Aliases & Classifications for Mutism

MalaCards integrated aliases for Mutism:

Name: Mutism 12 29 6 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4189
MeSH 43 D009155
SNOMED-CT 67 88052002
UMLS 71 C0026884

Summaries for Mutism

Disease Ontology : 12 A speech disorder that involves a complete inability to speak.

MalaCards based summary : Mutism is related to akinetic mutism and frontotemporal dementia, and has symptoms including photophobia, restlessness and scanning speech. An important gene associated with Mutism is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways is Neuroscience. The drugs Fluoxetine and Serotonin Uptake Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and thyroid, and related phenotypes are Increased Sindbis virus (SINV) infection and Increased Sindbis virus (SINV) infection

Related Diseases for Mutism

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

(show top 50) (show all 386)
# Related Disease Score Top Affiliating Genes
1 akinetic mutism 33.7 TXNDC9 TARDBP SLC6A3 PRNP MAPT
2 frontotemporal dementia 31.1 TARDBP PRNP MAPT GRN CHMP2B C9orf72
3 apraxia 30.3 SLC6A3 MAPT GRN CNTNAP2 C9orf72
4 autoimmune encephalitis 30.3 LGI1 CNTNAP2
5 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.3 MAPT GRN
6 auditory agnosia 30.1 PRNP LGI1
7 pseudobulbar palsy 30.1 TARDBP PRNP CHMP2B C9orf72
8 oppositional defiant disorder 30.0 SLC6A3 LXN CGAS
9 pervasive developmental disorder 29.9 SLC9A6 SLC6A3 GRIN2A CNTNAP2
10 speech disorder 29.7 TARDBP MAPT GRN GRIN2A CNTNAP2 C9orf72
11 phobia, specific 29.7 NBAS LXN CGAS
12 separation anxiety disorder 29.6 SLC6A3 NBAS LXN CGAS
13 nominal aphasia 29.6 TARDBP MAPT GRN CHMP2B C9orf72
14 toxic encephalopathy 29.5 SLC6A3 PRNP MAPT GRIN2A
15 obsessive-compulsive disorder 29.5 SLC6A3 GRIN2A CNTNAP2 C9orf72
16 aphasia 29.4 TARDBP PRNP MAPT GRN GRIN2A CHMP2B
17 aceruloplasminemia 29.4 SLC6A3 PRNP MAPT CNTNAP2 C9orf72 ATP1A3
18 dysgraphia 29.3 TARDBP MAPT GRN CHMP2B C9orf72
19 prion disease 29.3 TXNDC9 TARDBP PRNP MAPT
20 agraphia 29.2 TARDBP PRNP MAPT GRN C9orf72
21 movement disease 29.0 TARDBP SLC6A3 MAPT C9orf72 ATP1A3
22 speech and communication disorders 28.9 TARDBP MAPT LGI1 GRN GRIN2A CNTNAP2
23 cortical deafness 28.9 TXNDC9 PRNP MAPT LGI1 ATP1A3
24 dystonia 28.9 SLC6A3 GRN GRIN2A CHMP2B C9orf72 ATP1A3
25 supranuclear palsy, progressive, 1 28.8 TARDBP SLC6A3 PRNP MAPT GRN CHMP2B
26 dementia 28.8 TARDBP SLC6A3 PRNP MAPT GRN CHMP2B
27 epilepsy 28.5 SLC9A6 SLC6A3 MAPT LGI1 GRIN2A CNTNAP2
28 elective mutism 12.9
29 central pontine myelinolysis 11.5
30 frontotemporal dementia, chromosome 3-linked 11.2
31 syndromic x-linked intellectual disability 12 11.2
32 7q11.23 duplication syndrome 11.2
33 short stature deafness neutrophil dysfunction 11.2
34 extrapontine myelinolysis 11.2
35 medulloblastoma 10.6
36 social phobia 10.5
37 anxiety 10.5
38 hydrocephalus 10.5
39 autosomal dominant epilepsy with auditory features 10.5 LGI1 CNTNAP2
40 branchiootic syndrome 1 10.4
41 dissociative amnesia 10.4 LGI1 CNTNAP2
42 visual agnosia 10.4 MAPT GRN
43 von economo's disease 10.4 LGI1 CNTNAP2
44 gerstmann syndrome 10.4 PRNP MAPT
45 la crosse encephalitis 10.4 LGI1 CNTNAP2
46 alexia 10.4 MAPT GRN
47 amyotrophic lateral sclerosis type 15 10.4 CHMP2B C9orf72
48 ataxia and polyneuropathy, adult-onset 10.4
49 astrocytoma 10.3
50 amyotrophic lateral sclerosis type 14 10.3 CHMP2B C9orf72

