MCID: SYN070
MIFTS: 7

Syngap1-Related Non-Syndromic Intellectual Disability

Categories: Rare 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 50
Syngap1 Gene Mutation Linked to Intellectual Disability, Schizophrenia and Autism 50
Mental Retardation, Autosomal Dominant 5 69
Syngap1-Related Nsid 50
Syngap1 Syndrome 50
Mrd5 50

Classifications:



Summaries for Syngap1-Related Non-Syndromic Intellectual Disability

NIH Rare Diseases : 50 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. last updated: 6/16/2015

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 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:

id Related Disease Score Top Affiliating Genes
1 syngap1-related intellectual disability 10.8

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
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
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48 NDF-RT
51 NINDS
52 Novoseek
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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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