MCID: MNT246
MIFTS: 23

Mental Retardation, Autosomal Dominant 38

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Skin diseases, Eye diseases, Metabolic diseases, Bone diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 38

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 38:

Name: Mental Retardation, Autosomal Dominant 38 53 71 28
Psychomotor Retardation, Epilepsy, and Language Disability Syndrome 53 71
Prelds 53 71
Mrd38 53 71
Psychomotor Retardation, Epilepsy, and Language Disability Syndrome; Prelds 53

Characteristics:

OMIM:

53
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:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 38

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, low-set ears and intellectual disability. An important gene associated with Mental Retardation, Autosomal Dominant 38 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2). Affiliated tissues include eye.

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 38

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
intellectual disability, severe
delayed psychomotor development
sleep disorder
poor or absent speech

Head And Neck Nose:
depressed nasal bridge

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

Muscle Soft Tissue:
hypotonia, neonatal

Head And Neck Ears:
low-set ears

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 low-set ears 31 HP:0000369
3 intellectual disability 31 HP:0001249
4 muscular hypotonia 31 HP:0001252
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 neonatal hypotonia 31 HP:0001319
8 intellectual disability, severe 31 HP:0010864
9 epicanthus 31 HP:0000286
10 everted lower lip vermilion 31 HP:0000232
11 deeply set eye 31 HP:0000490
12 downslanted palpebral fissures 31 HP:0000494
13 downturned corners of mouth 31 HP:0002714
14 aggressive behavior 31 HP:0000718
15 tented upper lip vermilion 31 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 28 EEF1A2

Anatomical Context for Mental Retardation, Autosomal Dominant 38

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

38
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:

71
# 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.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh37 Chromosome 20, 62126415: 62126415

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

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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