MCID: MNT144
MIFTS: 47

Mental Retardation, Autosomal Dominant 6 malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Fetal diseases, Eye diseases categories
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Summaries for Mental Retardation, Autosomal Dominant 6

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MalaCards based summary: Mental Retardation, Autosomal Dominant 6, also known as autosomal dominant non-syndromic intellectual disability, is related to temporal lobe epilepsy and lagophthalmos, and has symptoms including An important gene associated with Mental Retardation, Autosomal Dominant 6 is GRIN2B (glutamate receptor, ionotropic, N-methyl D-aspartate 2B), and among its related pathways are Amyotrophic lateral sclerosis (ALS) and Calcium channels. The compounds (+)-ha966 and l-aspartate have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and growth/size/body.

Descriptions from OMIM:46 156200, 612580, 612581, 612621, 613970 614104, 614113, 614254, 614255, 614256, 614257, 614563 more

Aliases & Classifications for Mental Retardation, Autosomal Dominant 6

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Mental Retardation, Autosomal Dominant 6, Aliases & Descriptions:

Name: Mental Retardation, Autosomal Dominant 6 20 22 46
 
Autosomal Dominant Non-Syndromic Intellectual Disability 48 46


Classifications:



Characteristics (Orphanet epidemiological data):

48

Related Diseases for Mental Retardation, Autosomal Dominant 6

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Diseases in the Mental Retardation, Autosomal Dominant 6 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 14
Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Dominant, 27 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 19
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 12
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Dominant 8
Mental Retardation, Autosomal Recessive 15 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive, 37 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Dominant 17
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 34
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Recessive, 9/26
Mental Retardation, Autosomal Recessive 32 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 10/20
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Dominant 16 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant, 28 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 15 Mental Retardation, Autosomal Dominant 10

Diseases related to Mental Retardation, Autosomal Dominant 6 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1temporal lobe epilepsy10.2GRIN2B, GRIN1
2lagophthalmos10.1MBD5, DOCK8
3memory impairment10.0GRIN1, DYRK1A
4epilepsy syndrome9.9GRIN2B, GRIN1, CACNG2

Symptoms for Mental Retardation, Autosomal Dominant 6

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Symptoms by clinical synopsis from OMIM:

156200

Clinical features from OMIM:

156200, 612580, 612581, 612621, 613970, 614104, 614113, 614254, 614255, 614256 614257, 614563 more

HPO human phenotypes related to Mental Retardation, Autosomal Dominant 6:

(show all 63)
id Description Frequency HPO Source Accession
1 torticollis rare (5%) HP:0000473
2 epileptic encephalopathy rare (5%) HP:0200134
3 seizures 2% HP:0001250
4 autosomal dominant inheritance HP:0000006
5 wide mouth HP:0000154
6 abnormality of lower lip HP:0000178
7 open mouth HP:0000194
8 thin upper lip vermilion HP:0000219
9 microcephaly HP:0000252
10 retrognathia HP:0000278
11 short chin HP:0000331
12 broad forehead HP:0000337
13 micrognathia HP:0000347
14 low-set ears HP:0000369
15 cupped ear HP:0000378
16 protruding ear HP:0000411
17 bulbous nose HP:0000414
18 prominent nose HP:0000448
19 astigmatism HP:0000483
20 visual impairment HP:0000505
21 hypermetropia HP:0000540
22 myopia HP:0000545
23 esotropia HP:0000565
24 thick eyebrow HP:0000574
25 widely spaced teeth HP:0000687
26 aggressive behavior HP:0000718
27 short attention span HP:0000736
28 intellectual disability HP:0001249
29 ataxia HP:0001251
30 motor delay HP:0001270
31 short foot HP:0001773
32 sandal gap HP:0001852
33 frontal bossing HP:0002007
34 febrile seizures HP:0002373
35 language impairment HP:0002463
36 highly arched eyebrow HP:0002553
37 polyphagia HP:0002591
38 downturned corners of mouth HP:0002714
39 short nose HP:0003196
40 short stature HP:0004322
41 microtia HP:0008551
42 feeding difficulties in infancy HP:0008872
43 postnatal growth retardation HP:0008897
44 self-injurious behavior HP:0100716
45 small hand HP:0200055
46 autosomal dominant inheritance HP:0000006
47 intellectual disability HP:0001249
48 autosomal dominant inheritance HP:0000006
49 intellectual disability HP:0001249
50 autosomal dominant inheritance HP:0000006
51 microcephaly HP:0000252
52 autistic behavior HP:0000729
53 intellectual disability HP:0001249
54 muscular hypotonia HP:0001252
55 global developmental delay HP:0001263
56 motor delay HP:0001270
57 eeg abnormality HP:0002353
58 developmental regression HP:0002376
59 language impairment HP:0002463
60 autosomal dominant inheritance HP:0000006
61 behavioral abnormality HP:0000708
62 intellectual disability HP:0001249
63 eeg abnormality HP:0002353

