MCID: SPC023
MIFTS: 14

Specific Language Impairment 5

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Specific Language Impairment 5

MalaCards integrated aliases for Specific Language Impairment 5:

Name: Specific Language Impairment 5 53 71 69
Sli5 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
some affected individuals have normal subsequent development
incomplete penetrance
high prevalence in the east asian population


HPO:

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


Classifications:



External Ids:

OMIM 53 615432
MeSH 41 D007805
SNOMED-CT via HPO 65 263681008 224958001 62305002
UMLS 69 C3809483

Summaries for Specific Language Impairment 5

OMIM : 53 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)

MalaCards based summary : Specific Language Impairment 5, is also known as sli5, and has symptoms including global developmental delay, autistic behavior and language impairment. An important gene associated with Specific Language Impairment 5 is TM4SF20 (Transmembrane 4 L Six Family Member 20). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
delayed development (in some patients)
t2-weighted hyperintensities in the periventricular and deep subcortical white matter

Neurologic Behavioral Psychiatric Manifestations:
early speech delay
communication defects
autism spectrum disorder


Clinical features from OMIM:

615432

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

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

Anatomical Context for Specific Language Impairment 5

MalaCards organs/tissues related to Specific Language Impairment 5:

38
Brain

Publications for Specific Language Impairment 5

Variations for Specific Language Impairment 5

ClinVar genetic disease variations for Specific Language Impairment 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TM4SF20 TM4SF20, 4-KB DEL deletion Pathogenic
2 TM4SF20 NC_000002.11: g.(?_228230759)_(228234864_?)del deletion Pathogenic GRCh37 Chromosome 2, 228230759: 228234864

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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