Aliases & Classifications for Mutism

MalaCards integrated aliases for Mutism:

Name: Mutism 12 30 6 45 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4189
MeSH 45 D009155
SNOMED-CT 69 88052002
UMLS 74 C0026884

Summaries for Mutism

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

MalaCards based summary : Mutism is related to pervasive developmental disorder and elective mutism, and has symptoms including photophobia, restlessness and scanning speech. An important gene associated with Mutism is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3). The drugs Fluoxetine and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and bone, and related phenotypes are hearing/vestibular/ear 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 118)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 29.7 CNTNAP2 SHANK3
2 elective mutism 12.7
3 akinetic mutism 12.6
4 frontotemporal dementia 11.1
5 frontotemporal dementia, chromosome 3-linked 11.1
6 syndromic x-linked intellectual disability 12 11.1
7 central pontine myelinolysis 11.1
8 short stature deafness neutrophil dysfunction 11.1
9 extrapontine myelinolysis 11.1
10 anxiety 10.4
11 schizophrenia 10.4
12 medulloblastoma 10.3
13 autism 10.2
14 hydrocephalus 10.2
15 social phobia 10.2
16 brain stem infarction 10.2
17 goiter 10.1
18 obstructive hydrocephalus 10.1
19 head injury 10.1
20 stuttering 10.1 CNTNAP2 SLC6A3
21 apraxia 10.1
22 cerebral artery occlusion 10.1
23 astrocytoma 10.1
24 encephalopathy 10.1
25 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB2 MITF
26 specific developmental disorder 10.0 SHANK3 SLC6A3
27 waardenburg syndrome, type 2a 10.0 GJB2 MITF
28 synucleinopathy 10.0 CHMP2B SLC6A3
29 albinism, oculocutaneous, type iv 10.0 GJB2 MITF
30 creutzfeldt-jakob disease 10.0
31 brain injury 10.0
32 hemangioblastoma 10.0
33 albinism 10.0
34 dysphagia 10.0
35 deafness, autosomal dominant 6 10.0 GJB2 MITF
36 tuberous sclerosis 1 9.9
37 lung cancer 9.9
38 traumatic brain injury 9.9
39 aphasia 9.9
40 cerebellar medulloblastoma 9.9
41 heart disease 9.9
42 paranoid schizophrenia 9.9
43 basilar artery occlusion 9.9
44 tuberous sclerosis 9.9
45 epilepsy 9.9
46 anterior cerebral artery infarction 9.9
47 acute disseminated encephalomyelitis 9.9
48 rubella 9.9
49 encephalitis 9.9
50 pilocytic astrocytoma 9.9

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

MGI Mouse Phenotypes related to Mutism:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 GJB2 MITF SHANK3 SPTBN4
2 integument MP:0010771 9.55 CNTNAP2 GJB2 MITF SHANK3 SLC6A3
3 nervous system MP:0003631 9.5 CHMP2B CNTNAP2 GJB2 MITF SHANK3 SLC6A3
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
Cisplatin Approved Phase 2, Phase 3 15663-27-1 441203 84093 2767
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
4
Lomustine Approved, Investigational Phase 2, Phase 3 13010-47-4 3950
5
Carboplatin Approved Phase 2, Phase 3 41575-94-4 38904 10339178 498142
6
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Antidepressive Agents Phase 3
9 Neurotransmitter Uptake Inhibitors Phase 3
10 Antidepressive Agents, Second-Generation Phase 3
11 Psychotropic Drugs Phase 3
12 Neurotransmitter Agents Phase 3
13 Serotonin Agents Phase 3
14 Serotonin Uptake Inhibitors Phase 3
15 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Antimitotic Agents Phase 2, Phase 3
18 Immunologic Factors 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
23
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202

Interventional clinical trials:

