MCID: STT041
MIFTS: 55

Stuttering

Categories: Genetic diseases, Mental diseases, Oral diseases

Aliases & Classifications for Stuttering

MalaCards integrated aliases for Stuttering:

Name: Stuttering 12 43 44 15 73
Stammering 12 73
Stuttering, Familial Persistent 1 73
Stuttering, Familial, Persistent 40
Familial Persistent Stuttering 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060243
ICD10 33 F80.81 F98.5
MeSH 44 D013342
NCIt 50 C35043
SNOMED-CT 68 29916003 39423001

Summaries for Stuttering

MedlinePlus : 43 Stuttering is a problem that affects the flow of your speech. If you stutter, you may Make certain words sound longer than they should be Find it hard to start a new word Repeat words or parts of words Get tense when you try to speak. You may blink your eyes rapidly, or your lips and jaw may tremble as you struggle to get the words out. Stuttering can affect anyone. It is most common in young children who are still learning to speak. Boys are three times more likely to stutter than girls. Most children stop stuttering as they grow older. Less than 1 percent of adults stutter. Scientists don't fully understand why some people stutter. The problem seems to run in families. There is no cure, but treatments can help. They include stuttering therapy, electronic devices, and self-help groups. Starting stuttering therapy early for young children can keep it from becoming a lifelong problem. NIH: National Institute on Deafness and Other Communication Disorders

MalaCards based summary : Stuttering, also known as stammering, is related to speech disorder and speech and communication disorders, and has symptoms including seizures, tremor and nausea and vomiting. An important gene associated with Stuttering is STUT3 (Stuttering, Familial Persistent, 3), and among its related pathways/superpathways are Lysosome and Nongenotropic Androgen signaling. The drugs Dopamine and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and thyroid, and related phenotypes are integument and skeleton

Disease Ontology : 12 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.

Wikipedia : 76 Stuttering, also known as stammering, is a speech disorder in which the flow of speech is disrupted by... more...

Related Diseases for Stuttering

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 speech disorder 31.9 CNTNAP2 FOXP2 GNPTAB GNPTG NAGPA
2 speech and communication disorders 31.5 CNTNAP2 FOXP2 GNPTG NAGPA
3 tic disorder 30.6 DRD2 SLC6A3
4 dyslexia 30.0 FOXP2 GNPTAB GNPTG NAGPA
5 oppositional defiant disorder 29.7 DBH DRD2 SLC6A3
6 multiple system atrophy 1 29.7 DBH DRD2 SLC6A3
7 gilles de la tourette syndrome 29.5 CNTNAP2 DBH DRD2 SLC6A3
8 attention deficit-hyperactivity disorder 29.5 CNTNAP2 DBH DRD2 SLC6A3
9 alcohol dependence 29.4 DBH DRD2 SLC6A3
10 autism 29.3 CNTNAP2 DBH DRD2 FOXP2 SLC6A3
11 stuttering, familial persistent, 3 12.4
12 stuttering, familial persistent, 4 12.4
13 cluttering 11.4
14 priapism 10.6
15 anxiety 10.5
16 mucolipidosis iii alpha/beta 10.2 GNPTAB GNPTG
17 inclusion-cell disease 10.2 GNPTAB GNPTG
18 alcohol-induced mental disorder 10.2 DRD2 SLC6A3
19 mucolipidosis ii alpha/beta 10.2 GNPTAB GNPTG
20 severe intellectual disability and progressive spastic paraplegia 10.2 AP4E1 AP4M1
21 alcoholic psychosis 10.2 DRD2 SLC6A3
22 striatonigral degeneration 10.2 DRD2 SLC6A3
23 pathological gambling 10.1 DRD2 SLC6A3
24 mutism 10.1 CNTNAP2 SLC6A3
25 social phobia 10.1
26 sickle cell anemia 10.1
27 dystonia 10.1
28 reading disorder 10.1 CNTNAP2 FOXP2
29 childhood apraxia of speech 10.1 CNTNAP2 FOXP2
30 cocaine abuse 10.0 DBH DRD2 SLC6A3
31 cocaine dependence 10.0 DBH DRD2 SLC6A3
32 conduct disorder 10.0 DBH DRD2 SLC6A3
33 schizophrenia 10.0
34 aphasia 10.0
35 sickle cell disease 10.0
36 depression 10.0
37 substance abuse 10.0 DBH DRD2 SLC6A3
38 migraine with aura 10.0 DBH DRD2 SLC6A3
39 migraine with or without aura 1 10.0 DBH DRD2 SLC6A3
40 pelvic varices 10.0 GNRH1 SHBG
41 major affective disorder 1 10.0
42 strabismus 10.0
43 major affective disorder 8 10.0
44 major affective disorder 7 10.0
45 major affective disorder 9 10.0
46 histidine metabolism disease 10.0
47 talipes equinovarus 10.0
48 tay-sachs disease 9.9
49 brain injury 9.9
50 apraxia 9.9

