MRD5
MCID: ATS387
MIFTS: 34

Autosomal Dominant Non-Syndromic Intellectual Disability 5 (MRD5)

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 70
Mrd5 12

Characteristics:

HPO:

31
autosomal dominant non-syndromic intellectual disability 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 5

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 5: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients.

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), and among its related pathways/superpathways is RAB geranylgeranylation. Affiliated tissues include eye, and related phenotypes are microcephaly and torticollis

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.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 18
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 syngap1-related intellectual disability 11.0
2 syngap1-related non-syndromic intellectual disability 11.0
3 non-syndromic intellectual disability 10.2 SYNGAP1 DLG3
4 partington x-linked mental retardation syndrome 10.0 ZNF674 ZNF526
5 carpenter syndrome 1 9.9 RAB5A RAB39B
6 syndromic x-linked intellectual disability siderius type 9.8 ZNF674 ZNF526 ZNF41
7 pitt-hopkins-like syndrome 2 9.8 ZNF674 ZNF526 ZNF41
8 charcot-marie-tooth disease x-linked recessive 4 9.7 ZNF81 ZNF41
9 borjeson-forssman-lehmann syndrome 9.7 ZNF81 ZNF41
10 autosomal recessive non-syndromic intellectual disability 9.5 ZNF81 ZNF674 SYNGAP1
11 aland island eye disease 9.5 ZNF81 ZNF41
12 autosomal dominant non-syndromic intellectual disability 4 9.4 ZNF81 ZNF674 ZNF526 ZNF41
13 syndromic x-linked intellectual disability 9.3 ZNF81 ZNF674 ZNF41 RAB39B
14 non-syndromic x-linked intellectual disability 9.0 ZNF81 ZNF674 ZNF526 ZNF41 RAB39B DLG3

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 5:



Diseases related to 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:

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

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 5:

40
Eye

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 5

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

(show all 21)
# Title Authors PMID Year
1
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
2
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. 6
30541864 2019
3
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 6
28708303 2018
4
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
5
Mutations in HECW2 are associated with intellectual disability and epilepsy. 6
27334371 2016
6
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
7
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 6
26989088 2016
8
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. 6
26079862 2015
9
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
11
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 6
25167861 2014
12
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 6
25418537 2014
13
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
14
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment. 6
23687080 2013
15
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 6
23161826 2013
16
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 6
21237447 2011
17
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. 6
20683986 2010
18
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 6
19196676 2009
19
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
20
SYNGAP1 mutations: Clinical, genetic, and pathophysiological features. 61
31454529 2019
21
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient. 61
30572772 2018

