SLI5
MCID: SPC023
MIFTS: 17

Specific Language Impairment 5 (SLI5)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Specific Language Impairment 5

MalaCards integrated aliases for Specific Language Impairment 5:

Name: Specific Language Impairment 5 57 72 29 6 70
Sli5 57 72
Language Impairment, Specific, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
some affected individuals have normal subsequent development
high prevalence in the east asian population

Inheritance:
autosomal dominant


HPO:

31
specific language impairment 5:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 615432
OMIM Phenotypic Series 57 PS606711
MeSH 44 D007805
SNOMED-CT via HPO 68 224958001 263681008 62305002
UMLS 70 C3809483

Summaries for Specific Language Impairment 5

OMIM® : 57 Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081). (615432) (Updated 05-Apr-2021)

MalaCards based summary : Specific Language Impairment 5, is also known as sli5. An important gene associated with Specific Language Impairment 5 is TM4SF20 (Transmembrane 4 L Six Family Member 20). Related phenotypes are global developmental delay and autistic behavior

UniProtKB/Swiss-Prot : 72 Specific language impairment 5: A disorder characterized by a delay in early speech acquisition. It is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable.

Related Diseases for Specific Language Impairment 5

Symptoms & Phenotypes for Specific Language Impairment 5

Human phenotypes related to Specific Language Impairment 5:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 autistic behavior 31 HP:0000729
3 language impairment 31 HP:0002463

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
communication defects
early speech delay

Neurologic Central Nervous System:
delayed development (in some patients)
t2-weighted hyperintensities in the periventricular and deep subcortical white matter

Clinical features from OMIM®:

615432 (Updated 05-Apr-2021)

Drugs & Therapeutics for Specific Language Impairment 5

Search Clinical Trials , NIH Clinical Center for Specific Language Impairment 5

Genetic Tests for Specific Language Impairment 5

Genetic tests related to Specific Language Impairment 5:

# Genetic test Affiliating Genes
1 Specific Language Impairment 5 29 TM4SF20

Anatomical Context for Specific Language Impairment 5

Publications for Specific Language Impairment 5

Articles related to Specific Language Impairment 5:

# Title Authors PMID Year
1
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. 57 6
23810381 2013

Variations for Specific Language Impairment 5

ClinVar genetic disease variations for Specific Language Impairment 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TM4SF20 TM4SF20, 4-KB DEL Deletion Pathogenic 243063 GRCh37: 2:228230759-228234864
GRCh38:
2 COL4A4 GRCh37/hg19 2q36.3(chr2:227939002-227943108) copy number loss Pathogenic 625777 GRCh37: 2:227939002-227943108
GRCh38:

Expression for Specific Language Impairment 5

Search GEO for disease gene expression data for Specific Language Impairment 5.

Pathways for Specific Language Impairment 5

GO Terms for Specific Language Impairment 5

Sources for Specific Language Impairment 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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