MRT58
MCID: MNT285
MIFTS: 22

Mental Retardation, Autosomal Recessive 58 (MRT58)

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 Recessive 58

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 58:

Name: Mental Retardation, Autosomal Recessive 58 57 72 29 6
Mrt58 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
mental retardation, autosomal recessive 58:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 58

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are short stature and intellectual disability

More information from OMIM: 617270 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 58

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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 58

Human phenotypes related to Mental Retardation, Autosomal Recessive 58:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 intellectual disability 31 very rare (1%) HP:0001249
3 hyperreflexia 31 very rare (1%) HP:0001347
4 self-injurious behavior 31 very rare (1%) HP:0100716
5 global developmental delay 31 very rare (1%) HP:0001263
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 stereotypy 31 very rare (1%) HP:0000733
8 poor head control 31 very rare (1%) HP:0002421
9 spastic diplegia 31 very rare (1%) HP:0001264
10 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
11 pica 31 very rare (1%) HP:0011856
12 absent speech 31 HP:0001344
13 choreoathetosis 31 HP:0001266
14 aggressive behavior 31 HP:0000718

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 58

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

Genetic Tests for Mental Retardation, Autosomal Recessive 58

Genetic tests related to Mental Retardation, Autosomal Recessive 58:

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

Anatomical Context for Mental Retardation, Autosomal Recessive 58

Publications for Mental Retardation, Autosomal Recessive 58

Articles related to Mental Retardation, Autosomal Recessive 58:

# Title Authors PMID Year
1
ELP2 is a novel gene implicated in neurodevelopmental disabilities. 57 6
25847581 2015
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011

Variations for Mental Retardation, Autosomal Recessive 58

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

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELP2 NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu) SNV Pathogenic 374912 rs371310428 GRCh37: 18:33736538-33736538
GRCh38: 18:36156575-36156575
2 ELP2 NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro) SNV Pathogenic 374911 rs772450541 GRCh37: 18:33739953-33739953
GRCh38: 18:36159990-36159990
3 ELP2 NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter) SNV Pathogenic 870397 GRCh37: 18:33739947-33739947
GRCh38: 18:36159984-36159984
4 ELP2 NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) SNV Pathogenic 225038 rs767713084 GRCh37: 18:33736537-33736537
GRCh38: 18:36156574-36156574
5 ELP2 NM_018255.4(ELP2):c.617A>G (p.His206Arg) SNV Pathogenic 225008 rs773432002 GRCh37: 18:33722272-33722272
GRCh38: 18:36142309-36142309
6 ELP2 NM_018255.4(ELP2):c.1747del (p.Ala583fs) Deletion Pathogenic 1033376 GRCh37: 18:33740953-33740953
GRCh38: 18:36160990-36160990
7 ELP2 NM_018255.4(ELP2):c.293dup (p.Leu98fs) Duplication Pathogenic 1012186 GRCh37: 18:33718233-33718234
GRCh38: 18:36138270-36138271
8 ELP2 NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) SNV Likely pathogenic 870396 GRCh37: 18:33736538-33736538
GRCh38: 18:36156575-36156575
9 ELP2 NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser) SNV Uncertain significance 1030307 GRCh37: 18:33734926-33734926
GRCh38: 18:36154963-36154963
10 ELP2 NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) SNV Uncertain significance 1012183 GRCh37: 18:33736484-33736484
GRCh38: 18:36156521-36156521
11 ELP2 NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile) SNV Uncertain significance 1030308 GRCh37: 18:33736534-33736534
GRCh38: 18:36156571-36156571
12 ELP2 NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg) SNV Uncertain significance 1031244 GRCh37: 18:33751035-33751035
GRCh38: 18:36171072-36171072
13 ELP2 NM_018255.4(ELP2):c.918A>T (p.Arg306Ser) SNV Uncertain significance 1033373 GRCh37: 18:33725936-33725936
GRCh38: 18:36145973-36145973
14 ELP2 NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) SNV Uncertain significance 1033375 GRCh37: 18:33713240-33713240
GRCh38: 18:36133277-36133277
15 ELP2 NM_018255.4(ELP2):c.2045A>T (p.Lys682Met) SNV Uncertain significance 1033377 GRCh37: 18:33747154-33747154
GRCh38: 18:36167191-36167191
16 ELP2 NM_018255.4(ELP2):c.2396C>T (p.Ala799Val) SNV Uncertain significance 788374 rs35629953 GRCh37: 18:33754519-33754519
GRCh38: 18:36174556-36174556

Expression for Mental Retardation, Autosomal Recessive 58

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

Pathways for Mental Retardation, Autosomal Recessive 58

GO Terms for Mental Retardation, Autosomal Recessive 58

Sources for Mental Retardation, Autosomal Recessive 58

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
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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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