Graphical network of the top 20 diseases related to Mutism:



Diseases related to Mutism

Symptoms & Phenotypes for Mutism

UMLS symptoms related to Mutism:


photophobia, restlessness, scanning speech, personality changes, pseudobulbar behavioral symptoms, sleep disturbances, aphonia

GenomeRNAi Phenotypes related to Mutism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 9.23 C9orf72 CHMP2B LGI1 LXN
2 Increased Sindbis virus (SINV) infection GR00310-A-2 9.23 C9orf72 CHMP2B LGI1 LXN

MGI Mouse Phenotypes related to Mutism:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 ATP1A3 C9orf72 CGAS CNTNAP2 GRIN2A GRN
2 growth/size/body region MP:0005378 10.29 ATP1A3 C9orf72 CNTNAP2 GJB2 GRN LGI1
3 homeostasis/metabolism MP:0005376 10.28 ATP1A3 C9orf72 CGAS GJB2 GRN MAPT
4 mortality/aging MP:0010768 10.22 ATP1A3 C9orf72 CGAS CHMP2B GJB2 GRN
5 hematopoietic system MP:0005397 10.2 ATP1A3 C9orf72 CGAS GRN MAPT MITF
6 immune system MP:0005387 10.18 ATP1A3 C9orf72 CGAS GJB2 GRN MAPT
7 integument MP:0010771 10.18 ATP1A3 C9orf72 CNTNAP2 GJB2 GRIN2A GRN
8 nervous system MP:0003631 10.16 ATP1A3 C9orf72 CHMP2B CNTNAP2 GJB2 GRIN2A
9 no phenotypic analysis MP:0003012 9.81 C9orf72 CGAS GJB2 GRN MAPT MITF
10 vision/eye MP:0005391 9.28 CHMP2B GJB2 GRN LGI1 MAPT MITF
11 taste/olfaction MP:0005394 9.26 CNTNAP2 MAPT SHANK3 SLC6A3

