MCID: SPC023
MIFTS: 17

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 54 71 69
Sli5 71

Characteristics:

OMIM:

54
Miscellaneous:
high prevalence in the east asian population
incomplete penetrance
some affected individuals have normal subsequent development
highly variable phenotype

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 615432
MeSH 42 D007805

Summaries for Specific Language Impairment 5

OMIM : 54
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, language impairment and autistic behavior. An important gene associated with Specific Language Impairment 5 is TM4SF20 (Transmembrane 4 L Six Family Member 20). The drugs Dopamine and Antiparkinson Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and testes.

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

Diseases in the Specific Language Impairment family:

Specific Language Impairment 5 Specific Language Impairment 4

Symptoms & Phenotypes for Specific Language Impairment 5

Symptoms via clinical synopsis from OMIM:

54

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

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


Clinical features from OMIM:

615432

Human phenotypes related to Specific Language Impairment 5:

32
id Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 language impairment 32 HP:0002463
3 autistic behavior 32 HP:0000729

Drugs & Therapeutics for Specific Language Impairment 5

Drugs for Specific Language Impairment 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2 Antiparkinson Agents Phase 2
3 Autonomic Agents Phase 2
4 Catechol O-Methyltransferase Inhibitors Phase 2
5 Dopamine Agents Phase 2
6 Neurotransmitter Agents Phase 2
7 Peripheral Nervous System Agents Phase 2
8 Protective Agents Phase 2
9 Catechol Nutraceutical Phase 2
10
Triamcinolone Approved, Vet_approved 124-94-7 31307
11 triamcinolone acetonide
12 Triamcinolone diacetate
13 Triamcinolone hexacetonide

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effectiveness of Early Parent-Based Language Intervention Unknown status NCT00625261 Phase 3
2 Effects of Tolcapone on Frontotemporal Dementia Active, not recruiting NCT00604591 Phase 2 Tolcapone;Placebo
3 Characterization of Auditory Processing Involved in the Encoding of Speech Sounds Recruiting NCT02574299
4 Cerebral Haemodynamic Changes During Cognitive Testing: A fTCD Study Recruiting NCT03134963
5 Rhythmic Reading Training Compared to 'Abilmente' Method Recruiting NCT03199092
6 tDCS and Speech Therapy to Improve Aphasia Recruiting NCT02395874

Search 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:

39
Brain, Testes

Publications for Specific Language Impairment 5

Variations for Specific Language Impairment 5

ClinVar genetic disease variations for Specific Language Impairment 5:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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