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MCID: SPC005
MIFTS: 45

Speech Disorder

Categories: Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Speech Disorder

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MalaCards integrated aliases for Speech Disorder:

Name: Speech Disorder 12 6 15
Speech Disorders 54 44 71

Classifications:

MalaCards categories:
Anatomical: Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:92
MeSH 44 D013064
NCIt 50 C5041
ICD10 32 R47
UMLS 71 C0037822
Sources

Summaries for Speech Disorder

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Disease Ontology : 12 A communication disorder that involves difficulty with the act of speech production.

MalaCards based summary : Speech Disorder, also known as speech disorders, is related to epilepsy, focal, with speech disorder and with or without mental retardation and stuttering, and has symptoms including scanning speech, aprosodia and other and unspecified speech disturbances. An important gene associated with Speech Disorder is CLCN6 (Chloride Voltage-Gated Channel 6), and among its related pathways/superpathways are Lysosome and Pathogenesis of ALS. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include tongue, cortex and subthalamic nucleus.

Wikipedia : 74 Speech disorders or speech impairments are a type of communication disorder where 'normal' speech is... more...

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Related Diseases for Speech Disorder

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

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 33.0 GRIN2B GRIN2A
2 stuttering 32.1 NAGPA GNPTG GNPTAB FOXP2 CNTNAP2
3 speech and communication disorders 31.9 PRODH NAGPA GRIN2B GRIN2A GNPTG FOXP2
4 articulation disorder 31.9 NAGPA GNPTG GNPTAB FOXP2 CNTNAP2
5 echolalia 31.8 PRODH FOXP2 CNTNAP2
6 mutism 31.3 FOXP2 CNTNAP2
7 landau-kleffner syndrome 30.7 GRIN2B GRIN2A CNTNAP2
8 dyslexia 30.6 NAGPA GRIN2B GNPTG GNPTAB FOXP2 CNTNAP2
9 learning disability 30.5 PRODH FOXP2 CNTNAP2 CFAP47
10 dysphagia 30.5 DES ARID1B
11 focal epilepsy 30.5 GRIN2B GRIN2A CNTNAP2
12 fragile x syndrome 30.5 PRODH GRIN2B GRIN2A CNTNAP2
13 alacrima, achalasia, and mental retardation syndrome 30.4 TRAPPC9 SCAPER GRIN2B GRIN2A FOXP1 CNTNAP2
14 movement disease 30.4 PRODH LOC106627981 CLCN6
15 autism spectrum disorder 30.3 TRAPPC9 PRODH GRIN2B GRIN2A FOXP2 CNTNAP2
16 non-syndromic intellectual disability 30.3 TRAPPC9 CFAP47 ARID1B
17 autism 30.3 TRAPPC9 PRODH GRIN2B GRIN2A FOXP2 FOXP1
18 benign epilepsy with centrotemporal spikes 30.3 PRODH GRIN2B GRIN2A FOXP2 CNTNAP2
19 pervasive developmental disorder 30.3 PRODH GRIN2B GRIN2A FOXP2 CNTNAP2
20 specific language impairment 30.2 NAGPA GNPTG FOXP2 FOXP1 CNTNAP2 CFAP47
21 disease of mental health 29.9 TRAPPC9 SCAPER PRODH GRIN2B GRIN2A FOXP2
22 epilepsy-aphasia spectrum 11.2
23 grin2a-related speech disorders and epilepsy 11.1
24 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.0
25 neurodegeneration with brain iron accumulation 1 10.9
26 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.9
27 spastic paraplegia 20, autosomal recessive 10.8
28 pontine tegmental cap dysplasia 10.8
29 mental retardation, buenos aires type 10.8
30 centralopathic epilepsy 10.7
31 mucolipidosis iii alpha/beta 10.5 NAGPA GNPTG GNPTAB
32 mucolipidosis 10.5 NAGPA GNPTG GNPTAB
33 mucolipidoses 10.5 GNPTG GNPTAB
34 mucolipidosis ii alpha/beta 10.5 NAGPA GNPTG GNPTAB
35 tarsal tunnel syndrome 10.5 GNPTG GNPTAB
36 tibial neuropathy 10.5 GNPTG GNPTAB
37 lingual-facial-buccal dyskinesia 10.5 GRIN2B GRIN2A CNTNAP2
38 amnestic disorder 10.5 GRIN2B GRIN2A CNTNAP2
39 phelan-mcdermid syndrome 10.5 GRIN2B GRIN2A CNTNAP2
40 mental retardation with language impairment and with or without autistic features 10.5 FOXP2 FOXP1
41 blepharophimosis 10.5 FOXP2 FOXP1 ARID1B
42 mucopolysaccharidosis-plus syndrome 10.4 NAGPA GNPTG GNPTAB
43 rhabdoid cancer 10.4 PRODH DES ARID1B
44 anterograde amnesia 10.4 GRIN2B CNTNAP2
45 reading disorder 10.4 NAGPA GRIN2B FOXP2 CNTNAP2 CFAP47
46 chromosome 6q24-q25 deletion syndrome 10.4 PRODH ARID1B
47 mucolipidosis iii gamma 10.4 GNPTG GNPTAB
48 autosomal recessive disease 10.4 SCAPER PRODH GNPTG GNPTAB
49 cerebral palsy 10.4
50 ocular dominance 10.4 GRIN2B GRIN2A