Drugs & Therapeutics for Mutism

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
2 Serotonin Uptake Inhibitors Phase 3
3 Cytochrome P-450 Enzyme Inhibitors Phase 3
4 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
5 Antidepressive Agents Phase 3
6 Serotonin Agents Phase 3
7 Psychotropic Drugs Phase 3
8
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
9
Cycloserine Approved Phase 2 68-41-7 401 6234
10
Carbon monoxide Approved, Investigational Phase 1, Phase 2 630-08-0 281
11 Anti-Infective Agents Phase 2
12 Antitubercular Agents Phase 2
13 Renal Agents Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Anti-Bacterial Agents Phase 2
16 Anti-Infective Agents, Urinary Phase 2
17 Neurotransmitter Agents Phase 1, Phase 2
18 Antimetabolites Phase 1, Phase 2
19
carbamide peroxide Approved 124-43-6
20
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
21
Calcium Approved, Nutraceutical 7440-70-2 271
22
Aspartic acid Approved, Nutraceutical 56-84-8 5960
23 Complement System Proteins
24 Hematinics
25 Liver Extracts
26 N-Methylaspartate
27 Calcium, Dietary
28
Bilirubin 635-65-4, 69853-43-6 5280352 21252250
29 Immunosuppressive Agents
30 Immunologic Factors
31 Calcineurin Inhibitors
32 Anesthetics
33
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Treatment of Childhood Social Phobia Completed NCT00043537 Phase 3 Fluoxetine;Pill Placebo
2 The Use of D-Cycloserine to Augment Intensive Cognitive Behavioral Therapy for Pediatric Obsessive Compulsive Disorder Unknown status NCT01687140 Phase 2 D-Cycloserine;Placebo
3 How to Help When Silence is Not Golden A RCT Study of Selective Mutism Completed NCT01002196 Phase 2
4 A Brief Behavioral Treatment for Anxiety in Young Children Completed NCT02051192 Phase 1, Phase 2
5 Hyperbaric Oxygen for Carbon Monoxide Induced Chronic Encephalopathy Not yet recruiting NCT04118491 Phase 1, Phase 2
6 Effectiveness of Cognitive-Behavioral Therapy for Children With High-Functioning Autism Spectrum Disorder and Anxiety Completed NCT01187784 Phase 1
7 Application of Diffusion Tensor Imaging and Tractography in Pediatric Tumor Surgery Unknown status NCT02810626
8 Effect of rTMS Over the Medial Cerebellum on Negative Symptoms and Cognitive Dysmetria in Subjects With Treatment Refractory Schizophrenia Unknown status NCT02242578
9 Management of Acute Disseminated Encephalomyelitis in Neurology Unit of Assiut University Children Hospital Unknown status NCT03284801
10 Effectiveness of a Web-Based CBT Protocol for Treatment of Selective Mutism in Singapore Completed NCT02009839
11 Long-Term Impact of Posterior Fossa Mutism on Quality of Life Completed NCT02048176
12 Evaluating Intensive Group Behavioral Treatment for Children With Selective Mutism Completed NCT03612102
13 What Treatment Works for Children With Selective Mutism? A Treatment Pilot Study Completed NCT00554749
14 Integrated Behavioral Treatment for Selective Mutism Completed NCT00458198
15 Efficacy of a Group Cognitive Behavioral Therapy Program in the Treatment of Young Children With Social Anxiety Disorder and/or Selective Mutism: A Randomized Controlled Trial Completed NCT02554929
16 Preventing Health Disparities in Hispanic Youth Completed NCT02318745
17 Advanced MRI in Surgery for Posterior Fossa Tumours - Predicting Post-operative Paediatric Cerebellar Mutism Syndrome and Surgical Guidance to Avoid it Recruiting NCT03471026
18 Vagus Nerve Stimulation in Patients With Chronic Consciousness Disorders Recruiting NCT02591069
19 Nordic Study of the Cerebellar Mutism Syndrome in Children With Brain Tumours of the Posterior Fossa Recruiting NCT02300766
20 Evaluation of Preoperative and Postoperative S100β and Neuron Specific Enolase Levels in Patients Undergoing Liver Transplantation Recruiting NCT03453047
21 Comparison of Patient-Centered Versus Provider-Centered Delivery of Cognitive Behavioral Treatment (CBT) for Pediatric Anxiety and Obsessive Compulsive Disorder (OCD) Recruiting NCT03528109
22 Perioperative Optic Nerve Sheath Diameter As A Predictor Of Early Tacrolimus Neurotoxicity In Living Donor Liver Transplantation Recruiting NCT03799770
23 Pilot Study: Functional Imaging of Cerebellar Mutism Syndrome Active, not recruiting NCT01733173
24 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism Not yet recruiting NCT04100863
25 Child's Study of the Distant Impact of Posterior Fossa Injury on Motor Skills, Language, Cognitive Functioning, and Social Cognition - a Combination of Clinical Assessments and Brain Imaging Not yet recruiting NCT04174820
26 Prospective Treatment Study of Catatonia Patients With Right Unilateral Electroconvulsive Treatment (RUL ECT) and Bilateral Electroconvulsive Treatment (BL ECT) Regimens Terminated NCT02734498

Search NIH Clinical Center for Mutism

Cochrane evidence based reviews: mutism

Genetic Tests for Mutism

Genetic tests related to Mutism:

# Genetic test Affiliating Genes
1 Mutism 29

Anatomical Context for Mutism

MalaCards organs/tissues related to Mutism:

40
Brain, Liver, Thyroid, Cerebellum, Testes, Eye, Thalamus

Publications for Mutism

Articles related to Mutism:

(show top 50) (show all 1998)
# Title Authors PMID Year
1
Fluoxetine-related mania in an adolescent girl diagnosed with selective mutism: A case report. 61
31222962 2020
2
Characterizing Posterior Fossa Syndrome: A Survey of Experts. 61
31911026 2020
3
A comparison study assessing neuropsychological outcome of patients with post-operative pediatric cerebellar mutism syndrome and matched controls after proton radiation therapy. 61
31325031 2020
4
Developmental aspects of FXAND in a man with the FMR1 premutation. 61
31899609 2020
5
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. 61
32015180 2020
6
Neuropsychological Profile in Children with Posterior Fossa Tumors with or Without Postoperative Cerebellar Mutism Syndrome (CMS). 61
31832994 2020
7
Neuroanatomy of pediatric postoperative cerebellar cognitive affective syndrome and mutism. 61
32033987 2020
8
Cerebellar mutism after embolization of vermian arteriovenous malformation. 61
31897635 2020
9
Anxiety Disorders in the DSM-5: Changes, Controversies, and Future Directions. 61
32002930 2020
10
Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy. 61
31925842 2020
11
Catatonia as a feature of down syndrome: An under-recognised entity? 61
31959555 2020
12
A comparative study of autistic and non-autistic women's experience of motherhood. 61
31911826 2020
13
The Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (K-SADS-PL) for DSM-5: A validation for neurodevelopmental disorders in Japanese outpatients. 61
31756584 2020
14
Fully-Automated Identification of Imaging Biomarkers for Post-Operative Cerebellar Mutism Syndrome Using Longitudinal Paediatric MRI. 61
31254271 2020
15
Conversations on mutism: risk-stratification for cerebellar mutism based on medulloblastoma subtype. 61
31792531 2019
16
Autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease with spongiform changes of the cerebral cortex. 61
31515858 2019
17
Telovelar surgical approach. 61
31807931 2019
18
Category specific recall in acute stroke: a case with letter speech. 61
31571518 2019
19
A Kyojo's Delirium: Insights into the Inner Mind of a Young Asian Female Patient. 61
31886098 2019
20
Frequency and temporal sequence of clinical features in adults with anti-NMDA receptor encephalitis presenting with psychiatric symptoms. 61
30560745 2019
21
Catatonia with GABAA receptor antibodies. 61
31771952 2019
22
[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl]. 61
31753093 2019
23
Transient mutism, pathological laughter and cerebellar ataxia after primary varicella-zoster virus infection. 61
31704797 2019
24
Clinical Presentation of Sporadic Creutzfeldt-Jakob Disease in Han-Chinese. 61
31651418 2019
25
Probable progressive multifocal leukoencephalopathy-immune reconstitution inflammatory syndrome with immunosuppressant dose reduction following lung transplantation: a case report and literature review. 61
31672142 2019
26
[A case of encephalopathy showing various psychiatric and autonomic symptoms with positive anti-ganglionic acetylcholine receptor (gAChR) antibody]. 61
31564699 2019
27
Stroke in supplementary motor area mimicking functional disorder: a case report. 61
31396688 2019
28
Anxiety in Children with Selective Mutism: A Meta-analysis. 61
31650460 2019
29
Akinetic mutism and status epilepticus due to Epstein Barr virus encephalitis. 61
31470359 2019
30
Away with the fairies: the psychopathology of visionary encounters in early modern Scotland. 61
31603359 2019
31
Pediatric postoperative cerebellar cognitive affective syndrome follows outflow pathway lesions. 61
31527284 2019
32
Variations in Parent and Teacher Ratings of Internalizing, Externalizing, Adaptive Skills, and Behavioral Symptoms in Children with Selective Mutism. 61
31652716 2019
33
Neuroanatomy of pediatric postoperative cerebellar cognitive affective syndrome and mutism. 61
31527286 2019
34
Fears and fear-related cognitions in children with selective mutism. 61
30684088 2019
35
Catatonia in patients with anti-NMDA receptor encephalitis. 61
31115962 2019
36
Why do neurologists miss catatonia in neurology emergency? A case series and brief literature review. 61
31147176 2019
37
Headache, Delirium or Encephalitis? A Case of Residual Mutism Secondary to Anti-NMDA Receptor Encephalitis. 61
31911778 2019
38
Malnutrition-related hyperammonemic encephalopathy presenting with burst suppression: a case report. 61
31399120 2019
39
THK5351 and flortaucipir PET with pathological correlation in a Creutzfeldt-Jakob disease patient: a case report. 61
31464590 2019
40
Intensive group behavioral treatment (IGBT) for children with selective mutism: A preliminary randomized clinical trial. 61
31294589 2019
41
Molecular correlates of cerebellar mutism syndrome in medulloblastoma. 61
31504816 2019
42
Examining a novel, parent child interaction therapy-informed, behavioral treatment of selective mutism. 61
31351241 2019
43
Introduction to the cerebellar mutism syndrome. 61
31399763 2019
44
Catatonia and the immune system: a review. 61
31196793 2019
45
Cerebellar mutism syndrome: current approaches to minimize risk for CMS. 61
31273496 2019
46
Association between postoperative DTI metrics and neurological deficits after posterior fossa tumor resection in children. 61
31323626 2019
47
Posterior fossa syndrome and increased mean diffusivity in the olivary bodies. 61
31349230 2019
48
Cingulate infarction: A neuropsychological and neuroimaging study. 61
31085360 2019
49
Autopsied case of sporadic Creutzfeldt-Jakob disease classified as MM1+2C-type. 61
31062411 2019
50
Pediatric post-operative cerebellar mutism syndrome, cerebellar cognitive affective syndrome, and posterior fossa syndrome: historical review and proposed resolution to guide future study. 61
31240391 2019

