MRD20
MCID: MNT319
MIFTS: 42

Mental Retardation, Autosomal Dominant 20 (MRD20)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 20

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 20:

Name: Mental Retardation, Autosomal Dominant 20 57 12 72 70
Chromosome 5q14.3 Deletion Syndrome 57 72 29 13 70
Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 57 29 6
Mrd20 57 12 72
Autosomal Dominant Mental Retardation 20 12 15
Mental Retardation, Stereotypic Movements, Epilepsy and/or Cerebral Malformations 72
Mental Retardation-Stereotypic Movements-Epilepsy and/or Cerebral Malformations 36
Mental Retardation, Autosomal Dominant, Type 20 39
5q14.3 Microdeletion Syndrome 58
Monosomy 5q14.3 58
Del(5)(q14.3) 58

Characteristics:

Orphanet epidemiological data:

58
5q14.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
dysmorphic features are variable


HPO:

31
mental retardation, autosomal dominant 20:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070050
OMIM® 57 613443
OMIM Phenotypic Series 57 PS156200
KEGG 36 H01223
ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA228384
MedGen 41 C3150700
UMLS 70 C3150700 C3888340

Summaries for Mental Retardation, Autosomal Dominant 20

KEGG : 36 Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME.

MalaCards based summary : Mental Retardation, Autosomal Dominant 20, also known as chromosome 5q14.3 deletion syndrome, is related to chromosome 5q14.3 deletion syndrome, distal and 5q14.3 microdeletion syndrome, and has symptoms including seizures An important gene associated with Mental Retardation, Autosomal Dominant 20 is MEF2C (Myocyte Enhancer Factor 2C), and among its related pathways/superpathways are Protein ubiquitination and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Affiliated tissues include eye and cortex, and related phenotypes are abnormality of the periventricular white matter and epileptic encephalopathy

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MEF2C on chromosome 5q14.3.

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 20: A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures.

More information from OMIM: 613443 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 20

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 chromosome 5q14.3 deletion syndrome, distal 11.5
2 5q14.3 microdeletion syndrome 11.5
3 retinitis pigmentosa 11 10.1
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 febrile seizures 10.1
6 hypotonia 10.1
7 bruxism 9.8 MEF2C CDKL5
8 mowat-wilson syndrome 9.8 MEF2C CDKL5
9 pitt-hopkins syndrome 9.7 MEF2C CDKL5
10 uterine adnexa cancer 9.7 UBE2S UBE2K
11 charcot-marie-tooth disease, axonal, type 2p 9.7 UBE2S UBE2K
12 cortical dysplasia, complex, with other brain malformations 6 9.7 UBE2S UBE2K
13 liddle syndrome 1 9.5 UBE2S UBE2K
14 angelman syndrome 9.4 UBE2S UBE2K CDKL5

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 20:



Diseases related to Mental Retardation, Autosomal Dominant 20

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 20

Human phenotypes related to Mental Retardation, Autosomal Dominant 20:

31 58 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the periventricular white matter 31 occasional (7.5%) HP:0002518
2 epileptic encephalopathy 31 occasional (7.5%) HP:0200134
3 short nose 58 31 Frequent (79-30%) HP:0003196
4 anteverted nares 58 31 Occasional (29-5%) HP:0000463
5 intellectual disability, severe 58 31 Very frequent (99-80%) HP:0010864
6 upslanted palpebral fissure 58 31 Frequent (79-30%) HP:0000582
7 ventriculomegaly 58 31 Frequent (79-30%) HP:0002119
8 short philtrum 58 31 Frequent (79-30%) HP:0000322
9 broad forehead 58 31 Very frequent (99-80%) HP:0000337
10 seizures 58 Very frequent (99-80%)
11 muscular hypotonia 58 Very frequent (99-80%)
12 depressed nasal bridge 31 HP:0005280
13 hypertelorism 31 HP:0000316
14 delayed speech and language development 58 Very frequent (99-80%)
15 thick eyebrow 58 Occasional (29-5%)
16 stereotypy 58 Frequent (79-30%)
17 strabismus 58 Occasional (29-5%)
18 low-set ears 31 HP:0000369
19 motor delay 31 HP:0001270
20 open mouth 58 Occasional (29-5%)
21 downturned corners of mouth 31 HP:0002714
22 deeply set eye 58 Occasional (29-5%)
23 high forehead 58 Very frequent (99-80%)
24 abnormality of nervous system morphology 58 Frequent (79-30%)
25 toe syndactyly 58 Occasional (29-5%)
26 hypoplasia of the corpus callosum 58 Frequent (79-30%)
27 poor eye contact 31 HP:0000817
28 feeding difficulties 58 Occasional (29-5%)
29 autistic behavior 58 Very frequent (99-80%)
30 generalized hypotonia 31 HP:0001290
31 frontal cortical atrophy 58 Occasional (29-5%)
32 inability to walk 31 HP:0002540
33 optic nerve hypoplasia 58 Occasional (29-5%)
34 agenesis of cerebellar vermis 58 Occasional (29-5%)
35 short chin 31 HP:0000331
36 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
inability to walk
enlarged ventricles
delayed motor development
mental retardation, severe
more
Head And Neck Nose:
short nose
anteverted nostrils
flattened nasal bridge

