MCID: ATS387
MIFTS: 17

Autosomal Dominant Non-Syndromic Intellectual Disability 5

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 5

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 5:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 5 12 15
Mental Retardation, Autosomal Dominant 5 74
Mrd5 12

Characteristics:

HPO:

33
autosomal dominant non-syndromic intellectual disability 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SYNGAP1 on chromosome 6p21.32.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 5, also known as mental retardation, autosomal dominant 5, is related to syngap1-related intellectual disability and syngap1-related non-syndromic intellectual disability, and has symptoms including seizures An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 5 is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1). Related phenotypes are microcephaly and epileptic encephalopathy

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 5:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 epileptic encephalopathy 33 occasional (7.5%) HP:0200134
3 torticollis 33 occasional (7.5%) HP:0000473
4 seizures 33 very rare (1%) HP:0001250
5 intellectual disability 33 HP:0001249
6 eeg abnormality 33 HP:0002353
7 developmental regression 33 HP:0002376
8 global developmental delay 33 HP:0001263
9 motor delay 33 HP:0001270
10 generalized hypotonia 33 HP:0001290
11 autistic behavior 33 HP:0000729
12 language impairment 33 HP:0002463

UMLS symptoms related to Autosomal Dominant Non-Syndromic Intellectual Disability 5:


seizures

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 5:

# Title Authors Year
1
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. ( 23161826 )
2013
2
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )
2013
3
Diagnostic exome sequencing in persons with severe intellectual disability. ( 23033978 )
2012
4
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. ( 21237447 )
2011
5
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. ( 19196676 )
2009

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 5

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 5:

6 (show top 50) (show all 337)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNGAP1 NM_006772.2(SYNGAP1): c.412A> T (p.Lys138Ter) single nucleotide variant Pathogenic rs121918315 GRCh37 Chromosome 6, 33400486: 33400486
2 SYNGAP1 NM_006772.2(SYNGAP1): c.412A> T (p.Lys138Ter) single nucleotide variant Pathogenic rs121918315 GRCh38 Chromosome 6, 33432709: 33432709
3 SYNGAP1 NM_006772.2(SYNGAP1): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic rs121918316 GRCh37 Chromosome 6, 33408564: 33408564
4 SYNGAP1 NM_006772.2(SYNGAP1): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic rs121918316 GRCh38 Chromosome 6, 33440787: 33440787
5 SYNGAP1 NM_006772.2(SYNGAP1): c.2438delT (p.Leu813Argfs) deletion Pathogenic rs397515320 GRCh37 Chromosome 6, 33410767: 33410767
6 SYNGAP1 NM_006772.2(SYNGAP1): c.2438delT (p.Leu813Argfs) deletion Pathogenic rs397515320 GRCh38 Chromosome 6, 33442990: 33442990
7 SYNGAP1 SYNGAP1, 501, G-A, -1 single nucleotide variant Pathogenic
8 SYNGAP1 SYNGAP1, 1-BP DEL, 2677C deletion Pathogenic
9 SYNGAP1 SYNGAP1, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
10 SYNGAP1 SYNGAP1, TRP362ARG single nucleotide variant Pathogenic
11 SYNGAP1 NM_006772.2(SYNGAP1): c.1685C> T (p.Pro562Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397514670 GRCh37 Chromosome 6, 33408514: 33408514
12 SYNGAP1 NM_006772.2(SYNGAP1): c.1685C> T (p.Pro562Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397514670 GRCh38 Chromosome 6, 33440737: 33440737
13 SYNGAP1 NM_006772.2(SYNGAP1): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs397514741 GRCh37 Chromosome 6, 33400501: 33400501
14 SYNGAP1 NM_006772.2(SYNGAP1): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs397514741 GRCh38 Chromosome 6, 33432724: 33432724
15 SYNGAP1 SYNGAP1, TRP267TER undetermined variant Pathogenic
16 SYNGAP1 NM_006772.2(SYNGAP1): c.1536A> G (p.Glu512=) single nucleotide variant Benign rs7759963 GRCh37 Chromosome 6, 33406556: 33406556
17 SYNGAP1 NM_006772.2(SYNGAP1): c.1536A> G (p.Glu512=) single nucleotide variant Benign rs7759963 GRCh38 Chromosome 6, 33438779: 33438779
18 SYNGAP1 NM_006772.2(SYNGAP1): c.1783del (p.Leu595Cysfs) deletion Pathogenic rs587780470 GRCh37 Chromosome 6, 33408612: 33408612
19 SYNGAP1 NM_006772.2(SYNGAP1): c.1783del (p.Leu595Cysfs) deletion Pathogenic rs587780470 GRCh38 Chromosome 6, 33440835: 33440835
20 SYNGAP1 NM_006772.2(SYNGAP1): c.198C> T (p.Pro66=) single nucleotide variant Benign rs73402305 GRCh37 Chromosome 6, 33393583: 33393583
21 SYNGAP1 NM_006772.2(SYNGAP1): c.198C> T (p.Pro66=) single nucleotide variant Benign rs73402305 GRCh38 Chromosome 6, 33425806: 33425806
22 SYNGAP1 NM_006772.2(SYNGAP1): c.2602del (p.Asp868Thrfs) deletion Pathogenic rs587780474 GRCh37 Chromosome 6, 33410931: 33410931
23 SYNGAP1 NM_006772.2(SYNGAP1): c.2602del (p.Asp868Thrfs) deletion Pathogenic rs587780474 GRCh38 Chromosome 6, 33443154: 33443154
24 SYNGAP1 NM_006772.2(SYNGAP1): c.2970C> T (p.Ser990=) single nucleotide variant Benign rs61421477 GRCh37 Chromosome 6, 33411299: 33411299
25 SYNGAP1 NM_006772.2(SYNGAP1): c.2970C> T (p.Ser990=) single nucleotide variant Benign rs61421477 GRCh38 Chromosome 6, 33443522: 33443522
26 SYNGAP1 NM_006772.2(SYNGAP1): c.3344T> C (p.Ile1115Thr) single nucleotide variant Benign rs191549504 GRCh37 Chromosome 6, 33411673: 33411673
27 SYNGAP1 NM_006772.2(SYNGAP1): c.3344T> C (p.Ile1115Thr) single nucleotide variant Benign rs191549504 GRCh38 Chromosome 6, 33443896: 33443896
28 SYNGAP1 NM_006772.2(SYNGAP1): c.84T> C (p.Ser28=) single nucleotide variant Benign rs142359891 GRCh37 Chromosome 6, 33391270: 33391270
29 SYNGAP1 NM_006772.2(SYNGAP1): c.84T> C (p.Ser28=) single nucleotide variant Benign rs142359891 GRCh38 Chromosome 6, 33423493: 33423493
30 SYNGAP1 NM_006772.2(SYNGAP1): c.388-2A> G single nucleotide variant Pathogenic rs797045012 GRCh37 Chromosome 6, 33400460: 33400460
31 SYNGAP1 NM_006772.2(SYNGAP1): c.388-2A> G single nucleotide variant Pathogenic rs797045012 GRCh38 Chromosome 6, 33432683: 33432683
32 SYNGAP1 NM_006772.2(SYNGAP1): c.586T> C (p.Leu196=) single nucleotide variant Conflicting interpretations of pathogenicity rs145694123 GRCh38 Chromosome 6, 33435228: 33435228
33 SYNGAP1 NM_006772.2(SYNGAP1): c.586T> C (p.Leu196=) single nucleotide variant Conflicting interpretations of pathogenicity rs145694123 GRCh37 Chromosome 6, 33403005: 33403005
34 SYNGAP1 NM_006772.2(SYNGAP1): c.762+1G> T single nucleotide variant Pathogenic rs797046031 GRCh38 Chromosome 6, 33435614: 33435614
35 SYNGAP1 NM_006772.2(SYNGAP1): c.762+1G> T single nucleotide variant Pathogenic rs797046031 GRCh37 Chromosome 6, 33403391: 33403391
36 SYNGAP1 NM_006772.2(SYNGAP1): c.1576del (p.Val526Terfs) deletion Pathogenic rs797046028 GRCh38 Chromosome 6, 33438819: 33438819
37 SYNGAP1 NM_006772.2(SYNGAP1): c.1576del (p.Val526Terfs) deletion Pathogenic rs797046028 GRCh37 Chromosome 6, 33406596: 33406596
38 SYNGAP1 NM_006772.2(SYNGAP1): c.2066_2071delTCTCCAinsC (p.Leu689Profs) indel Pathogenic rs797046029 GRCh38 Chromosome 6, 33441325: 33441330
39 SYNGAP1 NM_006772.2(SYNGAP1): c.2066_2071delTCTCCAinsC (p.Leu689Profs) indel Pathogenic rs797046029 GRCh37 Chromosome 6, 33409102: 33409107
40 SYNGAP1 NM_006772.2(SYNGAP1): c.2583G> A (p.Ser861=) single nucleotide variant Conflicting interpretations of pathogenicity rs375587730 GRCh38 Chromosome 6, 33443135: 33443135
41 SYNGAP1 NM_006772.2(SYNGAP1): c.2583G> A (p.Ser861=) single nucleotide variant Conflicting interpretations of pathogenicity rs375587730 GRCh37 Chromosome 6, 33410912: 33410912
42 SYNGAP1 NM_006772.2(SYNGAP1): c.3324C> T (p.Ser1108=) single nucleotide variant Benign/Likely benign rs139841529 GRCh37 Chromosome 6, 33411653: 33411653
43 SYNGAP1 NM_006772.2(SYNGAP1): c.3324C> T (p.Ser1108=) single nucleotide variant Benign/Likely benign rs139841529 GRCh38 Chromosome 6, 33443876: 33443876
44 SYNGAP1 NM_006772.2(SYNGAP1): c.3592del (p.Tyr1198Thrfs) deletion Pathogenic rs797046030 GRCh37 Chromosome 6, 33414361: 33414361
45 SYNGAP1 NM_006772.2(SYNGAP1): c.3592del (p.Tyr1198Thrfs) deletion Pathogenic rs797046030 GRCh38 Chromosome 6, 33446584: 33446584
46 SYNGAP1 NM_006772.2(SYNGAP1): c.3834C> T (p.Pro1278=) single nucleotide variant Conflicting interpretations of pathogenicity rs555363112 GRCh38 Chromosome 6, 33447882: 33447882
47 SYNGAP1 NM_006772.2(SYNGAP1): c.3834C> T (p.Pro1278=) single nucleotide variant Conflicting interpretations of pathogenicity rs555363112 GRCh37 Chromosome 6, 33415659: 33415659
48 SYNGAP1 NM_006772.2(SYNGAP1): c.896delG (p.Arg299Profs) deletion Pathogenic rs863224930 GRCh38 Chromosome 6, 33437801: 33437801
49 SYNGAP1 NM_006772.2(SYNGAP1): c.896delG (p.Arg299Profs) deletion Pathogenic rs863224930 GRCh37 Chromosome 6, 33405578: 33405578
50 SYNGAP1 NM_006772.2(SYNGAP1): c.3583-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs869312674 GRCh37 Chromosome 6, 33414346: 33414346

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 5

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GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 5

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