Variations for Mutism

ClinVar genetic disease variations for Mutism:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHANK3 NM_033517.1(SHANK3):c.3637dup (p.His1213fs)duplication Pathogenic 397528 rs1555910162 22:51159897-51159898 22:50721469-50721470

Expression for Mutism

Search GEO for disease gene expression data for Mutism.

Pathways for Mutism

Pathways related to Mutism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 TARDBP SHANK3 PRNP MAPT GRIN2A CNTNAP2

GO Terms for Mutism

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

# Name GO ID Score Top Affiliating Genes
1 postsynaptic density GO:0014069 9.71 SHANK3 PRNP GRIN2A CHMP2B
2 neuron projection GO:0043005 9.65 SLC6A3 SHANK3 MAPT GRIN2A C9orf72
3 axon GO:0030424 9.55 SLC6A3 MAPT CNTNAP2 C9orf72 ATP1A3
4 dendrite GO:0030425 9.43 SLC9A6 SHANK3 PRNP MAPT CNTNAP2 C9orf72
5 axolemma GO:0030673 9.37 MAPT CNTNAP2
6 main axon GO:0044304 9.32 MAPT C9orf72
7 cell GO:0005623 9.28 TXNDC9 SLC9A6 SHANK3 PRNP MAPT GRN

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

# Name GO ID Score Top Affiliating Genes
1 memory GO:0007613 9.58 SHANK3 MAPT GRIN2A
2 negative regulation of protein phosphorylation GO:0001933 9.54 TARDBP PRNP C9orf72
3 stress granule assembly GO:0034063 9.46 MAPT C9orf72
4 vocalization behavior GO:0071625 9.43 SHANK3 CNTNAP2
5 learning GO:0007612 9.43 SHANK3 GRIN2A CNTNAP2
6 neuron projection maintenance GO:1990535 9.32 PRNP ATP1A3
7 vocal learning GO:0042297 9.16 SHANK3 CNTNAP2
8 regulation of long-term synaptic depression GO:1900452 8.96 SHANK3 MAPT
9 cellular response to amyloid-beta GO:1904646 8.8 PRNP GRIN2A ATP1A3

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

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.13 PRNP GRIN2A ATP1A3
2 chaperone binding GO:0051087 8.92 PRNP MAPT GRN ATP1A3

Sources for Mutism

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
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