Head And Neck Face:
short philtrum
small chin

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
downturned corners of the mouth
cupid bow

Head And Neck Eyes:
hypertelorism
poor eye contact
upslanting palpebral fissures
pronounced eyebrows

Head And Neck Ears:
low-set ears
dysmorphic ears

Head And Neck Head:
broad forehead

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypic, repetitive movements

Clinical features from OMIM®:

613443 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, Autosomal Dominant 20:


seizures

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 20

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 20

Genetic Tests for Mental Retardation, Autosomal Dominant 20

Genetic tests related to Mental Retardation, Autosomal Dominant 20:

# Genetic test Affiliating Genes
1 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 29 MEF2C
2 Chromosome 5q14.3 Deletion Syndrome 29

Anatomical Context for Mental Retardation, Autosomal Dominant 20

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 20:

40
Eye, Cortex

Publications for Mental Retardation, Autosomal Dominant 20

Articles related to Mental Retardation, Autosomal Dominant 20:

(show all 18)
# Title Authors PMID Year
1
Refining the phenotype associated with MEF2C point mutations. 6 57
23001426 2013
2
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. 57 6
20513142 2010
3
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 57 6
19592390 2010
4
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. 6 57
19876902 2009
5
[Study of de novo point mutations in known genes among patients with unexplained intellectual disability or developmental delay]. 6
30440138 2018
6
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. 6
30376817 2018
7
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
8
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes. 6
27748065 2016
9
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 6
27255693 2016
10
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
11
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 57
23708187 2013
12
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. 6
22031302 2011
13
Refining the phenotype associated with MEF2C haploinsufficiency. 57
20412115 2010
14
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. 6
20333642 2010
15
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. 57
19471318 2009
16
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 57
19073947 2009
17
MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. 6
7679508 1993
18
MEF2C orthologues from zebrafish: Evolution, expression and promoter regulation. 61
26705761 2016

