MCID: DYS182
MIFTS: 34

Dysphasia, Familial Developmental

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dysphasia, Familial Developmental

MalaCards integrated aliases for Dysphasia, Familial Developmental:

Name: Dysphasia, Familial Developmental 56 71
Specific Language Impairment 52 71
Developmental Dysphasia Familial 52
Familial Developmental Dysphasia 58
Developmental Language Disorder 52
Billard-Toutain-Maheut Syndrome 58
Language Development Disorders 71
Foxp2-Associated Dysphasia 58

Characteristics:

Orphanet epidemiological data:

58
familial developmental dysphasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
dysphasia, familial developmental:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 600117
ICD10 via Orphanet 33 F80.1
UMLS via Orphanet 72 C1838630
Orphanet 58 ORPHA1799
MedGen 41 C1838630
SNOMED-CT via HPO 68 20301004 229734008 263681008
UMLS 71 C0023014 C0454651 C1838630

Summaries for Dysphasia, Familial Developmental

NIH Rare Diseases : 52 Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.

MalaCards based summary : Dysphasia, Familial Developmental, also known as specific language impairment, is related to specific language impairment and specific language impairment 1. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are dysphasia and incomprehensible speech

More information from OMIM: 600117

Related Diseases for Dysphasia, Familial Developmental

Diseases related to Dysphasia, Familial Developmental via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 specific language impairment 13.0
2 specific language impairment 1 12.9
3 specific language impairment 4 12.9
4 specific language impairment 5 12.8
5 specific language impairment 2 12.8
6 specific language impairment 3 12.8
7 expressive language disorder 11.5
8 alexia 11.1
9 autism 10.7
10 speech and communication disorders 10.6
11 autism spectrum disorder 10.6
12 dyslexia 10.5
13 attention deficit-hyperactivity disorder 10.4
14 down syndrome 10.3
15 developmental coordination disorder 10.2
16 developmental dyspraxia 10.2
17 learning disability 10.2
18 hand skill, relative 10.2
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
20 stuttering 10.1
21 severe early-childhood-onset retinal dystrophy 10.1
22 asperger syndrome 10.1
23 pervasive developmental disorder 10.1
24 aphasia 10.1
25 apraxia 10.1
26 speech disorder 10.1
27 brain injury 10.1
28 specific language disorder 10.1
29 williams-beuren syndrome 10.0
30 cavitary optic disc anomalies 10.0
31 autism 16 10.0
32 alacrima, achalasia, and mental retardation syndrome 10.0
33 47,xyy 10.0
34 foxp2-related speech and language disorders 10.0
35 otitis media 9.8
36 retinitis pigmentosa 11 9.8
37 cortical dysplasia, complex, with other brain malformations 7 9.8
38 dyscalculia 9.8
39 avoidant personality disorder 9.8
40 personality disorder 9.8
41 epilepsy 9.8
42 focal epilepsy 9.8
43 cocaine abuse 9.8
44 specific learning disability 9.8
45 pik3ca-related overgrowth syndrome 9.8
46 cleft palate, isolated 9.8
47 hair whorl 9.8
48 velocardiofacial syndrome 9.8
49 hyperlexia 9.8
50 epilepsy, focal, with speech disorder and with or without mental retardation 9.8

Graphical network of the top 20 diseases related to Dysphasia, Familial Developmental:



Diseases related to Dysphasia, Familial Developmental

Symptoms & Phenotypes for Dysphasia, Familial Developmental

Human phenotypes related to Dysphasia, Familial Developmental:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
2 incomprehensible speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002546
3 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0002474

Symptoms via clinical synopsis from OMIM:

56
Neuro:
developmental dysphasia
specific severe delayed spoken language development

Clinical features from OMIM:

600117

Drugs & Therapeutics for Dysphasia, Familial Developmental

Drugs for Dysphasia, Familial Developmental (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
3 Dill Approved
4 Complement System Proteins

