SLI1
MCID: SPC027
MIFTS: 16

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 58 74
Specific Language Impairment Qtl, 1 58 13
Specific Language Impairment Quantitative Trait Locus on Chromosome 16 58
Language Impairment, Specific, Type 1 41
Sli1 58

Characteristics:

OMIM:

58
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:

33
specific language impairment 1:
Inheritance heterogeneous multifactorial inheritance


Classifications:



External Ids:

OMIM 58 606711
MedGen 43 C1847614
UMLS 74 C1847614

Summaries for Specific Language Impairment 1

OMIM : 58 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)

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 11.7
2 specific language impairment 5 11.2
3 dysphasia, familial developmental 10.1

Symptoms & Phenotypes for Specific Language Impairment 1

Human phenotypes related to Specific Language Impairment 1:

33
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 33 HP:0000750
2 language impairment 33 HP:0002463
3 deficit in phonologic short-term memory 33 HP:0002549
4 deficit in nonword repetition 33 HP:0002526

Symptoms via clinical synopsis from OMIM:

58
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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....