Graphical network of the top 20 diseases related to Speech Disorder:



Diseases related to Speech Disorder
Sources

Symptoms & Phenotypes for Speech Disorder

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UMLS symptoms related to Speech Disorder:


scanning speech, aprosodia, other and unspecified speech disturbances, other speech disturbances, cluttering, dysglossia, rhinolalia
Sources

Drugs & Therapeutics for Speech Disorder

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2 Ecopipam Investigational Phase 2, Phase 3 112108-01-7
3 Dopamine Agents Phase 2, Phase 3
4 Dopamine Antagonists Phase 2, Phase 3
5 Psychotropic Drugs Phase 2, Phase 3
6 Antipsychotic Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8
Clotrimazole Approved, Vet_approved 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
10 Antifungal Agents
11 Pharmaceutical Solutions

Interventional clinical trials:

(show all 34)
# 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 Safety/Efficacy of Intranasally-Administered Bioactive Factors Produced by M2 Type Macrophages in Children With Developmental Speech Disorders Recruiting NCT04689282 Phase 1, Phase 2
3 Word by Word: Building Sentences With Preschoolers Who Use AAC Recruiting NCT03538925 Phase 2
4 Speech-in-Noise Treatments to Improve Hypophonia in Everyday Social Contexts for Individuals With Parkinson's Disease Not yet recruiting NCT04323085 Phase 2
5 Treating Speech Disorders in Patients With Parkinson's Disease Using Altered Auditory Feedback Completed NCT00488657 Phase 1
6 Biofeedback and Speech Disorders Completed NCT01905449 Phase 1
7 Treatment Efficacy for Developmental Motor Speech Disorders: A PROMPT Randomized Control Trial Completed NCT02105402
8 Visual Feedback of Tongue by Ultrasound Echography for Speech Trouble Rehabilitation Completed NCT02752425
9 Lingual Frenum and Possible Alterations in the Articulation of Phonemes Completed NCT01180309
10 Intervention Software for Children With Speech Sound Disorders Completed NCT02490826
11 Characteristics of Idiopathic Familial Speech Disorders Completed NCT00001551
12 A Speech Disorders Severity Index to Measure the Impact of Oral and Pharyngeal Cavity on Speech Production Completed NCT02875795
13 Study of Speech Disorders , Voice and Swallowing in Primary Dystonia Oromandibular Completed NCT03380676
14 Exploration of the Diagnostic Capabilities of Ultrasound of the Oropharynx and Larynx Completed NCT00001167
15 Development of Normative Ultrasound Databases of Tongue Surface Configuration Completed NCT00001218
16 The Effect of Oral Candidiasis on the Speech Production, Feeding Skills, and Self-Concept of Children and Adolescents With Symptomatic HIV Infection Completed NCT00001448
17 Word-Retrieval for Aphasia: Facilitation of Generalization Completed NCT00125242
18 Evaluation of the Effects of Response Elaboration Training for Aphasia Completed NCT00125216
19 Apraxia of Speech: A Comparison of EPG Treatment & Sound Production Treatment Completed NCT02554513
20 Brain Connectivity Supporting Language Recovery in Aphasia Completed NCT02416856
21 Software for Alternative Communication Completed NCT02847923
22 Age-related Correlates of Treatment Efficacy and Efficiency for Late-acquired Sounds Completed NCT03663972
23 Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering Completed NCT02288598
24 The Effect of Different Feeding Methods and Non-nutritive Sucking Behaviours on Child Speech Development Recruiting NCT03315416
25 Validation and Cultural Adaptation of the Turkish Translation of the London Speech Evaluation Scale Recruiting NCT04690166
26 Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016
27 A New Membrane Obturator Prothesis Concept for Soft Palate Defects Recruiting NCT04009811
28 Real World Testing of a Brain-Computer Interface to Operate a Commercial Augmentative and Alternative Communication System Recruiting NCT04026581
29 Orthognathic Speech Pathology: Phonetic Contrasts of Patients With Dentofacial Discrepancies With Pre- and Post-Treatment Analyses Recruiting NCT04117360
30 Yi Jin Jing Tiger Roaring Speech Rehabilitation With Real-Time Feedback Technique for Treatment of Speech Disorders in Parkinson's Disease: A Perspective Cohort Study Not yet recruiting NCT04528147
31 Characterization and Quantification of Motor Speech Disorders in Huntington's Disease: Identification of Acoustic Markers Not yet recruiting NCT04630574
32 Validity of a Task of Acoustic-phonetic Decoding on Anatomic Deficits in Paramedical Assessment of Speech Disorders for Patients Treated for Oral or Oropharyngeal Cancer Not yet recruiting NCT04742998
33 Down Syndrome Speech Intelligibility Diagnostic Treatment Study Suspended NCT04059354
34 Influence of Medical Clowning in Videofluoroscopic Examination of Pediatric Speech Disorder Terminated NCT02701322