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 6

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 6

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 6

Genetic Tests for Mental Retardation, Autosomal Dominant 6

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Genetic tests related to Mental Retardation, Autosomal Dominant 6:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 620 22 GRIN2B

Anatomical Context for Mental Retardation, Autosomal Dominant 6

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Animal Models for Mental Retardation, Autosomal Dominant 6 or affiliated genes

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MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 6:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9KIF1A, GRIN1, SYNGAP1, CACNG2, DYNC1H1, KIRREL3
2MP:00053786.6TCF4, SYNGAP1, CACNG2, DYRK1A, DYNC1H1, KIF1A
3MP:00107686.4SYNGAP1, GRIN2B, GRIN1, KIF1A, DYNC1H1, DYRK1A
4MP:00036315.9EPB41L1, GRIN2B, MBD5, GRIN1, KIF1A, KIRREL3

Publications for Mental Retardation, Autosomal Dominant 6

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Variations for Mental Retardation, Autosomal Dominant 6

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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 6:

64
id Symbol AA change Variation ID SNP ID
1CDH15p.Arg60CysVAR_054967
2CDH15p.Arg92TrpVAR_054968
3CDH15p.Ala122ValVAR_054969rs121434541
4GRIN2Bp.Arg682CysVAR_065900
5GRIN2Bp.Pro553LeuVAR_069384
6KIRREL3p.Arg40TrpVAR_054828
7KIRREL3p.Arg336GlnVAR_054829rs114378922
8KIRREL3p.Val731PheVAR_054830
9SYNGAP1p.Trp362ArgVAR_069232
10SYNGAP1p.Pro562LeuVAR_069233

Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 6:

6 (show all 31)
id Gene Name Type Significance SNP ID Assembly Location
1SYNGAP1NM_006772.2(SYNGAP1): c.1782delC (p.Leu595Cysfs)deletionPathogenicGRCh37Chr 6, 33408611: 33408611
2SYNGAP1NM_006772.2(SYNGAP1): c.1783delC (p.Leu595Cysfs)deletionPathogenicGRCh38Chr 6, 33440835: 33440835
3SYNGAP1NM_006772.2(SYNGAP1): c.2602delG (p.Asp868Thrfs)deletionPathogenicGRCh37Chr 6, 33410931: 33410931
4CDH15NM_004933.2(CDH15): c.178C> T (p.Arg60Cys)single nucleotide variantPathogenicrs121434539GRCh37Chr 16, 89245959: 89245959
5CDH15NM_004933.2(CDH15): c.274C> T (p.Arg92Trp)single nucleotide variantPathogenicrs121434540GRCh37Chr 16, 89246680: 89246680
6CDH15NM_004933.2(CDH15): c.365C> T (p.Ala122Val)single nucleotide variantPathogenicrs121434541GRCh37Chr 16, 89249963: 89249963
7KIRREL3NM_032531.3(KIRREL3): c.118C> T (p.Arg40Trp)single nucleotide variantPathogenicrs119462978GRCh37Chr 11, 126432745: 126432745
8KIRREL3NM_032531.3(KIRREL3): c.1007G> A (p.Arg336Gln)single nucleotide variantPathogenicrs114378922GRCh37Chr 11, 126316772: 126316772
9KIRREL3NM_032531.3(KIRREL3): c.2191G> T (p.Val731Phe)single nucleotide variantPathogenicrs119462980GRCh37Chr 11, 126294621: 126294621
10GRIN2BGRIN2B, IVS2DS, G-A, +1single nucleotide variantPathogenic
11GRIN2BGRIN2B, 2-BP DEL, 803CAdeletionPathogenic
12GRIN2BNM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys)single nucleotide variantPathogenicrs387906636GRCh37Chr 12, 13724865: 13724865
13GRIN2BGRIN2B, IVS11AS, A-G, -2single nucleotide variantPathogenic
14GRIN2BNM_000834.3(GRIN2B): c.99dupC (p.Ser34Glnfs)duplicationPathogenicrs398122823GRCh37Chr 12, 14019043: 14019044
15GRIN2BNM_000834.3(GRIN2B): c.1367G> A (p.Cys456Tyr)single nucleotide variantPathogenicrs397514555GRCh37Chr 12, 13768560: 13768560
16GRIN2BNM_000834.3(GRIN2B): c.2172-2A> Gsingle nucleotide variantPathogenicrs398122824GRCh37Chr 12, 13722953: 13722953
17GRIN2BNM_000834.3(GRIN2B): c.1677G> A (p.Trp559Ter)single nucleotide variantPathogenicrs398122825GRCh37Chr 12, 13764762: 13764762
18GRIN2BNM_000834.3(GRIN2B): c.1658C> T (p.Pro553Leu)single nucleotide variantPathogenicrs397514556GRCh37Chr 12, 13764781: 13764781
19SYNGAP1SYNGAP1, 501, G-A, -1single nucleotide variantPathogenic
20SYNGAP1SYNGAP1, 1-BP DEL, 2677CdeletionPathogenic
21SYNGAP1SYNGAP1, IVS13DS, G-A, +1single nucleotide variantPathogenic
22SYNGAP1SYNGAP1, TRP362ARGsingle nucleotide variantPathogenic
23SYNGAP1NM_006772.2(SYNGAP1): c.1685C> T (p.Pro562Leu)single nucleotide variantPathogenicrs397514670GRCh37Chr 6, 33408514: 33408514
24SYNGAP1NM_006772.2(SYNGAP1): c.427C> T (p.Arg143Ter)single nucleotide variantPathogenicrs397514741GRCh37Chr 6, 33400501: 33400501
25SYNGAP1SYNGAP1, TRP267TERundetermined variantPathogenic
26MBD5MBD5, THR157GLNFSTER4undetermined variantPathogenic
27SYNGAP1NM_006772.2(SYNGAP1): c.412A> T (p.Lys138Ter)single nucleotide variantPathogenicrs121918315GRCh37Chr 6, 33400486: 33400486
28SYNGAP1NM_006772.2(SYNGAP1): c.1735C> T (p.Arg579Ter)single nucleotide variantPathogenicrs121918316GRCh37Chr 6, 33408564: 33408564
29SYNGAP1NM_006772.2(SYNGAP1): c.2438delT (p.Leu813Argfs)deletionPathogenicrs397515320GRCh37Chr 6, 33410767: 33410767
30MBD5NM_018328.4(MBD5): c.150delT (p.Thr52Hisfs)deletionPathogenicrs398122412GRCh37Chr 2, 149220187: 149220187
31MBD5nsv513766deletionPathogenic

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Pathways related to Mental Retardation, Autosomal Dominant 6 according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
9.9GRIN1, GRIN2B
29.9GRIN2B, GRIN1
3
Show member pathways
9.9GRIN2B, GRIN1
49.9GRIN2B, GRIN1
5
Show member pathways
9.9GRIN2B, GRIN1
69.9GRIN2B, GRIN1
79.9GRIN2B, GRIN1
89.9GRIN1, GRIN2B
9
Show member pathways
9.6GRIN2B, GRIN1, SYNGAP1
10
Show member pathways
9.4CACNG2, EPB41L1
11
Show member pathways
9.4CDH15, TCF4
12
Show member pathways
8.8EPB41L1, CACNG2, GRIN1, GRIN2B
138.6GRIN2B, GRIN1, DYRK1A, CACNG2, SYNGAP1

Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Compounds related to Mental Retardation, Autosomal Dominant 6 according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1(+)-ha9662810.3GRIN2B, GRIN1
2l-aspartate2810.3GRIN1, GRIN2B
3[3h]mdl1055192810.3GRIN2B, GRIN1
4homoquinolinic acid2810.3GRIN2B, GRIN1
5l6895602810.3GRIN2B, GRIN1
6[3h]l6895602810.2GRIN2B, GRIN1
7[3h]mk-8012810.2GRIN2B, GRIN1
8gv196771a2810.2GRIN2B, GRIN1
9[3h]cpp2810.2GRIN1, GRIN2B
10[3h]cgp396532810.2GRIN2B, GRIN1
11d-aspartate2810.2GRIN2B, GRIN1
12l7013242810.2GRIN2B, GRIN1
13(rs)-(tetrazol-5-yl)glycine2810.2GRIN2B, GRIN1
14[3h]cgs197552810.2GRIN2B, GRIN1
15[3h]cgp615942810.2GRIN2B, GRIN1
16[3h]glycine2810.2GRIN2B, GRIN1
175,7-dichlorokynurenic acid2810.1GRIN2B, GRIN1
18dl-ap5 sodium salt6110.1GRIN1, GRIN2B
19(+)-mk 801 maleate6110.1GRIN1, GRIN2B
20dl-ap56110.1GRIN1, GRIN2B
21d-ap561 2811.1GRIN1, GRIN2B
22qnz 466110.0GRIN1, GRIN2B
23d-serine28 24 1111.9GRIN1, GRIN2B
24meperidine44 1110.9GRIN2B, GRIN1
25glycine28 24 1111.9GRIN2B, GRIN1
26lithium44 50 24 1112.6CACNG2, GRIN1, GRIN2B
27phencyclidine44 28 1111.6GRIN2B, GRIN1
28alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid449.5GRIN1, CACNG2
29kainate44 2810.5GRIN2B, GRIN1, CACNG2
30nmda44 2810.3SYNGAP1, CACNG2, GRIN1, GRIN2B

GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Cellular components related to Mental Retardation, Autosomal Dominant 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-methyl-D-aspartate selective glutamate receptor complexGO:0171469.9GRIN2B, GRIN1
2synaptic vesicleGO:0080219.9GRIN2B, GRIN1
3dendritic shaftGO:0431989.6KIRREL3, SYNGAP1
4neuron projectionGO:0430059.4GRIN2B, GRIN1, KIF1A

Biological processes related to Mental Retardation, Autosomal Dominant 6 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1suckling behaviorGO:00196710.1GRIN1, GRIN2B
2ionotropic glutamate receptor signaling pathwayGO:03523510.0GRIN2B, GRIN1
3regulation of long-term neuronal synaptic plasticityGO:04816910.0GRIN1, SYNGAP1
4regulation of excitatory postsynaptic membrane potentialGO:0600799.9GRIN1, GRIN2B
5regulation of synaptic plasticityGO:0481679.9GRIN2B, SYNGAP1
6synaptic transmission, glutamatergicGO:0352499.8GRIN2B, GRIN1
7visual learningGO:0085429.5SYNGAP1, GRIN1
8transportGO:0068109.3GRIN2B, DYNC1H1, CACNG2
9synaptic transmissionGO:0072689.0GRIN2B, GRIN1, CACNG2, EPB41L1

Molecular functions related to Mental Retardation, Autosomal Dominant 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-methyl-D-aspartate selective glutamate receptor activityGO:0049729.9GRIN2B, GRIN1
2glycine bindingGO:0165949.9GRIN2B, GRIN1
3calcium channel activityGO:0052629.9GRIN2B, GRIN1
4extracellular-glutamate-gated ion channel activityGO:0052349.8GRIN1, GRIN2B
5protein bindingGO:0055156.4TCF4, DOCK8, CACNG2, DYRK1A, DYNC1H1, KIRREL3

Products for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Sources for Mental Retardation, Autosomal Dominant 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet