SLI1
MCID: SPC027
MIFTS: 19

Specific Language Impairment 1 (SLI1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Specific Language Impairment 1

MalaCards integrated aliases for Specific Language Impairment 1:

Name: Specific Language Impairment 1 57 70
Specific Language Impairment Qtl, 1 57 13
Specific Language Impairment Quantitative Trait Locus on Chromosome 16 57
Language Impairment, Specific, Type 1 39
Sli1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
multifactorial

Miscellaneous:
phenotypic variation (may affect language expression, reception, and/or articulation)
prevalence of 2-7% in english-speaking preschool children
genetic heterogeneity (sli2 )
see speech-language disorder 1 for similar disorders


HPO:

31
specific language impairment 1:
Inheritance multifactorial inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 606711
OMIM Phenotypic Series 57 PS606711
MedGen 41 C1847614
UMLS 70 C1847614

Summaries for Specific Language Impairment 1

OMIM® : 57 Specific language impairment (SLI) is a common developmental disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors (summary by Newbury et al., 2009). (606711) (Updated 20-May-2021)

MalaCards based summary : Specific Language Impairment 1, also known as specific language impairment qtl, 1, is related to specific language impairment and specific language impairment 5. An important gene associated with Specific Language Impairment 1 is SLI1 (Specific Language Impairment QTL, 1). Related phenotypes are delayed speech and language development and language impairment

Related Diseases for Specific Language Impairment 1

Diseases in the Specific Language Impairment family:

Specific Language Impairment 1 Specific Language Impairment 2
Specific Language Impairment 3 Specific Language Impairment 4
Specific Language Impairment 5

Diseases related to Specific Language Impairment 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 specific language impairment 11.1
2 specific language impairment 5 11.0
3 dysphasia, familial developmental 9.9
4 specific language impairment 2 9.9
5 specific language impairment 4 9.9

Graphical network of the top 20 diseases related to Specific Language Impairment 1:



Diseases related to Specific Language Impairment 1

Symptoms & Phenotypes for Specific Language Impairment 1

Human phenotypes related to Specific Language Impairment 1:

31
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 language impairment 31 HP:0002463
3 deficit in phonologic short-term memory 31 HP:0002549
4 deficit in nonword repetition 31 HP:0002526

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
deficit in phonologic short-term memory
normal intelligence
language development deficit
no other neurologic deficits
deficit in nonword repetition (nwr)
more

Clinical features from OMIM®:

606711 (Updated 20-May-2021)

Drugs & Therapeutics for Specific Language Impairment 1

Search Clinical Trials , NIH Clinical Center for Specific Language Impairment 1

Genetic Tests for Specific Language Impairment 1

Anatomical Context for Specific Language Impairment 1

Publications for Specific Language Impairment 1

Articles related to Specific Language Impairment 1:

(show all 12)
# Title Authors PMID Year
1
CMIP and ATP2C2 modulate phonological short-term memory in language impairment. 57 61
19646677 2009
2
Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. 57 61
15133743 2004
3
A major susceptibility locus for specific language impairment is located on 13q21. 57
12048648 2002
4
A genomewide scan identifies two novel loci involved in specific language impairment. 57
11791209 2002
5
Slit1 Protein Regulates SVZ-Derived Precursor Mobilization in the Adult Demyelinated CNS. 61
32670024 2020
6
Defenses against Virus and Vector: A Phloem-Biological Perspective on RTM- and SLI1-Mediated Resistance to Potyviruses and Aphids. 61
31979012 2020
7
SIEVE ELEMENT-LINING CHAPERONE1 Restricts Aphid Feeding on Arabidopsis during Heat Stress. 61
28970334 2017
8
Analysis of immune-related ESTs and differential expression analysis of few important genes in lines of rohu (Labeo rohita) selected for resistance and susceptibility to Aeromonas hydrophila infection. 61
25081649 2014
9
Production of tetraacetyl phytosphingosine (TAPS) in Wickerhamomyces ciferrii is catalyzed by acetyltransferases Sli1p and Atf2p. 61
23318835 2013
10
Association of D16S515 microsatellite with specific language impairment on Robinson Crusoe Island, an isolated Chilean population: a possible key to understanding language development. 61
21082909 2010
11
Multivariate linkage analysis of specific language impairment (SLI). 61
17388790 2007
12
SLI1 (YGR212W) is a major gene conferring resistance to the sphingolipid biosynthesis inhibitor ISP-1, and encodes an ISP-1 N-acetyltransferase in yeast. 61
15025559 2004

Variations for Specific Language Impairment 1

Expression for Specific Language Impairment 1

Search GEO for disease gene expression data for Specific Language Impairment 1.

Pathways for Specific Language Impairment 1

GO Terms for Specific Language Impairment 1

Sources for Specific Language Impairment 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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