Aliases & Classifications for Mutism

MalaCards integrated aliases for Mutism:

Name: Mutism 12 29 6 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:4189
MeSH 44 D009155
SNOMED-CT 68 267771000 88052002
UMLS 73 C0026884

Summaries for Mutism

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

MalaCards based summary : Mutism is related to aphasia and speech disorder, and has symptoms including aphonia, sleep disturbances and photophobia. An important gene associated with Mutism is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3). The drugs Fluoxetine and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related phenotypes are nervous system and integument

Related Diseases for Mutism

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

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 aphasia 29.4 CHMP2B GRN
2 speech disorder 29.2 CNTNAP2 GRN
3 supranuclear palsy, progressive, 1 28.9 GRN SLC6A3
4 autism 28.8 CNTNAP2 SHANK3 SLC6A3
5 dementia 28.5 CHMP2B GRN SLC6A3
6 elective mutism 12.5
7 akinetic mutism 12.5
8 frontotemporal dementia 10.9
9 frontotemporal dementia, chromosome 3-linked 10.9
10 syndromic x-linked intellectual disability 12 10.9
11 central pontine myelinolysis 10.9
12 short stature deafness neutrophil dysfunction 10.9
13 extrapontine myelinolysis 10.9
14 stuttering 10.3 CNTNAP2 SLC6A3
15 anxiety 10.2
16 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB2 MITF
17 synucleinopathy 10.2 CHMP2B SLC6A3
18 cerebritis 10.2
19 schizophrenia 10.2
20 medulloblastoma 10.1
21 gilles de la tourette syndrome 10.0 CNTNAP2 SLC6A3
22 social phobia 10.0
23 hydrocephalus 10.0
24 progressive non-fluent aphasia 10.0 CHMP2B GRN
25 behavioral variant of frontotemporal dementia 10.0 CHMP2B GRN
26 pervasive developmental disorder 10.0 CNTNAP2 SHANK3
27 brain stem infarction 10.0
28 semantic dementia 10.0 CHMP2B GRN
29 nominal aphasia 9.9 CHMP2B GRN
30 obstructive hydrocephalus 9.9
31 head injury 9.9
32 basal ganglia disease 9.9 CHMP2B GRN
33 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 CHMP2B GRN
34 apraxia 9.9
35 cerebral artery occlusion 9.9
36 creutzfeldt-jakob disease 9.8
37 brain injury 9.8
38 goiter 9.8
39 astrocytoma 9.8
40 anterior cerebral artery infarction 9.8
41 hemangioblastoma 9.8
42 acute disseminated encephalomyelitis 9.8
43 depression 9.8
44 dysphagia 9.8
45 encephalopathy 9.8
46 perry syndrome 9.8 GRN SLC6A3
47 tuberous sclerosis 1 9.7
48 lung cancer 9.7
49 traumatic brain injury 9.7
50 autism spectrum disorder 9.7

Graphical network of the top 20 diseases related to Mutism:



Diseases related to Mutism

Symptoms & Phenotypes for Mutism

UMLS symptoms related to Mutism:


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

MGI Mouse Phenotypes related to Mutism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 CNTNAP2 GJB2 GRN MITF SHANK3 SLC6A3
2 integument MP:0010771 9.65 CNTNAP2 GJB2 MITF SHANK3 SLC6A3
3 no phenotypic analysis MP:0003012 9.26 GJB2 GRN MITF SHANK3
4 taste/olfaction MP:0005394 8.8 CNTNAP2 SHANK3 SLC6A3

