MCID: AKN002
MIFTS: 36

Akinetic Mutism

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Akinetic Mutism

MalaCards integrated aliases for Akinetic Mutism:

Name: Akinetic Mutism 11 53 43 14 16 71 75
Coma Vigilans 11

Classifications:



External Ids:

Disease Ontology 11 DOID:4267
MeSH 43 D000405
SNOMED-CT 68 53333005
UMLS 71 C0001889

Summaries for Akinetic Mutism

Disease Ontology: 11 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 creutzfeldt-jakob disease and mutism. An important gene associated with Akinetic Mutism is SLC6A3 (Solute Carrier Family 6 Member 3), and among its related pathways/superpathways are Neuroscience and Parkinson's disease pathway. Affiliated tissues include brain, thalamus and pons, and related phenotypes are nervous system and normal

Wikipedia: 75 Akinetic mutism is a medical term describing patients tending neither to move (akinesia) nor speak... more...

Related Diseases for Akinetic Mutism

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

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 creutzfeldt-jakob disease 30.7 TXNDC9 TARDBP SNCA S100B PRNP MAPT
2 mutism 30.5 TXNDC9 SLC6A3 PRNP PNMA2 MAPT LGI1
3 parkinsonism 30.4 TARDBP SNCA SLC6A3 MAPT
4 toxic encephalopathy 30.3 SNCA SLC6A3 PRNP MAPT
5 encephalomalacia 30.2 S100B MBP
6 prion disease 30.2 SNCA PRNP MAPT
7 nominal aphasia 30.2 TARDBP SNCA MAPT
8 hydrocephalus 30.2 SNCA SLC6A3 S100B MBP MAPT ENO2
9 papilloma of choroid plexus 30.1 S100B ENO2
10 intracranial berry aneurysm 29.9 S100B NEFL ENO2
11 amnestic disorder 29.9 S100B MAPT LGI1
12 status epilepticus 29.7 S100B LGI1 ENO2
13 normal pressure hydrocephalus 29.7 SNCA SLC6A3 NEFL MAPT
14 pseudobulbar palsy 29.6 TARDBP SNCA PRNP MAPT
15 lingual-facial-buccal dyskinesia 29.6 SLC6A3 PNMA2 LGI1
16 agraphia 29.5 TARDBP SLC6A3 PRNP MBP MAPT
17 aphasia 29.5 TARDBP SNCA PRNP NEFL MAPT
18 speech disorder 29.3 TARDBP SLC6A3 MAPT LGI1
19 supranuclear palsy, progressive, 1 29.0 TARDBP SNCA SLC6A3 PRNP NEFL MAPT
20 dementia, lewy body 29.0 TARDBP SNCA SLC6A3 PRNP NEFL MAPT
21 speech and communication disorders 28.4 TARDBP SNCA SLC6A3 PRNP NEFL MAPT
22 movement disease 28.4 TARDBP SNCA SLC6A3 PRNP NEFL MAPT
23 mast syndrome 11.2
24 iatrogenic creutzfeldt-jakob disease 11.2
25 obstructive hydrocephalus 10.5
26 ocular motor apraxia 10.4
27 locked-in syndrome 10.4
28 encephalopathy 10.4
29 cerebral artery occlusion 10.3
30 subacute delirium 10.3
31 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3
32 hemorrhage, intracerebral 10.3
33 anterior cerebral artery infarction 10.3
34 central pontine myelinolysis 10.3
35 neonatal hypoxic and ischemic brain injury 10.3 MBP ENO2
36 pineocytoma 10.2 S100B ENO2
37 spinocerebellar ataxia 45 10.2 PRNP ENO2
38 parkinson disease 4, autosomal dominant 10.2 SNCA SLC6A3
39 post-cardiac arrest syndrome 10.2 S100B ENO2
40 vascular parkinsonism 10.2 SNCA SLC6A3
41 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.2 PRNP MAPT
42 glioma susceptibility 1 10.2
43 thrombophilia due to thrombin defect 10.2
44 meningioma, familial 10.2
45 traumatic brain injury 10.2
46 asphyxia neonatorum 10.2 S100B ENO2
47 impulse control disorder 10.2 SNCA SLC6A3
48 arachnoiditis 10.1 NEFL MBP
49 chronic wasting disease 10.1 SNCA PRNP
50 cutaneous fibrous histiocytoma 10.1 S100B ENO2

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



Diseases related to Akinetic Mutism

Symptoms & Phenotypes for Akinetic Mutism

MGI Mouse Phenotypes related to Akinetic Mutism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 ENO2 LGI1 MAPT MBP NEFL PRNP
2 normal MP:0002873 9.8 MAPT MBP NEFL PRNP S100B SLC6A3
3 behavior/neurological MP:0005386 9.65 ENO2 LGI1 MAPT MBP NEFL PRNP
4 taste/olfaction MP:0005394 8.92 ENO2 MAPT SLC6A3 SNCA