(show all 19)
# 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 Evaluating Intensive Group Behavioral Treatment for Children With Selective Mutism Completed NCT03612102 Not Applicable
11 Integrated Behavioral Therapy for Treating Children With Selective Mutism Completed NCT00458198 Not Applicable
12 What Treatment Works for Children With Selective Mutism? Completed NCT00554749 Not Applicable
13 Cerebellar Mutism Syndrome Study Recruiting NCT02300766
14 Advanced MRI for Posterior Fossa Tumours Recruiting NCT03471026
15 Vagal Nerve Stimulation in Coma Patients Recruiting NCT02591069 Not Applicable
16 Treating Refractory Schizophrenia With rTMS Recruiting NCT02242578 Not Applicable
17 Prospective Treatment Study of Catatonia Patients Recruiting NCT02734498 Not Applicable
18 Treatment of Social Anxiety Disorder and Selective Mutism Active, not recruiting NCT02554929 Not Applicable
19 Functional Imaging of Cerebellar Mutism Syndrome Active, not recruiting NCT01733173

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 30

Anatomical Context for Mutism

MalaCards organs/tissues related to Mutism:

42
Brain, Liver, Bone, Heart, Eye, Bone Marrow, Retina

Publications for Mutism

Articles related to Mutism:

(show top 50) (show all 664)
# Title Authors Year
1
Cerebellar mutism after posterior fossa tumor resection in children: a multicenter international retrospective study to determine possible modifiable factors. ( 30659354 )
2019
2
Fears and fear-related cognitions in children with selective mutism. ( 30684088 )
2019
3
Establishing reproducible predictors of cerebellar mutism syndrome based on pre-operative imaging. ( 30726524 )
2019
4
Teaching NeuroImages: Transient mutism associated with splenium lesion in capecitabine-induced leukoencephalopathy. ( 30804069 )
2019
5
Unable to Speak: Selective Mutism in Youth. ( 29385228 )
2018
6
Akinetic mutism following prefrontal injury by an electrical grinder a case report: A diffusion tensor tractography study. ( 29419694 )
2018
7
Treatment of selective mutism: a 5-year follow-up study. ( 29357099 )
2018
8
Treatment of selective mutism based on cognitive behavioural therapy, psychopharmacology and combination therapy - a systematic review. ( 29447060 )
2018
9
Effects of anxiety, language skills, and cultural adaptation on the development of selective mutism. ( 29859412 )
2018
10
An Examination of Fluoxetine for the Treatment of Selective Mutism Using a Nonconcurrent Multiple-Baseline Single-Case Design Across 5 Cases. ( 29320378 )
2018
11
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
12
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
13
Cerebellar Mutism Syndrome and Other Complications After Surgery in the Posterior Fossa in Adults: A Prospective Study. ( 29180084 )
2018
14
Case Report: Evaluation strategies and cognitive intervention: the case of a monovular twin child affected by selective mutism. ( 29568498 )
2018
15
Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI. ( 29926177 )
2018
16
Development of a pre-operative scoring system for predicting risk of post-operative paediatric cerebellar mutism syndrome. ( 29433337 )
2018
17
Children with autism spectrum disorders and selective mutism. ( 29765220 )
2018
18
Cerebellar mutism syndrome. ( 29891065 )
2018
19
Non-surgical transient cerebellar mutism-case report and systematic review. ( 29067507 )
2018
20
Erratum: Children with autism spectrum disorders and selective mutism [Corrigendum]. ( 30233188 )
2018
21
Evaluation of a Novel Parent-Rated Scale for Selective Mutism. ( 30010386 )
2018
22
Clinical Perspective on Passive Audio Vocal Measurement in the Evaluation of Selective Mutism. ( 30298025 )
2018
23
A Two-Session Hierarchy for Shaping Successive Approximations of Speech in Selective Mutism: Pilot Study of Mobile Apps and Mechanisms of Behavior Change. ( 30316494 )
2018
24
Quantitative MRI in post-operative paediatric cerebellar mutism syndrome. ( 30396670 )
2018
25
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
26
The Complex Diagnostic Challenge in Children With Non-Central Nervous System Cancer and Cerebellar Mutism. ( 28497710 )
2017
27
Postoperative Pediatric Cerebellar Mutism After Posterior Fossa Surgery: A Case Report. ( 28118217 )
2017
28
Neuroanatomical Mechanism of Cerebellar Mutism After Stroke. ( 29354585 )
2017
29
Risk factors for development of postoperative cerebellar mutism syndrome in children after medulloblastoma surgery. ( 28498095 )
2017
30
Reply to "Post-surgical mutism and catatonia". ( 28391444 )
2017
31
Post-surgical cerebellar mutism and catatonia. ( 28397134 )
2017
32
Switching to aripiprazole for the treatment of residual mutism resulted in distinct clinical courses in two catatonic schizophrenia cases. ( 28255444 )
2017
33
Remote Cerebellar Hemorrhage Presenting with Cerebellar Mutism after Spinal Surgery: An Unusual Case Report. ( 28490165 )
2017
34
Cerebellar Mutism Syndrome following Midline Posterior Fossa Tumor Resection in Children: An Institutional Experience. ( 29675068 )
2017
35
Cerebellar mutism syndrome in children with brain tumours of the posterior fossa. ( 28637445 )
2017
36
The Electroencephalogram Speaks for the Patient: Identification and Treatment of Akinetic Mutism With Comorbid Delirium. ( 29249557 )
2017
37
Analysis of surgical and MRI factors associated with cerebellar mutism. ( 28527006 )
2017
38
Akinetic mutism in a patient with acute infarcts in the bilateral substantia nigra. ( 28131224 )
2017
39
Apraxia of speech and cerebellar mutism syndrome: a case report. ( 28074148 )
2017
40
Cerebellar mutism syndrome: cause and rehabilitation. ( 28118304 )
2017
41
Recovery of akinetic mutism and injured prefronto-caudate tract following shunt operation for hydrocephalus and rehabilitation: A case report. ( 29390310 )
2017
42
Akinetic mutism and the story of David. ( 28150524 )
2017
43
Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study. ( 28050719 )
2017
44
Akinetic mutism in a patient with mild traumatic brain injury: A diffusion tensor tractography study. ( 28406325 )
2017
45
Latent Class Symptom Profiles of Selective Mutism: Identification and Linkage to Temperamental and Social Constructs. ( 29164351 )
2017
46
Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism. ( 28401855 )
2017
47
Akinetic mutism reversibility after L-dopa therapy in unilateral left anterior cerebral artery infarction. ( 28447507 )
2017
48
Ericksonian hypnotherapy for selective mutism: A single-case study. ( 28112698 )
2017
49
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
50
Successful Treatment of a Child with Difficult-to-Treat Chronic Selective Mutism Using Pramipexole. ( 28398815 )
2017

