MCID: MNT319
MIFTS: 28

Mental Retardation, Autosomal Dominant 20

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 73
Chromosome 5q14.3 Deletion Syndrome 57 75 29 13 73
Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 57 29 6 40
Mrd20 57 12 75
Mental Retardation, Stereotypic Movements, Epilepsy and/or Cerebral Malformations 75
Mental Retardation-Stereotypic Movements-Epilepsy and/or Cerebral Malformations 37
Autosomal Dominant Mental Retardation 20 12
5q14.3 Microdeletion Syndrome 59
Monosomy 5q14.3 59
Del(5)(q14.3) 59

Characteristics:

Orphanet epidemiological data:

59
5q14.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
dysmorphic features are variable


HPO:

32
mental retardation, autosomal dominant 20:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 20

UniProtKB/Swiss-Prot : 75 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.

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). Affiliated tissues include eye, and related phenotypes are seizures and short nose

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.

Description from OMIM: 613443

Related Diseases for Mental Retardation, Autosomal Dominant 20

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
Mental Retardation, Autosomal Dominant 19 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 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 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 Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 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 55 Mental Retardation, Autosomal Dominant 44
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 Dominant 49
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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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

# Related Disease Score Top Affiliating Genes
1 chromosome 5q14.3 deletion syndrome, distal 12.2
2 5q14.3 microdeletion syndrome 11.2

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 20

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
poor eye contact
upslanting palpebral fissures
pronounced eyebrows

Neurologic Central Nervous System:
seizures
inability to walk
enlarged ventricles
delayed motor development
mental retardation, severe
more
Head And Neck Head:
broad forehead

Muscle Soft Tissue:
hypotonia

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

Head And Neck Ears:
low-set ears
dysmorphic ears

Head And Neck Nose:
short nose
anteverted nostrils
flattened nasal bridge

Head And Neck Face:
short philtrum
small chin

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypic, repetitive movements


Clinical features from OMIM:

613443

Human phenotypes related to Mental Retardation, Autosomal Dominant 20:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 Very frequent (99-80%) HP:0001250
2 short nose 59 32 Frequent (79-30%) HP:0003196
3 anteverted nares 59 32 Occasional (29-5%) HP:0000463
4 intellectual disability, severe 59 32 Very frequent (99-80%) HP:0010864
5 ventriculomegaly 59 32 Frequent (79-30%) HP:0002119
6 broad forehead 59 32 Very frequent (99-80%) HP:0000337
7 short philtrum 59 32 Frequent (79-30%) HP:0000322
8 upslanted palpebral fissure 59 32 Frequent (79-30%) HP:0000582
9 hypertelorism 32 HP:0000316
10 low-set ears 32 HP:0000369
11 muscular hypotonia 59 Very frequent (99-80%)
12 depressed nasal bridge 32 HP:0005280
13 delayed speech and language development 59 Very frequent (99-80%)
14 thick eyebrow 59 Occasional (29-5%)
15 stereotypy 59 Frequent (79-30%)
16 feeding difficulties 59 Occasional (29-5%)
17 strabismus 59 Occasional (29-5%)
18 abnormality of nervous system morphology 59 Frequent (79-30%)
19 inability to walk 32 HP:0002540
20 optic nerve hypoplasia 59 Occasional (29-5%)
21 deeply set eye 59 Occasional (29-5%)
22 open mouth 59 Occasional (29-5%)
23 downturned corners of mouth 32 HP:0002714
24 high forehead 59 Very frequent (99-80%)
25 toe syndactyly 59 Occasional (29-5%)
26 motor delay 32 HP:0001270
27 hypoplasia of the corpus callosum 59 Frequent (79-30%)
28 autistic behavior 59 Very frequent (99-80%)
29 abnormality of the periventricular white matter 32 occasional (7.5%) HP:0002518
30 generalized hypotonia 32 HP:0001290
31 epileptic encephalopathy 32 occasional (7.5%) HP:0200134
32 short chin 32 HP:0000331
33 agenesis of cerebellar vermis 59 Occasional (29-5%)
34 frontal cortical atrophy 59 Occasional (29-5%)
35 poor eye contact 32 HP:0000817

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:

41
Eye

Publications for Mental Retardation, Autosomal Dominant 20

Articles related to Mental Retardation, Autosomal Dominant 20:

# Title Authors Year
1
MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report. ( 26161356 )
2015

Variations for Mental Retardation, Autosomal Dominant 20

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

6
(show top 50) (show all 55)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEF2C NM_001131005.2(MEF2C): c.677C> G (p.Ser226Ter) single nucleotide variant Pathogenic rs267607233 GRCh37 Chromosome 5, 88027673: 88027673
2 MEF2C NM_001131005.2(MEF2C): c.677C> G (p.Ser226Ter) single nucleotide variant Pathogenic rs267607233 GRCh38 Chromosome 5, 88731856: 88731856
3 MEF2C NM_001131005.2(MEF2C): c.113T> A (p.Leu38Gln) single nucleotide variant Pathogenic rs397514655 GRCh37 Chromosome 5, 88100560: 88100560
4 MEF2C NM_001131005.2(MEF2C): c.113T> A (p.Leu38Gln) single nucleotide variant Pathogenic rs397514655 GRCh38 Chromosome 5, 88804743: 88804743
5 MEF2C MEF2C, 1-BP DUP, 99T duplication Pathogenic
6 MEF2C NM_001131005.2(MEF2C): c.80G> C (p.Gly27Ala) single nucleotide variant Pathogenic rs397514656 GRCh37 Chromosome 5, 88100593: 88100593
7 MEF2C NM_001131005.2(MEF2C): c.80G> C (p.Gly27Ala) single nucleotide variant Pathogenic rs397514656 GRCh38 Chromosome 5, 88804776: 88804776
8 MEF2C NM_002397.4(MEF2C): c.458delA (p.Asn153Thrfs) deletion Pathogenic rs730882192 GRCh37 Chromosome 5, 88047805: 88047805
9 MEF2C NM_002397.4(MEF2C): c.458delA (p.Asn153Thrfs) deletion Pathogenic rs730882192 GRCh38 Chromosome 5, 88751988: 88751988
10 MEF2C NM_002397.4(MEF2C): c.1403C> T (p.Ser468Phe) single nucleotide variant Uncertain significance rs607159 GRCh37 Chromosome 5, 88018440: 88018440
11 MEF2C NM_002397.4(MEF2C): c.1403C> T (p.Ser468Phe) single nucleotide variant Uncertain significance rs607159 GRCh38 Chromosome 5, 88722623: 88722623
12 MEF2C NM_002397.4(MEF2C): c.833delT (p.Leu278Terfs) deletion Pathogenic rs587783749 GRCh37 Chromosome 5, 88026029: 88026029
13 MEF2C NM_002397.4(MEF2C): c.833delT (p.Leu278Terfs) deletion Pathogenic rs587783749 GRCh38 Chromosome 5, 88730212: 88730212
14 MEF2C NM_002397.4(MEF2C): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs587783747 GRCh37 Chromosome 5, 88047698: 88047698
15 MEF2C NM_002397.4(MEF2C): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs587783747 GRCh38 Chromosome 5, 88751881: 88751881
16 MEF2C NM_002397.4(MEF2C): c.759A> G (p.Pro253=) single nucleotide variant Conflicting interpretations of pathogenicity rs368575766 GRCh37 Chromosome 5, 88027597: 88027597
17 MEF2C NM_002397.4(MEF2C): c.759A> G (p.Pro253=) single nucleotide variant Conflicting interpretations of pathogenicity rs368575766 GRCh38 Chromosome 5, 88731780: 88731780
18 MEF2C NM_002397.4(MEF2C): c.980G> C (p.Ser327Thr) single nucleotide variant Uncertain significance rs796052726 GRCh38 Chromosome 5, 88728613: 88728613
19 MEF2C NM_002397.4(MEF2C): c.980G> C (p.Ser327Thr) single nucleotide variant Uncertain significance rs796052726 GRCh37 Chromosome 5, 88024430: 88024430
20 MEF2C NM_002397.4(MEF2C): c.68A> G (p.Lys23Arg) single nucleotide variant Likely pathogenic rs797045053 GRCh37 Chromosome 5, 88100605: 88100605
21 MEF2C NM_002397.4(MEF2C): c.68A> G (p.Lys23Arg) single nucleotide variant Likely pathogenic rs797045053 GRCh38 Chromosome 5, 88804788: 88804788
22 MEF2C NM_002397.4(MEF2C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs545185248 GRCh38 Chromosome 5, 88823787: 88823787
23 MEF2C NM_002397.4(MEF2C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs545185248 GRCh37 Chromosome 5, 88119604: 88119604
24 MEF2C NM_001131005.2(MEF2C): c.9A> T (p.Arg3Ser) single nucleotide variant Pathogenic rs876661308 GRCh37 Chromosome 5, 88119597: 88119597
