MRX53
MCID: MNT202
MIFTS: 15

Mental Retardation, X-Linked 53 (MRX53)

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

Aliases & Classifications for Mental Retardation, X-Linked 53

MalaCards integrated aliases for Mental Retardation, X-Linked 53:

Name: Mental Retardation, X-Linked 53 56 13 71
Mrx53 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
based on a report of 8 affected males in one pakistani family


HPO:

31
mental retardation, x-linked 53:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300324
OMIM Phenotypic Series 56 PS309530
MedGen 41 C1845889
SNOMED-CT via HPO 68 228156007 247578003 91138005
UMLS 71 C1845889

Summaries for Mental Retardation, X-Linked 53

MalaCards based summary : Mental Retardation, X-Linked 53, also known as mrx53, is related to autism x-linked 2. An important gene associated with Mental Retardation, X-Linked 53 is MRX53 (Mental Retardation, X-Linked 53). Affiliated tissues include testes, and related phenotype is intellectual disability.

More information from OMIM: 300324 PS309530

Related Diseases for Mental Retardation, X-Linked 53

Symptoms & Phenotypes for Mental Retardation, X-Linked 53

Human phenotypes related to Mental Retardation, X-Linked 53:

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
mental retardation (iq between 45-50)
normal gross motor development

Clinical features from OMIM:

300324

Drugs & Therapeutics for Mental Retardation, X-Linked 53

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 53

Genetic Tests for Mental Retardation, X-Linked 53

Anatomical Context for Mental Retardation, X-Linked 53

MalaCards organs/tissues related to Mental Retardation, X-Linked 53:

40
Testes

Publications for Mental Retardation, X-Linked 53

Articles related to Mental Retardation, X-Linked 53:

# Title Authors PMID Year
1
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. 61 56
11337751 2001
2
Fragile X and X-linked intellectual disability: four decades of discovery. 6
22482801 2012
3
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 6
21956720 2011
4
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 6
18231125 2008
5
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 6
14963808 2004
6
Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. 61
12949969 2003

Variations for Mental Retardation, X-Linked 53

Expression for Mental Retardation, X-Linked 53

Search GEO for disease gene expression data for Mental Retardation, X-Linked 53.

Pathways for Mental Retardation, X-Linked 53

GO Terms for Mental Retardation, X-Linked 53

Sources for Mental Retardation, X-Linked 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....