MRT18
MCID: MNT151
MIFTS: 21

Mental Retardation, Autosomal Recessive 18 (MRT18)

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 18

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 18:

Name: Mental Retardation, Autosomal Recessive 18 57 72 29 13 6 70
Mrt18 57 72
Mental Retardation Non-Syndromic Autosomal Recessive 18 72
Mental Retardation, Autosomal Recessive, Type 18 39

Characteristics:

OMIM®:

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

Miscellaneous:
normal metabolic screening and no malformations
based on 1 consanguineous algerian family with 5 affected sibs


HPO:

31
mental retardation, autosomal recessive 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614249
OMIM Phenotypic Series 57 PS249500
MeSH 44 D008607
MedGen 41 C3280265
UMLS 70 C3280265

Summaries for Mental Retardation, Autosomal Recessive 18

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 18: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Recessive 18, also known as mrt18, is related to argininemia. An important gene associated with Mental Retardation, Autosomal Recessive 18 is MED23 (Mediator Complex Subunit 23). Related phenotype is intellectual disability.

More information from OMIM: 614249 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 18

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 Recessive 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 argininemia 9.5 MED23 ARG1

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 18

Human phenotypes related to Mental Retardation, Autosomal Recessive 18:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation, mild to moderate

Clinical features from OMIM®:

614249 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 18

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 18

Genetic Tests for Mental Retardation, Autosomal Recessive 18

Genetic tests related to Mental Retardation, Autosomal Recessive 18:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 18 29 MED23

Anatomical Context for Mental Retardation, Autosomal Recessive 18

Publications for Mental Retardation, Autosomal Recessive 18

Articles related to Mental Retardation, Autosomal Recessive 18:

# Title Authors PMID Year
1
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. 6 57
21868677 2011
2
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 61
21629298 2011

Variations for Mental Retardation, Autosomal Recessive 18

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 18:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED23 NM_004830.4(MED23):c.3638A>G (p.His1213Arg) SNV Pathogenic 143192 rs527236035 GRCh37: 6:131912501-131912501
GRCh38: 6:131591361-131591361
2 MED23 NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) SNV Pathogenic 143193 rs527236036 GRCh37: 6:131908938-131908938
GRCh38: 6:131587798-131587798
3 MED23 NM_004830.4(MED23):c.1832G>A (p.Arg611Gln) SNV Pathogenic 30442 rs370667926 GRCh37: 6:131924269-131924269
GRCh38: 6:131603129-131603129
4 MED23 NM_004830.4(MED23):c.2807del (p.Gly936fs) Deletion Pathogenic 1032716 GRCh37: 6:131917275-131917275
GRCh38: 6:131596135-131596135
5 MED23 NM_004830.4(MED23):c.2832dup (p.Val945fs) Duplication Pathogenic 1032717 GRCh37: 6:131917249-131917250
GRCh38: 6:131596109-131596110
6 MED23 NM_004830.4(MED23):c.670C>G (p.Arg224Gly) SNV Pathogenic 437437 rs1293450628 GRCh37: 6:131939657-131939657
GRCh38: 6:131618517-131618517
7 MED23 NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) SNV Likely pathogenic 620500 rs769471341 GRCh37: 6:131914191-131914191
GRCh38: 6:131593051-131593051
8 MED23 NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) SNV Likely pathogenic 1029420 GRCh37: 6:131929108-131929108
GRCh38: 6:131607968-131607968
9 MED23 NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) SNV Likely pathogenic 802270 rs766478634 GRCh37: 6:131908944-131908944
GRCh38: 6:131587804-131587804
10 MED23 NM_004830.4(MED23):c.2364_2367CTTT[1] (p.Leu790fs) Microsatellite Likely pathogenic 559910 rs760262127 GRCh37: 6:131919751-131919754
GRCh38: 6:131598611-131598614
11 MED23 NM_004830.4(MED23):c.367C>T (p.Arg123Trp) SNV Uncertain significance 547915 rs374403178 GRCh37: 6:131944520-131944520
GRCh38: 6:131623380-131623380
12 MED23 NM_004830.4(MED23):c.4080G>T (p.Val1360=) SNV Uncertain significance 432201 rs138742804 GRCh37: 6:131908846-131908846
GRCh38: 6:131587706-131587706
13 MED23 NM_004830.4(MED23):c.1708T>G (p.Leu570Val) SNV Uncertain significance 1030847 GRCh37: 6:131925366-131925366
GRCh38: 6:131604226-131604226
14 MED23 NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) SNV Uncertain significance 1032715 GRCh37: 6:131921222-131921222
GRCh38: 6:131600082-131600082
15 MED23 NM_004830.4(MED23):c.235C>T (p.Leu79Phe) SNV Uncertain significance 211484 rs151031376 GRCh37: 6:131946054-131946054
GRCh38: 6:131624914-131624914
16 MED23 NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) SNV Uncertain significance 1033382 GRCh37: 6:131912573-131912573
GRCh38: 6:131591433-131591433
17 MED23 NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) SNV Uncertain significance 1033383 GRCh37: 6:131908946-131908946
GRCh38: 6:131587806-131587806
18 ARG1 , MED23 NM_000045.4(ARG1):c.270C>T (p.Asn90=) SNV Benign 136419 rs34504481 GRCh37: 6:131900390-131900390
GRCh38: 6:131579250-131579250
19 MED23 NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) SNV not provided 441025 rs1416942996 GRCh37: 6:131919705-131919705
GRCh38: 6:131598565-131598565

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 18:

72
# Symbol AA change Variation ID SNP ID
1 MED23 p.Arg611Gln VAR_082644 rs370667926

Expression for Mental Retardation, Autosomal Recessive 18

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 18.

Pathways for Mental Retardation, Autosomal Recessive 18

GO Terms for Mental Retardation, Autosomal Recessive 18

Sources for Mental Retardation, Autosomal Recessive 18

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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45 MESH via Orphanet
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49 NCI
50 NCIt
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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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