MRD5
MCID: SYN073
MIFTS: 26

Syngap1-Related Intellectual Disability (MRD5)

Categories: Blood diseases, Ear diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syngap1-Related Intellectual Disability

MalaCards integrated aliases for Syngap1-Related Intellectual Disability:

Name: Syngap1-Related Intellectual Disability 25 43
Syngap1-Related Developmental and Epileptic Encephalopathy 58 29
Syngap1-Related Developmental Epileptic Encephalopathy 25
Mental Retardation, Autosomal Dominant 5 71
Syngap1-Related Dee 58
Mrd5 43

Characteristics:

GeneReviews:

25
Penetrance Penetrance is 100%. all individuals with germline pathogenic variants in syngap1 have developmental delay, cognitive dysfunction, intellectual disability, and/or epilepsy.

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Syngap1-Related Intellectual Disability

MedlinePlus Genetics : 43 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 syngap1-related developmental and epileptic encephalopathy, is related to autosomal dominant non-syndromic intellectual disability 5 and syngap1-related non-syndromic intellectual disability, and has symptoms including seizures An important gene associated with Syngap1-Related Intellectual Disability is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1). Affiliated tissues include eye and tongue, and related phenotypes are global developmental delay and abnormality of pain sensation

Wikipedia : 74 SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that... more...

GeneReviews: NBK537721

Related Diseases for Syngap1-Related Intellectual Disability

Graphical network of the top 20 diseases related to Syngap1-Related Intellectual Disability:



Diseases related to Syngap1-Related Intellectual Disability

Symptoms & Phenotypes for Syngap1-Related Intellectual Disability

Human phenotypes related to Syngap1-Related Intellectual Disability:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormality of pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0010832
3 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
6 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
7 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
8 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 poor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002370
11 abnormal eating behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100738
12 eating-induced seizure 58 31 frequent (33%) Frequent (79-30%) HP:0020208
13 hypotonia 31 frequent (33%) HP:0001252
14 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
16 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
17 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
18 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
19 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
20 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
21 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
22 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
23 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
24 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
25 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
26 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
27 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
28 impaired social interactions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000735
29 postaxial polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100259
30 obsessive-compulsive trait 58 31 occasional (7.5%) Occasional (29-5%) HP:0008770
31 recurrent hand flapping 58 31 occasional (7.5%) Occasional (29-5%) HP:0100023
32 anteverted ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0040080
33 abnormal subarachnoid space morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012703
34 abnormal tongue physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030810
35 myoclonic absence seizure 31 occasional (7.5%) HP:0011150
36 intellectual disability 58 Very frequent (99-80%)
37 muscular hypotonia 58 Frequent (79-30%)
38 behavioral abnormality 58 Frequent (79-30%)
39 delayed speech and language development 58 Very frequent (99-80%)
40 abnormal facial shape 58 Frequent (79-30%)
41 autistic behavior 58 Frequent (79-30%)
42 generalized-onset seizure 58 Very frequent (99-80%)
43 myoclonic absence 58 Occasional (29-5%)

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

Genetic tests related to Syngap1-Related Intellectual Disability:

# Genetic test Affiliating Genes
1 Syngap1-Related Developmental and Epileptic Encephalopathy 29

Anatomical Context for Syngap1-Related Intellectual Disability

MalaCards organs/tissues related to Syngap1-Related Intellectual Disability:

40
Eye, Tongue

Publications for Syngap1-Related Intellectual Disability

Articles related to Syngap1-Related Intellectual Disability:

(show all 19)
# Title Authors PMID Year
1
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. 25
28576131 2017
2
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 25
26989088 2016
3
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. 25
26079862 2015
4
Large-scale discovery of novel genetic causes of developmental disorders. 25
25533962 2015
5
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25
25167861 2014
6
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 25
23708187 2013
7
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment. 25
23687080 2013
8
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 25
23161826 2013
9
Diagnostic exome sequencing in persons with severe intellectual disability. 25
23033978 2012
10
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 25
23020937 2012
11
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). 25
22050443 2011
12
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 25
21237447 2011
13
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 25
21376300 2011
14
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 25
21119708 2011
15
A de novo paradigm for mental retardation. 25
21076407 2010
16
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. 25
20683986 2010
17
Functional impact of global rare copy number variation in autism spectrum disorders. 25
20531469 2010
18
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 25
19196676 2009
19
SYNGAP1-Related Intellectual Disability 61
30789692 2019

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
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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