MCID: SYN073
MIFTS: 7

Syngap1-Related Intellectual Disability

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Syngap1-Related Intellectual Disability

MalaCards integrated aliases for Syngap1-Related Intellectual Disability:

Name: Syngap1-Related Intellectual Disability 24
Mental Retardation, Autosomal Dominant 5 69
Mrd5 24

Classifications:



External Ids:

UMLS 69 C2675473

Summaries for Syngap1-Related Intellectual Disability

Genetics Home Reference : 24 SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.

MalaCards based summary : Syngap1-Related Intellectual Disability, also known as mental retardation, autosomal dominant 5, is related to syngap1-related non-syndromic intellectual disability, and has symptoms including seizures

Related Diseases for Syngap1-Related Intellectual Disability

Diseases related to Syngap1-Related Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syngap1-related non-syndromic intellectual disability 10.9

Symptoms & Phenotypes for Syngap1-Related Intellectual Disability

UMLS symptoms related to Syngap1-Related Intellectual Disability:


seizures

Drugs & Therapeutics for Syngap1-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Syngap1-Related Intellectual Disability

Genetic Tests for Syngap1-Related Intellectual Disability

Anatomical Context for Syngap1-Related Intellectual Disability

Publications for Syngap1-Related Intellectual Disability

Variations for Syngap1-Related Intellectual Disability

Expression for Syngap1-Related Intellectual Disability

Search GEO for disease gene expression data for Syngap1-Related Intellectual Disability.

Pathways for Syngap1-Related Intellectual Disability

GO Terms for Syngap1-Related Intellectual Disability

Sources for Syngap1-Related Intellectual Disability

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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