Search NIH Clinical Center for Speech Disorder

Cochrane evidence based reviews: speech disorders

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Genetic Tests for Speech Disorder

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Anatomical Context for Speech Disorder

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MalaCards organs/tissues related to Speech Disorder:

40
Tongue, Cortex, Subthalamic Nucleus, Eye, Temporal Lobe, Cerebellum, Thalamus
Sources

Publications for Speech Disorder

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Articles related to Speech Disorder:

(show top 50) (show all 2166)
# Title Authors PMID Year
1
FOXP genes, neural development, speech and language disorders. 61 54
20429420 2009
2
Structure of the forkhead domain of FOXP2 bound to DNA. 54 61
16407075 2006
3
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. 61 54
15056695 2004
4
Expression of Foxp2, a gene involved in speech and language, in the developing and adult striatum. 54 61
12815709 2003
5
Speech rehabilitation in post-stroke aphasia using visual illustration of speech articulators: A case report study. 61
32567986 2021
6
Intravenous paracetamol for neonates: long-term diseases not escalated during 5 years of follow-up. 61
32943529 2021
7
Spinal or cortical direct current stimulation: Which is the best? Evidence from apraxia of speech in post-stroke aphasia. 61
33207242 2021
8
A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family. 61
33368912 2021
9
The technology of tongue and hard palate contact detection: a review. 61
33549118 2021
10
Speech rate association with cerebellar white-matter diffusivity in adults with persistent developmental stuttering. 61
33538875 2021
11
Acoustic vowel analysis and speech intelligibility in young adult Hebrew speakers: Developmental dysarthria versus typical development. 61
33522087 2021
12
Extensive tissue necrosis of the tongue in a methamphetamine user: A case report. 61
33606289 2021
13
Educational outcomes associated with persistent speech disorder. 61
33533175 2021
14
Associations Between Speech Perception, Vocabulary, and Phonological Awareness Skill in School-Aged Children With Speech Sound Disorders. 61
33514264 2021
15
Assessment of adult speech disorders: current situation and needs in French-speaking clinical practice. 61
33423572 2021
16
The neuropsychological outcomes of non-fatal strangulation in domestic and sexual violence: A systematic review. 61
33432860 2021
17
How aware is the public of the existence, characteristics and causes of language impairment in childhood and where have they heard about it? A European survey. 61
33279754 2021
18
The Clinical Features and Prognosis of Anti-NMDAR Encephalitis Depends on Blood Brain Barrier Integrity. 61
33130468 2021
19
Public attitudes towards people who stutter in South Egypt. 61
33539373 2021
20
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. 61
32895917 2021
21
Delirium in acute stroke: A prospective, cross-sectional, cohort study. 61
33476475 2021
22
Reliability of single-subject neural activation patterns in speech production tasks. 61
33278802 2021
23
Sensitivity and specificity of an acoustic- and perceptual-based tool for assessing motor speech disorders in French: the MonPaGe-screening protocol. 61
33478251 2021
24
Comparing global motor characteristics in children and adults with childhood apraxia of speech to a cerebellar stroke patient: evidence for the cerebellar hypothesis in a developmental motor speech disorder. 61
33327803 2020
25
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study. 61
33045651 2020
26
Genetic pathways involved in human speech disorders. 61
32622339 2020
27
Neurological Examination Techniques of Speech in Bahasa Malaysia for Adults: Simple Approach Practiced in Hospital Universiti Sains Malaysia. 61
33447142 2020
28
Understanding the human language processor: Neurobiology's insights into the human brain's semantic processing of information could inform education and therapies for language disorders. 61
33289274 2020
29
[Influence of glottal stops on nasalance and velopharyngeal closure status after cleft palate surgery]. 61
33280360 2020
30
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. 61
33313762 2020
31
Drug induced stuttering: pharmacovigilance data. 61
33337944 2020
32
Dissociated Development of Speech and Limb Sensorimotor Learning in Stuttering: Speech Auditory-motor Learning is Impaired in Both Children and Adults Who Stutter. 61
33091464 2020
33
Speech in children with cerebral palsy. 61
32588921 2020
34
Simplification of syllable structure in childhood apraxia of speech: a 2-year follow-up French case study. 61
33305632 2020
35
Neuromuscular and biomechanical adjustments of the speech mechanism during modulation of vocal loudness in children with cerebral palsy and dysarthria. 61
33347384 2020
36
Assessment of adult patients with cerebral palsy. 61
33364563 2020
37
Prevalence of Phonological Articulation Disorders in Preschool Children in the City of Skopje. 61
33500374 2020
38
Investigation of Different Time-Frequency Representations for Intelligibility Assessment of Dysarthric Speech. 61
33141673 2020
39
Increased speech contrast induced by sensorimotor adaptation to a non-uniform auditory perturbation. 61
33356887 2020
40
Markedness and implicational relationships in phonological development: A cross-linguistic investigation. 61
33342295 2020
41
No prognostic differences between GBM-patients presenting with postoperative SMA-syndrome and GBM-patients involving cortico-spinal tract and primary motor cortex. 61
33075591 2020
42
Dysarthria and other-initiated repair in everyday conversation. 61
31899971 2020
43
Demographic and clinical characterization of multiple sclerosis in Mexico: The REMEMBer study. 61
33296973 2020
44
[The influence of multiple sclerosis-related symptoms on health-related quality of life]. 61
32356284 2020
45
Diagnosis and treatment of speech disorders in children with Moebius syndrome. 61
32829202 2020
46
Prenatal opioid exposure - Increasing evidence of harm. 61
32958331 2020
47
A novel homozygous KY variant causing a complex neurological disorder. 61
32818658 2020
48
[Therapeutic effects of "kidney three-needle" therapy plus fire needling therapy in treatment of post-stroke urinary incontinence]. 61
33269838 2020
49
Communication Limitations in Patients With Progressive Apraxia of Speech and Aphasia. 61
32755493 2020
50
Estimation of Parkinson's disease severity using speech features and extreme gradient boosting. 61
32910301 2020
Sources

