Categories: Genetic diseases, Mental diseases, Oral diseases

Aliases & Classifications for Stuttering

MalaCards integrated aliases for Stuttering:

Name: Stuttering 12 42 43 15 71
Stammering 12 71
Stuttering, Familial Persistent 1 71
Stuttering, Familial, Persistent 39
Familial Persistent Stuttering 12


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Disease Ontology 12 DOID:0060243
MeSH 43 D013342
NCIt 49 C35043
SNOMED-CT 67 229631007 39423001
ICD10 32 F80.81 F98.5
UMLS 71 C0038131 C0038506 C0454542 more

Summaries for Stuttering

MedlinePlus : 42 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 and communication disorders and speech disorder, and has symptoms including seizures, fatigue and fever. An important gene associated with Stuttering is STUT3 (Stuttering, Familial Persistent, 3), and among its related pathways/superpathways are Lysosome and Methylphenidate Pathway, Pharmacodynamics. The drugs Ramipril and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are homeostasis/metabolism and adipose tissue

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

UniProtKB/Swiss-Prot : 73 Stuttering, familial persistent 1: A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant.

Wikipedia : 74 Stuttering, also known as stammering and dysphemia, is a speech disorder in which the flow of speech is... more...

Related Diseases for Stuttering

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

(show top 50) (show all 246)
# Related Disease Score Top Affiliating Genes
1 speech and communication disorders 32.9 SLC6A3 GNPTG FOXP2 DRD2 CNTNAP2
2 speech disorder 32.1 SOCS6 SOCS3 NAGPA LINC01554 GNPTG GNPTAB
3 tic disorder 31.4 SLC6A3 DRD2 CNTNAP2
4 apraxia 31.0 SLC6A3 FOXP2 CNTNAP2 CHD3
5 mucolipidosis 31.0 NAGPA GNPTG GNPTAB
6 attention deficit-hyperactivity disorder 30.9 SLC6A3 FOXP2 DRD2 DBH CNTNAP2
7 conduct disorder 30.7 SLC6A3 DRD2 DBH
8 ap-4-associated hereditary spastic paraplegia 30.7 AP4M1 AP4E1
10 oppositional defiant disorder 30.5 SLC6A3 DRD2 DBH
11 pervasive developmental disorder 30.5 SLC6A3 FOXP2 DRD2 CNTNAP2
12 multiple system atrophy 1 30.4 SLC6A3 DRD2 DBH
13 specific language impairment 30.4 NAGPA GNPTG FOXP2 CNTNAP2
14 gynecomastia 30.4 GNRH1 DRD2 CYP19A1
15 autism spectrum disorder 30.4 SLC6A3 FOXP2 DRD2 DBH CNTNAP2
16 substance abuse 30.4 SLC6A3 DRD2 DBH
17 gilles de la tourette syndrome 30.3 SLC6A3 DRD2 DBH CNTNAP2
18 asperger syndrome 30.3 CYP19A1 CYP17A1 CNTNAP2
19 articulation disorder 29.8 SOCS6 SOCS3 NAGPA LINC01554 GNPTG GNPTAB
20 stuttering, familial persistent, 4 12.7
21 stuttering, familial persistent, 3 12.7
22 cluttering 11.6
23 sotos syndrome 1 11.2
24 snijders blok-campeau syndrome 11.2
25 anxiety 10.7
26 priapism 10.6
27 mucolipidosis iii alpha/beta 10.6 NAGPA GNPTG GNPTAB
28 spastic paraplegia 51, autosomal recessive 10.6 AP4M1 AP4E1
29 mucolipidosis ii alpha/beta 10.6 NAGPA GNPTG GNPTAB
30 hereditary spastic paraplegia 51 10.6 AP4M1 AP4E1
31 aphasia 10.6
32 hand skill, relative 10.5
33 spastic paraplegia 52, autosomal recessive 10.5 AP4M1 AP4E1
34 von economo's disease 10.5 SLC6A3 CNTNAP2
35 bronchiectasis 3 10.5 GNRH1 CYP17A1
36 mammographic density 10.5 CYP19A1 CYP17A1
37 lingual-facial-buccal dyskinesia 10.5 SLC6A3 DRD2 CNTNAP2
38 pathological gambling 10.5 SLC6A3 DRD2 DBH
39 substance-induced psychosis 10.5 SLC6A3 DRD2
40 spastic paraplegia 50, autosomal recessive 10.5 AP4M1 AP4E1
41 cocaine abuse 10.5 SLC6A3 DRD2 DBH
42 cocaine dependence 10.5 SLC6A3 DRD2 DBH
43 hermansky-pudlak syndrome 2 10.5 AP4M1 AP4E1
44 transsexualism 10.5 CYP19A1 CYP17A1
45 spastic paraplegia 47, autosomal recessive 10.5 AP4M1 AP4E1
46 anovulation 10.5 GNRH1 DRD2 CYP19A1
47 mycetoma 10.5 CYP19A1 CYP17A1
48 hyperprolactinemia 10.5 GNRH1 DRD2 DBH
49 luteoma 10.5 GNRH1 CYP19A1
50 steroid inherited metabolic disorder 10.5 GNRH1 CYP19A1 CYP17A1

