019
20
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. ( 30709877 )
2019
21
The relationship between neonatal encephalopathy and maternal postpartum depression. ( 30651011 )
2019
22
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review. ( 30637540 )
2019
23
Effect of the APP17 peptide on diabetic encephalopathy. ( 30693738 )
2019
24
Diabetic encephalopathy: beneficial effects of supplementation with fatty acids ω3 and nordihydroguaiaretic acid in a spontaneous diabetes rat model. ( 30736810 )
2019
25
Role of Hippocampal Lipocalin-2 in Experimental Diabetic Encephalopathy. ( 30761088 )
2019
26
Metronidazole-induced encephalopathy during treatment for refractory diarrhea after cord blood transplantation. ( 30835083 )
2019
27
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. ( 30323019 )
2019
28
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. ( 30602030 )
2019
29
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. ( 30626896 )
2019
30
Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23. ( 30807315 )
2019
31
Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23. ( 30807358 )
2019
32
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. ( 30853297 )
2019
33
Posterior reversible encephalopathy syndrome associated with reversible cerebral vasoconstriction syndrome in a patient presenting with postpartum eclampsia: a case report. ( 30905853 )
2019
34
Influential factors and clinical significance of an atypical presentation of posterior reversible encephalopathy syndrome in patients with eclampsia. ( 30478719 )
2019
35
A nationwide survey of norovirus-associated encephalitis/encephalopathy in Japan. ( 30798941 )
2019
36
Rhinovirus-associated acute encephalitis/encephalopathy and cerebellitis. ( 30850156 )
2019
37
To what extent can clinical characteristics be used to distinguish encephalitis from encephalopathy of other causes? Results from a prospective observational study. ( 30669985 )
2019
38
Computed diffusion-weighted imaging for acute pediatric encephalitis/encephalopathy. ( 30674215 )
2019
39
Prognostic significance of minimal hepatic encephalopathy in patients with liver cirrhosis in Japan: a propensity score-matching analysis. ( 30779213 )
2019
40
The role of impaired brain perfusion in septic encephalopathy. ( 30782168 )
2019
41
Reversible encephalopathy caused by an inborn error of cobalamin metabolism. ( 30782345 )
2019
42
Correction: The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study. ( 30785958 )
2019
43
Erythropoietin in perinatal hypoxic-ischemic encephalopathy: a systematic review and meta-analysis. ( 30789826 )
2019
44
Establishment and utility assessment of posterior reversible encephalopathy syndrome early warning scoring (PEWS) scale establishment and utility assessment of PEWS scale. ( 30791893 )
2019
45
Functional Connectivity in Term Neonates With Hypoxic-Ischemic Encephalopathy Undergoing Therapeutic Hypothermia. ( 30792031 )
2019
46
Nationwide survey of influenza-associated acute encephalopathy in Japanese adults. ( 30798106 )
2019
47
Encephalopathy Induced by High Plasma and Cerebrospinal Fluid Ceftriaxone Concentrations in a Hemodialysis Patient. ( 30799339 )
2019
48
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. ( 30801875 )
2019
49
Acute encephalopathy with brain swelling. ( 30803731 )
2019
50
Severe Encephalopathy, Lactic Acidosis and Hyperammonaemia With FOLFIRI Plus Aflibercept After Two-stage Hepatectomy: A Case Report. ( 30804142 )
2019
Sources

Variations for Encephalopathy

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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 rs1555755308 GRCh37 Chromosome 19, 41858817: 41858817
16 TGFB1 NM_000660.6(TGFB1): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs1555755308 GRCh38 Chromosome 19, 41352912: 41352912
17 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs1555755242 GRCh38 Chromosome 19, 41352717: 41352717
18 TGFB1 NM_000660.6(TGFB1): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs1555755242 GRCh37 Chromosome 19, 41858622: 41858622
19 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic rs1336387628 GRCh37 Chromosome 19, 41836971: 41836971
20 TGFB1 NM_000660.6(TGFB1): c.1159T> C (p.Cys387Arg) single nucleotide variant Pathogenic rs1336387628 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
Sources

Expression for Encephalopathy

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Search GEO for disease gene expression data for Encephalopathy.
Sources

Pathways for Encephalopathy

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Pathways related to Encephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.56 GNAO1 MECP2 PRNP SCN1A STXBP1
2
Glypican 1 network 1
10.37 PRNP TGFB1
Sources

GO Terms for Encephalopathy

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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 DENND5A DNM1L FRRS1L GNAO1 NECAP1
2 mitochondrion GO:0005739 9.7 DNM1L ETHE1 MECP2 RANBP2 SERAC1 SLC25A22
3 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 9.56 CDKL5 DNM1L GNAO1 RANBP2
2 neuromuscular process controlling posture GO:0050884 9.16 MECP2 SCN1A
3 negative regulation of interleukin-17 production GO:0032700 8.96 PRNP TGFB1
4 regulation of glutamate receptor signaling pathway GO:1900449 8.62 FRRS1L PRNP

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 MECP2 STXBP1 TGFB1
2 protein-containing complex binding GO:0044877 8.92 DNM1L GNAO1 PRNP RANBP2
Sources

Sources for Encephalopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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