Graphical network of the top 20 diseases related to Stuttering:



Diseases related to Stuttering

Symptoms & Phenotypes for Stuttering

UMLS symptoms related to Stuttering:


seizures, tremor, nausea and vomiting, constipation, fever, fatigue, dyspnea, abdominal pain, edema, pruritus, back pain, cachexia, vertigo, pain, chest pain, diarrhea, headache, syncope, scanning speech, cyanosis, chronic pain, sciatica, pelvic pain, coughing, icterus, signs and symptoms, signs and symptoms, digestive, hot flushes, vertigo/dizziness, sleeplessness, dyspepsia, heartburn, gastrointestinal gas, symptoms, halitosis, stuttering, acquired, stuttering, adult, stuttering, childhood, stuttering, developmental

MGI Mouse Phenotypes related to Stuttering:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 CNTNAP2 CYP19A1 DBH DRD2 GNPTAB GNRH1
2 skeleton MP:0005390 9.5 AP4E1 CYP19A1 DBH DRD2 GNPTAB GNRH1
3 taste/olfaction MP:0005394 8.8 CNTNAP2 DRD2 SLC6A3

Drugs & Therapeutics for Stuttering

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 3 51-61-6, 62-31-7 681
2
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 3 439-14-5 3016
3
Asenapine Approved Phase 3 65576-45-6, 85650-56-2 3001386
4 Ecopipam Investigational Phase 2, Phase 3 112108-01-7
5 Tranquilizing Agents Phase 2, Phase 3,Phase 3
6 Psychotropic Drugs Phase 2, Phase 3,Phase 3
7 Dopamine Antagonists Phase 2, Phase 3
8 Dopamine Agents Phase 2, Phase 3,Phase 3
9 Antipsychotic Agents Phase 2, Phase 3,Phase 3
10 Central Nervous System Depressants Phase 2, Phase 3,Phase 3
11 Neurotransmitter Agents Phase 2, Phase 3,Phase 3,Not Applicable
12 Peripheral Nervous System Agents Phase 3
13 Anesthetics, Intravenous Phase 3
14 Adjuvants, Anesthesia Phase 3
15 Anesthetics, General Phase 3
16 GABA Agents Phase 3
17 Hypnotics and Sedatives Phase 3
18 Anti-Anxiety Agents Phase 3
19 Autonomic Agents Phase 3
20 Anticonvulsants Phase 3
21 Antiemetics Phase 3
22 Gastrointestinal Agents Phase 3
23 Pharmaceutical Solutions Phase 3
24 Neuromuscular Agents Phase 3
25 GABA Modulators Phase 3
26 Anesthetics Phase 3
27
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
28
Acetylcholine Approved Not Applicable 51-84-3 187
29 Raclopride Investigational 84225-95-6
30 Protective Agents
31 Sympathomimetics
32 Cardiotonic Agents
33 Acetylcholine Release Inhibitors Not Applicable
34 Cholinergic Agents Not Applicable
35 Botulinum Toxins Not Applicable
36 Tea Not Applicable