Graphical network of the top 20 diseases related to Stuttering:

Diseases related to Stuttering

Symptoms & Phenotypes for Stuttering

UMLS symptoms related to Stuttering:

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

MGI Mouse Phenotypes related to Stuttering:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 AP4E1 AP4M1 CYP17A1 CYP19A1 DBH DRD2
2 adipose tissue MP:0005375 9.8 AP4E1 AP4M1 CYP17A1 CYP19A1 DBH DRD2
3 integument MP:0010771 9.61 AP4E1 CNTNAP2 CYP19A1 DBH DRD2 GNPTAB
4 skeleton MP:0005390 9.32 AP4E1 CHD3 CYP17A1 CYP19A1 DBH DRD2

Drugs & Therapeutics for Stuttering

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ramipril Approved Phase 3 87333-19-5 5362129
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
Asenapine Approved Phase 3 65576-45-6, 85650-56-2 3001386
4 Ecopipam Investigational Phase 2, Phase 3 112108-01-7
5 Dopamine Agents Phase 2, Phase 3
6 Dopamine Antagonists Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Antihypertensive Agents Phase 3
9 Angiotensin-Converting Enzyme Inhibitors Phase 3
protease inhibitors Phase 3
11 HIV Protease Inhibitors Phase 3
12 Psychotropic Drugs Phase 3
13 Antipsychotic Agents Phase 3
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
Raclopride Investigational 84225-95-6
16 Tea
17 Botulinum Toxins