Drugs & Therapeutics for Mutism

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
2
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
3
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Lomustine Approved, Investigational Phase 2, Phase 3 13010-47-4 3950
6
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
7 Antidepressive Agents Phase 3
8 Antidepressive Agents, Second-Generation Phase 3
9 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11 Neurotransmitter Agents Phase 3
12 Neurotransmitter Uptake Inhibitors Phase 3
13 Psychotropic Drugs Phase 3
14 Serotonin Agents Phase 3
15 Serotonin Uptake Inhibitors Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Antimitotic Agents Phase 2, Phase 3
18 Antineoplastic Agents, Alkylating Phase 2, Phase 3
19 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Immunosuppressive Agents Phase 2, Phase 3
22
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
23
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Treatment of Childhood Social Phobia Completed NCT00043537 Phase 3 Fluoxetine;Pill Placebo
2 International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
3 Randomised Controlled Treatment Study of Selective Mutism Completed NCT01002196 Phase 2
4 Brief Behavioral Treatment for Anxiety in Young Children Completed NCT02051192 Phase 1, Phase 2
5 Cognitive-Behavioral Therapy for Children With High-Functioning Autism Spectrum Disorder and Anxiety Completed NCT01187784 Phase 1
6 Assessment of Cortical Stimulation Combined With Rehabilitation to Enhance Recovery in Broca's Aphasia. Completed NCT00170703 Phase 1
7 DTI & Tractography in Pediatric Tumor Surgery Unknown status NCT02810626 Not Applicable
8 Posterior Fossa Mutism on Quality of Life Completed NCT02048176
9 Web-Based CBT Protocol for Treatment of Selective Mutism Completed NCT02009839 Not Applicable
10 Integrated Behavioral Therapy for Treating Children With Selective Mutism Completed NCT00458198 Not Applicable
11 What Treatment Works for Children With Selective Mutism? Completed NCT00554749 Not Applicable
12 Cerebellar Mutism Syndrome Study Recruiting NCT02300766
13 Functional Imaging of Cerebellar Mutism Syndrome Recruiting NCT01733173
14 Vagal Nerve Stimulation in Coma Patients Recruiting NCT02591069 Not Applicable
15 Treating Refractory Schizophrenia With rTMS Recruiting NCT02242578 Not Applicable
16 Prospective Treatment Study of Catatonia Patients Recruiting NCT02734498 Not Applicable
17 Treatment of Social Anxiety Disorder and Selective Mutism Active, not recruiting NCT02554929 Not Applicable
18 Advanced MRI for Posterior Fossa Tumours Not yet recruiting NCT03471026

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:

41
Brain, Liver, Bone, Neutrophil, Thyroid, Bone Marrow, Lung

Publications for Mutism

Articles related to Mutism:

