Details of Disease | DrugMAP

General Information of Disease (ID: DISEKRML)

Disease Name	Specific language impairment
Synonyms	language impairment (disease)
Definition	A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
Disease Hierarchy	DISTLKP7: Language disorder DISD715V: Hereditary neurological disease DISEKRML: Specific language impairment
Disease Identifiers	MONDO ID MONDO_0000724 MESH ID D000080888 UMLS CUI C0454651 MedGen ID 627772 Orphanet ID 458713 SNOMED CT ID 229746007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGEF39	OT9UKTQ5	Limited	Genetic Variation	[1]
C4orf3	OT6TFN1O	Limited	Biomarker	[2]
CASK	OT8EF7ZF	Limited	Genetic Variation	[3]
EBPL	OT59J1GY	Limited	Biomarker	[4]
NAGPA	OTR0B67G	Limited	Biomarker	[5]
NFXL1	OT2Y5D15	Limited	Genetic Variation	[6]
ATP2C2	OTGIHTYQ	Strong	Biomarker	[7]
CCDC136	OTPOV391	Strong	Genetic Variation	[8]
CMIP	OTZN8Z4A	Strong	Genetic Variation	[9]
HLCS	OTPDUX30	Strong	Genetic Variation	[10]
INIP	OTU5A9A1	Strong	Genetic Variation	[8]
NRXN1	OTJN1JQA	Strong	Genetic Variation	[3]
RBFOX2	OTXY1WVH	Strong	Genetic Variation	[8]
SHC2	OTTWMRNQ	Strong	Biomarker	[11]
SYN1	OTMNPWC1	Strong	Genetic Variation	[12]
CNTNAP2	OT48T2ZP	Definitive	Biomarker	[13]
FOXP2	OTVX6A59	Definitive	Altered Expression	[14]
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⏷ Show the Full List of 17 DOT(s)

References

1	Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders.Mol Psychiatry. 2018 May;23(5):1375-1384. doi: 10.1038/mp.2017.30. Epub 2017 Mar 14.
2	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.
3	Neuronal cell adhesion genes: Key players in risk for schizophrenia, bipolar disorder and other neurodevelopmental brain disorders?.Cell Adh Migr. 2010 Oct-Dec;4(4):511-4. doi: 10.4161/cam.4.4.12460.
4	Implicit learning seems to come naturally for children with autism, but not for children with specific language impairment: Evidence from behavioral and ERP data.Autism Res. 2018 Jul;11(7):1050-1061. doi: 10.1002/aur.1954. Epub 2018 Apr 20.
5	A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.Neurobiol Dis. 2014 Sep;69:23-31. doi: 10.1016/j.nbd.2014.04.019. Epub 2014 May 5.
6	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.
7	Deletion of 16q24.1 supports a role for the ATP2C2 gene in specific language impairment.J Child Neurol. 2015 Mar;30(4):517-21. doi: 10.1177/0883073814545113. Epub 2014 Oct 7.
8	Genome-wide screening for DNA variants associated with reading and language traits.Genes Brain Behav. 2014 Sep;13(7):686-701. doi: 10.1111/gbb.12158. Epub 2014 Aug 29.
9	CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.Am J Med Genet A. 2017 Aug;173(8):2101-2107. doi: 10.1002/ajmg.a.38277. Epub 2017 May 15.
10	Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.Pediatrics. 2016 Apr;137(4):e20152469. doi: 10.1542/peds.2015-2469. Epub 2016 Mar 25.
11	A morpho-phonological Past Tense processing as a clinical marker in SLI EFL learners.Clin Linguist Phon. 2017;31(7-9):542-556. doi: 10.1080/02699206.2017.1283710. Epub 2017 Feb 15.
12	X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.Epilepsia. 2015 Jul;56(7):1098-108. doi: 10.1111/epi.13042. Epub 2015 Jun 19.
13	The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):536-43. doi: 10.1002/ajmg.b.32325. Epub 2015 Jun 19.
14	Sociability and synapse subtype-specific defects in mice lacking SRPX2, a language-associated gene.PLoS One. 2018 Jun 19;13(6):e0199399. doi: 10.1371/journal.pone.0199399. eCollection 2018.