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 An Open-label Study to Evaluate the 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 3 Arm, Double-blind, Placebo-controlled Parallel Group Study to Assess the Efficacy,Safety and Tolerability of Pagoclone for Adults With Stuttering Completed NCT00830154 Phase 2, Phase 3 pagoclone
3 Explorative Study for Treating Persistent Developmental Stuttering With Ramipril Not yet recruiting NCT04173949 Phase 3 Ramipril 2.5 MG
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 Relapse Following the Lidcombe Program for Preschool Children Who Stutter Unknown status NCT00709072 Phase 2
6 The Effect of Spacing of Lidcombe Program Clinic Visits Unknown status NCT00680303 Phase 2
7 An 8-week, Double-blind, Randomized, Multicenter, Flexible-dose, Placebo Controlled Pilot Study of Pagoclone in Patients With PDS Followed by a 52-week Open-label Extension Completed NCT00216255 Phase 2 Pagoclone;Placebo
8 An 8-week, Double-Blind, Randomized, Multicenter, Flexible-Dose, Placebo-Controlled Pilot Study of Pagoclone in Patients With Persistent Developmental Stuttering Followed by a 52-week Open-Label Extension. Completed NCT00239915 Phase 2 Pagoclone
9 The Effects of Tactile Speech Feedback on Stuttering Frequency Withdrawn NCT01315730 Phase 1
10 Evoked and Induced Auditory Cortical Activity During Speech Perception and Speech Production in Stuttering Unknown status NCT00148161
11 The Classroom Communication Resource (CCR) Intervention to Change Grade 7 Peer's Attitudes Towards Children Who Stutter (CWS) in the Western Cape: A Protocol for a Cluster-Randomised Controlled Trial Unknown status NCT03111524
12 A Pilot Randomised Controlled Trial of the Effectiveness of Intensive Group Speech and Language Therapy as a Treatment for Older Children Who Stammer Completed NCT00945113
13 Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering Completed NCT02288598
14 Stuttering Severity and Anxiety in Egyptian School-age Children Completed NCT03160586
15 Genetic Studies of Stuttering Completed NCT00001604
16 Genetic Linkage Analysis in Developmental Stuttering: Gene Mapping in Extended Kindreds and Candidate Gene Analyses Completed NCT00001602
17 Effectiveness of Digital Manipulation of Thyroid Cartilage and Fluency Shaping Therapy for the Management of Stuttering in Adult Completed NCT03628755
18 Characteristics of Idiopathic Familial Speech Disorders Completed NCT00001551
19 The Speech Prosody of People With Stuttering and Developmental Apraxia: the Efficacy of an Intervention Program Completed NCT01097161
20 The Effect of the Combined Treatment Approach of Delayed Auditory Feedback and Transcranial Direct Current Stimulation to Enhancement of Speech Fluency in Adults Who Stutter Completed NCT03990168
21 Integration of Individualized Variables of School-age Children Who Stutter Into Intensive Stuttering Group Therapy and the Effect of Emotional Reactivity on Therapy Outcomes Completed NCT03778632
22 Non-invasive Brain Stimulation in Adults Who Stutter Completed NCT03437512
23 Assessment of Pre- and Post-Synaptic Dopamine Function in Developmental Stuttering Using 11C-Raclopride and Positron Emission Tomography Completed NCT00024960
24 Brain Activation During Developmental Speech Production and Speech Perception Completed NCT00004991
25 Treatment Efficacy for Developmental Motor Speech Disorders: A PROMPT Randomized Control Trial Completed NCT02105402
26 TEOAE Suppression in Children With Auditory Processing Difficulty Completed NCT00001957
27 Investigating Non-invasive Brain Stimulation to Enhance Fluency in People Who Stutter Recruiting NCT03335722
28 Modifying Unconscious Tongue Movements to Improve Fluency in Adults With a Confirmed Developmental Stammer. A Pilot Randomised Feasibility Study. Recruiting NCT04310436
29 Intervention for Fluency Difficulty Recruiting NCT04217460
30 Botulinum Toxin for the Treatment of Neurological Disorders Recruiting NCT00001208
31 Wearable Sensor Driven Closed-loop Deep Brain Stimulation for Essential Tremor Recruiting NCT03051178
32 Correlation of Family History, Age at Onset and Severity of Stuttering in School-age Children Not yet recruiting NCT04412213
33 Assessment of Stuttering Severity in Adults and Adolescences in Conversational and Narrative Contexts Not yet recruiting NCT04082104
34 The Effect of Spontaneous Hand Gestures on Stuttering in Children With Down Syndrome Not yet recruiting NCT03698539
35 Multimodal Studies of Language Production and Comprehension in Normal Volunteers and Patients With Neurologically-Based Language Impairments 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:

Brain, Eye, Testes, Cortex, Tongue, Heart, Spinal Cord

Publications for Stuttering

Articles related to Stuttering:

