Aliases & Classifications for Mutism

MalaCards integrated aliases for Mutism:

Name: Mutism 12 29 6 44 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:4189
MeSH 44 D009155
SNOMED-CT 68 88052002
UMLS 72 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 albinism, oculocutaneous, type iv, 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 Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cerebellum, 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 338)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 30.0 SHANK3 CNTNAP2
2 albinism, oculocutaneous, type iv 29.7 MITF GJB2
3 stuttering 29.6 SLC6A3 CNTNAP2
4 elective mutism 12.9
5 akinetic mutism 12.8
6 central pontine myelinolysis 11.5
7 frontotemporal dementia 11.2
8 frontotemporal dementia, chromosome 3-linked 11.2
9 syndromic x-linked intellectual disability 12 11.2
10 7q11.23 duplication syndrome 11.2
11 short stature deafness neutrophil dysfunction 11.2
12 extrapontine myelinolysis 11.2
13 medulloblastoma 10.6
14 social phobia 10.5
15 anxiety 10.5
16 hydrocephalus 10.5
17 congenital hydrocephalus 10.5
18 branchiootic syndrome 1 10.4
19 ataxia and polyneuropathy, adult-onset 10.3
20 astrocytoma 10.3
21 goiter 10.3
22 aphasia 10.3
23 apraxia 10.3
24 speech disorder 10.3
25 ocular motor apraxia 10.3
26 encephalopathy 10.3
27 head injury 10.2
28 autism 10.2
29 obstructive hydrocephalus 10.2
30 benign ependymoma 10.2
31 ependymoma 10.2
32 hypotonia 10.2
33 pseudobulbar affect 10.2
34 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 MITF GJB2
35 pseudobulbar palsy 10.1
36 brain stem infarction 10.1
37 waardenburg syndrome, type 2a 10.1 MITF GJB2
38 aceruloplasminemia 10.1
39 alacrima, achalasia, and mental retardation syndrome 10.1
40 autism spectrum disorder 10.1
41 locked-in syndrome 10.1
42 endemic goiter 10.1
43 rubella 10.1
44 pilocytic astrocytoma 10.1
45 dysphagia 10.1
46 rare surgical neurologic disease 10.1
47 creutzfeldt-jakob disease 10.0
48 schizophrenia 10.0
49 meningioma, radiation-induced 10.0
50 meningioma, familial 10.0

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:

46
# 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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
2 Antidepressive Agents Phase 3
3 Neurotransmitter Agents Phase 3
4 Serotonin Uptake Inhibitors Phase 3
5 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
6 Antidepressive Agents, Second-Generation Phase 3
7 Neurotransmitter Uptake Inhibitors Phase 3
8 Psychotropic Drugs Phase 3
9 Serotonin Agents Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
12
Cycloserine Approved Phase 2 68-41-7 6234 401
13 Renal Agents Phase 2
14 Anti-Bacterial Agents Phase 2
15 Antitubercular Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Anti-Infective Agents, Urinary Phase 2
18 Anti-Infective Agents Phase 2
19 Antimetabolites Phase 2
20
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
21
carbamide peroxide Approved 124-43-6
22
Aspartic acid Approved, Nutraceutical 56-84-8 5960
23
Calcium Approved, Nutraceutical 7440-70-2 271
24 Complement System Proteins
25 Immunologic Factors
26 Immunosuppressive Agents
27 Liver Extracts
28 Calcineurin Inhibitors
29 Hematinics
30 N-Methylaspartate
31 alanine
32 Calcium, Dietary
33
Bilirubin 635-65-4, 69853-43-6 5280352 21252250
34 Anesthetics

Interventional clinical trials:

