MCID: FXP001
MIFTS: 13

Foxp2-Related Speech and Language Disorders

Aliases & Classifications for Foxp2-Related Speech and Language Disorders

MalaCards integrated aliases for Foxp2-Related Speech and Language Disorders:

Name: Foxp2-Related Speech and Language Disorders 24
Speech and Language Disorder with Orofacial Dyspraxia 25
Foxp2-Related Speech and Language Disorder 25
Apraxia, Developmental Verbal 72

Characteristics:

GeneReviews:

24
Penetrance The penetrance for this severe speech and language disorder is high, close to 100% based on reported cases.

External Ids:

UMLS 72 C0750927

Summaries for Foxp2-Related Speech and Language Disorders

Genetics Home Reference : 25 FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as apraxia, which makes it difficult to produce sequences of sounds, syllables, and words. This condition results from abnormalities involving parts of the brain that plan and coordinate movements of the lips, mouth, and tongue. Children with apraxia typically say their first words later than other children. Their speech is often difficult to understand, although the clarity of speech improves somewhat over time. Some affected individuals also cannot cough, sneeze, or clear their throats. FOXP2 In addition to having problems with producing speech (expressive language), people with FOXP2-related speech and language disorder may have difficulty with understanding speech (receptive language). Some also have trouble with other language-related skills, such as reading, writing, spelling, and grammar. In some affected individuals, problems with speech and language are the only features of the condition. Others also have delayed development in other areas, including motor skills such as walking and tying shoelaces, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. FOXP2

MalaCards based summary : Foxp2-Related Speech and Language Disorders, also known as speech and language disorder with orofacial dyspraxia, is related to speech and communication disorders and autism spectrum disorder. An important gene associated with Foxp2-Related Speech and Language Disorders is FOXP2 (Forkhead Box P2). Affiliated tissues include brain and tongue.

GeneReviews: NBK368474

Related Diseases for Foxp2-Related Speech and Language Disorders

Diseases related to Foxp2-Related Speech and Language Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 speech and communication disorders 10.3
2 autism spectrum disorder 10.3
3 apraxia 10.3
4 expressive language disorder 10.3
5 speech disorder 10.3
6 childhood apraxia of speech 10.3
7 uniparental disomy of chromosome 7 10.3
8 maternal uniparental disomy 10.3

Graphical network of the top 20 diseases related to Foxp2-Related Speech and Language Disorders:



Diseases related to Foxp2-Related Speech and Language Disorders

Symptoms & Phenotypes for Foxp2-Related Speech and Language Disorders

Drugs & Therapeutics for Foxp2-Related Speech and Language Disorders

Search Clinical Trials , NIH Clinical Center for Foxp2-Related Speech and Language Disorders

Genetic Tests for Foxp2-Related Speech and Language Disorders

Anatomical Context for Foxp2-Related Speech and Language Disorders

MalaCards organs/tissues related to Foxp2-Related Speech and Language Disorders:

41
Brain, Tongue

Publications for Foxp2-Related Speech and Language Disorders

Articles related to Foxp2-Related Speech and Language Disorders:

(show all 45)
# Title Authors PMID Year
1
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. 4
27572252 2017
2
Early neuroimaging markers of FOXP2 intragenic deletion. 4
27734906 2016
3
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. 4
26763793 2016
4
Monoallelic expression of the human FOXP2 speech gene. 4
25422445 2015
5
A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer. 4
26300977 2015
6
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2. 4
26060509 2015
7
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. 4
24807205 2014
8
A systematic review of treatment outcomes for children with childhood apraxia of speech. 4
24686844 2014
9
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. 4
23918746 2013
10
Motor and speech disorders in classic galactosemia. 4
23546812 2013
11
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. 4
22766611 2012
12
Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families. 4
22105961 2012
13
Phenotype of FOXP2 haploinsufficiency in a mother and son. 4
22106036 2012
14
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 4
22144704 2012
15
Interventions for children's language and literacy difficulties. 4
22268899 2012
16
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention. 4
22754604 2011
17
Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. 4
20966389 2011
18
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. 4
20858596 2010
19
The phenotype of Floating-Harbor syndrome in 10 patients. 4
20358590 2010
20
Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. 4
19797137 2009
21
Speech therapy for children with dysarthria acquired before three years of age. 4
19821391 2009
22
Intervention for childhood apraxia of speech. 4
18646142 2008
23
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. 4
17330859 2007
24
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. 4
17033973 2006
25
Functional genetic analysis of mutations implicated in a human speech and language disorder. 4
16984964 2006
26
Measuring the intelligibility of conversational speech in children. 4
16644588 2006
27
Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. 4
16787893 2006
28
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. 4
16470794 2006
29
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. 4
15877281 2005
30
FOXP2 and the neuroanatomy of speech and language. 4
15685218 2005
31
Phonological development: a normative study of British English-speaking children. 4
14977026 2003
32
Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. 4
12655497 2003
33
Speech and language therapy interventions for children with primary speech and language delay or disorder. 4
12918003 2003
34
FOXP2 is not a major susceptibility gene for autism or specific language impairment. 4
11894222 2002
35
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia. 4
11872604 2002
36
A forkhead-domain gene is mutated in a severe speech and language disorder. 4
11586359 2001
37
Oral dyspraxia in inherited speech and language impairment and acquired dysphasia. 4
11023636 2000
38
Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases. 4
11004132 2000
39
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. 4
10880297 2000
40
Neural basis of an inherited speech and language disorder. 4
9770548 1998
41
Localisation of a gene implicated in a severe speech and language disorder. 4
9462748 1998
42
Developmental apraxia of speech: I. Descriptive and theoretical perspectives. 4
9130199 1997
43
Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. 4
7846081 1995
44
The phonological system of a specifically language-impaired population. 4
21749311 1995
45
FOXP2-Related Speech and Language Disorders 38
27336128 2016

Variations for Foxp2-Related Speech and Language Disorders

Expression for Foxp2-Related Speech and Language Disorders

Search GEO for disease gene expression data for Foxp2-Related Speech and Language Disorders.

Pathways for Foxp2-Related Speech and Language Disorders

GO Terms for Foxp2-Related Speech and Language Disorders

Sources for Foxp2-Related Speech and Language Disorders

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73 UMLS via Orphanet
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