MCID: SPC023
MIFTS: 13

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 57 75 6 40 73
Sli5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
specific language impairment 5:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 615432
MeSH 44 D007805
SNOMED-CT via HPO 69 263681008 224958001 62305002
UMLS 73 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)

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). Affiliated tissues include brain, and related phenotypes are autistic behavior and global developmental delay

UniProtKB/Swiss-Prot : 75 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 autistic behavior 32 HP:0000729
2 global developmental delay 32 occasional (7.5%) HP:0001263
3 language impairment 32 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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