(show top 50) (show all 3788)
# Title Authors PMID Year
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 61 6
26544806 2015
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. 61 6
23239121 2013
Indicators of speech fluency in stuttering and in phonological disorder. 61 42
32267336 2020
Investigating resilience, perceived social support and trait anxiety levels of mothers of school-age children who stutter. 61 42
31939494 2020
A Novel Stuttering Disfluency Classification System Based on Respiratory Biosignals. 61 42
31946902 2019
Caregivers' perceptions of stuttering impact in young children: Agreement in mothers', fathers' and teachers' ratings. 61
32474197 2020
Evaluating parents' reactions to Children's stuttering using a Persian version of reaction to Speech Disfluency Scale. 61
32388081 2020
Effect of muscular activation on surrounding motor networks in developmental stuttering: A TMS study. 61
32135384 2020
Loci of stuttering of English- and Korean-speaking children who stutter: Preliminary findings. 61
32445988 2020
Resilience in people who stutter: Association with covert and overt characteristics of stuttering. 61
32179250 2020
Relative contributions to overall impact of stuttering in adults using the overall assessment of the Speaker's Experience of Stuttering (OASES). 61
32569881 2020
Mapping typical and hypokinetic dysarthric speech production network using a connected speech paradigm in functional MRI. 61
32521476 2020
Temperament and early stuttering intervention: Two perspectives. 61
32442826 2020
The recovery rate of early stuttering. 61
32445989 2020
Developmental stuttering disappearance after iatrogenic lesion of the facial nerve. 61
32141281 2020
Developmental stuttering and the role of the supplementary motor cortex. 61
32361030 2020
A systematic review of interventions for adults who stutter. 61
32438123 2020
Speech disfluencies in bilingual Yiddish-Dutch speaking children. 61
31645140 2020
Functional neurology after the Second World War: The beginnings of neurology on screen (III). 61
32467130 2020
A two-case study of coarticulation in stuttered speech. An articulatory approach. 61
31478388 2020
Clinical Trials of Adult Stuttering Treatment: Comparison of Percentage Syllables Stuttered With Self-Reported Stuttering Severity as Primary Outcomes. 61
32392091 2020
What do people search for in stuttering therapy: Personal goal-setting as a gold standard? 61
31607438 2020
Speech-Language Pathologists' Comfort Level With Use of Term "Stuttering" During Evaluations. 61
32233922 2020
A cross-sectional analysis of the effects of everyday life situations on stuttering and associated physical features. 61
32400764 2020
Comparison of social anxiety between Japanese adults who stutter and non-stuttering controls. 61
32535211 2020
A Structure-Based Model for the Complete Transcription Cycle of Influenza Polymerase. 61
32304664 2020
The Role of Behavioral Inhibition for Conversational Speech and Language Characteristics of Preschool-Age Children Who Stutter. 61
32073287 2020
Pediatrician Referral Practices for Children Who Stutter. 61
32464074 2020
A descriptive analysis of assessment measures on the effectiveness of a comprehensive stuttering intervention approach: A single case study. 61
32370524 2020
Natural recovery from stuttering for a clinical cohort of pre-school children who received no treatment. 61
32316786 2020
The Effects of Different Sources of Stuttering Disclosure on the Perceptions of a Child Who Stutters. 61
32302261 2020
Prolonged Migraine Stuttering Aura: Structural, Functional, and Video Neuroimaging Study of an Atypical Migraine Aura. A Case Report. 61
32141076 2020
The Speaker's Experience of Stuttering: Measuring Spontaneity. 61
32213101 2020
The management of stuttering priapism. 61
30957473 2020
The effect of tele-speech therapy on treatment of stuttering. 61
32299263 2020
An articulatory study of differences and similarities between stuttered disfluencies and non-pathological disfluencies. 61
32338079 2020
Delayed Auditory Feedback and Transcranial Direct Current Stimulation Treatment for the Enhancement of Speech Fluency in Adults Who Stutter: Protocol for a Randomized Controlled Trial. 61
32314973 2020
Treatments for priapism in boys and men with sickle cell disease. 61
32251534 2020
Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme. 61
32109365 2020
Neural Indices Mediating Rhyme Discrimination Differ for Some Young Children Who Stutter Regardless of Eventual Recovery or Persistence. 61
32302258 2020
Surface Electrical Stimulation for Persistent Stuttering and Concomitant Orofacial Disorders: A Multiple Case Study. 61
32233734 2020
Cerebral laterality as assessed by hand preference measures and developmental stuttering. 61
31144576 2020
Dose-Dependent Aripiprazole-Induced Stuttering in a Child With Mild Intellectual Disability. 61
32167942 2020
Sex Differences in Functional Brain Networks for Language. 61
31512720 2020
Primarily depression manifestation of Wilson's disease-Case report. 61
31896489 2020
Idiopathic Normal Pressure Hydrocephalus With Stuttering: Report of Two Cases and Review of the Literature. 61
31805405 2020
Characterizing stutter variants in forensic STRs with massively parallel sequencing. 61
31865225 2020
Disfluencies and Strategies Used by People Who Stutter During a Working Memory Task. 61
32186949 2020
Counting fast or slow, aloud or silently? A comparison of adult stutterers and non-stutterers. 61
32180059 2020
Amino acids profiles of children who stutter compared to their fluent sibling. 61
32129116 2020

