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MCID: AKN002
MIFTS: 35

Akinetic Mutism

Categories: Neuronal diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Akinetic Mutism

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MalaCards integrated aliases for Akinetic Mutism:

Name: Akinetic Mutism 12 54 43 15 17 71
Coma Vigilans 12

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:4267
MeSH 43 D000405
SNOMED-CT 67 5124002 53333005
UMLS 71 C0001889
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Summaries for Akinetic Mutism

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Disease Ontology : 12 A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.

MalaCards based summary : Akinetic Mutism, also known as coma vigilans, is related to mutism and traumatic brain injury. An important gene associated with Akinetic Mutism is SLC6A3 (Solute Carrier Family 6 Member 3), and among its related pathways/superpathways is Neuroscience. The drugs carbamide peroxide and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are nervous system and taste/olfaction

Wikipedia : 74 Akinetic mutism is a medical term describing patients tending neither to move (akinesia) nor speak... more...

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Related Diseases for Akinetic Mutism

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 mutism 30.8 TXNDC9 TARDBP SLC6A3 PRNP MAPT
2 traumatic brain injury 30.5 S100B MBP ENO2
3 hydrocephalus 30.4 SLC6A3 S100B MBP MAPT ENO2
4 encephalomalacia 30.4 S100B MBP
5 papilloma of choroid plexus 30.3 S100B ENO2
6 toxic encephalopathy 30.3 SLC6A3 PRNP MAPT
7 brain injury 30.2 S100B MBP MAPT ENO2
8 nominal aphasia 30.2 TARDBP MAPT
9 pseudobulbar palsy 30.0 TARDBP PRNP
10 creutzfeldt-jakob disease 30.0 SLC6A3 S100B PRNP MAPT ENO2
11 dysgraphia 30.0 TARDBP MAPT
12 aphasia 29.9 TARDBP PRNP MAPT
13 supranuclear palsy, progressive, 1 29.4 TARDBP SLC6A3 PRNP MAPT
14 dementia 29.4 TARDBP SLC6A3 PRNP MAPT
15 agraphia 29.4 TARDBP PRNP PNMA2 MAPT
16 prion disease 29.0 TXNDC9 TARDBP PRNP MAPT ENO2
17 obstructive hydrocephalus 10.6
18 ocular motor apraxia 10.5
19 locked-in syndrome 10.4
20 cerebral artery occlusion 10.4
21 encephalopathy 10.4
22 neonatal hypoxic and ischemic brain injury 10.4 MBP ENO2
23 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3
24 anterior cerebral artery infarction 10.3
25 subacute delirium 10.3
26 striatonigral degeneration 10.3 SLC6A3 MBP
27 gerstmann syndrome 10.3 PRNP MAPT
28 simultanagnosia 10.3 TXNDC9 MAPT
29 intracranial cysts 10.3 S100B ENO2
30 bednar tumor 10.3 S100B ENO2
31 head injury 10.2 S100B ENO2
32 meningeal melanocytoma 10.2 S100B ENO2
33 papillary ependymoma 10.2 S100B ENO2
34 thrombophilia due to thrombin defect 10.2
35 stroke, ischemic 10.2
36 meningioma, radiation-induced 10.2
37 meningioma, familial 10.2
38 thrombosis 10.2
39 spinal meningioma 10.2
40 secretory meningioma 10.2
41 lymphoplasmacyte-rich meningioma 10.2
42 cerebrovascular disease 10.2
43 encephalitis 10.2
44 pineocytoma 10.2 S100B ENO2
45 post-cardiac arrest syndrome 10.2 S100B ENO2
46 ossifying fibromyxoid tumor 10.2 S100B ENO2
47 extraosseous ewing sarcoma 10.2 S100B ENO2
48 acute mountain sickness 10.2 S100B ENO2
49 middle cerebral artery infarction 10.2 S100B ENO2
50 subleukemic leukemia 10.2 S100B ENO2

Graphical network of the top 20 diseases related to Akinetic Mutism:



Diseases related to Akinetic Mutism
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Symptoms & Phenotypes for Akinetic Mutism