(show top 50) (show all 603)
# Title Authors Year
1
Unable to Speak: Selective Mutism in Youth. ( 29385228 )
2018
2
Akinetic mutism following prefrontal injury by an electrical grinder a case report: A diffusion tensor tractography study. ( 29419694 )
2018
3
Treatment of selective mutism: a 5-year follow-up study. ( 29357099 )
2018
4
Treatment of selective mutism based on cognitive behavioural therapy, psychopharmacology and combination therapy - a systematic review. ( 29447060 )
2018
5
Effects of anxiety, language skills, and cultural adaptation on the development of selective mutism. ( 29859412 )
2018
6
An Examination of Fluoxetine for the Treatment of Selective Mutism Using a Nonconcurrent Multiple-Baseline Single-Case Design Across 5 Cases. ( 29320378 )
2018
7
The controversy around the diagnosis of selective mutism - a critical analysis of three cases in the light of modern research and diagnostic criteria. ( 29975370 )
2018
8
Selective mutism in a child with autism spectrum disorder: A case report and an approach to the management in such difficult to treat scenario in children. ( 29960134 )
2018
9
Cerebellar Mutism Syndrome and Other Complications After Surgery in the Posterior Fossa in Adults: A Prospective Study. ( 29180084 )
2018
10
Case Report: Evaluation strategies and cognitive intervention: the case of a monovular twin child affected by selective mutism. ( 29568498 )
2018
11
Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI. ( 29926177 )
2018
12
Development of a pre-operative scoring system for predicting risk of post-operative paediatric cerebellar mutism syndrome. ( 29433337 )
2018
13
Children with autism spectrum disorders and selective mutism. ( 29765220 )
2018
14
Cerebellar mutism syndrome. ( 29891065 )
2018
15
Non-surgical transient cerebellar mutism-case report and systematic review. ( 29067507 )
2018
16
A Case of Asperger Syndrome With Comorbidity of Posttraumatic Stress Disorder and Selective Mutism: Significant Remission With the Combination of Aripiprazole and Eye Movement Desensitization and Reprocessing. ( 27977468 )
2017
17
The Complex Diagnostic Challenge in Children With Non-Central Nervous System Cancer and Cerebellar Mutism. ( 28497710 )
2017
18
Postoperative Pediatric Cerebellar Mutism After Posterior Fossa Surgery: A Case Report. ( 28118217 )
2017
19
Neuroanatomical Mechanism of Cerebellar Mutism After Stroke. ( 29354585 )
2017
20
Risk factors for development of postoperative cerebellar mutism syndrome in children after medulloblastoma surgery. ( 28498095 )
2017
21
Reply to "Post-surgical mutism and catatonia". ( 28391444 )
2017
22
Post-surgical cerebellar mutism and catatonia. ( 28397134 )
2017
23
Switching to aripiprazole for the treatment of residual mutism resulted in distinct clinical courses in two catatonic schizophrenia cases. ( 28255444 )
2017
24
Remote Cerebellar Hemorrhage Presenting with Cerebellar Mutism after Spinal Surgery: An Unusual Case Report. ( 28490165 )
2017
25
Cerebellar Mutism Syndrome following Midline Posterior Fossa Tumor Resection in Children: An Institutional Experience. ( 29675068 )
2017
26
Cerebellar mutism syndrome in children with brain tumours of the posterior fossa. ( 28637445 )
2017
27
The Electroencephalogram Speaks for the Patient: Identification and Treatment of Akinetic Mutism With Comorbid Delirium. ( 29249557 )
2017
28
Analysis of surgical and MRI factors associated with cerebellar mutism. ( 28527006 )
2017
29
Akinetic mutism in a patient with acute infarcts in the bilateral substantia nigra. ( 28131224 )
2017
30
Apraxia of speech and cerebellar mutism syndrome: a case report. ( 28074148 )
2017
31
Cerebellar mutism syndrome: cause and rehabilitation. ( 28118304 )
2017
32
Recovery of akinetic mutism and injured prefronto-caudate tract following shunt operation for hydrocephalus and rehabilitation: A case report. ( 29390310 )
2017
33
Akinetic mutism and the story of David. ( 28150524 )
2017
34
Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study. ( 28050719 )
2017
35
Akinetic mutism in a patient with mild traumatic brain injury: A diffusion tensor tractography study. ( 28406325 )
2017
36
Latent Class Symptom Profiles of Selective Mutism: Identification and Linkage to Temperamental and Social Constructs. ( 29164351 )
2017
37
Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism. ( 28401855 )
2017
38
Akinetic mutism reversibility after L-dopa therapy in unilateral left anterior cerebral artery infarction. ( 28447507 )
2017
39
Ericksonian hypnotherapy for selective mutism: A single-case study. ( 28112698 )
2017
40
Serotonin Syndrome Following Combined Administration of Dopaminergic and Noradrenergic Agents in a Patient With Akinetic Mutism After Frontal Intracerebral Hemorrhage: A Case Report. ( 28622210 )
2017
41
Successful Treatment of a Child with Difficult-to-Treat Chronic Selective Mutism Using Pramipexole. ( 28398815 )
2017
42
Children's and parent's psychological profiles in selective mutism and generalized anxiety disorder: a clinical study. ( 29081005 )
2017
43
Mutism Caused by Severe Demyelination in a Patient With Marchiafava-Bignami Disease. ( 27646053 )
2016
44
Reversible Changes of Brain Perfusion SPECT for Carbon Monoxide Poisoning-Induced Severe Akinetic Mutism. ( 26825206 )
2016
45
Anxiety and oppositional behavior profiles among youth with selective mutism. ( 26625009 )
2016
46
Selective mutism. ( 26709680 )
2016
47
Selective Mutism: The Fraternal Twin of Childhood Social Phobia. ( 27089281 )
2016
48
A case of mutism on emergence from general anesthesia. ( 26872966 )
2016
49
Childhood disintegrative disorder with seasonal total mutism: A rare clinical presentation. ( 27069898 )
2016
50
Identifying Treatment Response of Sertraline in a Teenager with Selective Mutism using Electrophysiological Neuroimaging. ( 27468379 )
2016

Variations for Mutism

ClinVar genetic disease variations for Mutism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic GRCh37 Chromosome 22, 51159898: 51159898
2 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic GRCh38 Chromosome 22, 50721470: 50721470

Expression for Mutism

Search GEO for disease gene expression data for Mutism.

Pathways for Mutism

GO Terms for Mutism

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

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.37 SHANK3 SLC6A3
2 learning GO:0007612 9.32 CNTNAP2 SHANK3
3 social behavior GO:0035176 9.26 CNTNAP2 SHANK3
4 adult behavior GO:0030534 9.16 CNTNAP2 SHANK3
5 vocalization behavior GO:0071625 8.96 CNTNAP2 SHANK3
6 vocal learning GO:0042297 8.62 CNTNAP2 SHANK3

Sources for Mutism

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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