Details of Disease

General Information of Disease (ID: DISIR974)

Disease Name Childhood apraxia of speech
Synonyms
speech-language disorder 1; speech-language disorder-1; das; articulatory apraxia; developmental apraxia of speech; SPCH1; developmental verbal apraxia; speech-language disorder type 1; CAS; developmental verbal dyspraxia; speech and language disorder with orofacial dyspraxia; childhood apraxia of speech
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISTEUX8: Specific language disorder
DISIR974: Childhood apraxia of speech
Disease Identifiers
MONDO ID
MONDO_0011184
MESH ID
D001072
UMLS CUI
C0750927
OMIM ID
602081
MedGen ID
152917
Orphanet ID
209908
SNOMED CT ID
229703009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BCL11A TTR61MW Limited Biomarker [1]
CSE1L TTTRULD moderate Genetic Variation [2]
IL1R2 TT51DEV Strong Biomarker [3]
MMP12 TTXZ0KQ Strong Biomarker [4]
PRKCI TTWJTHX Strong Biomarker [5]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BCAR1 OTKT2C2N Strong Genetic Variation [2]
CTNND1 OTUMPSHR Strong Genetic Variation [2]
ERC1 OTYBGGNO Strong Genetic Variation [6]
FOXP2 OTVX6A59 Strong Autosomal dominant [7]
GALT OTCATU66 Strong Genetic Variation [8]
NDP OTGDJ4US Strong Biomarker [9]
PSD OTUZIXUZ Strong Biomarker [10]
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⏷ Show the Full List of 7 DOT(s)

References

1 Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.PLoS One. 2016 Apr 27;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 2016.
2 Peri-procedural brain lesions prevention in CAS (3PCAS): Randomized trial comparing CGuard?stent vs. Wallstent?"Capoccia L. Mansour W
3 The anti-inflammatory effect of microRNA-383-3p interacting with IL1R2 against homocysteine-induced endothelial injury in rat coronary arteries.J Cell Biochem. 2018 Aug;119(8):6684-6694. doi: 10.1002/jcb.26854. Epub 2018 Apr 25.
4 Correlations of MMP-1, MMP-3, and MMP-12 with the degree of atherosclerosis, plaque stability and cardiovascular and cerebrovascular events.Exp Ther Med. 2018 Feb;15(2):1994-1998. doi: 10.3892/etm.2017.5623. Epub 2017 Dec 12.
5 Regulation of programmed cell death ligand 1 expression by atypical protein kinase C lambda/iota in cutaneous angiosarcoma.Cancer Sci. 2019 May;110(5):1780-1789. doi: 10.1111/cas.13981. Epub 2019 Mar 21.
6 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.Eur J Hum Genet. 2013 Jan;21(1):82-8. doi: 10.1038/ejhg.2012.116. Epub 2012 Jun 20.
7 An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol. 1990 Apr;32(4):352-5. doi: 10.1111/j.1469-8749.1990.tb16948.x.
8 Outcomes analysis of verbal dyspraxia in classic galactosemia.Genet Med. 2000 Mar-Apr;2(2):142-8. doi: 10.1097/00125817-200003000-00005.
9 Interventions for childhood apraxia of speech.Cochrane Database Syst Rev. 2018 May 30;5(5):CD006278. doi: 10.1002/14651858.CD006278.pub3.
10 Estimates of the prevalence of speech and motor speech disorders in adolescents with Down syndrome.Clin Linguist Phon. 2019;33(8):772-789. doi: 10.1080/02699206.2019.1595735.