MRD5
MCID: SYN070
MIFTS: 10

Syngap1-Related Non-Syndromic Intellectual Disability (MRD5)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, 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 52
Syngap1 Gene Mutation Linked to Intellectual Disability, Schizophrenia and Autism 52
Autosomal Dominant Intellectual Disability 5 52
Mental Retardation, Autosomal Dominant 5 71
Syngap1-Related Nsid 52
Syngap1 Syndrome 52
Mrd5 52

Classifications:



External Ids:

UMLS 71 C2675473

Summaries for Syngap1-Related Non-Syndromic Intellectual Disability

NIH Rare Diseases : 52 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

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

Articles related to Syngap1-Related Non-Syndromic Intellectual Disability:

# Title Authors PMID Year
1
SYNGAP1 mutations: Clinical, genetic, and pathophysiological features. 61
31454529 2019
2
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient. 61
30572772 2018

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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