MCID: SYN070
MIFTS: 10

Syngap1-Related Non-Syndromic Intellectual Disability

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Syngap1-Related Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Syngap1-Related Non-Syndromic Intellectual Disability:

Name: Syngap1-Related Non-Syndromic Intellectual Disability 53
Syngap1 Gene Mutation Linked to Intellectual Disability, Schizophrenia and Autism 53
Autosomal Dominant Intellectual Disability 5 53
Mental Retardation, Autosomal Dominant 5 73
Syngap1-Related Nsid 53
Syngap1 Syndrome 53
Mrd5 53

Classifications:



External Ids:

UMLS 73 C2675473

Summaries for Syngap1-Related Non-Syndromic Intellectual Disability

NIH Rare Diseases : 53 SYNGAP1-related non-syndromic intellectual disability is a condition that primarily affects the central nervous system. It is characterized by moderate to severe intellectual disability that is usually apparent in the first few years of life. Some affected people may also experience seizures and/or autism spectrum disorder. This condition is caused by changes (mutations) in the SYNGAP1 gene. Almost all reported cases are due to de novo mutations; however, the condition can be passed down to future generations in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Syngap1-Related Non-Syndromic Intellectual Disability, also known as syngap1 gene mutation linked to intellectual disability, schizophrenia and autism, is related to autosomal dominant non-syndromic intellectual disability 5 and syngap1-related intellectual disability, and has symptoms including seizures

Related Diseases for Syngap1-Related Non-Syndromic Intellectual Disability

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 5 10.9
2 syngap1-related intellectual disability 10.9

Symptoms & Phenotypes for Syngap1-Related Non-Syndromic Intellectual Disability

UMLS symptoms related to Syngap1-Related Non-Syndromic Intellectual Disability:


seizures

Drugs & Therapeutics for Syngap1-Related Non-Syndromic Intellectual Disability

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

Genetic Tests for Syngap1-Related Non-Syndromic Intellectual Disability

Anatomical Context for Syngap1-Related Non-Syndromic Intellectual Disability

Publications for Syngap1-Related Non-Syndromic Intellectual Disability

Variations for Syngap1-Related Non-Syndromic Intellectual Disability

Expression for Syngap1-Related Non-Syndromic Intellectual Disability

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

Pathways for Syngap1-Related Non-Syndromic Intellectual Disability

GO Terms for Syngap1-Related Non-Syndromic Intellectual Disability

Sources for Syngap1-Related Non-Syndromic Intellectual Disability

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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