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Efficacy and Tolerability of Ecopipam in Adults With Childhood Onset Fluency Disorder (Stuttering). Unknown status NCT02909088 Phase 2, Phase 3 Ecopipam 50mg;Ecopipam 100mg
2 A Study to Assess the Efficacy and Safety of Pagoclone for Adults With Stuttering Completed NCT00830154 Phase 2, Phase 3 pagoclone
3 Efficacy and Safety of Diazepam in the Management of Refractory Epilepsy in Selected Patients Who Require Intermittent Medical Intervention for Acute Repetitive Seizures. Completed NCT00319501 Phase 3 Placebo;Vanquix Auto-Injector (Diazepam Injection)
4 A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Tolerability of Asenapine With Flexible Dosing From 5mg to 20mg in Adults With Developmental Stuttering Suspended NCT01684657 Phase 3 Asenapine
5 Follow-up of Children After Stuttering Treatment Unknown status NCT00709072 Phase 2
6 Spacing Lidcombe Program Clinic Visits Unknown status NCT00680303 Phase 2
7 EXPRESS: Examining Pagoclone for Persistent Developmental Stuttering Study Completed NCT00216255 Phase 2 Pagoclone;Placebo
8 Safety and Efficacy Study of the Investigational Drug Pagoclone, in the Treatment of Persistent Developmental Stuttering (PDS) Completed NCT00239915 Phase 2 Pagoclone
9 The Effects of Tactile Speech Feedback on Stuttering Frequency Withdrawn NCT01315730 Phase 1
10 Activity of the Auditory Cortex During Speech Perception and Speech Production in Stuttering Unknown status NCT00148161
11 Intensive Stuttering Group Therapy for School-age Children and the Effect of Emotional Reactivity on Therapy Outcomes Completed NCT03778632 Not Applicable
12 Effectiveness of Digital Manipulation of Thyroid Cartilage and Fluency Shaping Therapy for the Management of Stuttering in Adult Completed NCT03628755 Not Applicable
13 Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering Completed NCT02288598 Not Applicable
14 Pilot: Group Therapy for Children Who Stammer Completed NCT00945113 Not Applicable
15 Genetic Factors Related to Stuttering Completed NCT00001602
16 Dopamine Function in Developmental Stuttering Completed NCT00024960
17 Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program Completed NCT01097161 Not Applicable
18 Study of Brain Activity During Speech Production and Speech Perception Completed NCT00004991
19 Characteristics of Idiopathic Familial Speech Disorders Completed NCT00001551
20 Testing a Possible Cause of Reduced Ability of Children to Process Speech in Noise Completed NCT00001957
21 Treatment Efficacy for Developmental Motor Speech Disorders Completed NCT02105402 Not Applicable
22 Stuttering and Anxiety Recruiting NCT03160586 Not Applicable
23 Investigating Non-invasive Brain Stimulation to Enhance Fluency in People Who Stutter Recruiting NCT03335722 Not Applicable
24 Non-invasive Brain Stimulation in Adults Who Stutter Recruiting NCT03437512 Not Applicable
25 Genetic Linkage Studies of Stuttering Recruiting NCT00001604
26 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208 Not Applicable
27 Wearable Sensor for Responsive DBS for ET Recruiting NCT03051178 Not Applicable
28 The Classroom Communication Resource (CCR) Intervention to Change Grade 7 Peer's Attitudes Towards Children Who Stutter (CWS) Active, not recruiting NCT03111524 Not Applicable
29 The Effect of Spontaneous Hand Gestures on Stuttering in Children With Down Syndrome Not yet recruiting NCT03698539
30 Central Mechanisms in Speech Motor Control Studied With H215O PET Terminated NCT00001308

Search NIH Clinical Center for Stuttering

Cochrane evidence based reviews: stuttering

Genetic Tests for Stuttering

Anatomical Context for Stuttering

MalaCards organs/tissues related to Stuttering:

41
Brain, Eye, Thyroid, Heart, Pituitary, Ovary, Prostate

Publications for Stuttering

Articles related to Stuttering:

