MCID: MNT294
MIFTS: 16

Mental Retardation, X-Linked 106

Categories: 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 75 6
Mrx106 57 75
X-Linked Mental Retardation 106 12

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable features reported


Classifications:



External Ids:

OMIM 57 300997
Disease Ontology 12 DOID:0080240
MeSH 44 D038901

Summaries for Mental Retardation, X-Linked 106

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 300997

Symptoms & Phenotypes for Mental Retardation, X-Linked 106

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Mouth:
open mouth
mouth hypotonia

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Eyes:
hypertelorism
amblyopia
nystagmus
high hypermetropia

Genitourinary External Genitalia Male:
hypospadias
small testis
small phallus

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


Clinical features from OMIM:

300997

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:

41
Testis

Publications for Mental Retardation, X-Linked 106

Variations for Mental Retardation, X-Linked 106

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

75
# Symbol AA change Variation ID SNP ID
1 OGT p.Arg284Pro VAR_079183
2 OGT p.Leu254Phe VAR_079254

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OGT NM_181673.2(OGT): c.732G> T (p.Leu244Phe) single nucleotide variant Pathogenic rs1131692155 GRCh38 Chromosome X, 71555223: 71555223
2 OGT NM_181673.2(OGT): c.732G> T (p.Leu244Phe) single nucleotide variant Pathogenic rs1131692155 GRCh37 Chromosome X, 70775073: 70775073
3 OGT NM_181673.2(OGT): c.821G> C (p.Arg274Pro) single nucleotide variant Pathogenic rs1114167891 GRCh37 Chromosome X, 70775162: 70775162
4 OGT NM_181673.2(OGT): c.821G> C (p.Arg274Pro) single nucleotide variant Pathogenic rs1114167891 GRCh38 Chromosome X, 71555312: 71555312
5 OGT NM_181673.2(OGT): c.433-6T> G single nucleotide variant Pathogenic rs943295842 GRCh37 Chromosome X, 70764411: 70764411
6 OGT NM_181673.2(OGT): c.433-6T> G single nucleotide variant Pathogenic rs943295842 GRCh38 Chromosome X, 71544561: 71544561

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 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
Content
Loading form....