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 416)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYNGAP1 NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter) SNV Pathogenic 6392 rs121918315 GRCh37: 6:33400486-33400486
GRCh38: 6:33432709-33432709
2 SYNGAP1 NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) Deletion Pathogenic 6394 rs397515320 GRCh37: 6:33410767-33410767
GRCh38: 6:33442990-33442990
3 SYNGAP1 NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs) Deletion Pathogenic 41459 rs1581995953 GRCh37: 6:33411004-33411004
GRCh38: 6:33443227-33443227
4 SYNGAP1 NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg) SNV Pathogenic 41461 rs1581987445 GRCh37: 6:33405766-33405766
GRCh38: 6:33437989-33437989
5 SYNGAP1 NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) Deletion Pathogenic 130525 rs587780470 GRCh37: 6:33408611-33408611
GRCh38: 6:33440834-33440834
6 SYNGAP1 NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) Deletion Pathogenic 130528 rs587780474 GRCh37: 6:33410928-33410928
GRCh38: 6:33443151-33443151
7 SYNGAP1 NM_006772.3(SYNGAP1):c.388-2A>G SNV Pathogenic 208499 rs797045012 GRCh37: 6:33400460-33400460
GRCh38: 6:33432683-33432683
8 SYNGAP1 NM_006772.3(SYNGAP1):c.762+1G>T SNV Pathogenic 212358 rs797046031 GRCh37: 6:33403391-33403391
GRCh38: 6:33435614-33435614
9 SYNGAP1 NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer) Deletion Pathogenic 212348 rs797046028 GRCh37: 6:33406595-33406595
GRCh38: 6:33438818-33438818
10 SYNGAP1 NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs) Deletion Pathogenic 212354 rs797046030 GRCh37: 6:33414361-33414361
GRCh38: 6:33446584-33446584
11 SYNGAP1 NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs) Indel Pathogenic 212349 rs797046029 GRCh37: 6:33409102-33409107
GRCh38: 6:33441325-33441330
12 SYNGAP1 NM_006772.3(SYNGAP1):c.896del (p.Arg299fs) Deletion Pathogenic 217012 rs863224930 GRCh37: 6:33405578-33405578
GRCh38: 6:33437801-33437801
13 SYNGAP1 NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs) Deletion Pathogenic 224101 rs869312677 GRCh37: 6:33414557-33414563
GRCh38: 6:33446780-33446786
14 SYNGAP1 SYNGAP1, 501, G-A, -1 SNV Pathogenic 39664 GRCh37:
GRCh38:
15 SYNGAP1 SYNGAP1, TRP267TER Variation Pathogenic 60717 GRCh37:
GRCh38:
16 SYNGAP1 NC_000006.12:g.(?_33420245)_(33451926_?)del Deletion Pathogenic 831495 GRCh37: 6:33388022-33419703
GRCh38:
17 SYNGAP1 NC_000006.12:g.(?_33435132)_(33438311_?)del Deletion Pathogenic 833001 GRCh37: 6:33402909-33406088
GRCh38:
18 SYNGAP1 NM_006772.3(SYNGAP1):c.2576_2577GT[1] (p.Val860fs) Microsatellite Pathogenic 242918 rs879253762 GRCh37: 6:33410905-33410906
GRCh38: 6:33443128-33443129
19 SYNGAP1 NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs) Deletion Pathogenic 375621 rs1057519405 GRCh37: 6:33408512-33408512
GRCh38: 6:33440735-33440735
20 SYNGAP1 NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs) Deletion Pathogenic 375615 rs1057519400 GRCh37: 6:33408735-33408736
GRCh38: 6:33440958-33440959
21 SYNGAP1 NM_006772.3(SYNGAP1):c.3190C>T (p.Gln1064Ter) SNV Pathogenic 431134 rs1135401805 GRCh37: 6:33411519-33411519
GRCh38: 6:33443742-33443742
22 SYNGAP1 NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs) Duplication Pathogenic 469164 rs1554121189 GRCh37: 6:33405537-33405538
GRCh38: 6:33437760-33437761
23 SYNGAP1 NM_006772.3(SYNGAP1):c.384dup (p.Ser129fs) Duplication Pathogenic 469158 rs1554120498 GRCh37: 6:33400023-33400024
GRCh38: 6:33432246-33432247
24 SYNGAP1 NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs) Deletion Pathogenic 469144 rs1554121228 GRCh37: 6:33405734-33405734
GRCh38: 6:33437957-33437957
25 SYNGAP1 NM_006772.3(SYNGAP1):c.199del (p.Leu67fs) Deletion Pathogenic 536999 rs1554119814 GRCh37: 6:33393580-33393580
GRCh38: 6:33425803-33425803
26 SYNGAP1 NM_006772.3(SYNGAP1):c.3060del (p.Gln1021fs) Deletion Pathogenic 536990 rs1554122293 GRCh37: 6:33411388-33411388
GRCh38: 6:33443611-33443611
27 SYNGAP1 NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) Deletion Pathogenic 536991 rs1554122341 GRCh37: 6:33411559-33411562
GRCh38: 6:33443782-33443785
28 SYNGAP1 NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs) Duplication Pathogenic 567471 rs1561787845 GRCh37: 6:33409513-33409514
GRCh38: 6:33441736-33441737
