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MRT58
MCID: MNT285
MIFTS: 24

Mental Retardation, Autosomal Recessive 58 (MRT58)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Recessive 58

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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 58:

Name: Mental Retardation, Autosomal Recessive 58 57 75 29 6
Mrt58 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
three unrelated families have been reported (last curated december 2016)


HPO:

32
mental retardation, autosomal recessive 58:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases Bone diseases Cardiovascular diseases Skin diseases Ear diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Mental Retardation, Autosomal Recessive 58

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UniProtKB/Swiss-Prot : 75 Mental retardation, autosomal recessive 58: 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. MRT58 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mental Retardation, Autosomal Recessive 58, is also known as mrt58. An important gene associated with Mental Retardation, Autosomal Recessive 58 is ELP2 (Elongator Acetyltransferase Complex Subunit 2). Affiliated tissues include skin, bone and eye, and related phenotypes are intellectual disability and hyperreflexia

Description from OMIM: 617270
Sources

Related Diseases for Mental Retardation, Autosomal Recessive 58

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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 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
Autosomal Dominant Mental Retardation 55

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Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 58

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
choreoathetosis
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia, truncal

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self-injury

Growth Height:
short stature (1 patient)


Clinical features from OMIM:

617270

Human phenotypes related to Mental Retardation, Autosomal Recessive 58:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 very rare (1%) HP:0001249
2 hyperreflexia 32 very rare (1%) HP:0001347
3 self-injurious behavior 32 very rare (1%) HP:0100716
4 global developmental delay 32 very rare (1%) HP:0001263
5 delayed speech and language development 32 very rare (1%) HP:0000750
6 short stature 32 occasional (7.5%) HP:0004322
7 stereotypy 32 very rare (1%) HP:0000733
8 absent speech 32 HP:0001344
9 aggressive behavior 32 HP:0000718
10 choreoathetosis 32 HP:0001266
11 spastic diplegia 32 very rare (1%) HP:0001264
12 poor head control 32 very rare (1%) HP:0002421
13 muscular hypotonia of the trunk 32 very rare (1%) HP:0008936
14 pica 32 very rare (1%) HP:0011856
Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 58

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 58

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Genetic Tests for Mental Retardation, Autosomal Recessive 58

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Genetic tests related to Mental Retardation, Autosomal Recessive 58:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 58 29 ELP2
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Anatomical Context for Mental Retardation, Autosomal Recessive 58

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MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 58:

41
Skin, Bone, Eye
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Publications for Mental Retardation, Autosomal Recessive 58

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Variations for Mental Retardation, Autosomal Recessive 58

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ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 58:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELP2 NM_001242875.2(ELP2): c.812A> G (p.His271Arg) single nucleotide variant Pathogenic/Likely pathogenic rs773432002 GRCh37 Chromosome 18, 33722272: 33722272
2 ELP2 NM_001242875.2(ELP2): c.812A> G (p.His271Arg) single nucleotide variant Pathogenic/Likely pathogenic rs773432002 GRCh38 Chromosome 18, 36142309: 36142309
3 ELP2 NM_001242875.2(ELP2): c.1579C> T (p.Arg527Trp) single nucleotide variant Pathogenic/Likely pathogenic rs767713084 GRCh37 Chromosome 18, 33736537: 33736537
4 ELP2 NM_001242875.2(ELP2): c.1579C> T (p.Arg527Trp) single nucleotide variant Pathogenic/Likely pathogenic rs767713084 GRCh38 Chromosome 18, 36156574: 36156574
5 ELP2 NM_001242875.2(ELP2): c.1858A> C (p.Thr620Pro) single nucleotide variant Pathogenic rs772450541 GRCh37 Chromosome 18, 33739953: 33739953
6 ELP2 NM_001242875.2(ELP2): c.1858A> C (p.Thr620Pro) single nucleotide variant Pathogenic rs772450541 GRCh38 Chromosome 18, 36159990: 36159990
7 ELP2 NM_001242875.2(ELP2): c.1580G> T (p.Arg527Leu) single nucleotide variant Pathogenic rs371310428 GRCh37 Chromosome 18, 33736538: 33736538
8 ELP2 NM_001242875.2(ELP2): c.1580G> T (p.Arg527Leu) single nucleotide variant Pathogenic rs371310428 GRCh38 Chromosome 18, 36156575: 36156575
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Expression for Mental Retardation, Autosomal Recessive 58

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 58.
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Pathways for Mental Retardation, Autosomal Recessive 58

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GO Terms for Mental Retardation, Autosomal Recessive 58

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Sources for Mental Retardation, Autosomal Recessive 58

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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