MCID: MNT246
MIFTS: 24

Mental Retardation, Autosomal Dominant 38

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Fetal diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 29 6
Psychomotor Retardation, Epilepsy, and Language Disability Syndrome 57 12 75
Prelds 57 12 75
Mrd38 57 12 75
Psychomotor Retardation, Epilepsy, and Language Disability Syndrome; Prelds 57
Autosomal Dominant Non-Syndromic Intellectual Disability 38 12
Mental Retardation, Autosomal Dominant, Type 38 40
Autosomal Dominant Mental Retardation 38 12

Characteristics:

OMIM:

57
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:

32
mental retardation, autosomal dominant 38:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 38

UniProtKB/Swiss-Prot : 75 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, is also known as psychomotor retardation, epilepsy, and language disability syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 38 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2). Affiliated tissues include eye, and related phenotypes are low-set ears and seizures

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.

Description from OMIM: 616393

Related Diseases for Mental Retardation, Autosomal Dominant 38

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 38

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Nose:
depressed nasal bridge

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Central Nervous System:
seizures
intellectual disability, severe
delayed psychomotor development
sleep disorder
poor or absent speech

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

Human phenotypes related to Mental Retardation, Autosomal Dominant 38:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 depressed nasal bridge 32 HP:0005280
5 neonatal hypotonia 32 HP:0001319
6 intellectual disability, severe 32 HP:0010864
7 epicanthus 32 HP:0000286
8 everted lower lip vermilion 32 HP:0000232
9 deeply set eye 32 HP:0000490
10 downslanted palpebral fissures 32 HP:0000494
11 downturned corners of mouth 32 HP:0002714
12 aggressive behavior 32 HP:0000718
13 tented upper lip vermilion 32 HP:0010804

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:

41
Eye

Publications for Mental Retardation, Autosomal Dominant 38

Variations for Mental Retardation, Autosomal Dominant 38

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

75
# Symbol AA change Variation ID SNP ID
1 EEF1A2 p.Glu122Lys VAR_073807 rs786205866
2 EEF1A2 p.Asp252His VAR_073808 rs786205865

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EEF1A2 NM_001958.3(EEF1A2): c.754G> C (p.Asp252His) single nucleotide variant Pathogenic rs786205865 GRCh37 Chromosome 20, 62124508: 62124508
2 EEF1A2 NM_001958.3(EEF1A2): c.754G> C (p.Asp252His) single nucleotide variant Pathogenic rs786205865 GRCh38 Chromosome 20, 63493155: 63493155
3 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh37 Chromosome 20, 62126415: 62126415
4 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh38 Chromosome 20, 63495062: 63495062

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

GO Terms for Mental Retardation, Autosomal Dominant 38

Sources for Mental Retardation, Autosomal Dominant 38

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....