25 MEF2C NM_001131005.2(MEF2C): c.9A> T (p.Arg3Ser) single nucleotide variant Pathogenic rs876661308 GRCh38 Chromosome 5, 88823780: 88823780
26 MEF2C NM_001131005.2(MEF2C): c.71G> A (p.Arg24Lys) single nucleotide variant Pathogenic rs869312698 GRCh37 Chromosome 5, 88100602: 88100602
27 MEF2C NM_001131005.2(MEF2C): c.71G> A (p.Arg24Lys) single nucleotide variant Pathogenic rs869312698 GRCh38 Chromosome 5, 88804785: 88804785
28 MEF2C NM_002397.4(MEF2C): c.615G> A (p.Thr205=) single nucleotide variant Likely benign rs776496777 GRCh37 Chromosome 5, 88044909: 88044909
29 MEF2C NM_002397.4(MEF2C): c.615G> A (p.Thr205=) single nucleotide variant Likely benign rs776496777 GRCh38 Chromosome 5, 88749092: 88749092
30 MEF2C NM_002397.4(MEF2C): c.258+7G> C single nucleotide variant Likely benign rs372739987 GRCh37 Chromosome 5, 88100408: 88100408
31 MEF2C NM_002397.4(MEF2C): c.258+7G> C single nucleotide variant Likely benign rs372739987 GRCh38 Chromosome 5, 88804591: 88804591
32 MEF2C NM_001193350.1(MEF2C): c.860C> T (p.Ser287Leu) single nucleotide variant Uncertain significance rs777826971 GRCh37 Chromosome 5, 88025139: 88025139
33 MEF2C NM_001193350.1(MEF2C): c.860C> T (p.Ser287Leu) single nucleotide variant Uncertain significance rs777826971 GRCh38 Chromosome 5, 88729322: 88729322
34 MEF2C NC_000005.10: g.(?_88823715)_(88823808_?)del deletion Pathogenic GRCh38 Chromosome 5, 88823715: 88823808
35 MEF2C NC_000005.10: g.(?_88823715)_(88823808_?)del deletion Pathogenic GRCh37 Chromosome 5, 88119532: 88119625
36 MEF2C NM_002397.4(MEF2C): c.1331A> C (p.His444Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 88722695: 88722695
37 MEF2C NM_002397.4(MEF2C): c.1331A> C (p.His444Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 88018512: 88018512
38 MEF2C NM_002397.4(MEF2C): c.252C> T (p.Ile84=) single nucleotide variant Likely benign rs780952466 GRCh37 Chromosome 5, 88100421: 88100421
39 MEF2C NM_002397.4(MEF2C): c.252C> T (p.Ile84=) single nucleotide variant Likely benign rs780952466 GRCh38 Chromosome 5, 88804604: 88804604
40 MEF2C NM_002397.4(MEF2C): c.180C> T (p.Thr60=) single nucleotide variant Benign rs773278207 GRCh38 Chromosome 5, 88804676: 88804676
41 MEF2C NM_002397.4(MEF2C): c.180C> T (p.Thr60=) single nucleotide variant Benign rs773278207 GRCh37 Chromosome 5, 88100493: 88100493
42 MEF2C NM_002397.4(MEF2C): c.589+6T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 88047668: 88047668
43 MEF2C NM_002397.4(MEF2C): c.589+6T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 88751851: 88751851
44 MEF2C NM_002397.4(MEF2C): c.447G> C (p.Val149=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 88047816: 88047816
45 MEF2C NM_002397.4(MEF2C): c.447G> C (p.Val149=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 88751999: 88751999
46 MEF2C NM_002397.4(MEF2C): c.108C> T (p.Ser36=) single nucleotide variant Likely benign rs143129901 GRCh38 Chromosome 5, 88804748: 88804748
47 MEF2C NM_002397.4(MEF2C): c.108C> T (p.Ser36=) single nucleotide variant Likely benign rs143129901 GRCh37 Chromosome 5, 88100565: 88100565
48 MEF2C NM_001131005.2(MEF2C): c.608_620delCGTCTGGTGCAGGinsGTCTCCAC (p.Thr203Serfs) indel Pathogenic GRCh37 Chromosome 5, 88044898: 88044910
49 MEF2C NM_001131005.2(MEF2C): c.608_620delCGTCTGGTGCAGGinsGTCTCCAC (p.Thr203Serfs) indel Pathogenic GRCh38 Chromosome 5, 88749081: 88749093
50 MEF2C NM_002397.4(MEF2C): c.21G> T (p.Gln7His) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 88823768: 88823768

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

GO Terms for Mental Retardation, Autosomal Dominant 20

Sources for Mental Retardation, Autosomal Dominant 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....