Variations for Speech Disorder

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ClinVar genetic disease variations for Speech Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLCN6 NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) SNV Pathogenic 974617 1:11894424-11894424 1:11834367-11834367
2 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) Deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190
3 ARID1B NM_017519.2(ARID1B):c.3406del (p.Leu1136fs) Deletion Likely pathogenic 374133 rs1057518918 6:157505463-157505463 6:157184329-157184329
4 LOC106627981 NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) SNV risk factor 199044 rs2230288 1:155206167-155206167 1:155236376-155236376
5 TTN-AS1 NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) SNV Uncertain significance 203055 rs372304158 2:179401042-179401042 2:178536315-178536315
6 TTN-AS1 NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) SNV Uncertain significance 203056 rs368321767 2:179401027-179401027 2:178536300-178536300
7 TTN NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) SNV Uncertain significance 202555 rs373355159 2:179567225-179567225 2:178702498-178702498
8 CPEB1-AS1 NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) SNV Uncertain significance 807299 rs200983489 15:83349398-83349398 15:82680646-82680646
9 TTN-AS1 NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) SNV Likely benign 96314 rs72648237 2:179418346-179418346 2:178553619-178553619
Sources

Expression for Speech Disorder

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Search GEO for disease gene expression data for Speech Disorder.
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Pathways for Speech Disorder

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Pathways related to Speech Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lysosome 36
11.24 NAGPA GNPTG GNPTAB
2
Pathogenesis of ALS 63
10.55 GRIN2B GRIN2A
3
SALM protein interactions at the synapses 65
9.95 GRIN2B GRIN2A
Sources

GO Terms for Speech Disorder

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Cellular components related to Speech Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN2B GRIN2A

Biological processes related to Speech Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.5 TRAPPC9 FOXP2 CNTNAP2
2 carbohydrate phosphorylation GO:0046835 9.43 GNPTG GNPTAB
3 ionotropic glutamate receptor signaling pathway GO:0035235 9.4 GRIN2B GRIN2A
4 glutamate receptor signaling pathway GO:0007215 9.37 GRIN2B GRIN2A
5 excitatory chemical synaptic transmission GO:0098976 9.26 GRIN2B GRIN2A
6 actin filament reorganization GO:0090527 9.16 EFS CASS4
7 calcium ion transmembrane import into cytosol GO:0097553 8.96 GRIN2B GRIN2A
8 secretion of lysosomal enzymes GO:0033299 8.62 NAGPA GNPTAB

Molecular functions related to Speech Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 9.26 GRIN2B GRIN2A
2 NMDA glutamate receptor activity GO:0004972 9.16 GRIN2B GRIN2A
3 glutamate-gated calcium ion channel activity GO:0022849 8.96 GRIN2B GRIN2A
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTG GNPTAB
Sources

Sources for Speech Disorder

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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