MRD38
MCID: MNT246
MIFTS: 31

Mental Retardation, Autosomal Dominant 38 (MRD38)

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 38

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 38:

Name: Mental Retardation, Autosomal Dominant 38 57 72 29 6
Psychomotor Retardation, Epilepsy, and Language Disability Syndrome 57 12 72
Prelds 57 12 72
Mrd38 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 38 12 15
Psychomotor Retardation, Epilepsy, and Language Disability Syndrome; Prelds 57
Mental Retardation, Autosomal Dominant, Type 38 39
Autosomal Dominant Mental Retardation 38 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation
variable age at onset of seizures
two unrelated patients have been reported (last curated june 2015)


HPO:

31
mental retardation, autosomal dominant 38:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 38

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 38: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly.

MalaCards based summary : Mental Retardation, Autosomal Dominant 38, also known as psychomotor retardation, epilepsy, and language disability syndrome, is related to chanarin-dorfman syndrome and spinocerebellar ataxia, autosomal recessive 20. An important gene associated with Mental Retardation, Autosomal Dominant 38 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2), and among its related pathways/superpathways is Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include eye, and related phenotypes are global developmental delay and depressed nasal bridge

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33.

More information from OMIM: 616393 PS156200

Related Diseases for Mental Retardation, Autosomal Dominant 38

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 38 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chanarin-dorfman syndrome 9.9 PLIN3 DGAT2
2 spinocerebellar ataxia, autosomal recessive 20 9.8 SNX14 ACSL3
3 fetal akinesia deformation sequence 1 9.7 DGAT2 ACSL3

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 38

Human phenotypes related to Mental Retardation, Autosomal Dominant 38:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 depressed nasal bridge 31 HP:0005280
3 neonatal hypotonia 31 HP:0001319
4 intellectual disability, severe 31 HP:0010864
5 everted lower lip vermilion 31 HP:0000232
6 absent speech 31 HP:0001344
7 low-set ears 31 HP:0000369
8 epicanthus 31 HP:0000286
9 downslanted palpebral fissures 31 HP:0000494
10 downturned corners of mouth 31 HP:0002714
11 deeply set eye 31 HP:0000490
12 tented upper lip vermilion 31 HP:0010804
13 aggressive behavior 31 HP:0000718
14 decreased head circumference 31 HP:0040195
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
intellectual disability, severe
delayed psychomotor development
sleep disorder
poor or absent speech

Head And Neck Ears:
low-set ears

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
epicanthus
downslanting palpebral fissures
deep-set eyes

Head And Neck Mouth:
downturned corners of the mouth
everted lower lip
tented upper lip

Head And Neck Head:
decreased head circumference, progressive (about -2.5 sd)

Clinical features from OMIM®:

616393 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 38 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-108 9.4 PLIN3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.4 PLIN3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-21 9.4 ACSL3 PLIN3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.4 PLIN3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.4 ACSL3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.4 PLIN3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 9.4 ACSL3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.4 PLIN3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.4 ACSL3 PLIN3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.4 PLIN3

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 38

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 38

Genetic Tests for Mental Retardation, Autosomal Dominant 38

Genetic tests related to Mental Retardation, Autosomal Dominant 38:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 38 29 EEF1A2

Anatomical Context for Mental Retardation, Autosomal Dominant 38

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 38:

40
Eye

Publications for Mental Retardation, Autosomal Dominant 38

Articles related to Mental Retardation, Autosomal Dominant 38:

# Title Authors PMID Year
1
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. 57 6
24697219 2015
2
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
3
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 6
27441201 2016
4
Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. 6
26682508 2016

Variations for Mental Retardation, Autosomal Dominant 38

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 38:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EEF1A2 NM_001958.4(EEF1A2):c.754G>C (p.Asp252His) SNV Pathogenic 192251 rs786205865 GRCh37: 20:62124508-62124508
GRCh38: 20:63493155-63493155
2 EEF1A2 NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) SNV Pathogenic 192252 GRCh37: 20:62126415-62126415
GRCh38: 20:63495062-63495062
3 EEF1A2 NM_001958.4(EEF1A2):c.271G>A (p.Asp91Asn) SNV Pathogenic 279803 rs886041197 GRCh37: 20:62127262-62127262
GRCh38: 20:63495909-63495909
4 EEF1A2 NM_001958.4(EEF1A2):c.796C>T (p.Arg266Trp) SNV Pathogenic 449242 rs1555883505 GRCh37: 20:62122065-62122065
GRCh38: 20:63490712-63490712
5 EEF1A2 NM_001958.4(EEF1A2):c.796C>T (p.Arg266Trp) SNV Likely pathogenic 449242 rs1555883505 GRCh37: 20:62122065-62122065
GRCh38: 20:63490712-63490712
6 EEF1A2 NM_001958.4(EEF1A2):c.821C>T (p.Pro274Leu) SNV Likely pathogenic 620070 GRCh37: 20:62122040-62122040
GRCh38: 20:63490687-63490687
7 EEF1A2 NM_001958.4(EEF1A2):c.532A>T (p.Ile178Phe) SNV Uncertain significance 625937 rs765056369 GRCh37: 20:62126247-62126247
GRCh38: 20:63494894-63494894
8 EEF1A2 NM_001958.4(EEF1A2):c.71C>T (p.Thr24Met) SNV Uncertain significance 422192 rs1064795618 GRCh37: 20:62129046-62129046
GRCh38: 20:63497693-63497693

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 38:

72
# Symbol AA change Variation ID SNP ID
1 EEF1A2 p.Glu122Lys VAR_073807 rs786205866
2 EEF1A2 p.Asp252His VAR_073808 rs786205865

Expression for Mental Retardation, Autosomal Dominant 38

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 38.

Pathways for Mental Retardation, Autosomal Dominant 38

Pathways related to Mental Retardation, Autosomal Dominant 38 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 PLIN3 DGAT2 ACSL3

GO Terms for Mental Retardation, Autosomal Dominant 38

Cellular components related to Mental Retardation, Autosomal Dominant 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of endoplasmic reticulum membrane GO:0030176 8.96 DGAT2 AUP1
2 lipid droplet GO:0005811 8.92 PLIN3 DGAT2 AUP1 ACSL3

Biological processes related to Mental Retardation, Autosomal Dominant 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid storage GO:0019915 8.96 PLIN3 DGAT2
2 long-chain fatty-acyl-CoA metabolic process GO:0035336 8.62 DGAT2 ACSL3

Sources for Mental Retardation, Autosomal Dominant 38

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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