Details of Disease

General Information of Disease (ID: DISTLKP7)

• Disease Name: Language disorder
• Definition: A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.
• Disease Hierarchy:
  :
  DISTLKP7: Language disorder
• Disease Identifiers:
  MONDO ID: MONDO_0004750
  MESH ID: D007806
  UMLS CUI: C0023015
  MedGen ID: 44069
  HPO ID: HP:0002463
  SNOMED CT ID: 62305002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PSEN2	TTWN3F4	Limited	Genetic Variation	[1]
NR4A2	TT9HKN3	moderate	Biomarker	[2]
CHRNA7	TTLA931	Strong	Genetic Variation	[3]
DRD2	TTEX248	Strong	Biomarker	[4]
FOXP1	TT0MUCI	Strong	Biomarker	[5]
MAPT	TTS87KH	Strong	Genetic Variation	[6]
PPP2CA	TTHTKNY	Strong	Biomarker	[7]
TBK1	TTMP03S	Strong	Genetic Variation	[6]
PSEN1	TTZ3S8C	Definitive	Genetic Variation	[6]

This Disease Is Related to 28 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C4orf3	OT6TFN1O	Limited	Biomarker	[8]
NFXL1	OT2Y5D15	Limited	Genetic Variation	[9]
ARSD	OTAHW9M8	moderate	Biomarker	[10]
EN2	OT7EZCM2	moderate	Biomarker	[11]
IRGM	OTKD3O5Z	moderate	Genetic Variation	[12]
ANKK1	OT0OM1O0	Strong	Biomarker	[4]
ATP2C2	OTGIHTYQ	Strong	Genetic Variation	[13]
CELF4	OT4FS4F5	Strong	Genetic Variation	[14]
CMIP	OTZN8Z4A	Strong	Genetic Variation	[15]
CNTNAP2	OT48T2ZP	Strong	Altered Expression	[16]
COA7	OTRQJYL6	Strong	Biomarker	[17]
CUL5	OTMTZD47	Strong	Genetic Variation	[18]
DBI	OT884QY9	Strong	Biomarker	[19]
DCDC2	OTSUFH1H	Strong	Genetic Variation	[20]
ELP4	OTP5GZ9V	Strong	Genetic Variation	[21]
GPD2	OTV232Y7	Strong	Genetic Variation	[2]
KIAA0319	OTN42Y77	Strong	Biomarker	[22]
MDFIC	OTSRYBWZ	Strong	Genetic Variation	[23]
MED13L	OTSP1W0F	Strong	Genetic Variation	[24]
NDST4	OTEKG7JJ	Strong	Genetic Variation	[25]
NFKBIL1	OTYFTPS0	Strong	Genetic Variation	[26]
NPAT	OT1ZU6JB	Strong	Biomarker	[18]
PPP1R3A	OTJL9VYP	Strong	Genetic Variation	[23]
SHANK2	OTSQTPFQ	Strong	Genetic Variation	[3]
SHC2	OTTWMRNQ	Strong	Genetic Variation	[27]
SIM1	OTYKFPKZ	Strong	Genetic Variation	[28]
SRPX2	OT6A63TX	Strong	Biomarker	[29]
ADAMTS2	OTTK22NO	Definitive	Biomarker	[30]