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Effectiveness of a Parent-Based Language Intervention Group Program for Two-Year-Old Children With Language Delay Unknown status NCT00625261 Phase 3
2 A Comparison of Language Intervention Programs Completed NCT00033150 Phase 3
3 Building Complex Language: Effect of Treatment and Dosage Completed NCT01337232 Phase 1, Phase 2
4 Maximizing Outcomes for Preschoolers With Developmental Language Disorder: Testing the Effects of a Sequentially Targeted Naturalistic Intervention. Recruiting NCT03782493 Phase 2
5 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
6 Specific Language Impairment (SLI) in Children May Caused by Epileptic Brain Activity Completed NCT04141332
7 Pivotal Response Treatment for Individuals With Intellectual Disabilities Completed NCT01988623
8 Experimental Word Learning in Children With Normal Development and Children With Language Impairment Completed NCT00607334
9 Interactive Book Reading to Accelerate Word Learning by Children With SLI Completed NCT01829360
10 Evaluating Treatment Efficacy of Two Syntactic Treatment Procedures for Children With Specific Language Impairment (SLI): A Randomized Controlled Trial Completed NCT01765348
11 Long-term Use Benefits of Personal Frequency-modulated Systems for Speech in Noise Perception in Stroke Patients With Auditory Processing Deficits- 'a Non-randomised Completed NCT02889107
12 Evaluation of the Central Auditory Processing in Patients (Elder Than 45 Years Old) With Bilateral Sensorineural Hearing Loss and the Change of the Central Auditory Processing Ability by the Use of Hearing Aids (CAPHA) Completed NCT01897181
13 Augmentative and Alternative Communication and Lexical Gain in Children With Down Syndrome: Pilot Study Completed NCT00689988
14 Pilot Study: The Effectiveness of Computerized Auditory Training Programme on Children With Auditory Processing Disorder Completed NCT02111343
15 Developmental Intervention for Infants of Adolescent Mothers Completed NCT03547492
16 Central Auditory Processing Disorders Associated With Blast Exposure Completed NCT00554801
17 Cochlear Implantation in Single Sided Deafness and Asymmetrical Hearing Loss: a Cost/Utility Study. Completed NCT02204618
18 Promoting Early School Readiness in Primary Health Care Completed NCT00212576
19 Improving STEM Outcomes for Young Children With Language Learning Disabilities by Intervening at the Intersection of Language and Scientific Thought. Recruiting NCT03438760
20 Interactive Book Reading to Accelerate Word Learning by Children With SLI Recruiting NCT03586479
21 Manipulating Linguistic Complexity to Improve Child Language Treatment Outcomes Recruiting NCT03977701
22 Coding and Memorisation of Phonologic Information Among Preschool and School Children With Oral Language Developement Disorder. Recruiting NCT02609542
23 Strategies for Teaching Verbs Recruiting NCT03441685
24 Characterization of Ascending and Descending Auditory Processing Involved in the Encoding of Speech Sounds in Adult and Children: Variability Related to Changes in Sensory Input or a Neurodevelopmental Disorder or Targeted Remediation Recruiting NCT02574299
25 Age-related Correlates of Treatment Efficacy and Efficiency for Late-acquired Sounds Recruiting NCT03663972
26 Early UVFP Management Based on Neurological Evidences (UVFP = Unilateral Vocal Fold Paralysis) (ION-UVFP) - Preliminary Study Recruiting NCT03966183
27 Perceptual Learning and Memory Consolidation in Adults With and Without Language Impairment Recruiting NCT03609502
28 EMT en Español: Comprehensive Early Intervention to Support School Readiness Skills for Spanish-speaking Toddlers With Language Delays Recruiting NCT04066049
29 Parent-implemented Intervention for Very Preterm Children With Language Delay Recruiting NCT02042235
30 Shape Bias Training as a Vocabulary Intervention for Late Talkers Recruiting NCT03379818
31 Influence of a Intervention Break on a Treated Phonological Process in Spontaneous Speech Situations in Children Aged 5 to 6 Years With Phonologically Delayed Development Recruiting NCT03972891
32 Parent-Level Predictors of Early Language Interaction Quality and Intervention Outcomes Active, not recruiting NCT03525951
33 Efficacy of the Direct Instruction Language for Learning Program to Promote Expressive and Receptive Language in Children With Autism Spectrum Disorder Active, not recruiting NCT02483910
34 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism Not yet recruiting NCT04100863
35 Bridging Connections: A Language Intervention Study of Preterm Infants in the NICU Not yet recruiting NCT03688386
36 Identification of Hereditary Auditory Temporal Processing Deficits Terminated NCT00004570

Search NIH Clinical Center for Dysphasia, Familial Developmental

Genetic Tests for Dysphasia, Familial Developmental

Anatomical Context for Dysphasia, Familial Developmental

MalaCards organs/tissues related to Dysphasia, Familial Developmental:

40
Brain, Testes, Eye, Cortex, Cerebellum, Temporal Lobe, Thalamus

Publications for Dysphasia, Familial Developmental

Articles related to Dysphasia, Familial Developmental:

(show top 50) (show all 1621)
# Title Authors PMID Year
1
Feature-blind grammar and dysphagia. 56
2330028 1990
2
An extended family with a dominantly inherited speech disorder. 56
2332125 1990
3
Language disabilities in three twin pairs and their relatives. 56
4050301 1985
4
Number processing skill trajectories in children with specific language impairment. 61
31954421 2020
5
How biological elements interact with language: The biolinguistic inquiry. 61
31585924 2020
6
Dismantling the "Visual Ease Assumption:" A Review of Visual Narrative Processing in Clinical Populations. 61
31373182 2020
7
Reduced deficits observed in children and adolescents with developmental language disorder using proper nonverbalizable span tasks. 61
31790984 2020
8
Similarities and differences in the lexical-grammatical relation of young dual language learners with and without specific language impairment. 61
31092018 2020
9
Regular rhythmic primes boost P600 in grammatical error processing in dyslexic adults and matched controls. 61
31877312 2019
10
Visual and verbal semantic productions in children with ASD, DLD, and typical language. 61
31351344 2019
11
Erratum to "Linguistic Contributions to Word-Level Spelling Accuracy in Elementary School Children With and Without Specific Language Impairment". 61
31503500 2019
12
Toward Understanding the Lexical-Morphological Networks of Children With Specific Language Impairment: Analysis of Responses on a Morphological Production Task. 61
31693430 2019
13
A comparative study of language phenotypes in Autism Spectrum Disorder and Specific Language Impairment. 61
31634089 2019
14
Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk. 61
31577390 2019
15
Deficits in Explicit Language Problem Solving Rather Than in Implicit Learning in Specific Language Impairment: Evidence From Learning an Artificial Morphological Rule. 61
31560600 2019
16
Specific Language Impairment in African American English and Southern White English: Measures of Tense and Agreement With Dialect-Informed Probes and Strategic Scoring. 61
31525131 2019
17
Narrative abilities of Mandarin-speaking children with and without specific language impairment: macrostructure and microstructure. 61
31496290 2019
18
The Relationship Between Language and Planning in Children With Language Impairment. 61
31343936 2019
19
Subject-Aux Inversion in Children with SLI. 61
30945043 2019
20
A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI). 61
30976110 2019
21
Executive control in language production by children with and without language impairment. 61
30920093 2019
22
De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment. 61
31326210 2019
23
Spoken language development in school-aged children with cochlear implants as compared to hard-of-hearing children and children with specific language impairment. 61
31048113 2019
24
Procedural learning across the lifespan: A systematic review with implications for atypical development. 61
28990357 2019
25
Left hemisphere enhancement of auditory activation in language impaired children. 61
31235763 2019
26
Comparative Expression Analysis of Human Endogenous Retrovirus Elements in Peripheral Blood of Children with Specific Language Impairment. 61
31523620 2019
27
A View of the Lexical-Grammatical Link in Young Latinos With Specific Language Impairment Using Language-Specific and Conceptual Measures. 61
31112438 2019
28
Contribution of reading an e-book with a dictionary to word learning: Comparison between kindergarteners with and without SLI. 61
30974294 2019
29
Linguistic Contributions to Word-Level Spelling Accuracy in Elementary School Children With and Without Specific Language Impairment. 61
31136239 2019
30
Nonword Repetition Across Two Dialects of English: Effects of Specific Language Impairment and Nonmainstream Form Density. 61
31046563 2019
31
Exploring gender as a potential source of bias in adult judgments of children with specific language impairment and attention-deficit/hyperactivity disorder. 61
31147086 2019
32
Word Retrieval Difficulties and Cognitive Control in Specific Language Impairment. 61
30986144 2019
33
Speech-Language Pathologists' Clinical Decision Making for Children With Specific Language Impairment. 61
30969904 2019
34
The Impact of Manipulating Attentional Shifting Demands on Preschool Children With Specific Language Impairment. 61
30950694 2019
35
The use of evaluative expressions in the narratives of adolescents with a history of SLI. 61
31017004 2019
36
The production of wh-questions in Italian-speaking children with SLI. 61
30239228 2019
37
A multi-group approach to examining language development in at-risk learners. 61
30221620 2019
38
Psychometric Evaluation of Lexical Diversity Indices in Spanish Narrative Samples From Children With and Without Developmental Language Disorder. 61
30950757 2019
39
When morphological ability exceeds syntactic ability: A case study. 61
31274361 2019
40
Case marking in German-speaking children with specific language impairment and with phonological impairment. 61
30183450 2019
41
Morphophonology and compensation in Specific Language Impairment: Evidence from Standard Modern Greek and Cypriot Greek. 61
30102084 2019
42
Characterizing the Motor Skills in Children with Specific Language Impairment. 61
30541007 2019
43
Specific Language Impairment and Reading Disability: Categorical Distinction or Continuum? 61
29790413 2019
44
Pragmatic abilities in children with neurodevelopmental disorders: development of Pragmatic Abilities Questionnaire based on the Rasch rating scale model. 61
31496847 2019
45
Referential Cohesion in the Narratives of Bilingual and Monolingual Children With Typically Developing Language and With Specific Language Impairment. 61
30950755 2019
46
Language Skill Mediates the Relationship Between Language Load and Articulatory Variability in Children With Language and Speech Sound Disorders. 61
30515517 2018
47
[Use of the 2D:4D digit ratio as a biological marker of specific language disorders]. 61
29625804 2018
48
The Promise-and Challenge-of Statistical Learning for Elucidating Atypical Language Development. 61
30587882 2018
49
Concise tool based on language milestones identifies children with specific language impairment at 24-45 months of age. 61
30256455 2018
50
[Multilingual children and language impairment]. 61
30095349 2018

Variations for Dysphasia, Familial Developmental

Expression for Dysphasia, Familial Developmental

Search GEO for disease gene expression data for Dysphasia, Familial Developmental.

Pathways for Dysphasia, Familial Developmental

GO Terms for Dysphasia, Familial Developmental

Sources for Dysphasia, Familial Developmental

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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