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MGI Mouse Phenotypes related to Akinetic Mutism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 CTSF ENO2 MAPT MARCKSL1 MBP PRNP
2 taste/olfaction MP:0005394 8.8 ENO2 MAPT SLC6A3
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Drugs & Therapeutics for Akinetic Mutism

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
3
Calcium Approved, Nutraceutical 7440-70-2 271
4
Aspartic acid Approved, Nutraceutical 56-84-8 5960
5 Hematinics
6 Liver Extracts
7 Anesthetics
8 N-Methylaspartate
9 Calcium, Dietary
10
Bilirubin 635-65-4, 69853-43-6 5280352 21252250
11 Immunosuppressive Agents
12 Immunologic Factors
13 Calcineurin Inhibitors
14
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vagus Nerve Stimulation in Patients With Chronic Consciousness Disorders Recruiting NCT02591069
2 Evaluation of Preoperative and Postoperative S100β and Neuron Specific Enolase Levels in Patients Undergoing Liver Transplantation Recruiting NCT03453047
3 Perioperative Optic Nerve Sheath Diameter As A Predictor Of Early Tacrolimus Neurotoxicity In Living Donor Liver Transplantation Recruiting NCT03799770
4 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism Not yet recruiting NCT04100863

Search NIH Clinical Center for Akinetic Mutism

Cochrane evidence based reviews: akinetic mutism

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Genetic Tests for Akinetic Mutism

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Anatomical Context for Akinetic Mutism

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MalaCards organs/tissues related to Akinetic Mutism:

40
Brain, Eye, Liver, Thalamus, T Cells, Cortex, Lung
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Publications for Akinetic Mutism

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Articles related to Akinetic Mutism:

(show top 50) (show all 488)
# Title Authors PMID Year
1
Leukoencephalopathy induced by tegafur: serial studies of somatosensory evoked potentials and cerebrospinal fluid. 54 61
1382734 1992
2
Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy. 61
31925842 2020
3
Autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease with spongiform changes of the cerebral cortex. 61
31515858 2019
4
Clinical Presentation of Sporadic Creutzfeldt-Jakob Disease in Han-Chinese. 61
31651418 2019
5
Akinetic mutism and status epilepticus due to Epstein Barr virus encephalitis. 61
31470359 2019
6
Probable progressive multifocal leukoencephalopathy-immune reconstitution inflammatory syndrome with immunosuppressant dose reduction following lung transplantation: a case report and literature review. 61
31672142 2019
7
Why do neurologists miss catatonia in neurology emergency? A case series and brief literature review. 61
31147176 2019
8
THK5351 and flortaucipir PET with pathological correlation in a Creutzfeldt-Jakob disease patient: a case report. 61
31464590 2019
9
Autopsied case of sporadic Creutzfeldt-Jakob disease classified as MM1+2C-type. 61
31062411 2019
10
Rapidly progressive miliary brain metastasis of lung cancer after EGFR tyrosine kinase inhibitor discontinuation: An autopsy report. 61
30868686 2019
11
Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration. 61
30850568 2019
12
An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. 61
30409087 2019
13
Cingulate-basal ganglia-thalamo-cortical aspects of catatonia and implications for treatment. 61
31731912 2019
14
Autopsy case of V180I genetic Creutzfeldt-Jakob disease presenting with early disease pathology. 61
30216556 2018
15
Evaluating the causality of novel sequence variants in the prion protein gene by example. 61
29861043 2018
16
Lesion network localization of free will. 61
30275309 2018
17
The Electroencephalogram Speaks for the Patient: Identification and Treatment of Akinetic Mutism With Comorbid Delirium. 61
29249557 2018
18
Atypical presentation of probable Creutzfeldt-Jakob disease associated with anti-Zic4 antibody: Literature review of neuronal antibodies in Creutzfeldt-Jakob disease. 61
29525731 2018
19
Epilepsia Partialis Continua as the First Presenting Symptom in Probable Sporadic Creutzfeldt-Jacob Disease: A Case Report and Literature Review. 61
30140219 2018
20
A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1. 61
29509064 2018
21
Akinetic mutism and the story of David. 61
28150524 2018
22
Akinetic mutism following prefrontal injury by an electrical grinder a case report: A diffusion tensor tractography study. 61
29419694 2018
23
Neurologic Complications of Transplantation. 61
28251577 2018
24
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature. 61
29304167 2018
25
An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt-Jakob Disease. 61
30345127 2018
26
Predictive Factors for Early Initiation of Artificial Feeding in Patients With Sporadic Creutzfeldt-Jakob Disease. 61
30018588 2018
27
An autopsy case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction. 61
28703419 2017
28
Recovery of akinetic mutism and injured prefronto-caudate tract following shunt operation for hydrocephalus and rehabilitation: A case report. 61
29390310 2017
29
Clinical findings of a probable case of MM2-cortical-type sporadic Creutzfeldt-Jakob disease with antibodies to anti-N-terminus of α-enolase. 61
28967811 2017
30
MM1-type sporadic Creutzfeldt-Jakob disease with 1-month total disease duration and early pathologic indicators. 61
28402042 2017
31
Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis. 61
28962210 2017
32
Successful combination immunotherapy of anti-gamma aminobutyric acid (GABA)A receptor antibody-positive encephalitis with extensive multifocal brain lesions. 61
28740064 2017
33
Serotonin Syndrome Following Combined Administration of Dopaminergic and Noradrenergic Agents in a Patient With Akinetic Mutism After Frontal Intracerebral Hemorrhage: A Case Report. 61
28622210 2017
34
A method for safely resecting anterior butterfly gliomas: the surgical anatomy of the default mode network and the relevance of its preservation. 61
27636183 2017
35
A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis? 61
28680785 2017
36
Gastrostomy in patients with prion disease. 61
28509623 2017
37
Creutzfeldt-Jakob disease. 61
28028861 2017
38
Akinetic mutism revealing an ischemic stroke. 61
27955795 2017
39
Akinetic mutism reversibility after L-dopa therapy in unilateral left anterior cerebral artery infarction. 61
28447507 2017
40
Isolated language impairment as the primary presentation of sporadic Creutzfeldt Jakob Disease. 61
27072062 2017
41
[Patient with Creutzfeld-Jakob disease - a case report]. 61
28258683 2017
42
An autopsied case of MM1 + MM2-cortical with thalamic-type sporadic Creutzfeldt-Jakob disease presenting with hyperintensities on diffusion-weighted MRI before clinical onset. 61
27436355 2017
43
Akinetic mutism in a patient with acute infarcts in the bilateral substantia nigra. 61
28131224 2017
44
Akinetic mutism in a patient with mild traumatic brain injury: A diffusion tensor tractography study. 61
28406325 2017
45
Recovery of an injured prefronto-caudate tract in a patient with traumatic brain injury: A diffusion tensor tractography study. 61
28956643 2017
46
[Bromocriptine: could it be the cure for post-surgical akinetic mutism?] 61
28075000 2017
47
MRI and clinical manifestations of delayed encephalopathy after carbon monoxide poisoning. 61
28167472 2016
48
An autopsy-verified case of FTLD-TDP type A with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease. 61
27929803 2016
49
Sporadic Creutzfeldt-Jakob disease with unusual initial presentation as posterior reversible encephalopathy syndrome: a case report. 61
27876002 2016
50
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD. 61
27668283 2016
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Variations for Akinetic Mutism

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Expression for Akinetic Mutism

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Search GEO for disease gene expression data for Akinetic Mutism.
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Pathways for Akinetic Mutism

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Pathways related to Akinetic Mutism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.63 TARDBP S100B PRNP MBP MAPT ENO2
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GO Terms for Akinetic Mutism

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Cellular components related to Akinetic Mutism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.33 SLC6A3 PRNP MAPT
2 neuronal cell body GO:0043025 9.02 SLC6A3 S100B MBP MAPT ENO2
3 anchored component of external side of plasma membrane GO:0031362 8.96 PRNP IZUMO1R

Biological processes related to Akinetic Mutism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron death GO:1901216 8.62 PRNP MAPT

Molecular functions related to Akinetic Mutism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase 2A binding GO:0051721 8.96 SLC6A3 MAPT
2 protease binding GO:0002020 8.8 SLC6A3 PRNP MBP
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Sources for Akinetic Mutism

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