Variations for Stuttering

ClinVar genetic disease variations for Stuttering:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AP4E1 NM_007347.5(AP4E1):c.2232_2233TA[3] (p.Thr746Ter)short repeat Likely pathogenic 548459 rs1555462184 15:51285707-51285708 15:50993510-50993511
2 AP4E1 NM_007347.5(AP4E1):c.613C>A (p.His205Asn)SNV Uncertain significance 128402 rs148499164 15:51221276-51221276 15:50929079-50929079
3 AP4E1 NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)SNV Uncertain significance 458249 rs150743968 15:51285625-51285625 15:50993428-50993428
4 AP4E1 NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys)SNV no interpretation for the single variant 242436 rs556450190 15:51289577-51289577 15:50997380-50997380
5 AP4E1 NM_007347.5(AP4E1):c.1549G>A (p.Val517Ile)SNV no interpretation for the single variant 242435 rs760021635 15:51250689-51250689 15:50958492-50958492

Copy number variations for Stuttering from CNVD:

# CNVD ID Chromosome 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
Show member pathways
10.49 SLC6A3 DRD2 DBH

GO Terms for Stuttering

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 9.26 SOCS6 SOCS3
2 endosome lumen GO:0031904 9.16 AP4M1 AP4E1
3 dopaminergic synapse GO:0098691 8.96 SLC6A3 DRD2
4 AP-4 adaptor complex GO:0030124 8.62 AP4M1 AP4E1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.67 SLC6A3 GNRH1 DRD2
2 locomotory behavior GO:0007626 9.61 SLC6A3 DRD2 DBH
3 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.54 SOCS6 SOCS3
4 protein localization GO:0008104 9.54 DRD2 AP4M1 AP4E1
5 response to iron ion GO:0010039 9.52 SLC6A3 DRD2
6 protein targeting to lysosome GO:0006622 9.51 NAGPA AP4M1
7 prepulse inhibition GO:0060134 9.48 SLC6A3 DRD2
8 behavioral response to ethanol GO:0048149 9.46 DRD2 DBH
9 striatum development GO:0021756 9.4 DRD2 CNTNAP2
10 dopamine catabolic process GO:0042420 9.32 SLC6A3 DBH
11 adenohypophysis development GO:0021984 9.26 SLC6A3 DRD2
12 hyaloid vascular plexus regression GO:1990384 9.16 SLC6A3 DRD2
13 vocal learning GO:0042297 8.96 FOXP2 CNTNAP2
14 secretion of lysosomal enzymes GO:0033299 8.62 NAGPA GNPTAB

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

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.26 SOCS6 SOCS3
2 dopamine binding GO:0035240 9.16 SLC6A3 DRD2
3 monooxygenase activity GO:0004497 9.13 DBH CYP19A1 CYP17A1
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB

Sources for Stuttering

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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