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 rs1555910162 GRCh37 Chromosome 22, 51159898: 51159898
2 SHANK3 NM_033517.1(SHANK3): c.3637dupC (p.His1213Profs) duplication Pathogenic rs1555910162 GRCh38 Chromosome 22, 50721470: 50721470

Expression for Mutism

Search GEO for disease gene expression data for Mutism.

Pathways for Mutism

GO Terms for Mutism

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.13 CNTNAP2 SLC6A3 SPTBN4
2 axon GO:0030424 8.8 CNTNAP2 SLC6A3 SPTBN4

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.5 RASA2 SHANK3 SPTBN4
2 locomotory behavior GO:0007626 9.46 SHANK3 SLC6A3
3 learning GO:0007612 9.43 CNTNAP2 SHANK3
4 social behavior GO:0035176 9.4 CNTNAP2 SHANK3
5 positive regulation of multicellular organism growth GO:0040018 9.37 SLC6A3 SPTBN4
6 transmission of nerve impulse GO:0019226 9.26 CNTNAP2 SPTBN4
7 vocalization behavior GO:0071625 9.16 CNTNAP2 SHANK3
8 vocal learning GO:0042297 8.96 CNTNAP2 SHANK3
9 adult behavior GO:0030534 8.8 CNTNAP2 SHANK3 SPTBN4

Sources for Mutism

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
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