(show all 22)
# 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 Effectiveness of Cognitive-Behavioral Therapy for Children With High-Functioning Autism Spectrum Disorder and Anxiety Completed NCT01187784 Phase 1
6 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 Unknown status NCT02554929
7 Application of Diffusion Tensor Imaging and Tractography in Pediatric Tumor Surgery Unknown status NCT02810626
8 Effectiveness of a Web-Based CBT Protocol for Treatment of Selective Mutism in Singapore Completed NCT02009839
9 Long-Term Impact of Posterior Fossa Mutism on Quality of Life Completed NCT02048176
10 Evaluating Intensive Group Behavioral Treatment for Children With Selective Mutism Completed NCT03612102
11 What Treatment Works for Children With Selective Mutism? A Treatment Pilot Study Completed NCT00554749
12 Integrated Behavioral Treatment for Selective Mutism Completed NCT00458198
13 Preventing Health Disparities in Hispanic Youth Completed NCT02318745
14 Advanced MRI in Surgery for Posterior Fossa Tumours - Predicting Post-operative Paediatric Cerebellar Mutism Syndrome and Surgical Guidance to Avoid it Recruiting NCT03471026
15 Vagus Nerve Stimulation in Patients With Chronic Consciousness Disorders Recruiting NCT02591069
16 Nordic Study of the Cerebellar Mutism Syndrome in Children With Brain Tumours of the Posterior Fossa Recruiting NCT02300766
17 Effect of rTMS Over the Medial Cerebellum on Negative Symptoms and Cognitive Dysmetria in Subjects With Treatment Refractory Schizophrenia Recruiting NCT02242578
18 Perioperative Optic Nerve Sheath Diameter As A Predictor Of Early Tacrolimus Neurotoxicity In Living Donor Liver Transplantation Recruiting NCT03799770
19 Evaluation of Preoperative and Postoperative S100β and Neuron Specific Enolase Levels in Patients Undergoing Liver Transplantation Recruiting NCT03453047
20 Pilot Study: Functional Imaging of Cerebellar Mutism Syndrome Active, not recruiting NCT01733173
21 Management of Acute Disseminated Encephalomyelitis in Neurology Unit of Assiut University Children Hospital Not yet recruiting NCT03284801
22 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:

41
Brain, Liver, Cerebellum, Testes, Thyroid, Eye, Thalamus

Publications for Mutism

Articles related to Mutism:

(show top 50) (show all 1963)
# Title Authors PMID Year
1
Why do neurologists miss catatonia in neurology emergency? A case series and brief literature review. 38
31147176 2019
2
Malnutrition-related hyperammonemic encephalopathy presenting with burst suppression: a case report. 38
31399120 2019
3
Examining a novel, parent child interaction therapy-informed, behavioral treatment of selective mutism. 38
31351241 2019
4
Stroke in supplementary motor area mimicking functional disorder: a case report. 38
31396688 2019
5
Introduction to the cerebellar mutism syndrome. 38
31399763 2019
6
Intensive group behavioral treatment (IGBT) for children with selective mutism: A preliminary randomized clinical trial. 38
31294589 2019
7
Catatonia and the immune system: a review. 38
31196793 2019
8
Association between postoperative DTI metrics and neurological deficits after posterior fossa tumor resection in children. 38
31323626 2019
9
A comparison study assessing neuropsychological outcome of patients with post-operative pediatric cerebellar mutism syndrome and matched controls after proton radiation therapy. 38
31325031 2019
10
Cerebellar mutism syndrome: current approaches to minimize risk for CMS. 38
31273496 2019
11
Posterior fossa syndrome and increased mean diffusivity in the olivary bodies. 38
31349230 2019
12
Cingulate infarction: A neuropsychological and neuroimaging study. 38
31085360 2019
13
Autopsied case of sporadic Creutzfeldt-Jakob disease classified as MM1+2C-type. 38
31062411 2019
14
Pediatric post-operative cerebellar mutism syndrome, cerebellar cognitive affective syndrome, and posterior fossa syndrome: historical review and proposed resolution to guide future study. 38
31240391 2019
15
Cerebellar mutism: the predictive role of preoperative language evaluation. 38
31201497 2019
16
Long-term impairment of social behavior, vocalizations and motor activity induced by bilateral lesions of the fastigial nucleus in juvenile rats. 38
30980139 2019
17
Posterior Fossa Society Consensus Meeting 2018: a synopsis. 38
31177321 2019
18
Fluoxetine-related mania in an adolescent girl diagnosed with selective mutism: A case report. 38
31222962 2019
19
Fully-Automated Identification of Imaging Biomarkers for Post-Operative Cerebellar Mutism Syndrome Using Longitudinal Paediatric MRI. 38
31254271 2019
20
Video self-modeling, fading, and reinforcement: An effective treatment package for children with selective mutism. 38
31213074 2019
21
Post-operative cerebellar mutism syndrome: rehabilitation issues. 38
31222445 2019
22
Radiology of post-operative paediatric cerebellar mutism syndrome. 38
31183530 2019
23
Catatonia in patients with anti-NMDA receptor encephalitis. 38
31115962 2019
24
Incidence and prognostic factors of ataxia in children with posterior fossa tumors. 38
31386000 2019
25
Establishing reproducible predictors of cerebellar mutism syndrome based on pre-operative imaging. 38
30726524 2019
26
The supplementary motor area syndrome and the cerebellar mutism syndrome: a pathoanatomical relationship? 38
31127340 2019
27
Spontaneous tension pneumocephalus and pneumoventricle in ecchordosis physaliphora: case report of a rare presentation and review of the literature. 38
31079493 2019
28
Recognizing psychiatric presentations of anti-NMDA receptor encephalitis in children and adolescents: A synthesis of published reports. 38
30653785 2019
29
Catatonic Schizophrenia: Cases with Possible Genetic Predisposition. 38
31263634 2019
30
The multiple faces of catatonia in autism spectrum disorders: descriptive clinical experience of 22 patients over 12 years. 38
30069655 2019
31
First known case of catatonia due to cyclosporine A-related neurotoxicity in a pediatric patient with steroid-resistant nephrotic syndrome. 38
31014303 2019
32
Rapidly progressive miliary brain metastasis of lung cancer after EGFR tyrosine kinase inhibitor discontinuation: An autopsy report. 38
30868686 2019
33
Visual Complications of Pediatric Posterior Fossa Tumors: Analysis of Outcomes. 38
30661932 2019
34
Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration. 38
30850568 2019
35
Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease. 38
30309804 2019
36
A case report of cholinergic rebound syndrome following abrupt low-dose clozapine discontinuation in a patient with type I bipolar affective disorder. 38
30782143 2019
37
Different routes of heroin intake cause various heroin-induced leukoencephalopathies. 38
30478618 2019
38
Missed Diagnosis of Major Depressive Disorder with Catatonia Features. 38
30717321 2019
39
Teaching NeuroImages: Transient mutism associated with splenium lesion in capecitabine-induced leukoencephalopathy. 38
30804069 2019
40
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome. 38
30296617 2019
41
Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation. 38
31316460 2019
42
Clinical Characteristics and Prognostic Factors of Treatment in Pediatric Posterior Cranial Fossa Ependymoma. 38
30699434 2019
43
Fears and fear-related cognitions in children with selective mutism. 38
30684088 2019
44
Cerebellar mutism after posterior fossa tumor resection in children: a multicenter international retrospective study to determine possible modifiable factors. 38
30659354 2019
45
Accidental Overdose of Paliperidone Palmitate. 38
31110832 2019
46
Two Sides of the Same Coin: A Case Report of First-Episode Catatonic Syndrome in a High-Functioning Autism Patient. 38
31031660 2019
47
[Reliability and Validity of the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version, DSM-5 November 2016-Turkish Adaptation (K-SADS-PL-DSM-5-T)]. 38
31170306 2019
48
Intellectual, educational, and situation-based social outcome in adult survivors of childhood medulloblastoma. 38
29336639 2019
49
Telovelar Approach to Pediatric Fourth Ventricle Tumors: Feasibility and Outcome. 38
30649815 2019
50
An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. 38
30409087 2019

Variations for Mutism

ClinVar genetic disease variations for Mutism:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SHANK3 NM_033517.1(SHANK3): c.3637dup (p.His1213fs) duplication Pathogenic rs1555910162 22:51159898-51159898 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 SPTBN4 SLC6A3 CNTNAP2
2 axon GO:0030424 8.8 SPTBN4 SLC6A3 CNTNAP2

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 SPTBN4 SHANK3 RASA2
2 learning GO:0007612 9.43 SHANK3 CNTNAP2
3 social behavior GO:0035176 9.4 SHANK3 CNTNAP2
4 positive regulation of multicellular organism growth GO:0040018 9.37 SPTBN4 SLC6A3
5 transmission of nerve impulse GO:0019226 9.26 SPTBN4 CNTNAP2
6 locomotory behavior GO:0007626 9.16 SLC6A3
7 vocalization behavior GO:0071625 9.16 SHANK3 CNTNAP2
8 vocal learning GO:0042297 8.96 SHANK3 CNTNAP2
9 adult behavior GO:0030534 8.8 SPTBN4 SHANK3 CNTNAP2

Sources for Mutism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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