Drugs & Therapeutics for Akinetic Mutism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vagus Nerve Stimulation in Patients With Chronic Consciousness Disorders Unknown status NCT02591069
2 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism Recruiting NCT04100863

Search NIH Clinical Center for Akinetic Mutism

Cochrane evidence based reviews: akinetic mutism

Genetic Tests for Akinetic Mutism

Anatomical Context for Akinetic Mutism

Organs/tissues related to Akinetic Mutism:

MalaCards : Brain, Thalamus, Pons, Cingulate Cortex, Parietal Lobe, Cortex, Pineal

Publications for Akinetic Mutism

Articles related to Akinetic Mutism:

(show top 50) (show all 538)
# Title Authors PMID Year
1
Leukoencephalopathy induced by tegafur: serial studies of somatosensory evoked potentials and cerebrospinal fluid. 53 62
1382734 1992
2
A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom. 62
34965177 2022
3
Parkinsonism with akinetic mutism following osmotic demyelination syndrome in a SARS-CoV-2 infected elderly diabetic woman: A case report. 62
34785833 2022
4
Parkinsonism with akinetic mutism following osmotic demyelination syndrome in a SARS-CoV-2 infected elderly diabetic woman: A case report. 62
36195379 2022
5
Encephalopathy With Akinetic Mutism in a Child With COVID-19 Infection: A Case Report. 62
36301657 2022
6
Clinical Reasoning: A Case of Acute Akinetic Mutism and Encephalopathy. 62
36008149 2022
7
Demographic Features, Physical Examination Findings, and Medication Use in Hospitalized, Delirious Patients With and Without COVID-19 Infection: A Retrospective Study. 62
35948255 2022
8
An autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings. 62
35441383 2022
9
Creutzfeldt-Jakob disease presenting with bilateral hearing loss: A case report. 62
35949824 2022
10
[A case of Creutzfeldt-Jakob disease presenting with nonconvulsive status epilepticus in the early stages]. 62
35474283 2022
11
Prognostic Features of Sporadic Creutzfeldt-Jakob Disease: An Analysis of Taiwan's Nationwide Surveillance. 62
34492219 2022
12
Tacrolimus-induced Central Pontine Myelinolysis in a Pediatric Liver Transplant Recipient. 62
35535097 2022
13
Global Rostral Midbrain Syndrome (GRMS) and Corpus callosum infarction in the context of shunt overdrainage. 62
34973650 2022
14
A Review of Studies on the Role of Diffusion Tensor Magnetic Resonance Imaging Tractography in the Evaluation of the Fronto-Subcortical Circuit in Patients with Akinetic Mutism. 62
35181647 2022
15
Combination of asleep and awake craniotomy as a novel strategy for resection in patients with butterfly glioblastoma: Two case reports. 62
36447874 2022
16
Clinically reversible ustekinumab-induced encephalopathy: case report and review of the literature. 62
35237349 2022
17
Differential Diagnosis of Akinetic Mutism and Disorder of Consciousness Using Diffusion Tensor Tractography: A Case Report. 62
35280207 2022
18
Letter to the Editor: Depression As The First Symptom Of Frontal Lobe Grade 2 Malignant Glioma. 62
35730515 2022
19
Possible Tacrolimus-Related Neuropsychiatric Symptoms: One Year After Allogeneic Hematopoietic Cell Transplantation: A Case Report. 62
35342316 2022
20
Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia. 62
35812092 2022
21
System degeneration in an MM1-type sporadic Creutzfeldt-Jakob disease case with an unusually prolonged akinetic mutism state. 62
33472525 2021
22
Long-term preservation of pharyngeal swallowing function in MM2-cortical-type sporadic Creutzfeldt-Jakob disease. 62
34078217 2021
23
Delayed Toxic-Hypoxic Leukoencephalopathy As Sequela of Opioid Overdose and Cerebral Hypoxia-Ischemia. 62
35004070 2021
24
Akinetic Mutism and Coronavirus Disease 2019: A Narrative Review. 62
34461295 2021
25
Retrospective evaluation of endoscopic treatment in colloid cyst of the third ventricle. 62
34691312 2021
26
Central and peripheral nervous system complications of COVID-19: a prospective tertiary center cohort with 3-month follow-up. 62
33438076 2021
27
[Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease]. 62
33159724 2021
28
Akinetic mutism in COVID-19-related encephalopathy: A cytokine-mediated maladaptive sickness behavioral response? 62
34002170 2021
29
Akinetic mutism reversed by inferior parietal lobule repetitive theta burst stimulation: Can we restore default mode network function for therapeutic benefit? 62
34145791 2021
30
Appearance of bitemporal periodic EEG activity in the last stage of Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu): A case report. 62
33774505 2021
31
Brain dysfunction in COVID-19 and CAR-T therapy: cytokine storm-associated encephalopathy. 62
33780166 2021
32
Seizures as onset symptoms and rapid course in preschool children with subacute sclerosing panencephalitis. 62
33543580 2021
33
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications. 62
32524247 2021
34
Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1. 62
33300189 2021
35
Sporadic Creutzfeldt-Jakob disease: a case report of long disease duration and difficulties in confirming the diagnosis with short literature review. 62
34628799 2021
36
The Understanding of Pediatric Akinetic Mutism. 62
33542880 2021
37
Catatonia and Mutism: Neurotic, Psychotic, or Organic Disorder? 62
34745679 2021
38
Analysis of Chinese patients with sporadic Creutzfeldt-Jakob disease. 62
32378453 2020
39
Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. 62
32627665 2020
40
Full recovery of Akinetic Mutism after corpus callosum infarction in post subarachnoid hemorrhage of ruptured distal anterior cerebral artery aneurysm. 62
33459293 2020
41
Prominent Prolongation of Cortical Silent Period Induced by Transcranial Magnetic Stimulation in Creutzfeldt-Jakob Disease. 62
33362525 2020
42
Identification of intracerebral hemorrhage in the early-phase of MM1+2C-type sporadic Creutzfeldt-Jakob disease: A case report. 62
32367540 2020
43
A Novel Low Recurrence Surgical Approach for Medulloblastoma Excision: A Study of 58 cases. 62
34169985 2020
44
Steroid-Responsive Encephalitis in Coronavirus Disease 2019. 62
32418288 2020
45
[A case of hereditary diffuse leukoencephalopathy with spheroids and pigmented glia presenting with long-term mild psychiatric symptoms]. 62
32435043 2020
46
Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy. 62
31925842 2020
47
A Case of Creutzfeldt-Jakob Disease with Stroke-Like Onset. 62
32234269 2020
48
MM2 cortical form of sporadic Creutzfeldt-Jakob disease without progressive dementia and akinetic mutism: A case deviating from current diagnostic criteria. 62
32114028 2020
49
On the pathophysiology and treatment of akinetic mutism. 62
32044373 2020
50
An unusual presentation of sporadic Creutzfeldt-Jakob disease. 62
32219420 2020