Variations for Mental Retardation, Autosomal Dominant 20

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 20:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEF2C NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) SNV Pathogenic 8947 rs267607233 GRCh37: 5:88027673-88027673
GRCh38: 5:88731856-88731856
2 MEF2C NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) SNV Pathogenic 40214 rs397514655 GRCh37: 5:88100560-88100560
GRCh38: 5:88804743-88804743
3 MEF2C MEF2C, 1-BP DUP, 99T Duplication Pathogenic 40215 GRCh37:
GRCh38:
4 MEF2C NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) SNV Pathogenic 40216 rs397514656 GRCh37: 5:88100593-88100593
GRCh38: 5:88804776-88804776
5 MEF2C NM_002397.5(MEF2C):c.458del (p.Asn153fs) Deletion Pathogenic 40217 rs730882192 GRCh37: 5:88047805-88047805
GRCh38: 5:88751988-88751988
6 MEF2C NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser) SNV Pathogenic 218315 rs876661308 GRCh37: 5:88119597-88119597
GRCh38: 5:88823780-88823780
7 MEF2C NC_000005.10:g.(?_88804588)_(88884466_?)del Deletion Pathogenic 831579 GRCh37: 5:88100405-88180283
GRCh38:
8 MEF2C NC_000005.10:g.(?_88722584)_(88823808_?)del Deletion Pathogenic 832792 GRCh37: 5:88018401-88119625
GRCh38:
9 MEF2C NM_002397.5(MEF2C):c.988del (p.Leu330fs) Deletion Pathogenic 854734 GRCh37: 5:88024422-88024422
GRCh38: 5:88728605-88728605
10 MEF2C NM_002397.4:c.(?_-1)_(*1_?)del Deletion Pathogenic 974582 GRCh37:
GRCh38:
11 MEF2C NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs) Indel Pathogenic 487207 rs1554110298 GRCh37: 5:88044898-88044910
GRCh38: 5:88749081-88749093
12 MEF2C NM_002397.5(MEF2C):c.780dup (p.Pro261fs) Duplication Pathogenic 570908 rs1561697465 GRCh37: 5:88027575-88027576
GRCh38: 5:88731758-88731759
13 MEF2C NM_002397.5(MEF2C):c.192dup (p.Val65fs) Duplication Pathogenic 639211 rs1580988138 GRCh37: 5:88100480-88100481
GRCh38: 5:88804663-88804664
14 MEF2C NM_002397.5(MEF2C):c.908dup (p.Leu303fs) Duplication Pathogenic 662628 rs1581338441 GRCh37: 5:88025090-88025091
GRCh38: 5:88729273-88729274
15 MEF2C NM_002397.5(MEF2C):c.965-2A>G SNV Pathogenic 930715 GRCh37: 5:88024447-88024447
GRCh38: 5:88728630-88728630
16 MEF2C NC_000005.10:g.(?_88823715)_(88823808_?)del Deletion Pathogenic 478619 GRCh37: 5:88119532-88119625
GRCh38: 5:88823715-88823808
17 overlap with 2 genes NC_000005.9:g.88142510_88347193del204684insG Indel Pathogenic 598760 GRCh37: 5:88142510-88347193
GRCh38: 5:88846693-89051376
18 MEF2C NM_002397.5(MEF2C):c.638-2A>C SNV Pathogenic 488545 rs1554102556 GRCh37: 5:88027720-88027720
GRCh38: 5:88731903-88731903
19 MEF2C NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) SNV Pathogenic 158886 rs587783747 GRCh37: 5:88047698-88047698
GRCh38: 5:88751881-88751881
20 MEF2C NM_002397.5(MEF2C):c.47_50ACAG[1] (p.Arg17_Gln18insTer) Microsatellite Pathogenic 431933 rs1554150543 GRCh37: 5:88119552-88119555
GRCh38: 5:88823735-88823738
21 MEF2C NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) Deletion Pathogenic 158888 rs587783749 GRCh37: 5:88026029-88026029
GRCh38: 5:88730212-88730212
22 MEF2C NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) SNV Pathogenic 211494 rs545185248 GRCh37: 5:88119604-88119604
GRCh38: 5:88823787-88823787
23 MEF2C NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) SNV Pathogenic/Likely pathogenic 224136 rs869312698 GRCh37: 5:88100602-88100602
GRCh38: 5:88804785-88804785
24 MEF2C NM_002397.5(MEF2C):c.44G>A (p.Arg15His) SNV Likely pathogenic 620015 rs1202957297 GRCh37: 5:88119562-88119562
GRCh38: 5:88823745-88823745
25 MEF2C NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) SNV Likely pathogenic 209171 rs797045053 GRCh37: 5:88100605-88100605
GRCh38: 5:88804788-88804788
26 MEF2C NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) SNV Likely pathogenic 976044 GRCh37: 5:88100496-88100496
GRCh38: 5:88804679-88804679
27 MEF2C NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) SNV Likely pathogenic 827823 rs1580988074 GRCh37: 5:88100479-88100479
GRCh38: 5:88804662-88804662
28 MEF2C NM_002397.5(MEF2C):c.258+1G>A SNV Likely pathogenic 946564 GRCh37: 5:88100414-88100414
GRCh38: 5:88804597-88804597
29 MEF2C NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter) SNV Likely pathogenic 976480 GRCh37: 5:88047731-88047731
