MRX73
MCID: MNT247
MIFTS: 17

Mental Retardation, X-Linked 73 (MRX73)

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

Aliases & Classifications for Mental Retardation, X-Linked 73

MalaCards integrated aliases for Mental Retardation, X-Linked 73:

Name: Mental Retardation, X-Linked 73 56 71
Mrx73 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
one 4-generation family with 5 affected males has been reported (last curated may 2016)


HPO:

31
mental retardation, x-linked 73:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 300355
OMIM Phenotypic Series 56 PS309530
MedGen 41 C1845860
SNOMED-CT via HPO 68 253207002 263934009 86765009
UMLS 71 C1845860

Summaries for Mental Retardation, X-Linked 73

MalaCards based summary : Mental Retardation, X-Linked 73, also known as mrx73, is related to autism x-linked 2 and craniosynostosis with fibular aplasia. An important gene associated with Mental Retardation, X-Linked 73 is MRX73 (Mental Retardation, X-Linked 73). Affiliated tissues include brain and testes, and related phenotypes are intellectual disability, mild and synophrys

More information from OMIM: 300355 PS309530

Related Diseases for Mental Retardation, X-Linked 73

Symptoms & Phenotypes for Mental Retardation, X-Linked 73

Human phenotypes related to Mental Retardation, X-Linked 73:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 HP:0001256
2 synophrys 31 HP:0000664

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
mental retardation, mild to moderate
normal brain ct

Neurologic Behavioral Psychiatric Manifestations:
outgoing personality without autistic traits

Head And Neck Face:
synophrys, mild

Clinical features from OMIM:

300355

Drugs & Therapeutics for Mental Retardation, X-Linked 73

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 73

Genetic Tests for Mental Retardation, X-Linked 73

Anatomical Context for Mental Retardation, X-Linked 73

MalaCards organs/tissues related to Mental Retardation, X-Linked 73:

40
Brain, Testes

Publications for Mental Retardation, X-Linked 73

Articles related to Mental Retardation, X-Linked 73:

# Title Authors PMID Year
1
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. 61 56
11477616 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

Variations for Mental Retardation, X-Linked 73

Expression for Mental Retardation, X-Linked 73

Search GEO for disease gene expression data for Mental Retardation, X-Linked 73.

Pathways for Mental Retardation, X-Linked 73

GO Terms for Mental Retardation, X-Linked 73

Sources for Mental Retardation, X-Linked 73

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
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