29 SYNGAP1 NM_006772.3(SYNGAP1):c.2726del (p.Met909fs) Deletion Pathogenic 568262 rs1561789215 GRCh37: 6:33411055-33411055
GRCh38: 6:33443278-33443278
30 SYNGAP1 NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs) Duplication Pathogenic 569874 rs1561785003 GRCh37: 6:33405915-33405916
GRCh38: 6:33438138-33438139
31 SYNGAP1 NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs) Deletion Pathogenic 561122 rs1561788984 GRCh37: 6:33410890-33410906
GRCh38: 6:33443113-33443129
32 SYNGAP1 NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs) Deletion Pathogenic 571977 rs1561784687 GRCh37: 6:33405679-33405679
GRCh38: 6:33437902-33437902
33 SYNGAP1 NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs) Deletion Pathogenic 574599 rs1561787690 GRCh37: 6:33409376-33409383
GRCh38: 6:33441599-33441606
34 SYNGAP1 NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter) SNV Pathogenic 575167 rs1554122305 GRCh37: 6:33411453-33411453
GRCh38: 6:33443676-33443676
35 SYNGAP1 NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs) Deletion Pathogenic 576152 rs1561789313 GRCh37: 6:33411142-33411176
GRCh38: 6:33443365-33443399
36 SYNGAP1 NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter) SNV Pathogenic 576831 rs1554122888 GRCh37: 6:33415636-33415636
GRCh38: 6:33447859-33447859
37 SYNGAP1 NM_006772.3(SYNGAP1):c.878del (p.Arg293fs) Deletion Pathogenic 582839 rs1561784560 GRCh37: 6:33405560-33405560
GRCh38: 6:33437783-33437783
38 SYNGAP1 NM_006772.3(SYNGAP1):c.1532-3C>G SNV Pathogenic 619988 GRCh37: 6:33406549-33406549
GRCh38: 6:33438772-33438772
39 SYNGAP1 NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs) Deletion Pathogenic 619991 GRCh37: 6:33408563-33408567
GRCh38: 6:33440786-33440790
40 SYNGAP1 NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs) Deletion Pathogenic 620026 GRCh37: 6:33406261-33406261
GRCh38: 6:33438484-33438484
41 SYNGAP1 NM_006772.3(SYNGAP1):c.539dup (p.His181fs) Duplication Pathogenic 620049 rs1561783309 GRCh37: 6:33402957-33402958
GRCh38: 6:33435180-33435181
42 SYNGAP1 NM_006772.3(SYNGAP1):c.1094del (p.Val365fs) Deletion Pathogenic 643101 rs1581987476 GRCh37: 6:33405776-33405776
GRCh38: 6:33437999-33437999
43 SYNGAP1 NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs) Deletion Pathogenic 643448 rs1581992099 GRCh37: 6:33408651-33408652
GRCh38: 6:33440874-33440875
44 SYNGAP1 NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs) Duplication Pathogenic 645497 rs1581995453 GRCh37: 6:33410718-33410719
GRCh38: 6:33442941-33442942
45 SYNGAP1 NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs) Duplication Pathogenic 646638 rs1581996778 GRCh37: 6:33411491-33411492
GRCh38: 6:33443714-33443715
46 SYNGAP1 NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter) SNV Pathogenic 648805 rs1554121207 GRCh37: 6:33405619-33405619
GRCh38: 6:33437842-33437842
47 SYNGAP1 NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs) Deletion Pathogenic 651597 rs1581986872 GRCh37: 6:33405462-33405465
GRCh38: 6:33437685-33437688
48 SYNGAP1 NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs) Deletion Pathogenic 659250 rs1581991929 GRCh37: 6:33408550-33408550
GRCh38: 6:33440773-33440773
49 SYNGAP1 NM_006772.3(SYNGAP1):c.410del (p.Leu137fs) Deletion Pathogenic 659379 rs1581980317 GRCh37: 6:33400484-33400484
GRCh38: 6:33432707-33432707
50 SYNGAP1 NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro) SNV Pathogenic 660421 rs1581987268 GRCh37: 6:33405662-33405662
GRCh38: 6:33437885-33437885

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 5.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 RAB5A RAB39B

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 5

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendritic shaft GO:0043198 8.62 SYNGAP1 DLG3

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor clustering GO:0043113 8.96 SYNGAP1 DLG3
2 regulation of long-term neuronal synaptic plasticity GO:0048169 8.62 SYNGAP1 RAB5A

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.33 RAP2A RAB5A RAB39B
2 GDP binding GO:0019003 8.96 RAP2A RAB5A
3 GTPase activity GO:0003924 8.8 RAP2A RAB5A RAB39B

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 5

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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