GRCh38: 5:88751914-88751914
30 MEF2C NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) SNV Conflicting interpretations of pathogenicity 206137 rs1554150607 GRCh37: 5:88119603-88119603
GRCh38: 5:88823786-88823786
31 MEF2C NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) SNV Conflicting interpretations of pathogenicity 935331 GRCh37: 5:88100536-88100536
GRCh38: 5:88804719-88804719
32 MEF2C NM_002397.5(MEF2C):c.585C>T (p.Asn195=) SNV Conflicting interpretations of pathogenicity 94061 rs398123686 GRCh37: 5:88047678-88047678
GRCh38: 5:88751861-88751861
33 MEF2C NM_002397.5(MEF2C):c.402+145A>G SNV Uncertain significance 982679 GRCh37: 5:88056857-88056857
GRCh38: 5:88761040-88761040
34 MEF2C NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) SNV Uncertain significance 982680 GRCh37: 5:88100563-88100563
GRCh38: 5:88804746-88804746
35 MEF2C-AS2 , MEF2C NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup) Duplication Uncertain significance 856830 GRCh37: 5:88018539-88018540
GRCh38: 5:88722722-88722723
36 MEF2C NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg) SNV Uncertain significance 952593 GRCh37: 5:88047687-88047687
GRCh38: 5:88751870-88751870
37 MEF2C NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp) SNV Uncertain significance 998900 GRCh37: 5:88057124-88057124
GRCh38: 5:88761307-88761307
38 MEF2C NM_002397.5(MEF2C):c.34A>G (p.Met12Val) SNV Uncertain significance 1000694 GRCh37: 5:88119572-88119572
GRCh38: 5:88823755-88823755
39 MEF2C NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) SNV Uncertain significance 1003007 GRCh37: 5:88057085-88057085
GRCh38: 5:88761268-88761268
40 MEF2C NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser) SNV Uncertain significance 575969 rs1366038563 GRCh37: 5:88047823-88047823
GRCh38: 5:88752006-88752006
41 MEF2C NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys) SNV Uncertain significance 936112 GRCh37: 5:88027605-88027605
GRCh38: 5:88731788-88731788
42 MEF2C NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) SNV Uncertain significance 951682 GRCh37: 5:88047706-88047706
GRCh38: 5:88751889-88751889
43 MEF2C NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro) SNV Uncertain significance 953737 GRCh37: 5:88024416-88024416
GRCh38: 5:88728599-88728599
44 MEF2C NM_002397.5(MEF2C):c.773T>A (p.Leu258His) SNV Uncertain significance 1015461 GRCh37: 5:88027583-88027583
GRCh38: 5:88731766-88731766
45 MEF2C NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu) SNV Uncertain significance 1019472 GRCh37: 5:88057058-88057058
GRCh38: 5:88761241-88761241
46 MEF2C NM_002397.5(MEF2C):c.1128G>C (p.Gln376His) SNV Uncertain significance 1024010 GRCh37: 5:88018715-88018715
GRCh38: 5:88722898-88722898
47 MEF2C-AS2 , MEF2C NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) SNV Uncertain significance 1031130 GRCh37: 5:88018524-88018524
GRCh38: 5:88722707-88722707
48 MEF2C NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) SNV Uncertain significance 211492 rs797045703 GRCh37: 5:88024389-88024389
GRCh38: 5:88728572-88728572
49 MEF2C NC_000005.9:g.(?_87976333_88057095del Deletion Uncertain significance 1040234 GRCh37:
GRCh38:
50 MEF2C NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser) SNV Uncertain significance 1044365 GRCh37: 5:88047785-88047785
GRCh38: 5:88751968-88751968

Expression for Mental Retardation, Autosomal Dominant 20

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 20.

Pathways for Mental Retardation, Autosomal Dominant 20

Pathways related to Mental Retardation, Autosomal Dominant 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.42 UBE2S UBE2K
2 11.11 MEF2C CDKL5
3 10.77 UBE2S UBE2K

GO Terms for Mental Retardation, Autosomal Dominant 20

Biological processes related to Mental Retardation, Autosomal Dominant 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 8.96 MEF2C CDKL5
2 free ubiquitin chain polymerization GO:0010994 8.62 UBE2S UBE2K

Molecular functions related to Mental Retardation, Autosomal Dominant 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin conjugating enzyme activity GO:0061631 8.62 UBE2S UBE2K

Sources for Mental Retardation, Autosomal Dominant 20

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