(show top 50) (show all 1144)
# Title Authors Year
1
Stuttering Frequency, Speech Rate, Speech Naturalness, and Speech Effort During the Production of Voluntary Stuttering. ( 29756528 )
2018
2
Evidence, Goals, and Outcomes in Stuttering Treatment: Applications With an Adolescent Who Stutters. ( 29322182 )
2018
3
Corpus callosum demyelination associated with acquired stuttering. ( 29680798 )
2018
4
Ziprasidone for the Treatment of Stuttering. ( 29901564 )
2018
5
Identification of neural structures involved in stuttering using vibrotactile feedback. ( 29747034 )
2018
6
Maintenance of Improved Attitudes Toward Stuttering. ( 29623339 )
2018
7
Public awareness and knowledge of stuttering in Japan. ( 29448988 )
2018
8
Effects of measurement method and transcript availability on inexperienced raters' stuttering frequency scores. ( 29738875 )
2018
9
A Hispanic mother's beliefs about stuttering aetiology: A systemic functional linguistic analysis. ( 29856661 )
2018
10
Daily tadalafil for the chronic phase of stuttering priapism: a case report. ( 29855284 )
2018
11
Recovery of brain abscess-induced stuttering after neurosurgical intervention. ( 29754132 )
2018
12
Comprehensive Stuttering Treatment for Adolescents: A Case Study. ( 29322184 )
2018
13
Speaker and Observer Perceptions of Physical Tension during Stuttering. ( 29421786 )
2018
14
Frequency of speech disruptions in Parkinson's Disease and developmental stuttering: A comparison among speech tasks. ( 29912919 )
2018
15
Successful Management of Psychotropics Induced Stuttering Priapism with Pseudoephedrine in a Patient with Schizophrenia. ( 29713098 )
2018
16
Cortical associates of emotional reactivity and regulation in childhood stuttering. ( 29723729 )
2018
17
Separation of trait and state in stuttering. ( 29624772 )
2018
18
An evaluation of G-protein coupled membrane estrogen receptor-1 level in stuttering. ( 29299745 )
2018
19
Delayed Phonological Encoding in Stuttering: Evidence from Eye Tracking. ( 29976115 )
2018
20
Beliefs and behavioural intentions towards pharmacotherapy for stuttering: A survey of adults who stutter. ( 29558672 )
2018
21
Stuttering in Preschool Children: Direct Versus Indirect Treatment. ( 29322186 )
2018
22
Stuttering and levetiracetam: Case report and research proposal. ( 29373620 )
2018
23
A Persian-version of the stuttering severity instrument-version four (SSI-4): How the new additions to SSI-4 complement its stuttering severity score? ( 29723653 )
2018
24
Acquired Stuttering in Veterans of the Wars in Iraq and Afghanistan: The Role of Traumatic Brain Injury, Post-Traumatic Stress Disorder, and Medications. ( 29912436 )
2018
25
Stuttering in Parkinson's disease after deep brain stimulation: A note on dystonia and low-frequency stimulation. ( 29396058 )
2018
26
Stuttering and Labor Market Outcomes in the United States. ( 29933430 )
2018
27
Young children's family history of stuttering and their articulation, language and attentional abilities: An exploratory study. ( 29223492 )
2018
28
Rhythmic speech and stuttering reduction in a syllable-timed language. ( 29873568 )
2018
29
Structural connectivity of right frontal hyperactive areas scales with stuttering severity. ( 29228195 )
2018
30
Sympathetic arousal as a marker of chronicity in childhood stuttering. ( 29412003 )
2018
31
Stuttering adults' lack of pre-speech auditory modulation normalizes when speaking with delayed auditory feedback. ( 29169049 )
2018
32
Neurogenic stuttering: a review of the literature. ( 29323402 )
2018
33
Comparison of Percentage of Syllables Stuttered With Parent-Reported Severity Ratings as a Primary Outcome Measure in Clinical Trials of Early Stuttering Treatment. ( 29554191 )
2018
34
Expressed parental concern regarding childhood stuttering and the Test of Childhood Stuttering. ( 29397944 )
2018
35
Stuttering-like hesitation in speech during acute/post-acute phase of immune-mediated encephalitis. ( 30220403 )
2018
36
Stuttering as the first sign of CAR-T-cell-related encephalopathy syndrome (CRES). ( 30539279 )
2018
37
A Rare Case of Severe Idiopathic Stuttering Priapism in a Young Healthy Man. ( 30094115 )
2018
38
Clozapine-induced Weight Loss and Stuttering in a Patient with Schizophrenia. ( 30093754 )
2018
39
Speaking-related changes in cortical functional connectivity associated with assisted and spontaneous recovery from developmental stuttering. ( 28216127 )
2018
40
Stuttering treatment and brain research in adults: A still unfolding relationship. ( 28413060 )
2018
41
White matter pathways in persistent developmental stuttering: Lessons from tractography. ( 29050641 )
2018
42
From locations to networks: Can brain imaging inform treatment of stuttering? ( 29054456 )
2018
43
Cognitive flexibility in preschool children with and without stuttering disorders. ( 29157666 )
2018
44
A case of multiple system atrophy-parkinsonian type with stuttering- and palilalia-like dysfluencies and putaminal atrophy. ( 29157667 )
2018
45
Best Practice for Developmental Stuttering: Balancing Evidence and Expertise. ( 29322181 )
2018
46
Exogenously triggered response inhibition in developmental stuttering. ( 29494965 )
2018
47
Short-Term Memory, Inhibition, and Attention in Developmental Stuttering: A Meta-Analysis. ( 29984373 )
2018
48
Telepractice Treatment of Stuttering: A Systematic Review. ( 30063187 )
2018
49
Examining implicit and explicit attitudes toward stuttering. ( 30081274 )
2018
50
Subtypes of stuttering determined by latent class analysis in two Swiss epidemiological surveys. ( 30086147 )
2018