References

• [1] A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.J Alzheimers Dis. 2009;16(3):509-11. doi: 10.3233/JAD-2009-0986.
• [2] Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.Am J Med Genet A. 2017 Aug;173(8):2231-2234. doi: 10.1002/ajmg.a.38288. Epub 2017 May 24.
• [3] Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.Clin Genet. 2013 Dec;84(6):560-5. doi: 10.1111/cge.12105. Epub 2013 Feb 21.
• [4] Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.PLoS One. 2013 May 15;8(5):e63762. doi: 10.1371/journal.pone.0063762. Print 2013.
• [5] Three Japanese patients with 3p13 microdeletions involving FOXP1.Brain Dev. 2019 Mar;41(3):257-262. doi: 10.1016/j.braindev.2018.10.016. Epub 2018 Nov 10.
• [6] Gene mutations in a Han Chinese Alzheimer's disease cohort.Brain Behav. 2019 Jan;9(1):e01180. doi: 10.1002/brb3.1180. Epub 2018 Dec 14.
• [7] De Novo Mutations Affecting the Catalytic C Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27.
• [8] Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives.Autism Res. 2009 Feb;2(1):22-38. doi: 10.1002/aur.63.
• [9] Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.PLoS Genet. 2015 Mar 17;11(3):e1004925. doi: 10.1371/journal.pgen.1004925. eCollection 2015 Mar.
• [10] A Spectrotemporal Correlate of Language Impairment in Autism Spectrum Disorder.J Autism Dev Disord. 2019 Aug;49(8):3181-3190. doi: 10.1007/s10803-019-04040-x.
• [11] The WNT2 gene polymorphism associated with speech delay inherent to autism.Res Dev Disabil. 2012 Sep-Oct;33(5):1533-40. doi: 10.1016/j.ridd.2012.03.004. Epub 2012 Apr 21.
• [12] Functional IRGM polymorphism is associated with language impairment in glioma and upregulates cytokine expressions.Tumour Biol. 2014 Aug;35(8):8343-8. doi: 10.1007/s13277-014-2091-x. Epub 2014 May 24.
• [13] Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.Autism Res. 2015 Apr;8(2):229-34. doi: 10.1002/aur.1436. Epub 2014 Dec 1.
• [14] Schoolchildren with unilateral or mild to moderate bilateral sensorineural hearing loss should be screened for neurodevelopmental problems.Acta Paediatr. 2020 Jul;109(7):1430-1438. doi: 10.1111/apa.15088. Epub 2019 Nov 26.
• [15] Decoding the genetics of speech and language.Curr Opin Neurobiol. 2013 Feb;23(1):43-51. doi: 10.1016/j.conb.2012.11.006. Epub 2012 Dec 7.
• [16] Associations between the CNTNAP2 gene, dorsolateral prefrontal cortex, and cognitive performance on the Stroop task.Neuroscience. 2017 Feb 20;343:21-29. doi: 10.1016/j.neuroscience.2016.11.021. Epub 2016 Dec 1.
• [17] Intelligibility of degraded speech and the relationship between symptoms of inattention, hyperactivity/impulsivity and language impairment in children with suspected auditory processing disorder.Int J Pediatr Otorhinolaryngol. 2017 Oct;101:178-185. doi: 10.1016/j.ijporl.2017.08.010. Epub 2017 Aug 12.
• [18] Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.PLoS One. 2013 Aug 16;8(8):e72056. doi: 10.1371/journal.pone.0072056. eCollection 2013.
• [19] Phenotypic subgrouping and multi-omics analyses reveal reduced diazepam-binding inhibitor (DBI) protein levels in autism spectrum disorder with severe language impairment.PLoS One. 2019 Mar 28;14(3):e0214198. doi: 10.1371/journal.pone.0214198. eCollection 2019.
• [20] The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.J Med Genet. 2016 Mar;53(3):163-71. doi: 10.1136/jmedgenet-2015-103418. Epub 2015 Dec 11.
• [21] Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30.
• [22] DCDC2, KIAA0319 and CMIP are associated with reading-related traits.Biol Psychiatry. 2011 Aug 1;70(3):237-45. doi: 10.1016/j.biopsych.2011.02.005. Epub 2011 Mar 31.
• [23] Phenotype of FOXP2 haploinsufficiency in a mother and son.Am J Med Genet A. 2012 Jan;158A(1):174-81. doi: 10.1002/ajmg.a.34354. Epub 2011 Nov 21.
• [24] Redefining the MED13L syndrome. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.
• [25] Genome-wide association study of shared components of reading disability and language impairment.Genes Brain Behav. 2013 Nov;12(8):792-801. doi: 10.1111/gbb.12085. Epub 2013 Oct 9.
• [26] Associations between autistic-like traits and polymorphisms in NFKBIL1.Acta Neuropsychiatr. 2019 Aug;31(4):220-229. doi: 10.1017/neu.2019.18. Epub 2019 Jun 4.
• [27] Putative miRNAs for the diagnosis of dyslexia, dyspraxia, and specific language impairment.Epigenetics. 2013 Oct;8(10):1023-9. doi: 10.4161/epi.26026. Epub 2013 Aug 15.
• [28] Associations between oxytocin-related genes and autistic-like traits.Soc Neurosci. 2014;9(4):378-86. doi: 10.1080/17470919.2014.897995. Epub 2014 Mar 17.
• [29] The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice.Science. 2013 Nov 22;342(6161):987-91. doi: 10.1126/science.1245079. Epub 2013 Oct 31.
• [30] Music therapy and Alzheimer's disease: Cognitive, psychological, and behavioural effects.Neurologia. 2017 Jun;32(5):300-308. doi: 10.1016/j.nrl.2015.12.003. Epub 2016 Feb 17.