Variations for Akinetic Mutism

Expression for Akinetic Mutism

Search GEO for disease gene expression data for Akinetic Mutism.

Pathways for Akinetic Mutism

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

# Super pathways Score Top Affiliating Genes
1 11.76 TARDBP SNCA S100B PRNP NEFL MBP
2 10.74 SNCA SLC6A3
3 10.37 SNCA SLC6A3

GO Terms for Akinetic Mutism

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

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.76 SLC6A3 PRNP MAPT ENO2
2 inclusion body GO:0016234 9.56 SNCA PRNP
3 growth cone GO:0030426 9.56 SNCA NEFL MAPT ENO2
4 neuronal cell body GO:0043025 9.36 SNCA SLC6A3 S100B MBP MAPT ENO2

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

# Name GO ID Score Top Affiliating Genes
1 protein polymerization GO:0051258 9.73 NEFL MAPT
2 supramolecular fiber organization GO:0097435 9.71 SNCA MAPT
3 axonal transport of mitochondrion GO:0019896 9.67 NEFL MAPT
4 axon development GO:0061564 9.65 NEFL MAPT
5 learning or memory GO:0007611 9.65 S100B PRNP MAPT
6 positive regulation of synaptic transmission GO:0050806 9.63 SNCA LGI1
7 dopamine biosynthetic process GO:0042416 9.62 SLC6A3 SNCA
8 dopamine uptake involved in synaptic transmission GO:0051583 9.46 SNCA SLC6A3
9 positive regulation of neuron death GO:1901216 9.43 SNCA PRNP MAPT
10 amyloid fibril formation GO:1990000 9.1 TARDBP SNCA MAPT

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10 TARDBP SNCA S100B PRNP NEFL MAPT
2 protein-containing complex binding GO:0044877 9.92 SLC6A3 PRNP NEFL ENO2
3 molecular condensate scaffold activity GO:0140693 9.56 TARDBP PRNP
4 protease binding GO:0002020 9.43 SLC6A3 PRNP MBP
5 cuprous ion binding GO:1903136 8.92 SNCA PRNP

Sources for Akinetic Mutism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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