Variations for Stuttering

ClinVar genetic disease variations for Stuttering:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AP4E1 NM_007347.4(AP4E1): c.2401G> A (p.Glu801Lys) single nucleotide variant no interpretation for the single variant rs556450190 GRCh37 Chromosome 15, 51289577: 51289577
2 AP4E1 NM_007347.4(AP4E1): c.2401G> A (p.Glu801Lys) single nucleotide variant no interpretation for the single variant rs556450190 GRCh38 Chromosome 15, 50997380: 50997380
3 AP4E1 NM_007347.4(AP4E1): c.1549G> A (p.Val517Ile) single nucleotide variant no interpretation for the single variant rs760021635 GRCh37 Chromosome 15, 51250689: 51250689
4 AP4E1 NM_007347.4(AP4E1): c.1549G> A (p.Val517Ile) single nucleotide variant no interpretation for the single variant rs760021635 GRCh38 Chromosome 15, 50958492: 50958492
5 AP4E1 NM_007347.4(AP4E1): c.2231_2232insTA (p.Thr746Terfs) insertion Likely pathogenic GRCh38 Chromosome 15, 50993510: 50993511
6 AP4E1 NM_007347.4(AP4E1): c.2231_2232insTA (p.Thr746Terfs) insertion Likely pathogenic GRCh37 Chromosome 15, 51285707: 51285708

Copy number variations for Stuttering from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 219954 7 132400000 147500000 Microdeletion CNTNAP2 Stuttering

Expression for Stuttering

Search GEO for disease gene expression data for Stuttering.

Pathways for Stuttering

Pathways related to Stuttering according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 AP4E1 AP4M1 GNPTAB GNPTG NAGPA
2 10.21 GNRH1 SHBG

GO Terms for Stuttering

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 AP4E1 AP4M1 CNTNAP2 GNPTAB GNPTG NAGPA
2 perikaryon GO:0043204 9.43 CNTNAP2 DRD2 GNRH1
3 endosome lumen GO:0031904 9.16 AP4E1 AP4M1
4 dopaminergic synapse GO:0098691 8.96 DRD2 SLC6A3
5 AP-4 adaptor complex GO:0030124 8.62 AP4E1 AP4M1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.69 DRD2 GNRH1 SLC6A3
2 locomotory behavior GO:0007626 9.61 DBH DRD2 SLC6A3
3 positive regulation of multicellular organism growth GO:0040018 9.58 DRD2 SLC6A3
4 response to testosterone GO:0033574 9.58 FOXP2 GNRH1
5 response to amphetamine GO:0001975 9.57 DBH DRD2
6 associative learning GO:0008306 9.56 DBH DRD2
7 adult behavior GO:0030534 9.55 CNTNAP2 DRD2
8 carbohydrate phosphorylation GO:0046835 9.54 GNPTAB GNPTG
9 response to iron ion GO:0010039 9.52 DRD2 SLC6A3
10 protein localization GO:0008104 9.5 AP4E1 AP4M1 DRD2
11 protein targeting to lysosome GO:0006622 9.49 AP4M1 NAGPA
12 striatum development GO:0021756 9.48 CNTNAP2 DRD2
13 prepulse inhibition GO:0060134 9.46 DRD2 SLC6A3
14 adenohypophysis development GO:0021984 9.4 DRD2 SLC6A3
15 behavioral response to ethanol GO:0048149 9.37 DBH DRD2
16 dopamine catabolic process GO:0042420 9.26 DBH SLC6A3
17 vocal learning GO:0042297 9.16 CNTNAP2 FOXP2
18 secretion of lysosomal enzymes GO:0033299 8.96 GNPTAB NAGPA
19 N-glycan processing to lysosome GO:0016256 8.62 GNPTAB GNPTG

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

# Name GO ID Score Top Affiliating Genes
1 dopamine binding GO:0035240 8.96 DRD2 SLC6A3
2 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTAB GNPTG

Sources for Stuttering

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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