MRX106
MCID: MNT294
MIFTS: 23

Mental Retardation, X-Linked 106 (MRX106)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked 106

MalaCards integrated aliases for Mental Retardation, X-Linked 106:

Name: Mental Retardation, X-Linked 106 57 72 6
Mrx106 57 12 72
Non-Syndromic X-Linked Intellectual Disability 106 12
Mental Retardation, X-Linked, Type 106 39
X-Linked Mental Retardation 106 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
variable features reported


HPO:

31
mental retardation, x-linked 106:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080240
OMIM® 57 300997
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901

Summaries for Mental Retardation, X-Linked 106

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 106: 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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Mental Retardation, X-Linked 106, is also known as mrx106. An important gene associated with Mental Retardation, X-Linked 106 is OGT (O-Linked N-Acetylglucosamine (GlcNAc) Transferase). Affiliated tissues include testis, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A non-syndromic X-linked intellectual disability that has material basis in hemizygous mutation in OGT on chromosome Xq13.1.

More information from OMIM: 300997 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 106

Human phenotypes related to Mental Retardation, X-Linked 106:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 nystagmus 31 HP:0000639
3 global developmental delay 31 HP:0001263
4 hypertelorism 31 HP:0000316
5 microcephaly 31 HP:0000252
6 cryptorchidism 31 HP:0000028
7 open mouth 31 HP:0000194
8 amblyopia 31 HP:0000646
9 hypospadias 31 HP:0000047
10 high hypermetropia 31 HP:0008499
11 decreased testicular size 31 HP:0008734

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
hypertelorism
amblyopia
high hypermetropia

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
small phallus
small testis

Head And Neck Head:
microcephaly

Head And Neck Mouth:
open mouth
mouth hypotonia

Neurologic Central Nervous System:
delayed psychomotor development (in all patients)
intellectual disability (in all patients)

Clinical features from OMIM®:

300997 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked 106

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 106

Genetic Tests for Mental Retardation, X-Linked 106

Anatomical Context for Mental Retardation, X-Linked 106

MalaCards organs/tissues related to Mental Retardation, X-Linked 106:

40
Testis

Publications for Mental Retardation, X-Linked 106

Articles related to Mental Retardation, X-Linked 106:

(showing 5, show less)
# Title Authors PMID Year
1
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. 6 57
28584052 2017
2
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. 6 57
28302723 2017
3
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. 6
31627256 2020
4
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. 6
29769320 2018
5
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes. 6
25679214 2015

Variations for Mental Retardation, X-Linked 106

ClinVar genetic disease variations for Mental Retardation, X-Linked 106:

6 (showing 12, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OGT NM_181672.3(OGT):c.851G>C (p.Arg284Pro) SNV Pathogenic 428571 rs1114167891 GRCh37: X:70775162-70775162
GRCh38: X:71555312-71555312
2 OGT NM_181672.3(OGT):c.463-6T>G SNV Pathogenic 428572 rs943295842 GRCh37: X:70764411-70764411
GRCh38: X:71544561-71544561
3 OGT NM_181672.3(OGT):c.762G>T (p.Leu254Phe) SNV Pathogenic 428570 rs1131692155 GRCh37: X:70775073-70775073
GRCh38: X:71555223-71555223
4 OGT NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) SNV Pathogenic 691611 rs1602152230 GRCh37: X:70781715-70781715
GRCh38: X:71561865-71561865
5 OGT NM_181672.3(OGT):c.762G>C (p.Leu254Phe) SNV Pathogenic 804282 rs1131692155 GRCh37: X:70775073-70775073
GRCh38: X:71555223-71555223
6 OGT NM_181672.3(OGT):c.775G>A (p.Ala259Thr) SNV Pathogenic 208705 rs797044898 GRCh37: X:70775086-70775086
GRCh38: X:71555236-71555236
7 OGT NM_181672.3(OGT):c.1016A>G (p.Glu339Gly) SNV Pathogenic 804284 rs1602147880 GRCh37: X:70775895-70775895
GRCh38: X:71556045-71556045
8 OGT NM_181672.3(OGT):c.2795C>T (p.Thr932Ile) SNV Likely pathogenic 689775 rs1602155923 GRCh37: X:70787555-70787555
GRCh38: X:71567705-71567705
9 OGT NM_181672.3(OGT):c.2636C>T (p.Pro879Leu) SNV Uncertain significance 932133 GRCh37: X:70787396-70787396
GRCh38: X:71567546-71567546
10 OGT NM_181672.3(OGT):c.420A>T (p.Glu140Asp) SNV Uncertain significance 1033236 GRCh37: X:70757880-70757880
GRCh38: X:71538030-71538030
11 OGT NM_181672.3(OGT):c.955G>A (p.Ala319Thr) SNV Uncertain significance 804283 rs1602147851 GRCh37: X:70775834-70775834
GRCh38: X:71555984-71555984
12 OGT NM_181672.3(OGT):c.349C>T (p.Arg117Cys) SNV Uncertain significance 638525 rs1317050680 GRCh37: X:70757809-70757809
GRCh38: X:71537959-71537959

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 106:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 OGT p.Arg284Pro VAR_079183 rs111416789
2 OGT p.Leu254Phe VAR_079254 rs113169215

Expression for Mental Retardation, X-Linked 106

Search GEO for disease gene expression data for Mental Retardation, X-Linked 106.

Pathways for Mental Retardation, X-Linked 106

GO Terms for Mental Retardation, X-Linked 106

Sources for Mental Retardation, X-Linked 106

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
34 ICD9CM
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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