MCID: SYN070
MIFTS: 16

Syngap1-Related Non-Syndromic Intellectual Disability

Categories: Rare diseases, Mental diseases, Neuronal 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 49
Syngap1 Gene Mutation Linked to Intellectual Disability, Schizophrenia and Autism 49
Mental Retardation, Autosomal Dominant 5 69
Syngap1-Related Nsid 49
Syngap1 Syndrome 49
Mrd5 49

Characteristics:

HPO:

31
syngap1-related non-syndromic intellectual disability:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Syngap1-Related Non-Syndromic Intellectual Disability

NIH Rare Diseases : 49 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 microcephaly, torticollis and autistic behavior.

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 syngap1-related intellectual disability 10.9

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

Human phenotypes related to Syngap1-Related Non-Syndromic Intellectual Disability:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 torticollis 31 occasional (7.5%) HP:0000473
3 autistic behavior 31 HP:0000729
4 intellectual disability 31 HP:0001249
5 seizures 31 very rare (1%) HP:0001250
6 muscular hypotonia 31 HP:0001252
7 global developmental delay 31 HP:0001263
8 motor delay 31 HP:0001270
9 generalized hypotonia 31 HP:0001290
10 eeg abnormality 31 HP:0002353
11 developmental regression 31 HP:0002376
12 language impairment 31 HP:0002463
13 epileptic encephalopathy 31 occasional (7.5%) HP:0200134

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
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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